Scott-Brown’s
EIGHTH EDITION
Otorhinolaryngology Head and Neck Surgery
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VOLUME 1
Basic Sciences, Head and Neck Endocrine Surgery, Rhinology VOLUME 2
Paediatrics, The Ear, Skull Base VOLUME 3
Head and Neck Surgery, Plastic Surgery
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Scott-Brown’s
EIGHTH EDITION
Otorhinolaryngology Head and Neck Surgery VOLUME 2 Editors John C Watkinson MSc (Nuclear Medicine; London) MS (London) FRCS (General Surgery) FRCS (ENT) DLO One-Time Honorary Senior Lecturer and Consultant ENT/Head and Neck and Thyroid Surgeon, Queen Elizabeth Hospital University of Birmingham NHS Trust and latterly the Royal Marsden and Brompton Hospitals, London, UK Currently Consultant Head and Neck and Thyroid Surgeon, University Hospital, Coventry and Warwick NHS Trust; and Honorary Consultant ENT/Head and Neck and Thyroid Surgeon, Great Ormond Street Hospital (GOSH) Honorary Senior Anatomy Demonstrator, University College London (UCL) Business Director, Endocrine MDT, The BUPA Cromwell Hospital, London, UK.
Raymond W Clarke BA BSc DCH FRCS FRCS(ORL)
Consultant Paediatric Otolaryngologist, Royal Liverpool Children’s Hospital, Liverpool, UK Senior Lecturer and Associate Dean, University of Liverpool, UK.
Section Editors Christopher P Aldren MA (CANTAB) MBBS FRCS (Eng) FRCS (ORL-HNS)
Consultant Otolaryngologist, Wexham Park Hospital, Slough, UK.
Doris-Eva Bamiou MD MSc FRCP PhD
Professor in Neuroaudiology, Honorary Consultant in Audiovestibular Medicine MSc in Otology & Audiology (UCL) Course Co-Director, UCL Ear Institute, Royal National Throat Nose Ear Hospital, London, UK.
Raymond W Clarke BA BSc DCH FRCS FRCS(ORL)
Consultant Paediatric Otolaryngologist, Royal Liverpool Children’s Hospital, Liverpool, UK Senior Lecturer and Associate Dean, University of Liverpool, UK.
Richard M Irving MD FRCS (ORL-HNS)
Consultant in Neurotology, University Hospital Birmingham NHS Trust and Diana Princess of Wales (Birmingham Children’s) Hospital, Honorary Senior Lecturer, University of Birmingham, Birmingham, UK.
Haytham Kubba MBBS MPhil MD FRCS(ORL-HNS)
Associate Professor, Department of Paediatrics, University of Melbourne, Consultant Otolaryngologist, Royal Children’s Hospital, Parkville, Australia.
Shakeel R Saeed MD FRCS (ORL)
Clinical Director RNTNEH, Professor of Otology/Neuro-otology, UCL Ear Institute Consultant ENT and Skull Base Surgeon, The Royal National Throat, Nose & Ear Hospital and National Hospital for Neurology and Neurosurgery, London, UK.
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CRC Press Taylor & Francis Group 6000 Broken Sound Parkway NW, Suite 300 Boca Raton, FL 33487-2742 © 2018 by Taylor & Francis Group, LLC CRC Press is an imprint of Taylor & Francis Group, an Informa business No claim to original U.S. Government works Printed on acid-free paper International Standard Book Number-13: 978-1-138-09461-1 (Hardback; Volume 1) International Standard Book Number-13: 978-1-138-09463-4 (Hardback; Volume 2) International Standard Book Number-13: 978-1-138-09464-2 (Hardback; Volume 3) International Standard Book Number-13: 978-1-4441-7589-9 (Hardback; Set) International Standard Book Number-13: 978-1-138-19652-0 (International Student Edition; restricted territorial availability) This book contains information obtained from authentic and highly regarded sources. While all reasonable efforts have been made to publish reliable data and information, neither the author[s] nor the publisher can accept any legal responsibility or liability for any errors or omissions that may be made. The publishers wish to make clear that any views or opinions expressed in this book by individual editors, authors or contributors are personal to them and do not necessarily reflect the views/opinions of the publishers. The information or guidance contained in this book isintended for use by medical, scientific or healthcare professionals and is provided strictly as a supplement to the medical or other professional’s own judgement, their knowledge of the patient’s medical history, relevant manufacturer’s instructions and the appropriate best practice guidelines. Because of the rapid advances in medical science, any information or advice on dosages, procedures or diagnoses should be independently verified. The reader is strongly urged to consult the relevant national drug formulary and the drug companies’ and device or material manufacturers’ printed instructions, and their websites, before administering or utilizing any of the drugs, devices or materials mentioned in this book. This book does not indicate whether a particular treatment is appropriate or suitable for a particular individual. Ultimately it is the sole responsibility of the medical professional to make his or her own professional judgements, so as to advise and treat patients appropriately. The authors and publishers have also attempted to trace the copyright holders of all material reproduced in this publication and apologize to copyright holders if permission to publish in this form has not been obtained. If any copyright material has not been acknowledged please write and let us know so we may rectify in any future reprint. Except as permitted under U.S. Copyright Law, no part of this book may be reprinted, reproduced, transmitted, or utilized in any form by any electronic, mechanical, or other means, now known or hereafter invented, including photocopying, microfilming, and recording, or in any information storage or retrieval system, without written permission from the publishers. For permission to photocopy or use material electronically from this work, please access www.copyright.com (http://www.copyright.com/) or contact the Copyright Clearance Center, Inc. (CCC), 222 Rosewood Drive, Danvers, MA 01923, 978-750-8400. CCC is a not-for-profit organization that provides licenses and registration for a variety of users. For organizations that have been granted a photocopy license by the CCC, a separate system of payment has been arranged. Trademark Notice: Product or corporate names may be trademarks or registered trademarks, and are used only for identification and explanation without intent to infringe. Library of Congress Cataloging‑in‑Publication Data Names: Watkinson, John C., editor. | Clarke, Ray (Raymond), editor. Title: Scott-Brown’s otorhinolaryngology and head and neck surgery : basic sciences, endocrine surgery, rhinology / John Watkinson, Ray Clarke. Other titles: Scott-Brown’s otorhinolaryngology, head and neck surgery |Otorhinolaryngology and head and neck surgery. Description: Eighth edition. | Boca Raton : CRC Press, [2018] | Preceded by Scott-Brown’s otorhinolaryngology, head and neck surgery. 7th ed. c2008. | Includes bibliographical references and index. Identifiers: LCCN 2017032760 (print) | LCCN 2017033968 (ebook) | ISBN 9780203731031 (eBook General) | ISBN 9781351399067 (eBook PDF) | ISBN 9781351399050 (eBook ePub3) | ISBN 9781351399043 (eBook Mobipocket) | ISBN 9781138094611 (hardback : alk. paper). Subjects: | MESH: Otolaryngology--methods | Otorhinolaryngologic Diseases--surgery | Head--surgery | Neck--surgery | Otorhinolaryngologic Surgical Procedures—methods. Classification: LCC RF20 (ebook) | LCC RF20 (print) | NLM WV 100 | DDC 617.5/1--dc23 LC record available at https://lccn.loc.gov/2017032760 Visit the Taylor & Francis Web site at http://www.taylorandfrancis.com and the CRC Press Web site at http://www.crcpress.com
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Contents Contributors........................................................................ ix Foreword........................................................................... xix Preface.............................................................................. xxi A Tribute to Bill Scott-Brown............................................xxiii Acknowledgements..........................................................xxiv Volume 1 – Table of Contents........................................... xxv Volume 3 – Table of Contents...........................................xxix Abbreviations...................................................................xxxii
Section 1 Paediatrics 1: Introduction to paediatric otorhinolaryngology................. 3 Raymond W. Clarke 2: The paediatric consultation.............................................. 7 Raymond W. Clarke 3: Recognition and management of the sick child............. 15 Julian Gaskin, Raymond W. Clarke and Claire Westrope 4: A naesthesia for paediatric otorhinolaryngology procedures..................................................................... 23 Crispin Best 5: The child with special needs.......................................... 33 Kate Blackmore and Derek Bosman 6: The child with a syndrome............................................. 41 Thushitha Kunanandam and Haytham Kubba 7: Management of the immunodeficient child.................... 47 Fiona Shackley 8: Hearing screening and surveillance................................ 55 Sally A. Wood 9: Hearing tests in children................................................. 65 Glynnis Parker 10: Management of the hearing impaired child.................. 75 Chris H. Raine, Sue Archbold, Tony Sirimanna and Soumit Dasgupta 11: Paediatric implantation otology.................................... 93 James Ramsden and Payal Mukherjee 12: Congenital middle ear abnormalities.......................... 107 Jonathan P. Harcourt 13: Otitis media with effusion............................................ 115 Peter J. Robb and Ian Williamson 14: Acute otitis media....................................................... 137 Peter A. Rea and Natalie Ronan
15: Chronic otitis media.................................................... 155 William P.L. Hellier 16: Microtia and external ear abnormalities...................... 165 Iain Bruce and Jaya Nichani 17: Disorders of speech and language............................. 175 Suzanne Harrigan and Andrew Marshall 18: Cleft lip and palate...................................................... 185 David M. Wynne and Louisa Ferguson 19: Craniofacial surgery.................................................... 195 Benjamin Robertson, Sujata De, Astrid Webber and Ajay Sinha 20: Balance disorders in children..................................... 219 Louisa Murdin and Gavin A.J. Morrison 21: Facial paralysis in children.......................................... 231 S. Musheer Hussain 22: Epistaxis...................................................................... 241 Mary-Louise Montague and Nicola E. Starritt 23: Neonatal nasal obstruction......................................... 251 Michelle Wyatt 24: Paediatric rhinosinusitis and its complications........... 261 Daniel J. Tweedie 25: Lacrimal disorders in children..................................... 279 Caroline J. MacEwen and Paul S. White 26: The adenoid and adenoidectomy............................... 285 Peter J. Robb 27: Paediatric obstructive sleep apnoea.......................... 293 Steven Powell 28: Stridor......................................................................... 311 Kate Stephenson and David Albert 29: Acute laryngeal infections........................................... 325 Lesley Cochrane 30: Congenital disorders of the larynx, trachea andbronchi................................................................. 333 Chris Jephson 31: Acquired laryngotracheal stenosis.............................. 347 Michael J. Rutter, Alessandro de Alarcón and Catherine K. Hart 32: Juvenile-onset recurrent respiratory papillomatosis......367 Rania Mehanna and Michael Kuo v
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vi Contents 33: Paediatric voice disorders.......................................... 377 Ben Hartley and David M. Wynne
51: Psychoacoustic audiometry....................................... 627 Josephine E. Marriage and Marina Salorio-Corbetto
34: Foreign bodies in the ear, nose and throat................. 385 Adam J. Donne and Katharine Davies
52: Evoked measurement of auditory sensitivity.............. 649 Jeffrey Weihing and Nicholas Leahy
35: Paediatric tracheostomy............................................. 395 Michael Saunders
53: Prevention of hearing loss.......................................... 663 Shankar Rangan and Veronica Kennedy
36: Perinatal airway management..................................... 413 Pensée Wu, May M.C. Yaneza, Haytham Kubba, W.Andrew Clement, and Alan D. Cameron
54: Hearing aids................................................................ 671 Harvey Dillon
37: Cervicofacial infections............................................... 423 Nico Jonas and Ben Hartley 38: Diseases of tonsils, tonsillectomy and tonsillotomy..... 435 Yogesh Bajaj and Ian Hore 39: Salivary glands............................................................ 443 Neil Bateman and Rachael Lawrence 40: Tumours of the head and neck in childhood............... 451 Fiona B. MacGregor and James Hayden 41: Cysts and sinuses of the head and neck.................... 465 Keith G. Trimble and Luke McCadden 42: Haemangiomas and vascular malformations.............. 477 Daniel J. Tweedie and Benjamin E.J. Hartley 43: Drooling and aspiration............................................... 491 Haytham Kubba and Katherine Ong 44: Reflux and eosinophilic oesophagitis......................... 501 Ravi Thevasagayam 45: Oesophageal disorders in children............................. 513 Graham Haddock
Section 2 The Ear
55: Beyond hearing aids: an overview of adult audiological rehabilitation........................................... 685 Lucy Handscomb 56: Age-related sensorineural hearing impairment........... 693 Linnea Cheung, David M. Baguley and AndrewMcCombe 57: Noise-induced hearing loss and related conditions......701 Andrew McCombe and David M. Baguley 58: Autosomal dominant non-syndromic sensorineural hearing loss.......................................... 711 Polona Le Quesne Stabej and Maria Bitner-Glindzicz 59: Ototoxicity.................................................................. 721 Andrew Forge 60: Idiopathic sudden sensorineural hearing loss............ 739 Tony Narula and Catherine Rennie 61: Tinnitus and hyperacusis............................................ 753 Don McFerran and John Phillips 62: Evaluation of balance.................................................. 775 Adolfo M. Bronstein 63: Ménière’s disease....................................................... 817 Vincent W.F.M. Van Rompaey
Audiovestibular medicine
64: Benign paroxysmal positional vertigo......................... 831 Yougan Saman and Doris-Eva Bamiou
46: A natomy and embryology of the external and middle ear................................................................... 525 Peter Valentine and Tony Wright
65: Superior semicircular canal dehiscence..................... 843 Harry R.F. Powell and Shakeel R. Saeed
47: A natomy of the cochlea and vestibular system: relating ultrastructure to function................................ 545 Jonathan Gale and Andrew Forge 48: Physiology of hearing.................................................. 567 Soumit Dasgupta and Michael Maslin 49: Physiology of equilibrium ........................................... 593 Floris L. Wuyts, Leen K. Maes and An Boudewyns 50: Perception of sounds at the auditory cortex.............. 617 Frank E. Musiek and Jane A. Baran
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66: Vestibular neuritis........................................................ 849 Charlotte Agrup 67: Vestibular migraine..................................................... 855 Louisa Murdin and Linda M. Luxon 68: Vestibular rehabilitation............................................... 863 Marousa Pavlou 69: Auditory neuropathy spectrum disorder and retrocochlear disorders in adults and children........... 873 Rosalyn A. Davies and Raj Nandi
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Contents vii 70: Understanding tinnitus: a psychological perspective..... 893 Laurence McKenna, Elizabeth Marks and David J. Scott 71: Auditory processing disorders across the age span.....901 Doris-Eva Bamiou and Cristina Ferraz B. Murphy 72: Neuropsychiatric aspects of vestibular disorders....... 909 Julius Bourke, Georgia Jackson and Gerald Libby
89: Otosclerosis.............................................................. 1061 Christopher P. Aldren, Thanos Bibas, Arnold J.N. Bittermann, GeorgeG.Browning, Wilko Grolman, Peter A. Rea, Rinze A. Tange and Inge Wegner 90: Otological effects of paget’s disease........................ 1093 Ian D. Bottrill
Otology
91: Ear trauma................................................................ 1099 Stephen C. Toynton
73: Clinical examination of the ears and hearing.............. 919 George G. Browning and Peter-John Wormald
92: Otalgia....................................................................... 1141 Philip D. Yates
74: Furunculosis................................................................ 931 Malcolm P. Hilton
Implantation otology
75: Myringitis..................................................................... 935 Samuel A.C. MacKeith eratosis obturans, primary auditory canal 76: K cholesteatoma and benign necrotizing otitis externa.....941 Tristram H.J. Lesser 77: Acquired atresia of the external ear............................ 949 Jonathan P. Harcourt
93: Bone-conduction hearing devices............................ 1149 James Ramsden and Chris H. Raine 94: Cochlear implants..................................................... 1157 Andrew Marshall and Stephen Broomfield 95: Middle ear implants.................................................. 1169 Maarten J.F. de Wolf and Richard M. Irving 96: Auditory brainstem implantation............................... 1177 Shakeel R. Saeed and Harry R.F. Powell
78: Otitis externa and otomycosis.................................... 953 A. Simon Carney
Section 3 Skull Base
79: Perichondritis of the external ear................................ 959 James W. Loock
97: Imaging of the temporal bone................................... 1187 Steve Colley
80: Exostosis of the external auditory canal .................... 963 Philip J. Robinson and Sophie J. Hollis
98: Anatomy of the skull base and infratemporal fossa. 1197 Charlie Huins
81: Osteoradionecrosis of the temporal bone.................. 967 James W. Loock
99: Evaluation of the skull base patient.......................... 1211 Jeyanthi Kulasegarah and Richard M. Irving
82: Acute otitis media and otitis media with effusion in adults...................................................................... 971 Anil Banerjee
100: Vascular assessment and management.................. 1221 Joe J. Leyon, Kurdow Nader and Swarupsinh Chavda
83: Chronic otitis media ................................................... 977 George G. Browning, Justin Weir, Gerard Kelly and Iain R.C. Swan 84: Myringoplasty........................................................... 1021 Charlie Huins and Jeremy Lavy
101: Natural history of vestibular schwannomas............ 1229 Mirko Tos†, Sven-Eric Stangerup and Per Caye-Thomasen 102: Surgical management of vestibular schwannoma.... 1239 Shakeel R. Saeed and Christopher J. Skilbeck
85: Ossiculoplasty ......................................................... 1029 Daniel Moualed, Alison Hunt and Christopher P. Aldren
103: Stereotactic radiosurgery........................................ 1259 Paul Sanghera, Geoffrey Heyes, Helen Howard, Rosemary Simmons and Helen Benghiat
86: Eustachian tube dysfunction ................................... 1039 Holger H. Sudhoff
104: Neurofibromatosis 2................................................ 1267 D. Gareth R. Evans
87: Otoendoscopy.......................................................... 1047 David A. Bowdler, Annabelle C.K. Leong and David D. Pothier
105: Non-vestibular schwannoma tumours of the cerebellopontine angle............................................ 1275 Simon K.W. Lloyd and Scott A. Rutherford
88: Tuberculosis of the temporal bone........................... 1057 Ameet Kishore
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†
deceased
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viii Contents 106: Middle fossa surgery............................................... 1289 Raghu N.S. Kumar, Sunil N. Dutt and Richard M. Irving
112: The facial nerve and its non-neoplastic disorders.....1381 Christopher Skilbeck, Susan Standring and Michael Gleeson
107: Jugular foramen lesions and their management..... 1299 Rupert Obholzer
113: Tumours of the facial nerve..................................... 1413 Patrick R. Axon and Samuel A.C. MacKeith
108: Petrous apex lesions .............................................. 1317 Michael Gleeson
114: Osteitis of the temporal bone.................................. 1419 Cheka R. Spencer and Peter Monksfield
109: Approaches to the nasopharynx and Eustachiantube ..................................................... 1325 Gunesh P. Rajan
115: Squamous cell carcinoma of the temporal bone......1425 Liam Masterson and Neil Donnelly
110: Tumours of the temporal bone................................ 1339 Marcus Atlas, Noweed Ahmad and Peter O’Sullivan
116: Complications of skull base surgery....................... 1435 Abdul Karim Nassimizadeh and Chris Coulson Index............................................................................... 1445
111: Clinical neuroanatomy............................................. 1351 John J.P. Patten
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Contributors Charlotte Agrup MD MSc FRCP PhD Consultant Audiovestibular Physician UCLH London, UK.
David M Baguley MSc MBA PhD Head of Audiology Addenbrooke’s Hospital Cambridge, UK.
Noweed Ahmad MBChB BSc (HONS) MSc FRCS Ed (ORL-HNS) Consultant Otolgist, Neuro-Otologist and Skull Base Surgeon Department of Otolaryngology James Cook University Hospital Middlesbrough, Cleveland, UK.
Yogesh Bajaj FRCS ORLHNS ENT Consultant Royal London Hospital London, UK; and Visiting Professor Canterbury University Kent, UK.
Alessandro De Alarcón MD MPH Associate Professor of Otolaryngology-Head and NeckSurgery Division of Paediatric Otolaryngology-Head and NeckSurgery Cincinnati Children’s Hospital Medical Centre Department of Otolaryngology-Head and Neck Surgery University of Cincinnati College of Medicine Cincinnati, USA. David Albert FRCS Senior Consultant ENT Surgeon Department of Otolaryngology Great Ormond Street Hospital for Children London, UK. Christopher P Aldren MA FRCS (ENG) FRCS (ORL-HNS) Consultant Otolaryngologist Wexham Park Hospital Slough, UK. Sue Archbold PhD (HON) LLD Consultant on Research, Public Policy and Practice on Deafness and Hearing Loss, Cochlear Implantation and Deaf Education Consultant to The Ear Foundation Marcus Atlas MBBS FRACS Garnett Passe and Rodney Williams Memorial Foundation Chair Otolaryngology Head and Neck Surgery Director, Ear Science Institute Australia Ear Sciences Centre University of Western Australia. Patrick R Axon MD FRCS (ORL-HNS) Consultant Otologist and Skull Base Surgeon Department of Otolaryngology, Cambridge University Hospitals Cambridge, UK.
Doris-Eva Bamiou MD MSc FRCP PhD Professor in Neuroaudiology Honorary Consultant in Audiovestibular Medicine MSc in Otology & Audiology (UCL) Course CoDirector UCL Ear Institute Royal National Throat Nose Ear Hospital London, UK. Anil Banjeree MBBS FRCS FRCS(ORL-HNS) Consultant ENT Surgeon/Honorary Senior Lecturer University Hospitals of Leicester/Leicester University Medical School Leicester, UK. Jane A Baran PhD Professor and Chair Department of Communication Disorders University of Massachusetts Amherst Amherst, USA. Neil Bateman BMedSci BM BS FRCS (ORL-NHS) Consultant Paediatric Otolaryngologist Royal Manchester Children’s Hospital Manchester, UK. Helen Benghiat FRCR Consultant Clinical Oncologist (Neuro-Oncology) Hall-Edwards Radiotherapy Research Group Cancer Centre Queen Elizabeth Hospital Birmingham, UK. Crispin Best MBBS FRCA Consultant in Paediatric Anaesthesia Department of Anaesthesia Royal Hospital for Sick Children Glasgow, UK.
ix
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x Contributors
Thanos Bibas Cert Math MSc PhD FRCSI(Otol) Assistant Professor in Otolaryngology University of Athens Athens, Greece Honoray Reader UCL Ear Institute London, UK. Maria Bitner-Glindzicz BSc MBBS DCH FRCP PhD Professor of Clinical and Molecular Genetics Genetics and Genomic Medicine Programme UCL Institute of Child Health; and Great Ormond Street Hospital for Children London, UK. Arnold JN Bittermann MD PhD ENT Surgeon (special interest Paediatric ENT) University Medical Center Utrecht The Netherlands. Kate Blackmore FRCS(ORL-HNS) MClinEd ENT Consultant and Honorary Clinical Senior Lecturer The James Cook University Hospital Middlesbrough, UK. Derek Bosman FRCS ENT Consultant The James Cook University Hospital Middlesborough, UK. Ian D Bottrill BM FRCS FRCS(ORL) Consultant ENT Surgeon Oxford University Hospital NHS Trust; and Honorary Senior Lecturer University of Oxford John Radcliffe Hospital Oxford, UK. An Boudewyns MD PhD Antwerp University Hospital Department of Otorhinolaryngology, Head and NeckSurgery Edegem, Belgium. Julius Bourke MBBS MRCPsych Principal Investigator: The Brain in Pain Study Clinical Senior Lecturer in Neurophysiology and Clinical Psychiatry Honorary Consultant Liaison Psychiatrist Centre for Psychiatry Wolfson Institute for Preventive Medicine Barts and The London School of Medicine and Dentistry London, UK. David A Bowdler MBBS FRCS (GEN SURG) FRCS (OTOLARYN) Consultant ENT Surgeon
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Adolfo M Bronstein MD PhD FRCP Professor of Clinical Neuro-otology Head, Neuro-otology Unit, Division of Brain Sciences, Imperial College London Consultant Neurologist Charing Cross Hospital (Imperial NHS) National Hospital for Neurology and Neurosurgery, Queen Square (UCLH) London, UK. Stephen Broomfield FRCS Consultant Otologist University Hospitals Bristol NHS Foundation Trust Bristol, UK. George G Browning MD FRCS Emeritus Professor of Otorhinolaryngology/Head and Neck Surgery University of Glasgow; and Visiting Professor to the MRC/CSO Institute of Hearing Research Glasgow, UK. Iain Bruce MD FRCS(ORL-HNS) Consultant Paediatric Otolaryngologist Royal Manchester Children’s Hospital Manchester, UK. Alan D Cameron FRCOG FRCP(Glas) MD MBChB Consultant Obstetrician and Subspecialist in Maternal and Fetal Medicine The Ian Donald Fetal Medicine Unit Southern General Hospital; and Honorary Professor University of Glasgow Glasgow, UK. A Simon Carney BSc (HONS) MBChB FRCS FRACS MD Associate Professor and Head of ENT Unit Flinders University and Flinders Medical Centre Adelaide, South Australia. Per Caye-Thomasen MD DMSc Associate Professor Ear, Nose and Throat Department Gentofte Hospital, University of Copenhagen Hellerup, Denmark. Swarupsingh Chavda MBChB DMRD FRCR Consultant Diagnostic & Interventional Neuroradiologist Queen Elizabeth Hospital Birmingham, UK. Linnea Cheung BSc(HONS) MBChB MRCS-DOHNS Speciality Registrar in Otorhinolaryngology Severn Deanery Gloucestershire, UK.
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Contributors xi
Raymond W Clarke BA BSC DCH FRCS FRCS(ORL) Consultant Paediatric Otolaryngologist Royal Liverpool University Children’s Hospital Alder Hey Liverpool, UK. W Andrew Clement FRCS MBChB Consultant Paediatric Otolaryngologist Department of Paediatric Otolaryngology Royal Hospital for Sick Children Yorkhill Glasgow, UK. Lesley Cochrane BSc FRCS Consultant Paediatric Otolaryngologist Great Ormond Street Hospital for Children London, UK. Steve Colley MB ChB MRCS FRCR Consultant Head & Neck Radiologist Queen Elizabeth Hospital Birmingham, UK. Chris Coulson PhD FRCS (ORL-HNS) Consultant Otolaryngologist NIHR Clinical Lecturer, Otolaryngology Head and Neck Surgery School of Cancer Sciences, University of Birmingham Queen Elizabeth Hospital Birmingham, UK. Soumit Dasgupta MBBS DLO MS FRCS MSc FIAOHNS Consultant Audiovestibular Physician and Neurotologist Alder Hey Children’s NHS Foundation Trust, Liverpool Sheffield Vertigo and Balance Centre, Sheffield Honorary Tutor, University of Manchester Manchester, UK.
Harvey Dillon BEng PhD Senior Research Scientist National Acoustic Laboratories Visiting Professor of Auditory Science University of Manchester; and Adjunct Professor Macquarie University Sydney, Australia. Adam J Donne PhD FRCS (ORL-HNS) Consultant Paediatric Otolaryngologist Alder Hey Children’s NHS Foundation Trust Liverpool, UK. Neil Donnelly MSc FRCS (ORL-HNS) Consultant ENT Surgeon Department of Neuro-otology and Skull Base Surgery Cambridge University Teaching Hospitals NHS Trust Cambridge, UK. Sunil N Dutt MS DNB PhD FRCS (ED) FRCS (ORL-HNS) DLO(ENG) DORL
Professor, Senior Consultant and Clinical Director Department of Otolaryngology and Head and Neck Surgery Apollo Group of Hospitals Bangalore, India. D Gareth R Evans MBBS MRCP MD FRCP Medical Genetics and Cancer Epidemiology Manchester University Manchester, UK. Louisa Ferguson BSc FRCS(ORL-HNS) Cleft Fellow Evelina London Children’s Hospital London, UK.
Katharine Davies MBBCh MRCS (DOHNS) ENT Registrar Aintree University Hospital Liverpool, UK.
Andrew Forge PhD MSc BSc Emeritus Professor of Auditory Cell Biology UCL Ear Institute London, UK.
Rosalyn A Davies FRCP PhD Honorary Consultant in Audio-Vestibular Medicine The National Hospital for Neurology and Neurosurgery London, UK.
Jonathon Gale PhD Professor of Auditory Cell Biology and Interim Director UCL Ear Institute London, UK.
Sujata De FRCS(ORL-HNS) Consultant Paediatric ENT Surgeon Alder Hey Children’s Hospital Liverpool, UK.
Julian Gaskin MBChB FRCS (ORL-HNS) DOHNS Consultant ENT Surgeon University Hospitals Bristol NHS Foundation Trust Bristol Royal Hospital for Children Bristol, UK.
Maarten de Wolf MD PhD Consultant ENT Surgeon AMC Amsterdam The Netherlands.
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xii Contributors
Michael Gleeson MD FRCS FRACS FDS Professor of Otolaryngology and Skull Base Surgery Institute of Neurology University College London Consultant, Guy’s, Kings and St Thomas’ and the National Hospital for Neurology and Neurosurgery Honorary Consultant Skull Base Surgeon Great Ormond Street Hospital for Sick Children London, UK. Wilko Grolman MD PhD Professor of Otorhinolaryngology Department of Otorhinolaryngology, Head and Neck Surgery University Medical Centre Utrecht Utrecht, The Netherlands. Graham Haddock MBChB MD FRCS(GLAS) FRCS(PAED)
William PL Hellier FRCS(ORL-HNS) Consultant Paediatric Otolaryngologist Great Ormond Street Hospital for Children London, UK. Geoffrey Heyes PhD Lead Physicist for Stereotactic Radiotherapy Hall-Edwards Radiotherapy Research Group Cancer Centre Queen Elizabeth Hospital Birmingham, UK. Malcolm P Hilton MA BM BCh FRCS (ENG) FRCS (ORL-HNS) Consultant Otolaryngologist Royal Devon and Exeter Hospital; and Clinical Sub-Dean University of Exeter Medical School Exeter, UK.
FFST(EDIN)
Consultant Neonatal and Paediatric Surgeon Royal Hospital for Children Glasgow, UK Honorary Clinical Associate Professor University of Glasgow Glasgow, UK. Lucy Handscomb MSc Clinical Scientist Module Co-ordinator (Rehabilitation, Counselling Skills, Tinnitus UCL Ear Institute London, UK. Jonathan P Harcourt MA FRCS Consultant ENT Surgeon Charing Cross Hospital London, UK. Suzanne Harrigan BSc Speech & Language Therapist The Ear Foundation Nottingham, UK. Catherine K Hart MD Assistant Professor of Otolaryngology, Head and NeckSurgery Division of Paediatric Otolaryngology, Head and NeckSurgery Cincinnati Children’s Hospital Medical Centre; and Department of Otolaryngology, Head and Neck Surgery University of Cincinnati College of Medicine Cincinnati, USA. Benjamin EJ Hartley MBBS BSc FRCS(ORL-HNS) Consultant Paediatric Otolaryngologist Great Ormond Street Hospital for Children London, UK. James Hayden PhD FRCPCH Mb ChB Consultant Paediatric Oncologist Alder Hey Children’s NHS Foundation Trust Liverpool, UK.
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Sophie J Hollis MRCS (DO-HNS) ENT Registrar University Hospitals Bristol Bristol, UK. Ian Hore FRCS (ORL-HNS) ENT Consultant Evelina London Children’s Hospital London, UK. Helen Howard MSc Hall-Edwards Radiotherapy Research Group Cancer Centre, Queen Elizabeth Hospital Birmingham, UK. Charlie Huins MSc FRCS (ORL-HNS) Consultant ENT Surgeon Specialising in Otology Queen Elizabeth Hospital Birmingham, UK. Alison Hunt FRCS Consultant Otolaryngologist Milton Keynes General Hospital Milton Keynes, UK. S Musheer Hussain MBBS MSc (MANC) FRCS (EDIN) FRCS(ENG) FFST FRCS (ORL)
Consultant Otolaryngologist Head and Neck Surgeon Honorary Professor of Otolaryngology and Consultant ENT Surgeon; and Licenced Teacher of Anatomy Ninewells Hospital & University of Dundee Medical School Dundee, UK. Richard M Irving MD FRCS (ORL-HNS) Consultant in Neurotology University Hospital Birmingham NHS Trust and Diana Princess of Wales (Birmingham Children’s) Hospital Honorary Senior Lecturer University of Birmingham Birmingham, UK.
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Contributors xiii
Georgia Jackson MBBS MRCPCH PG D(AUDIOVESTIB MED(DIST)
Previously Consultant Community Paediatrician Royal Berkshire Hospital NHS Foundation Trust Reading, UK. Chris Jephson BSc FRCS (ORL HNS) Consultant Paediatric Otolaryngologist Great Ormond Street Hospital for Children London, UK. Nico Jonas MBChB FRCS FCORL(SA) MMed Consultant Paediatric Otolaryngologist Addenbrooke’s Hospital Cambridge University Hospital Foundation Trust Cambridge, UK. Gerard Kelly MB ChB MD Med FRCS(ED) FRCS(ORL-HNS) Consultant ENT and Skull Base Surgeon Leeds Teaching Hospitals NHS Trust Honorary Senior Lecturer in Otolaryngology University of Leeds Leeds, UK. Veronica Kennedy MBBS FRCS MSc Consultant Audiovestibular Physician Bolton NHS Foundation Trust Halliwell Children’s Centre Bolton, UK. Ameet Kishore MBBS(AFMC) FRCS(GLAS) FRCS(EDIN) FRCS-ORL(UK)
Ear Nose Throat Neuro-Otology & Cochlear Implants Director & Chief Consultant, ADVENTIS (Advanced ENT Service) Senior. Consultant Surgeon & Professor, Indraprastha Apollo Hospitals Founder & Managing Trustee, I Can Hear Foundation ENT OPD, Indraprastha Apollo Hospitals New Delhi, India. Haytham Kubba MBBS MPhil MD FRCS(ORL-HNS) Associate Professor Department of Paediatrics University of Melbourne; and Consultant Otolaryngologist Royal Children’s Hospital Parkville, Australia. Jeyanthi Kulasegarah MD FRCS (ORL-HNS) Fellow in Neurotology University Hospital Birmingham NHS Trust and Diana Princess of Wales Hospital University of Birmingham Birmingham, UK.
Thushitha Kunanandam MBChB FRCS(ORL-HNS) Consultant Paediatric Otolaryngologist Royal Hospital for Children Glasgow, UK. Michael Kuo PhD FRCS (Eng) FRCS (ORL-HNS) DCH Consultant Otolaryngologist – Head and Neck Surgeon Birmingham Children’s Hospital Birmingham, UK. Jeremy Lavy MBBS (LON) FRCS (ENG) FRCS (ORL-HNS) Consultant Otologist Royal National Throat and Ear Hospital London, UK. Rachael Lawrence MBBS BSc ENT Registrar East MidlandsDeanery Leicester, UK. Nicholas Leahy AuD Clinical Audiologist Louisville Kentucky, USA. Annabelle CK Leong MBBS (HONS)(LOND) BSc (HONS) DOHNS FRCS (ORL-HNS)
Consultant ENT Surgeon/Otologist Singapore Medical Specialists Centre Paragon. Polona Le Quesne Stabej DVM PhD Research Associate Centre for Translational Genomics – GOSgene Genetics and Genomic Medicine Programme UCL Great Ormond Street Institute of Child Health London, UK. Tristram HJ Lesser AKC MBBS FRCSEd MS FHKCORL Consultant ENT Surgeon Renacres Hospital NHS Treatment Centre Lancashire, UK. Joe J Leyon MBBS MRCP FRCR Consultant Diagnostic & Interventional Neuroradiologist Royal Preston Hospital Lancashire, UK. Gerald Libby FRCP FRCPsych Professor of Gastrointestinal Psychiatry King Edward VII Hospital; and Barts and The London School of Medicine and Dentistry London, UK.
Raghu Nandhan Sampath Kumar MS DNB MRCS (ED) DOHNS FRCS (ORL-HNS) MCh PhD
Clinical Fellow in Neurotology and Skull Base Surgery Queen Elizabeth University Hospitals NHS FoundationTrust Birmingham, UK.
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xiv Contributors
Simon KW Lloyd MBBS BSc(HONS) MPhil FRCS(ORL-HNS) Professor of Otolaryngology Consultant Otolaryngologist Department of Otolaryngology Salford Royal Hospital; and Department of Otolaryngology Manchester Royal Infirmary Manchester academic Health Science Centre University of Manchester Manchester, UK. James W Loock MBChB (UCT) FCS(SA)ORL FRCS (ENG) ad eundem
Professor and Head Department of Otorhinolaryngology University of Stellenbosch Tygerberg Hospital Cape Town, South Africa. Linda M Luxon CBE BSc FRCP Emeritus Professor of Audiovestibular Medicine UCL; and Honorary Consultant Physician in Neuro-otology National Hospital for Neurology and Neurosurgery, UCLHNHS Trust London, UK. Caroline J MacEwan MBChB MD FRCS FRCOphth
Josephine E Marriage BSc Speech Science MSc AudiologyPhD
Clinical Scientist in Audiology Director at Chear Ltd., Director at Chear Ltd., Bermondsey; and Research Associate Cambridge University Cambridge, UK. Andrew Marshall FRCS Consultant Otologist Nottingham University Hospitals NHS Trust Nottingham, UK. Michael Maslin MSc PhD Audiologist and International Clinical Trainer Interacoustics Academy Middelfart, Denmark. Liam Masterton FRCS ORL-HNS Department of Neuro-otology and Skull Base Surgery Cambridge University Teaching Hospital NHS Trust Cambridge, UK. Luke McCadden MB BCh FRCS(ORL-HNS) Specialist Registrar Otolaryngology Royal Victoria Hospital Belfast, UK.
FFSEMFRCP(ED)
Consultant Ophthalmologist Ninewells Hospital Dundee; and Professor of Ophthamology University of Dundee Dundee, UK. Fiona MacGregor MBChB FRCS (ORL-HNS) Consultant Otolaryngologist Gartnavel General Hospital Galsgow, UK. Samuel AC MacKeith MBChB FRCS(ORL-HNS) Consultant ENT Surgeon Department of Otolaryngology John Radcliff Hospital Oxford, UK. Leen K Maes PhD Professor and Doctor (Audiologist) Department of Speech, Language and Hearing Sciences Faculty of Medicine and Health Sciences Ghent University Ghent, Belgium. Elizabeth Marks D Clin Psy Clinical Psychologist Royal National Throat, Nose & Ear Hospital London, UK.
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Andrew McCombe MC FRCS Consultant ENT Surgeon Mediclinic City Hospital, Dubai; and Adjunct Clinical Professor of Surgery Mohammed bin Rashid University Medical School Dubai, UAE. Don McFerran BA MA MB BChir FRCS FRCS (ORL-HNS) Consultant ENT Surgeon Colchester Hospital University NHS Foundation Trust Colchester General Hospital Colchester, UK. Laurence McKenna M Clin Psychol PhD Clinical Psychologist Royal National Throat, Nose & Ear Hospital London, UK. Rania Mehanna MBBChBAO BMedSci FRCS(ORL-HNS) Paediatric ENT Consultant Our Lady’s Children’s Hospital Crumlin Private Clinic Dublin, Ireland. Peter Monksfield FRCS (ORL-HNS) Consultant ENT and Skull Base Surgeon University Hospitals Birmingham Birmingham, UK.
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Contributors xv
Mary-Louise Montague MBChB(Hons) PGDipClinEd FRSC(ORL-HNS)
Consultant Paediatric Otolaryngologist, Honorary Clinical Senior Lecturer The Royal Hospital for Sick Children Edinburgh, UK. Gavin AJ Morrison MA MBBS FRCS Consultant ENT Surgeon Guy’s, St Thomas’ and Evelina Hospitals London, UK. Daniel Moualad MA MRCS Specialist Registrar in Otolaryngology Oxford Deanery Oxford, UK. Payal Mukherjee MBBS MS FRACS Clinical Associate Professor University of Sydney Executive Member - RACS NSW Committee ENT Research Lead - RPA Institute of Academic Surgery Adult and Paediatric ENT Surgeon Otologist, Cochlear Implant and Skull Base Surgeon Sydney, Australia. Louisa Murdin PhD MRCP Consultant Audiovestibular Physician Guy’s Hospital London, UK. Cristina FB Murphy PhD Specialist Audiologist Cromwell Hospital London, UK. Frank E Musiek PhD Professor Speech, Language, and Hearing Sciences University of Arizona Tucson, USA. Kurdow Nader MBBS MSC FRCR Consultant Diagnostic & Interventional Neuroradiologist Queen Elizabeth Hospital Birmingham, UK. Raj Nandi FRCS MSc Consultant in Audio-Vestibular Medicine Department of Neuro-otology Royal National Throat, Nose and Ear Hospital London, UK. Antony Narula FRCS FRCS(ED) Consultant ENT Surgeon Professor of Otolaryngology London, UK. Abdul-Karim Nassimizadeh MBChB, BMedSci, MRCS (ENT) ENT Specialty Registrar University Hospital Birmingham Birmingham, UK.
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Jaya Nichani FRCS(ORL-HNS) Consultant Paediatric Otolaryngologist Royal Manchester Children’s Hospital Manchester, UK. Rupert Obholzer BA(Oxon), MBBS, FRCS (ORL-HNS) Consultant ENT / Skull Base Surgeon Guys Hospital, Kings College Hospital; and The National Hospital for Neurology and Neurosurgery London, UK. Katherine Ong B App Sci (Speech Path) MA (Appl Ling) Speech Pathologist Royal Children’s Hospital Parkville, Australia. Peter O’Sullivan Bsc MPhil FRCSI (ORL-HNS) Clinical Fellow, Neurotology Department of Otolaryngology Sir Charles Gairdner Hospital Nedlands, Western Australia. Glynis Parker MB ChB FRCP DCH MSc Audiovestibular Physician Sheffield Children’s Hospital Sheffield, UK. John JP Patten BSc MB FRCP Consultant Neurologist (retired) South West Thames Regional Health Authority London, UK. Marousa Pavlou PhD BA MCSP Lecturer in Physiotherapy Centre of Human and Aerospace Physiological Sciences King’s College London London, UK. John Phillips BSc(HONS) MBBS MRCS(ENG) FRCS(ORL-HNS) Consultant ENT Surgeon Norfolk & Norwich University Hospitals NHS Foundation Trust Norfolk, UK. David D Pothier MSc MBChB FRCS (ORL-HNS) Staff Neurologist Assistant Professor University of Toronto; and Department of Otolaryngology, Head and Neck Surgery Toronto General Hospital University Health Network Toronto, Canada. Harry RF Powell MBBS BSc DOHNS FRCS (ORL-HNS) Consultant ENT Auditory Implant Surgeon Guy’s and St Thomas’ NHS Foundation Trust London, UK.
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xvi Contributors
Steven Powell MBBS MSc FRCS(ORL) Consultant Paediatric Otolaryngologist Newcastle-Upon-Tyne NHS Foundation Trust Newcastle-Upon-Tyne, UK.
Natalie Ronan FRCS (ORL-HNS) Consultant ENT Surgeon Torbay Hospital Torbay, UK
Chris H Raine MBE ChM FRCS(ORL-HNS) Consultant ENT Surgeon Yorkshire Auditory Implant Service Listening for Life Centre Bradford Royal Infirmary Bradford, UK.
Scott A Rutherford MBChB FRCSEd(NEURO SURG) Consultant Neurosurgeon Department of Neurosurgery Salford Royal NHS Foundation Trust Manchester, UK.
Gunesh P Rajan MD DM FMH FRACS Professor & Head of Otolaryngology, Head & Neck Surgery Otolaryngology, Head & Neck Surgery School of Surgery University of Western Australia Perth, Australia. James Ramsden FRCS PhD ENT Consultant & Honorary Clinical Lecturer University of Oxford; and ENT Department John Radcliff Hospital Oxford, UK. Shankar Rangan MBBS DLO FRCS MSc Consultant Audiovestibular Physician Wirral University Teaching Hospital NHS Trust Wirral, UK. Peter A Rea MA FRCS (ENG) FRCS (ORL-HNS) Consultant Otolaryngologist Leicester Royal Infirmary Leicester, UK. Catherine Rennie BSc MBBS DOHNS PhD FRCS ENT Consultant Charing Cross Hospital Imperial College Healthcare NHS Trust. Peter J Robb BSc(HONS) MBBS FRCS FRCS (ED) Consultant ENT Surgeon Epsom & St Helier University Hospitals NHS Trust Epsom, UK. Benjamin Robertson BDSc(HONS) MBBS PGDiP OMS FRACDS (OMS) FRCS (OMFS)
Craniofacial and Oral & Maxillofacial Surgeon Alder Hey Children’s Hospital Supra-Regional Craniofacial Unit Liverpool, UK. Philip J Robinson MB ChB FRCS FRCS (OTOL) Consultant Adult & Paediatric Otolaryngologist University Hospitals Bristol NHS Trust Bristol, UK.
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Michael J Rutter MBChB FRACS Professor of Otolaryngology – Head and Neck Surgery Division of Paediatric Otolaryngology – Head and Neck Surgery Cincinnati Children’s Hospital Medical Center; and Department of Otolaryngology – Head and Neck Surgery University of Cincinnati College of Medicine Cincinnati, USA. Shakeel R Saeed MD FRCS (ORL) Clinical Director RNTNEH Professor of Otology/Neuro-otology UCL Ear Institute Consultant ENT and Skullbase Surgeon The Royal National Throat, Nose & Ear Hospital and National Hospital for Neurology and Neurosurgery London, UK. Marina Salorio-Corbetto PhD AFHEA Research Associate Department of Experimental Psychology University of Cambridge Cambridge, UK. Yougan Saman MBBCh MSc FCORL(SA) PhD Head of Department Nelson R Mandela School of Clinical Medicine University of KwaZulu-Natal Durban, South Africa. Paul Sanghera FRCR Consultant Clinical Oncologist (Neuro-oncology/ Head& Neck) University Hospitals Birmingham NHS Foundation Trust Queen Elizabeth Hospital, Queen Elizabeth Medical Centre Birmingham, UK. Mike Saunders MD FRCS Consultant Otolaryngologist Bristol Royal Hospital for Children and St Michael’s Hospital Bristol, UK. David J Scott BA Dip Clin Psy (Otago) Clinical Psychologist Royal National Throat, Nose & Ear Hospital London, UK.
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Contributors xvii
Fiona Shackley Consultant Paediatrician (Allergy and Immunology) Sheffield Children’s Hospital Sheffield, UK. Rosemary Simmons BSc Radiotherapy Lead Manager Hall-Edwards Radiotherapy Research Group Cancer Centre Queen Elizabeth Hospital Birmingham, UK. Ajay Sinha MS MCh FRCS(SN) Consultant Neurosurgeon Alder Hey Children’s NHS Foundation Trust Liverpool, UK. Tony Sirimanna MBBS DLO(RCS-UK) FRCS(ED) FRCP
Holger H Sudhoff MD PhD FRCS (LON) FRCPath (LON) Professor and Chairman Department of Otolaryngology, Head and Neck Surgery Bielefeld Academic Teaching Hospital Münster University Bielefeld, Germany. Iain RC Swan MD FRCS Consultant Otologist Glasgow Royal Infirmary Glasgow, UK. Rinze A Tange MD PhD UHD Associate Professor of Otology Department of ORL, Head and Neck Surgery Academic Medical Centre University of Amsterdam Amsterdam, The Netherlands.
MS(OTO) MSc
Consultant Audiological Physician Great Ormond Street Hospital for Children NHS Foundation Trust London, UK.
Ravi Theyasagayam FRCS(ORL-HNS) Consultant ENT Surgeon Sheffield Children’s Hospital Sheffield, UK.
Christopher J Skilbeck MPhil FRCS Consultant ENT Surgeon Guy’s & St Thomas’ NHS Foundation Trust London, UK.
Mirko Tos† MD DMSc Emeritus Professor Ear, Nose and Throat Department Gentofte Hospital, University of Copenhagen Hellerup, Denmark.
Cheka R Spencer MSc FRCS (ORL_HNS) ENT Specialist Registrar University Hospitals Birmingham Birmingham, UK. Susan Standring MBE PhD DSc FKC FRCS(HONS) Emeritus Professor of Anatomy Department of Anatomy King’s College London, UK. Sven-Eric Stangerup MD DMSc Associate Professor Ear, Nose and Throat Department Gentofte Hospital, University of Copenhagen Hellerup, Denmark. Nicola E Starritt MBBS MD FRCS(ORL-HNS) Consultant Paediatric Otolaryngologist The Royal Hospital for Sick Children Edinburgh, UK. Kate Stephenson FRCS FCORL-HNS(SA) MMed Consultant Paediatric Otorhinolaryngologist Head and Neck Surgeon Birmingham Children’s Hospital Birmingham, UK.
Stephen C Toynton MB FRCS(OTOL)(ENG) FRCS(ORL) Consultant Otolaryngologist Hawke’s Bay Soldier’s Memorial Hospital Hastings, New Zealand; and Honorary Consultant Plymouth Hospital’s NHS Trust, UK Former Otology Advisor to Diving Diseases Research Centre and Hyperbaric Medical Unit Plymouth, UK. Keith G Trimble MB MCh MPhil FRCS(ORL-HNS) Consultant Paediatric Otolaryngologist Royal Belfast Hospital for Sick Children Belfast, UK. Daniel J Tweedie MA FRCS (ORL-HNS) DCH Consultant Paediatric ENT, Head and Neck Surgeon Evelina London Children’s Hospital NHS Trust Guildford, UK. Peter Valentine BSc FRCS (ORL-HNS) Consultant Otologist and ENT Surgeon Royal Surrey County Hospital NHS Trust Guildford, UK.
†
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deceased
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xviii Contributors
Vincent WFM Van Rompeaey MD PhD Senior staff member Antwerp University Hospital FacultY of Medicine and Health Sciences University of Antwerp Belgium.
Peter-John Wormald MD FRACS FRCS (EDIN) FCS (SA) MBChB Chairman and Professor of Otolaryngology Head and Neck Surgery Professor of Skull Base Surgery University of Adelaide Adelaide, Australia.
Astrid Webber BSc MBBS FRCP Consultant in Clinical Genetics Liverpool Women’s NHS Foundation Trust Liverpool, UK.
Tony Wright LLM DM FRCS Tech RMS Emeritus Professor of Otorhinolaryngology UCL Ear Institute London, UK.
Inge Wegner MD PhD Resident Otorhinolaryngology and Head and NeckSurgery University Medical Centre Utrecht Utrecht, The Netherlands.
Pensee Wu MRCOG MD (RES) DFSRH MBChC Honorary Consultant Obstetrician and Subspecialist in Maternal and Fetal Medicine Lecturer in Obstetrics and Gynaecology University if Keele; and Department of Obstetrics and Gynaecology University Hospital of North Staffordshire Stoke-on-Trent, UK.
Jeffrey Weihing PhD CCC-A, FAAA Audiologist Maine Medical Center Maine, USA Justin Weir MBBS MD FRCPath Consultant Head and Neck Pathologist Charing Cross Hospital; and Imperial College Healthcare Trust London, UK.
Floris L Wuyts PhD Professor, Faculty of Sciences Lab of Biophysics and Biomedical Physics Antwerp University Research Center for Equilibrium and Aerospace Antwerp, Belgium.
Claire Westrope MBCHB MRCPCH Consultant PICU/ECMO Clinical Lead PICU/CICU University Hospitals Leicester NHS Trust Leicester, UK
Michelle Wyatt MA (CANTAB) FRCS (ORL-HNS) Consultant Paediatric Otolaryngologist Head of Clinical Service for ENT, Cochlear Implant and Audiology Great Ormond Street Hospital London, UK.
Paul S White MBChB FRACS FRCS (Ed) Consultant Rhinologist, Ninewells Hospital Honorary Senior Lecturer, University of Dundee Dundee, UK.
David M Wynne MB ChB PgDip FRCS Consultant Paediatric Otolaryngologist Royal Hospital for Children Glasgow, UK.
Ian Williamson MD FRCSEd FRCGP Clinical Senior Lecturer School of Medicine, Primary Care & Population Sciences University of Southampton Southampton, UK.
May MC Yaneza FRCS-ORL PGDip PGCert DOHNS MRCS
Sally A Wood MSc Consultant Clinical Scientist (Audiology) NHS Newborn Hearing Screening Programme UK National Screening Committee/NHS Screening Programmes Public Health England London, UK.
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MBBS BSc
ENT Registrar West of Scotland Department of Paediatric Otolaryngology Royal Hospital for Sick Children Glasgow, UK. Philip D Yates MB ChB FRCS (ORL-HNS) Consultant Otolaryngologist Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne, UK.
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Foreword The eighth edition of Scott-Brown signals the beginning of a new and exciting era for ear, nose and throat surgeons, and also the end of 10years of very hard work undertaken by John Watkinson and Ray Clarke, the Editors-in-Chief, their team of subeditors and, not least, the publishers. Whatever subspeciality the current generation of trainees decides to follow, they will all have to read and refer to Scott-Brown in order to complete their education and gain accreditation. It will be a constant companion and guide throughout their professional lives. When asked to write the foreword for this edition, I was immediately reminded that I had read John Ballantyne and John Groves’s third edition as a trainee, bought the fourth edition as a senior registrar, written chapters for Alan Kerr and Philip Stell in the fifth edition, edited the Basic science volume of the fifth edition and was ultimately Editor-in-Chief of the seventh edition. As each edition takes about 10years to produce, that makes me very old indeed. John and Ray have one final task as Editors-in-Chief: to recommend their successors to the publishers. That was made easy for me as both of them had proved themselves more than capable with the previous edition, and the eighth edition is now their masterpiece. They can enjoy the next 10years as thousands of surgeons worldwide recognize and thank them for their industry. This edition reflects the continued expansion of our speciality into fields that Scott-Brown himself could
never have imagined. It lays the groundwork for the current generation to make their contribution that will, no doubt, be prompted by technological developments, an evidence base of what is wise and what is not, together with the experience gained by teamwork with other clinicians in today’s multidisciplinary approach to patient care. Simply looking at the table of contents it is clear to see that our role in endocrine surgery has increased dramatically over the last 10years. The thyroid and parathyroids now account for 30 chapters. How would Scott-Brown have viewed that when the tonsils and adenoids justify just one chapter each, and the sore throat has a mere passing reference? Times have certainly changed and ENT surgery has grown up. We have reflected on our past practices, and the evidence base for our management protocols that was emphasized in the previous edition of Scott-Brown has been taken to heart. I hope that this edition will find its way into every medical library in the world and onto every ENT surgeon’s bookshelf. It will serve and guide surgeons throughout the English-speaking world, whether they live in high- or lowincome countries. It is said that the tragedy of getting old is that we feel young. Reading these volumes makes me wish that I had my time all over again. Michael Gleeson
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Preface When we were asked to head up the editorial team for this, the eighth edition of Scott-Brown, we were mindful of Michael Gleeson’s towering achievement in bringing the seventh edition to fruition. Michael delivered a much-loved text – conceived in the early post-war years when antimicrobials, the operating microscope and the National Health Service were all in their infancy – in an entirely new format that befitted modern surgical scholarship. Authors, editors and readers alike had become acutely conscious of the need to quote high-quality evidence to guide clinical decisions; the concept of grading clinical recommendations – and, by implication, acknowledging gaps in the evidence base of our practice – was born. Recognizing the enormity of Michael’s contribution led us into the trap that has befallen every editor who has come before us; we grossly underestimated the task ahead. We had misjudged the pace of change. What began as an ‘update’ of some outdated chapters became a complete rewrite to reflect the advances that marked the decade between editions, but we were determined to keep the text to a manageable size. In the end, we have 330 chapters, but with a slightly smaller page count than the seventh edition. The basic science knowledge that underpins our clinical practice is no longer focused just on anatomy and physiology; genetics, molecular biology, new techniques for auditory implantation, information technology, new medical therapies for many old disorders together with seismic changes in endoscopic technology and in medical imaging have transformed our specialty. Today’s head and neck surgery would have been unrecognizable to the early authors and editors. Surgical oncologists have recourse to completely different treatment strategies than did their predecessors and now work as part of multidisciplinary teams. They deal with different disease patterns and vastly changed patient expectations. Thyroid and parathyroid surgery has become almost exclusively the domain of the otolaryngologist. Surgery of the pituitary fossa has come within our ambit, as has plastic and reconstructive surgery of the head and neck as well as aesthetic facial surgery. Neurotology, audio-vestibular medicine, rhinology and paediatric otolaryngology are accepted subspecialties, each with its own corpus of knowledge and skills and each warranting a sizeable section of this text. Contemporary otolaryngology is now a collection of subspecialty interests linked by common ‘stem’ training and a shared passion for looking after patients with disorders of the upper respiratory tract and the head and neck. There is a view that a single text – even a multivolume tome of this size – cannot cover the entire knowledge base of modern clinical practice. The subspecialist will, of course, need recourse to supplementary reading. The pace of change shows no sign of slowing down, but there is still a need for a comprehensive working text embracing the whole spectrum of our workload. That was the task we set our authors and section editors; we think they have done our specialty proud. In the new ‘digital’ editorial world authors create manuscripts on personal computers. They transmit chapters, figures, amendments and revisions across continents and
time zones with a few keystrokes. The bulky packages containing grainy photographic prints and the reams of paper with closely-typed and heavily scored text that accumulated on authors’ and editors’ desks are a distant memory. References, guidelines and systematic reviews are all available online; the editorial ‘red pen’ has been replaced by a cursor on the screen. This ‘new age’ has enabled us to look ever further for expertise. We are proud to have enlisted the support of authors from more than 20 countries for this edition. Scott-Brown always enjoyed particular affection and respect in Asia, Australia, Africa and the Middle East. It has been a joy to welcome authors in increasing numbers from many of these parts of the world. We are now a truly global specialty and the eighth edition fully reflects this. What has not changed is the huge time commitment authors and editors need to make. That time now has to be fitted into an increasingly pressurized work environment. Revalidation, mandatory training, more intense regulatory scrutiny, expanding administrative burdens and ever-expanding clinical commitments leave little time for scholarship. Our section editors are all busy clinicians. They have generously given their time, first instructing authors, cajoling them and then editing their chapters, virtually all of which have been completely rewritten since the last edition. Each author was chosen because of his or her specific clinical and scientific expertise and none has disappointed. Authors and section editors receive no reward other than the satisfaction of knowing that they have made a contribution to teaching and learning in a specialty that has given us all so much professional satisfaction. We are profoundly grateful to them and hope that their endeavours spur the next generation of otolaryngologists to carry on this noble tradition. Scott-Brown simply wouldn’t happen without this generous and dedicated commitment, unstintingly and graciously given. It is impossible to produce a book like Scott-Brown without the contribution of many individuals working behind the scenes. We would like to express our gratitude to our Publishers, Taylor and Francis, and to the staff who have worked on this project from its early days in 2011 to publication in 2018. In particular we would like to mention Cheryl Brandt who with good humour and patience helped to reel in many of the 330 chapters. Miranda Bromage joined the team in 2016 and her publishing experience and enthusiasm for medical education have helped guide this new edition through its final phases to publication. Finally, we are indebted to Nora Naughton who has dedicated so much more than just her extensive publishing skills to this project. Nora’s meticulous attention to detail, combined with her warmth and wisdom have encouraged us all at the end of this endeavour. We are truly ‘passing on the torch’ of a huge amount of accumulated knowledge and wisdom; it is this that gives us, the Editors-in-Chief, the greatest pleasure. Read on and enjoy, our thoughts are yours. RWC JCW xxi
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I wish to acknowledge the love, happiness and inspiration that have been passed on to me by both my parents and grandparents. I recognise and value the friendship of my dear friend Ray Clarke who has been with me all the way on this rewarding and worthwhile endeavour. I would specifically like to thank Esme, Helen and William, without whom none of this would have been achievable. Their love and support has helped guide me through the years leading up to the publication of this tome, and my final thanks go to Angela Roberts and Sally Holden for their typing and editing skills. JCW 2018 Thanks to my wife Mary for her patience and support. My parents, Emmet and Doreen Clarke, both sadly died during the preparation of this book. They would have been proud to have played a part in such a scholarly enterprise. RWC 2018
Black Hut on the River Test – Pastel by W G Scott-Brown – circa 1970. Reproduced by kind permission of Mr Neil Weir, who was presented with the original by the artist.
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A Tribute to Bill Scott-Brown
Walter Graham (‘Bill’) Scott Brown. 1897–1987 Walter Graham (‘Bill’) Scott-Brown was twenty-three when he arrived at Corpus Christi College Cambridge in 1919. One of the generation of young men whose entry to university and the professions was delayed by their participation in the First World War, he had joined the Gunners in 1915 as an 18-year-old. He considered himself blessed to have survived – although wounded – when so many of his contemporaries never returned from the Front. In those early post-WW1 years the medical school at St Bartholomew’s (‘Barts’) in London was keen to attract ‘gentlemen’. To this end a series of scholarships – ‘Shuter’s scholarships’ – was established to lure those with humanities degrees from Oxford and Cambridge into medicine. It was via this scheme that the young Scott-Brown qualified MB, BCh in 1925. By now married to Margaret Bannerman, one of the very few women medical graduates of her generation, the two established a general practice in Sevenoaks, Kent. His work here involved looking after children with poliomyelitis, which was then commonplace, and his MD thesis was on poliorelated bulbar palsy. It earned him the Copeman Medal for research from the University of Cambridge. While working in general practice, Bill pursued his interest in the then fledgling specialty of otolaryngology, securing fellowships from London and Edinburgh. Postgraduate training was haphazard; there were no structured programmes or even junior posts, so the young Scott-Brown was fortunate to be awarded a Dorothy Temple Cross Travelling Fellowship. Mrs Florence Temple Cross had set up these awards (now administered by the Medical Research Council) in memory of her daughter, who died in 1927 aged thirty-two.
Theywere made available to young physicians to help them travel to overseas centres specifically to study tuberculosis, then rampant and one of the commonest causes of death in young adults. The young Scott-Brown visited the leading pioneers of the day in Berlin, Vienna, Budapest, Stockholm, Copenhagen, Madrid and Venice. Here he developed his considerable endoscopy skills. He reported that his first bronchoscopies were done on a Venetian street entertainer who, for a few coins, would inhale sundry objects that the doctors would then dexterously retrieve from his main stem and segmental bronchi – without of course any anaesthesia! Times were lean on Scott-Brown’s return. Margaret (‘Peggy’) was now a popular and well-established GP who supported him as his private practice developed. Eventually he secured appointments at East Grinstead, the Royal National and Royal Free Hospitals. He had a thriving Harley Street practice and was the favoured otolaryngologist of the aristocracy. His reputation was such that he become laryngologist to the Royal family, was appointed Commander of the Victorian Order and was a particular favourite of the then Princess Royal, HRH Mary the Countess of Harewood. By 1938 he was wealthy enough to purchase a farm in Buckinghamshire where he bred prize-winning shorthorn cattle. Ironmongery and blacksmith work were hard to come by during the war years, so Scott-Brown prided himself on his ability to make his own agricultural implements, cartwheels and farm wagons in a makeshift forge he himself established on the farm. He would while away endless hours here at weekends following a busy week in London. An accomplished fly fisherman, he was part of the exclusive Houghton Club whose members fished the River Test in Hampshire, where he numbered aristocrats including the Prince of Wales among his circle. Scott-Brown’s celebrated textbook came about in the early 1950s, when he became ill with jaundice and heart trouble. He was advised to rest, and took 6 months off work. Not satisfied with editing what has become the standard UK textbook, he took up painting as well. He became a celebrated artist whose work is still prized in many private collections. One of his pastels is reproduced on the preceding page. Bill Scott-Brown lived to be 90. He died in July 1987, six weeks after his beloved Peggy and just as the fifth edition of the celebrated textbook that still bears his name was going to press. His legacy lives on in the pages of this book, and we are proud to continue the tradition of scholarship and learning which he established all those years ago. We would like to thank Martin Scott-Brown for his help in compiling the biography above. John C. Watkinson and Raymond W. Clarke London, 2018 xxiii
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Acknowledgements We acknowledge our debt of gratitude to the many authors who have contributed to previous editions of Scott-Brown’s Otorhinolaryngology, and in particular to authors from the seventh edition, published in 2008. We are also grateful to Neil Bateman who helped with the initial planning of the Paediatrics section. Chapter 10, Management of the hearing impaired child, contains some material from ‘Investigation management of deaf child’ by Sujata De, Sue Archbold and Ray Clarke. The material has been revised and updated by the current author. Chapter 28, Stridor, contains some material from ‘Acute laryngeal infections’ by Susanna Leighton. The material has been revised and updated by the current author.
Chapter 97, Imaging of the temporal bone, contains some material from ‘Anatomy of the skull base and infratemporal fossa’ by Charlie Huins. The material has been revised and updated by the current author. Chapter 106, Non-vestibular schwannoma tumours of the cerebellopontine angle, contains some material from ‘Evaluation of the skull base patient’ by Ranit De and Richard M Irving. The material has been revised and updated by the current author.
Chapter 31, Acquired laryngotracheal stenosis, contains some material from ‘Jugular foramen lesions and their management’ by Kees Graamans. The material has been revised and updated by the current author.
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Volume 1 – Table of Contents Section 1 Basic sciences Cell biology 1: Molecular biology Michael Kuo, Richard M. Irving and Eric K. Parkinson 2: Genetics in otology and neurotology Mohammed-Iqbal Syed 3: Gene therapy Seiji B. Shibata and Scott M. Graham 4: Mechanisms of anticancer drugs Sarah Payne and David Miles
17: Human papillomavirus Mustaffa Junaid and Hisham M. Mehanna 18: Connective tissue diseases: ENT complications Eileen Baildam Microbiology 19: Microorganisms Ursula Altmeyer, Penelope Redding and Nitish Khanna 20: Viruses and antiviral agents Richard B. Townsley, Camille A. Huser and ChrisHansell
5: Radiotherapy and radiosensitizers Christopher D. Scrase, Stewart G. Martin and DavidA.L.Morgan
21: Fungal infections Emily Young, Yujay Ramakrishnan, Laura Jackson and Shahzada K. Ahmed
6: Apoptosis and cell death Angela Hague
22: Antimicrobial therapy Ursula Altmeyer, Penelope Redding and Nitish Khanna
7: Stem cells Navin Vig and Ian C. Mackenzie
23: Human immunodeficiency virus Neil Ritchie and Alasdair Robertson
8: Aetiology and pathogenesis of goitre Neil Sharma and Kristien Boelaert
Haematology
9: Genetics of endocrine tumours Waseem Ahmed, Prata Upasna and Dae Kim
24: Blood groups, blood components and alternatives totransfusion Samah Alimam, Kate Pendry and Michael F. Murphy
Wound healing 10: Soft and hard tissue repair Sarah Al-Himdani and Ardeshir Bayat 11: Skin flap physiology Colin MacIver and Stergios Doumas 12: Biomaterials, tissue engineering and their application in the oral and maxillofacial region Kurt Busuttil Naudi and Ashraf Ayoub Immunology 13: Defence mechanisms Ian Todd and Richard J. Powell 14: Allergy: Basic mechanisms and tests Sai H.K. Murng 15: Evaluation of the immune system Moira Thomas, Elizabeth Drewe and Richard J. Powell 16: Cancer immunology Osama Al Hamarneh and John Greenman
25: Haemato-oncology Robert F. Wynn and Mark Williams 26: Haemostasis: Normal physiology, disorders of haemostasis and thrombosis Elizabeth Jones and Russell David Keenan Pharmacotherapeutics 27: Drug therapy in otology Wendy Smith 28: Drug therapy in rhinology Wendy Smith 29: Drug therapy in laryngology and head and necksurgery Wendy Smith and Rogan Corbridge Perioperative management 30: Preparation of the patient for surgery Michael Murray and Urmila Ratnasabapathy 31: Recognition and management of the difficult airway Valerie Cunningham and Alistair McNarry xxv
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xxvi Volume 1 – Table of Contents 32: Adult anaesthesia Daphne A. Varveris and Neil G. Smart
48: Image-guided surgery, 3D planning and reconstruction Ghassan Alusi and Michael Gleeson
33: Adult critical care Robert I. Docking and Andrew Mackay
49: Interventional techniques James V. Byrne
34: Paediatric intensive care Louise Selby and Robert Ross Russell
50: Laser principles in otolaryngology, head and necksurgery Brian J.G. Bingham
Safe and effective practice 35: Training, accreditation and the maintenance of skills B. Nirmal Kumar, Andrew Robson, Omar Mirza and Baskaran Ranganathan
51: Contact endoscopy of the upper aerodigestivetract Mario Andrea and Oscar Dias
Section 2 Head and neck endocrine surgery
36: Communication and the medical consultation Uttam Shiralkar
Overview
37: Clinical governance and its role in patient safety and quality improvement Samit Majumdar and S. Musheer Hussain
52: History of thyroid and parathyroid surgery Waraporn Imruetaicharoenchoke, Ashok R. Shaha and Neil Sharma
38: Medical ethics Paul Baines
53: Developmental anatomy of the thyroid and parathyroid glands Julian A. McGlashan
39a: Medical jurisprudence in otorhinolaryngology Maurice Hawthorne 39b: Medical negligence in otorhinolaryngology Maurice Hawthorne 40: Non-technical skills for ENT surgeons Simon Paterson-Brown and Stephen R. Ell Interpretation and management of data 41: Epidemiology Jan H.P. van der Meulen, David A. Lowe and Jonathan M. Fishman 42: Outcomes research Iain R.C. Swan and William Whitmer 43: Evidence-based medicine in medical education and clinical practice Phillip Evans 44: Critical appraisal skills Paul Nankivell and Christopher Coulson
54: Developmental anatomy of the pituitary fossa John Hill and Sean Carrie 55: Physiology of the thyroid and parathyroid glands Martin O. Weickert 56: Physiology of the pituitary gland Mária Hérincs, Karen Young and Márta Korbonits 57: Imaging in head and neck endocrine disease Steve Colley and Sabena Fareedi 58: Thyroid and parathyroid gland pathology Ram Moorthy, Sonia Kumar and Adrian T. Warfield Thyroid disease 59: Clinical evaluation of the thyroid patient Andrew Coatesworth and Sebastian Wallis 60: Investigation of thyroid disease Anthony P. Weetman
Advances in technology
61: Benign thyroid disease Christopher M. Jones and Kristien Boelaert
45: Electrophysiology and monitoring Patrick R. Axon and Bruno M.R. Kenway
62: Management of differentiated thyroid cancer Hisham M. Mehanna, Kristien Boelaert and Neil Sharma
46: Optical coherence tomography Jameel Muzaffar and Jonathan M. Fishman
63: Management of medullary thyroidcancer Barney Harrison
47: Recent advances in technology Wai Lup Wong and Bal Sanghera
64: Management of anaplastic thyroid cancer/lymphoma James D. Brierley and Richard W. Tsang
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Volume 1 – Table of Contents xxvii 65: Management of locoregionally recurrent differentiated thyroid cancer Iain J. Nixon and Ashok R. Shaha
81: Medicolegal aspects of head and neck endocrinesurgery Barney Harrison
66: Non-surgical management of thyroid cancer Laura Moss
Pituitary disease
Thyroid surgery
82: Clinical evaluation of the pituitary patient Sean Carrie, John Hill and Andrew James
67: Thyroidectomy Ricard Simo, Iain J. Nixon and Ralph P. Tufano
83: Investigation of pituitary disease Thozhukat Sathyapalan and Stephen L. Atkin
68: Surgery for locally advanced and nodal disease Joel Anthony Smith and John C. Watkinson
84: Primary pituitary disease Christopher M. Jones and John Ayuk
69: Minimally invasive and robotic thyroid surgery Neil S. Tolley
85: Surgical management of recurrent pituitary tumours Mihir R. Patel, Leo F.S. Ditzel Filho, Daniel M. Prevedello, Bradley A. Otto and Ricardo L. Carrau
70: Surgery for the enlarged thyroid Neeraj Sethi, Josh Lodhia and R. James A. England
86: Adjuvant treatment of pituitary disease Andy Levy
Parathyroid disease 71: Clinical evaluation of hypercalcaemia Mo Aye and Thozhukat Sathyapalan 72: Investigation of hyperparathyroidism M. Shahed Quraishi 73: Management of hyperparathyroidism Neil J.L. Gittoes and John Ayuk 74: Management of persistent and recurrent hyperparathyroidism David M. Scott-Coombes 75: Management of parathyroid cancer Pamela Howson and Mark Sywak Parathyroid surgery 76: Bilateral parathyroid exploration R. James A. England and Nick McIvor 77: Minimally invasive parathyroidectomy Parameswaran Rajeev and Gregory P. Sadler 78: Surgical failure and reoperative surgery Schelto Kruijff and Leigh Delbridge Thyroid and parathyroid outcomes 79: Complications of thyroid and parathyroid surgery and how to avoid them Erin A. Felger, Dipti Kamani and GregoryW.Randolph 80: Thyroid and parathyroid surgery: Audit and outcomes David Chadwick
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Section 3 Rhinology 87: Anatomy of the nose and paranasal sinuses Dustin M. Dalgorf and Richard J. Harvey 88: Outpatient assessment Martyn L. Barnes and Paul S. White 89: Physiology of the nose and paranasal sinuses Tira Galm and Shahzada K. Ahmed 90: Measurement of the nasal airway Ron Eccles 91: Allergic rhinitis Quentin Gardiner 92: Non-allergic perennial rhinitis Jameel Muzaffar and Shahzada K. Ahmed 93: Occupational rhinitis Hesham Saleh 94: Rhinosinusitis: Definitions, classification and diagnosis Carl Philpott 95: Nasal polyposis Louise Melia 96: Fungal rhinosinusitis Eng Cern Gan and Amin R. Javer 97: Medical management for rhinosinusitis Claire Hopkins 98: Surgical management of rhinosinusitis A. Simon Carney and Raymond Sacks
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xxviii Volume 1 – Table of Contents 99: The frontal sinus Salil Nair
109: Granulomatous conditions of the nose Joanne Rimmer and Valerie J. Lund
100: Mucoceles of the paranasal sinuses Darlene E. Lubbe
110: Abnormalities of smell Richard L. Doty and Steven M. Bromley
101: Complications of rhinosinusitis Stephen Ball and Sean Carrie
111: Disorders of the orbit Nithin D. Adappa and James N. Palmer
102: The relationship between the upper and lower respiratory tract Nigel K.F. Koo Ng and Gerald W. McGarry
112: Diagnosis and management of facial pain Rajiv K. Bhalla and Timothy J. Woolford
103: Nasal septum and nasal valve Shahram Anari and Ravinder Singh Natt 104: Nasal septal perforations Charles East and Kevin Kulendra 105: Management of enlarged turbinates Andrew C. Swift and Samuel C. Leong 106: Epistaxis Gerald W. McGarry 107: Nasal and facial fractures Dae Kim and Simon Holmes
113: Juvenile angiofibroma Bernhard Schick 114: Endoscopic management of sinonasal tumours Alkis J. Psaltis and David K. Morrissey 115: Surgical management of pituitary and parasellar diseases Philip G. Chen and Peter-John Wormald 116: Extended anterior skull base approaches Carl H. Snyderman, Paul A. Gardner, JuanC.Fernandez-Miranda and Eric W. Wang 117: Imaging in rhinology Gregory O’Neill
108: CSF leaks Scott M. Graham
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Volume 3 – Table of Contents Section 1 Head and Neck 1: History Patrick J. Bradley 2: Aetiology of head and neck cancer Pablo H. Montero, Snehal G. Patel and Ian Ganly 3: Epidemiology of head and neck cancer Kristen B. Pytynia, Kristina R. Dahlstrom and Erich M. Sturgis
18: Metastatic neck disease Vinidh Paleri and James O’Hara 19: Principles and practice of radiotherapy in head and neck cancer Sara Meade and Andrew Hartley 20: Quality of life and survivorship in head and neck cancer Simon Rogers and Steve Thomas
4: Staging of head and neck cancer Nicholas J. Roland
21: Palliative care for head and neck cancer Catriona R. Mayland and John E. Ellershaw
5: The changing face of cancer information Richard Wight
22: Transoral laser microsurgery Mark Sayles, Stephanie L. Koonce, Michael L. Hinni and David G. Grant
6: Introducing molecular biology of head and neck cancer Nikolina Vlatković and Mark T. Boyd 7: Nasal cavity and paranasal sinus malignancy Cyrus Kerawala, Peter Clarke and Kate Newbold 8: Nasopharyngeal carcinoma Raymond King-Yin Tsang and Dora Lai-Wan Kwong 9: Benign salivary gland tumours Jarrod Homer and Andy Robson 10: Malignant tumours of the salivary glands Vincent Vander Poorten and Patrick J. Bradley 11: Tumours of the parapharyngeal space Suren Krishnan 12: Oral cavity tumours including lip reconstruction Tim Martin and Omar A. Ahmed 13: Oropharyngeal tumours Terry M. Jones with Mererid Evans 14: Tumours of the larynx Vinidh Paleri, Stuart Winter, Hannah Fox and NachiPalaniappan 15: Rehabilitation after total laryngectomy Yvonne Edels and Peter Clarke
23: Anatomy as applied to transoral surgery Mark Puvanendran and Andrew Harris 24: Chemotherapy Charles G. Kelly 25: Cysts and tumours of the bony facial skeleton Julia A. Woolgar and Gillian L. Hall 26: Head and neck pathology Ram Moorthy, Adrian T. Warfield and Max Robinson 27: Open conservation surgery for laryngeal cancer Volkert Wreesman, Jatin Shah and Ian Ganly 28: Measures of treatment outcomes Helen Cocks, Raghav C. Dwivedi and AoifeM.I.Waters 29: Applications of robotics in head and neck practice Chris Holsinger, Chafeek Tomeh and Eric M. Genden 30: Biologically targeted agents in head and neck cancers Kevin J. Harrington and Magnus T. Dillon 31: Prosthetic rehabilitation of head and neck defects Chris Butterworth
16: Management of hypopharyngeal cancer Prathamesh Pai, Deepa Nair, Sarbani Ghosh Laskar and Kumar Prabhash
32: Multidisciplinary team working Andrew Davies, Nigel Beasley and David Hamilton
17: Neck metastases from an unknown primary Ricard Simo, Jean-Pierre Jeannon and Maria Teresa Guerrero Urbano
33: Nutritional considerations Rachael Donnelly, Susannah Penney, Sian Lewis, Lesley Freeman and Pippa Lowe xxix
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xxx Volume 3 – Table of Contents 34: Speech voice and swallow rehabilitation after chemoradiation Justin W.G. Roe and Katherine A. Hutcheson 35: Surgical anatomy of the neck Laura Warner, Christopher Jennings and John C. Watkinson 36: Clinical examination of the neck James O’Hara 37: Imaging of the neck Ivan Zammit-Maempel 38: Neck trauma Andrew J. Nicol and Johannes J. Fagan 39: Benign neck disease Ricard Simo, Jean-Pierre Jeannon and Enyinnaya Ofo 40: Neck space infections James W. Moor 41: Anatomy and embryology of the mouth and dentition Barry K.B. Berkovitz 42: Benign oral and dental disease Konrad S. Staines and Alexander Crighton 43: Salivary gland anatomy Stuart Winter and Brian Fish
53: Oesophageal diseases Shajahan Wahed and S. Michael Griffin 54: Neurological disease of the pharynx Kim Ah-See and Miles Bannister 55: Rehabilitation of swallowing disorders Maggie-Lee Huckabee and Sebastian Doeltgen 56: Chronic aspiration Guri S. Sandhu and Khalid Ghufoor 57: Temporomandibular joint disorders Andrew Sidebottom 58: Anatomy of the larynx and tracheobronchial tree Nimesh N. Patel and Shane Lester 59: Physiology of the larynx Lesley Mathieson and Paul Carding 60: Voice and speech production Paul Carding and Lesley Mathieson 61: Assessment and examination of the larynx Jean-Pierre Jeannon and Enyinnaya Ofo 62: Evaluation of the voice Julian A. McGlashan
44: Physiology of the salivary glands Mriganke De and T. Singh
63: Structural disorders of the vocal cords Yakubu Gadzama Karagama and Julian A. McGlashan
45: Imaging of the salivary glands Daren Gibson and Steve Colley
64: Functional disorders of the voice Paul Carding
46: Non-neoplastic salivary gland diseases Stephen R. Porter, Stefano Fedele and Valeria Mercadante
65: The professional voice Declan Costello and Meredydd Harries
47: Anatomy of the pharynx and oesophagus Joanna Matthan and Vinidh Paleri 48: Physiology of swallowing Joanne Patterson and Stephen McHanwell 49: Causes and assessment of dysphagia and aspiration Helen Cocks and Jemy Jose 50: Functional investigations of the upper gastrointestinal tract Joanne Patterson and Jason Powell 51: Pharyngitis Sharan Jayaram and Conor Marnane 52: Cricopharyngeal dysphagia Nimesh N. Patel and T. Singh
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66: Speech and language therapy for voice disorders Marianne E. Bos-Clark and Paul Carding 67: Phonosurgery Abie Mendelsohn and Marc Remacle 68: Movement disorders of the larynx Declan Costello and John S. Rubin 69: Acute infections of the larynx Sanjai Sood, Karan Kapoor and Richard Oakley 70: Chronic laryngitis Kenneth MacKenzie 71: Contemporary management of laryngotracheal trauma Carsten E. Palme, Malcolm A. Buchanan, ShrutiJyothi, Faruque Riffat, Ralph W. Gilbert andPatrick Gullane
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Volume 3 – Table of Contents xxxi 72: Upper airway obstruction and tracheostomy Paul Pracy and Peter Conboy
85: Nasal reconstruction Ullas Raghavan
73: Physiology of sleep and sleep disorders John O’Reilly
86: Pinnaplasty Victoria Harries and Simon Watts
74: Obstructive sleep apnoea: Medical management Dev Banerjee
87: Blepharoplasty Brian Leatherbarrow
75: The surgical management of snoring and obstructive sleep apnoea Bhik Kotecha and Mohammed Reda Elbadawey
88: Surgical rejuvenation of the ageing face Gregory S. Dibelius, John M. Hilinski and Dean M. Toriumi
76: Laryngotracheal stenosis in adults Guri S. Sandhu and S.A. Reza Nouraei
89: Non-surgical rejuvenation of the ageing face Lydia Badia, Peter Andrews and Sajjad Rajpar
77: Reflux disease Mark G. Watson and Kim Ah-See
90: History of reconstructive surgery Ralph W. Gilbert and John C. Watkinson
78: Paralysis of the larynx Lucian Sulica and Babak Sadoughi
91: Grafts and local flaps in head and neck cancer Kenneth Kok and Nicholas White
79: Outpatient laryngeal procedures Matthew Stephen Broadhurst
92: Pedicled flaps in head and neck reconstruction Ralph W. Gilbert and John C. Watkinson
Section 2 Plastic Surgery 80: Rhinoplasty following nasal trauma Charles East 81: Pre-operative assessment for rhinoplasty Hesham Saleh and Catherine Rennie 82: External rhinoplasty Santdeep Paun 83: Revision rhinoplasty Claudia Rudack and Gerhard Rettinger 84: Aesthetic dorsal reduction rhinoplasty Julian M. Rowe-Jones
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93: Reconstructive microsurgery in head and neck surgery John C. Watkinson and Ralph W. Gilbert 94: Benign and malignant conditions of the skin Murtaza Khan and Agustin Martin-Clavijo 95: Facial reanimation surgery Demetrius Evriviades and Nicholas White 96: Partial and total ear construction Cher Bing Chuo 97: A combined prosthetic and surgical approach Hitesh Koria, M. Stephen Dover and Steve Worrollo
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Abbreviations 2D 3D 4D 5-HT
two-dimensional three-dimensional four-dimensional 5-hydroxytryptamine
AJCC ALD ALPS ALR ALS
A AABR AAHL AAOHNS
adenine; or anterior automated auditory brainstem response age-associated hearing loss American Academy of Otolaryngologists/ Head and Neck Surgeons aspiration biopsy cytology airway, breathing, circulation, disability and exposure air–bone gap auditory brainstem implant auditory brainstem response; or acoustic brainstem-evoked response acute bacterial rhinosinusitis air conduction; or alternating coupled; or auditory cortex; or acquired cholesteatoma adenoid cystic carcinoma; or American College of Cardiology acoustic hearing devices angiotensin-converting enzyme array comparative genomic hybridization acetylcholine acoustic hearing devices acetylcholine receptor Aid for Children with Tracheostomies; or acceptance and commitment therapy adrenocorticotrophic hormone Alzheimer’s disease; or autosomal dominant attention deficit disorder antidiuretic hormone attention deficit hyperactivity disorder auditory evoked potentials atrial fibrillation; or anterior fontanelle alphafetoprotein allergic fungal rhinosinusitis apnoea/hypopnoea index apoptotic index anterior inferior cerebellar artery acquired immunodeficiency syndrome autoimmune ear disorders
ALSPAC
ABC ABCDE ABG ABI ABR ABRS AC ACC ACD ACE aCGH ACh ACHD AchR ACT ACTH AD ADD ADH ADHD AEP AF AFP AFRS AHI AI AICA AIDS AIED
ALTB ALTE AMA AMEI AML AN AN/AD ANCA ANSD AOAE AOM AP APD APHAB APLS APMET APTT APUD AQP2 ARHL ARNSHL ARS ARSAC ART a-SCC ASD ASHA ASPO ASSR AT
American Joint Committee on Cancer assistive listening device autoimmune lymphoproliferative syndrome auditory late responses advanced life support; or amyotrophic lateral sclerosis Avon Longitudinal Study of Parents and Children acute laryngotracheobronchitis apparent life-threatening event American Medical Association active middle ear implant acute myeloid leukaemia; or anterior malleal ligament acoustic neuroma; or auditory neuropathy; or audiovestibular nerve auditory neuropathy/auditory dyssynchrony antineutrophil cytoplasmic antibody auditory neuropathy spectrum disorder automated otoacoustic emission acute otitis media anteroposterior; or action potential auditory processing disorder Abbreviated Profile of Hearing Aid Benefit Advanced Paediatric Life Support aggressive papillary middle ear tumour activated partial thromboplastin time amine precursor uptake and decarboxylation aquaporin 2 age-related hearing loss autosomal recessive non-syndromic hearing loss acute rhinosinusitis Administration of Radioactive Substances Advisory Committee acoustic reflex threshold; or advanced rotating tomograph; or antiretroviral therapy anterior semicircular canal autistic spectrum disorders American Speech-Language-Hearing Association American Society of Pediatric Otolaryngologists auditory steady state response ataxia telangiectasia; or auditory therapy or training; or autotransplantation
xxxii
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Abbreviations xxxiii
ATD ATN ATP AV AVF AVM AVP AVPU aVOR BAAP BAC BAHA BAO-HNS BAPO BC BC-FMT BCG BCHA BCHD BCHI BCI BET BiPAP BKB BLEC BLEL BLS BM BMI BMP BNOE BOA BOR BP BPPV BPV BRBNS BRUE BS BSA BTE BTK BTO
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ascending tract of Deiters auriculotemporal nerve adenosine triphosphate apical vesicles; or arteriovenous arteriovenous fistula arteriovenous malformation Amplatzer vascular plug; or arginine vasopressin alert, voice, pain, unresponsive angular VOR bone-anchored auricular prosthesis bacterial artificial chromosome bone-anchored hearing aid British Association of Otorhinolaryngologists– Head and Neck Surgeons British Association for Paediatric Otolaryngology bone conduction bone conduction floating mass transducer Bacillus Calmette–Guérin bone conductor hearing aid bone conduction hearing device bone conducting hearing implants bone conduction implant balloon Eustachian tuboplasty bilevel positive airway pressure Bamford-Kowal-Bench benign lymphoepithelial cysts benign lymphoepithelial lesions Basic Life Support basilar membrane body mass index bone morphogenetic protein; or bone morphogenic protein benign necrotizing otitis externa behavioural observation audiometry brachio-oto-renal blood pressure benign paroxysmal positional vertigo benign paroxysmal vertigo; or benign positional vertigo blue rubber bleb naevus syndrome brief resolved unexplained event Behcet’s syndrome; or brain stem British Society of Audiology behind the ear B-cell antigen receptor; or Bruton’s tyrosine kinase balloon test occlusion
CAD CAGE CAM2
caspase-activated DNase cerebral air gas embolism a prescription rule for amplification. It is the second version of a rule devised by Dr Moore and colleagues at Cambridge University CAMHS child and adolescent mental health service cAMP 3’,5’-monophosphate; or Cyclic AMP CAMREST Cambridge method for loudness restoration CANS central auditory nervous system CANVAS cerebellar atrophy, neuropathy, vestibular arreflexia syndrome CAP compound action potential; or category of auditory performance; or College of American Pathologists CAPD central auditory processing disorder CAT combined approach tympanoplasty CBCT cone beam CT CBNS congenital bony nasal stenosis CBT cognitive-behavioural therapy CC congenital cholesteatoma CCA common carotid artery; or congenital canal atresia CCD charge-coupled device CCR chemokine receptor CCSS Childhood Cancer Survivor Study CCT Consonant Confusion Task CCW counter-clockwise CDC Centers for Disease Control and Prevention CDP computerized dynamic posturography CEA carcinoembryonic antigen CERA cortical evoked response audiometry CF cystic fibrosis; or characteristic frequency CFRT conformal radiotherapy CFTR cystic fibrosis transmembrane conductance regulator CFU colony-forming unit CGH comparative genomic hybridization CH congenital haemangiomas CHA conventional hearing aids CHABA Committee on Hearing, Bioacoustics, and Biomechanics CHAMP cochlear hydrops analysis masking procedure CHAOS congenital high airway obstruction syndrome CHARGE coloboma, heart defects, atresia choanae, retardation of growth, genital anomalies and ear abnormalities CHAT Childhood Adenotonsillectomy Trial CHD congenital heart disease CHL conductive hearing loss CI cochlear implantation; or cardiac index; or confidence interval; or concha inferior
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xxxiv Abbreviations
CIC cis-DPP CISS CJD CL CM CMAP CMCC CMT CMV CN CNAP CNLDO CNS CNV CO2 COM COMT COR COSI COWS COX-2 CP CPA CPAP CPO CRH CRIDE CRM CROS CRP CRS CS CSD CSDD CSF CSOM CT CSSD CTME CTR CTSIB CUSA
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completely in canal cis-dichlorodiammine platinum II constructive interference in steady state Creutzfeldt–Jakob disease cleft lip capillary malformation; or concha media; or cochlear microphonic; or cricothyroid muscle compound muscle action potential congenital midline cervical cord/cleft Charcot−Marie−Tooth; or combined modality therapy cytomegalovirus cranial nerve; or cochlear nuclei; or cochlear nerve; or congenital nystagmus cochlear nerve action potential congenital nasolacrimal duct obstruction central nervous system copy number variations carbon dioxide chronic otitis media catechol-O-methyltransferase conditioned orientation reflex Client Oriented Scale of Improvement cold-opposite-warm-same cyclo-oxygenase 2 cleft palate; or cuticular plate cerebellopontine angle continuous positive airway pressure cleft palate only corticotrophin-releasing hormone Collaboration for Research in Deaf Education canalith repositioning manoeuvre contralateral routing of signal or sound C-reactive protein; or canalith repositioning procedure chronic rhinosinusitis; or congenital rubella syndrome corticosteroid chronic subjective dizziness cervical spine degenerative disease cerebrospinal fluid chronic suppurative otitis media computed tomography; or conventional thyroidectomy cervical spine degenerative disease carcinoid tumour of the middle ear cricotracheal resection Clinical Test of Sensory Integration and Balance cavitational ultrasonic surgical aspirator
CVA CVID CW CWD CWU
cerebrovascular accident common variable immune deficiency clockwise canal wall down canal wall up
DACI DACS dB dBEML dBHL dB SPL DCR DDHS DFO DHE DHI DM DNA DNSI DO DoH DP DPOAE DPTA DQ DSA DSFS DSL DSS
direct acoustic cochlear implant direct acoustic cochlear stimulation decibel decibel effective masking level decibel hearing level decibel sound pressure level dacryocystorhinostomy Direct Drive Hearing System deferoxamine mesylate dihaematoporphyrinether dizziness handicap inventory diabetes mellitus deoxyribonucleic acid deep neck space infection distraction osteogenesis Department of Health directional preponderance distortion product otoacoustic emission diethylenetriamine penta-acetic acid drooling quotient digital subtraction angiography Drooling Severity and Frequency Scale desired sensation level disease-specific survival; or Department of Social Security diffusor tensor imaging diethylene triamine pentacetic acid descending vestibular nuclei diffusion-weighted image diffusion-weighted magnetic resonance imaging
DTI DTPA DVN DWI DW-MRI E EA EABR EAC
exposure episodic ataxia; or early antigen electrical auditory brainstem external auditory canal; or external acoustic canal EAM external auditory meatus EANONO European Academy of Otology and Neurotology EAS electric acoustic stimulation EBV Epstein–Barr virus ECA external carotid artery ECAP electrically evoked compound action potential ECCO2R extracorporeal carbon dioxide removal
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Abbreviations xxxv
ECG ECLA ECLS ECM ECMO ECog ECPR EE
ETD ETT ETV EU EUA EVAS EXIT
electrocardiogram extracorporeal lung-assisted extracorporeal life support extracellular matrix extracorporeal membrane oxygenation electrocochleography extracorporeal cardiopulmonary resuscitation external frontoethmoidectomy; or excitation–excitation endoscopic endonasal approach electroencephalography; or electroencephalogram endoscopic ear surgery event-free survival epidermal growth factor epidermal growth factor receptor excitation–inhibition enzyme-linked immunosorbent assay European Laryngological Societies endolymphatic sac tumour extended middle fossa approach electromyography effective masking level electronystagmography electroneurography ear, nose and throat eosinophilic oesophagitis extra-oesophageal reflux extra-oesophageal reflux disease European Organisation for Research and Treatment of Cancer endolymphatic potential embryonic stem; or endolymphatic sac European Society for Immunodeficiencies European Society of Pediatric Otorhinolaryngology erythrocyte sedimentation rate endoscopic sinus surgery; or Epworth Sleepiness Scale; or empty sella syndrome essential thrombocytosis; or endotracheal tube; or Eustachian tube Eustachian tube dysfunction endotracheal tube endoscopic third ventriculostomy European Union examination under anaesthesia enlarged vestibular aqueduct syndrome extrauterine intrapartum treatment
F0 FAO
fundamental frequency far advanced otosclerosis
EEA EEG EES EFS EGF EGFR EI ELISA ELS ELST EMFA EMG EML ENG ENoG ENT EO EOR EORD EORTC EP ES ESID ESPO ESR ESS ET
K17879_Volume II_Book.indb 35
FAAF FBC FDA FDG
four alternative auditory feature full blood count Food and Drug Administration (USA) fluorodeoxyglucose; or 2-[18F] fluoro-2deoxy-D-glucose; or F18-fluoro-2-deoxy-Dglucose FDG-PET 2-[18F] fluoro-2-deoxy-D-glucose–positron emission tomography; or fluorine-18-labelled deoxyglucose positron emission tomography FDT fluorescein disappearance test FEES fibreoptic endoscopic evaluation of swallowing FESS functional endoscopic sinus surgery FGF fibroblast growth factor FIESTA fast imaging employing steady-state acquisition FIG6 a prescription rule for amplification, named after the figure in an article on which it was based fraction of inspired oxygen FiO2 FLAIR fluid attenuated inversion recovery fMRI functional magnetic resonance imaging FMT floating mass transducer FN facial nerve FNA fine-needle aspiration/aspirate FNAC fine-needle aspiration cytology FNS facial nerve schwannoma FOAR fronto-orbital advancement and remodelling FT fibrous tissue FTA-ABS fluorescent treponemal antibody test GABA GABHS GAS GCS G-CSF GDNF GERD GGF GHABP GI GLUT-1 GMC GN GOR GORD GP GRADE
gamma-aminobutyric acid group A beta-haemolytic streptococcus Goal Attainment Scaling Glasgow Coma Scale granulocyte-colony stimulating factor glial cell-derived neurotrophic factor gastrooesophageal reflux disease geniculate ganglion fossa Glasgow Hearing Aid Benefit Profile gastrointestinal glucose transporter-1 ganglion mother cell; or General Medical Council (UK) glossopharyngeal nerve gastro-oesophageal reflux gastro-oesophageal reflux disease general practitioner Grading of Evidence, Assessment, Development and Evaluation
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xxxvi Abbreviations
GSA GSPN GVA GVE
general sensory afferent greater superficial petrosal nerve general visceral afferent general visceral efferent
H2 HA HAART HADS HAPI HAT HB HBOT HCG HDU HES HHIE HHT HI Hib HIF HINTS
histamine receptor type 2 hydroxyapatite highly active antiretroviral therapy Hospital Anxiety Depression Scale Hearing Aid Performance Inventory hearing assistance technology House–Brackmann hyperbaric oxygen therapy human chorionic gonadotrophin high dependency unit Hospital Episode Statistics Hearing Handicap Inventory for the Elderly hereditary haemorrhagic telangiectasia hearing impaired Haemophilus influenzae type b hypoxia inducible factor head impulse, nystagmus characteristics, test for skew heparin-induced thrombocytopenia; or headimpulse test human immunodeficiency virus high jugular bulb hearing loss; or hearing level; or hairy leukoplakia; or Hodgkin lymphoma human leukocyte antigen history of migraine; or hemifacial microsomia heat and moisture exchanger human papillomavirus; or human herpes virus 8 hazard ratio high-resolution computed tomography horizontal semicircular canal heat shock factors hereditary sensory-motor neuropathy heat shock protein herpes simplex virus herpes simplex virus type 1 herpes simplex virus type 2 hydroxytryptamine hyalinizing trabecular adenoma; or Health Technology Assessment health visitor distraction test hertz
HIT HIV HJB HL HLA HM HME HPV HR HRCT h-SCC HSF HSMN HSP HSV HSV-1 HSV-2 HT HTA HVDT Hz IAC IAM
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internal auditory canal internal auditory meatus
IC
inferior colliculus; or immunochemistry
ICA
internal carotid artery
ICAM-1
intercellular adhesion molecule 1
ICD
International Classification of Disease
ICHD
International Classification of Headache Disorders
ICP
intracranial pressure
ICTD
intracranial tumour diameter
ICU
intensive care unit
ICVD
international classification of vestibular disorders
IDT
infant distraction test
IFN
interferon
Ig
immunoglobulin
IgA
immunoglobulin A
IgE
immunoglobulin E
IGF-1
insulin-like growth factor 1
IgG
immunoglobulin G
IgM
immunoglobulin M
IHAFF
International Hearing Aid Fitting Forum
IHC
immunohistochemistry; or inner hair cell
IHS
International Headache Society
IJV
internal jugular vein
IL-1
interleukin-1
ILD
inter-ear latency difference; or interaural intensity level difference
IMRT
intensity-modulated radiation therapy
IMSPAC
imitative test of speech pattern contrast perception
INC
interstitial nucleus of Cajal
INO
internuclear ophthalmoplegia
iNOS
inducible nitric oxide synthase
INR
international normalized ratio; or interventional neuroradiology
IPD
invasive pneumococcal disease
IQ
intelligence quotient
IRS
insulin receptor substrate; or Intergroup Rhabdomyosarcoma Study
ISJ
incudostapedial joint
ISMAR
Innsbruck Sensory Motor Activator and Regulator
ISO
International Standards Organization
ISSNHL
idiopathic sudden sensorineural hearing loss
ISSVA
International Society for the Study of Vascular Anomalies
IT
inferior turbinate; or intratympanic
ITDs
interaural time differences
ITE
in the ear
ITT
intention to treat analysis
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Abbreviations xxxvii
IUCC i.v.
International Union against Cancer intravenous
JB JCIH JNA JOF JORRP
jugular bulb Joint Committee on Infant Hearing juvenile nasopharyngeal angiofibroma juvenile ossifying fibroma juvenile recurrent respiratory papillomatosis
KADS
keratinocyte attachment destroying substance keratosis obturans; or keratizing obturans Kasabach–Merritt syndrome potassium titanyl phosphate
KO KMS KTP LA LADD LARP LCH LDH LDL
LTR LTV LVA LVAS LVN LVOR LVST
lymphangioma; or left anterior Lacrimo-auriculo-dento-digital left anterior–right posterior Langerhans’ cell histiocytosis lactic dehydrogenase low-density lipoprotein; or loudness discomfort level light-emitting diode loudness growth in octave bands language impairment linear accelerator laryngeal mask airway long-term outcomes from childhood hearing impairment loss of heterozygosity lamina papyracea; or lichen planus; or lymphocyte predominant; or left posterior; or levator palatini long process of incus laryngopharyngeal reflux lateral reticulospinal tracts lateral semicircular canal language service professional laryngotracheobronchitis; or laryngotracheobronchoscopy laryngotracheal reconstruction long-term ventilation large vestibular aqueduct large vestibular aqueduct syndrome lateral vestibular nuclei linear vestibulo–ocular reflex lateral vestibulospinal tract
M MAF
metastases; or microphone; or mastoid minimum audible field
LED LGOB LI LINAC LMA LOCHI LOH LP
LPI LPR LRST LSCC LSP LTB
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MAIS MAP MAPK MARD MBCT MBL MCF MCL MCP-1 MDCT MDT ME MEA MEG MEI MEK MELAS MEN Men C MERI MET MF MGB MHC MIBG MIP-1a MLC MLF MLR MLTB MMP-2 MMP-9 MMA MMR MOTT MPS MR MRA MRC MRI MRL mRNA MRS MRSA MRST
Meaningful Auditory Integration Scale minimum audible pressure mitogen-activated protein kinase migraine anxiety-related dizziness mindfulness-based cognitive therapy mannose-binding lectin middle cranial fossa maximum comfortable level monocyte chemotactic protein-1 Multidetector computed tomography multidisciplinary team middle ear middle ear adenoma magnetoencephalography middle ear implants MAPK/extracellular signal related kinase mitochondrial encephalopathy, lactic acidosis and stroke-like episode multiple endocrine neoplasia Meningococcus C Middle Ear Risk Index middle ear transducer; or mechanoelectrical transduction middle fossa medial geniculate body major histocompatibility complex metaiodobenzylguanidine; or iodine-123metaiodobenzylguanidine macrophage inflammatory protein-1a multi-leaf collimator medial longitudinal fascicle or fasciculus middle latency response microlaryngotracheobronchoscopy metalloproteinase-2 metalloproteinase-9 middle meningeal artery measles, mumps and rubella mycobacteria other than tuberculosis mucopolysaccharoidoses; or massive parallel sequencing magnetic resonance magnetic resonance angiography Medical Research Council (UK) magnetic resonance imaging minimal response level messenger ribonucleic acid Melkersson–Rosenthal syndrome; or magnetic resonance sialography methicillin-resistant Staphylococcus aureus medial reticulospinal tracts
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xxxviii Abbreviations
MRV MS MST MTC mtDNA mTHPC MVN MVST N NADP
migraine-related vestibulopathy multiple sclerosis maximal stimulation test medullary thyroid carcinoma mitochondrial DNA meso-tetra (hydroxyphenyl) chlorin medial vestibular nuclei medial vestibulospinal tract
nodal nicotinamide adenine dinucleotide phosphate NADPH reduced form of nicotinamide adenine dinucleotide phosphate NAI non-accidental injury NAL National Acoustic Laboratories (Australia) NAM nasoalveolar moulding NBN narrow-band noise NBCA n-butyl-2-cyanoacrylate; or N-butylcyanoacrylate NEAME neuroendocrine adenoma of the middleear NESSTAC North of England and Scotland Study on Tonsillectomy and Adenoidectomy in Children NET nerve excitability test; or neuroendocrine tumour NFκB nuclear factor kappa B NF1 neurofibromatosis type 1 NF2 neurofibromatosis type 2 NFA non-functional adenoma; or nasofrontal approach NG nasogastric NH normal hearing; or neurophypophysis NHL non-Hodgkin lymphoma NHS National Health Service (UK) NHSP Newborn Hearing Screening Programme NI nervus intermedius NICE National Institute for Health and Care Excellence (UK) NICH non-involuting congenital haemangiomas NICU nonimmunological contact urticaria; or neonatal intensive care unit NIH National Institutes of Health (USA) NIHL noise-induced hearing loss NIL noise immision level NMDA N-methyl-d-aspartate; or National Minimum Data Set (UK) NNT number needed to treat NO nitric oxide NO2 nitric dioxide
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NOD-2
nucleotide-binding oligomerization domaincontaining protein 2 NOE naso-orbito-ethmoid NP nasopharynx; or nasopharyngeal NPA nasopharyngeal airway NPC nasopharyngeal cancer; or nasopharyngeal carcinoma NPH nucleus prepositus hypoglossus NPTA National Prospective Tonsillectomy Audit (UK) NPV negative predictive value NRT neural response telemetry NSAID non-steroidal anti-inflammatory drug NSC National Screening Committee NSRAN nonsyndromic recessive auditory neuropathy NTHi non-typeable Haemophilus influenzae NTM non-tuberculous mycobacteria NU-CHIPS Northwestern University Children’s Perception of Speech OAE OAVS OCS OCT OCV OHC OKN OM OMC OME OMENS OMIM ONSM OOPS OPG OR ORL OSA OSAS OSPL OTOF OVAR oVEMP OWN
otoacoustic emission oculoauriculovertebral spectrum otic capsule sparing optical coherence tomography otic capsule violating outer hair cell optokinetic nystagmus occipitomental; or otitis media osteomeatal complex otitis media with effusion orbit, mandible, ears, nerves and soft tissue Online Mendelian Inheritance in Man optic nerve sheath meningiomas Ossiculoplasty Outcome Parameter Staging orthopantomogram; or osteoprotegerin occupational rhinitis otorhinolaryngology obstructive sleep apnoea obstructive sleep apnoea syndrome output sound pressure level otoferlin off-vertical axis rotation ocular vestibular evoked myogenic potentials oval window niche
P PACU PAIG PAM PAMR
phosphate; or posterior; or promontory post-anaesthesia care unit Paediatric Audiology Interest Group postauricular muscle artefact postauricular myogenic response
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Abbreviations xxxix
PANQOL PaNSTaR PBI p-BPPV PBT PC PCA PCD PCHI PCP PCR PCTR PCV7 PD PDB PDH PDL PDS PDT PEACH PEG PET PEWS PFAPA PFS PI PI3K PICA PICANet PICS PICU PID PIHA PIP PIVC PLF p.o. POGO PORP POSTA PP ppeSPL PPG
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Penn Acoustic Neuroma Quality of Life Paediatric and Neonatal Safe Transfer and Retrieval (PaNSTaR) primary blast injury persistent benign paroxysmal positional vertigo proton beam therapy Paediatric cholesteatoma; or processus cochleariformis patient-controlled analgesia primary ciliary dyskinesia permanent childhood hearing impairment planar cell polarity polymerase chain reaction partial cricotracheal resection heptavalent pneumococcal conjugate vaccine Parkinson’s disease Paget’s disease of bone prevention to deafness and hearing impairment pulsed dye laser; or paediatric long polydimethylsiloxane photodynamic therapy Parents’ Evaluation of Aural/Oral Performance in Children percutaneous endoscopic gastrostomy polyethylene terephthalate; or positron emission tomography; or patulous (branching) Eustachian tube paediatric early warning scores periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis progression-free survival pulsatility index; or performance-intensity phosphotidyinositol 3 posterior inferior cerebellar artery Paediatric Intensive Care Audit Network Paediatric Intensive Care Society paediatric intensive care unit primary immunodeficiency partially implantable hearing aid peak inspiratory pressure parietoinsular vestibular cortex congenital perilymphatic fistula by mouth prescription of gain and output partial ossicular replacement prosthesis Preschool Obstructive Sleep Apnoea Tonsillectomy Adenoidectomy palatopharyngeus peak-to-peak equivalent sound pressure pterygoplatine ganglion
PPI
PVRQOL
proton pump inhibitor; or patient and public involvement persistent postural-perceptual dizziness parapontine reticular formation; or paramedian pontine reticular formation phobic positional vertigo; or positive predictive value; or pneumococcal polysaccharide vaccine patient-reported outcome measure pattern recognition receptors persistent rhinosinusitis; or Pierre Robin sequence prostate-specific antigen; or pleomorphic salivary adenoma; or persistent stapedial artery posterior semicircular canal polysomnography parasolitary nucleus progressive supranuclear palsy peak Sound Pressure Level prothrombin time pure tone audiometry; or peritonsillar abscess permanent threshold shift post-traumatic stress disorder polyvinyl alcohol polyvinyl chloride pause vestibular position; or position vestibular pause Paediatric Voice-related Quality of Life
QOL QTF
quality of life Quebec Task Force
RA RAAS RALP RANKL RAST RCPCH
retinoic acid; or right anterior renin-angiotensin-aldosterone system right anterior–left posterior regulation of nuclear factor κB ligand radioallergosorbent test Royal College of Paediatrics and Child Health Royal College of Surgeons of England randomized controlled trial respiratory disturbance index real-ear aided gain Revised European American Lymphoma real ear to coupler difference rigid external distractor reference equivalent force threshold level real-ear insertion gain rapid eye movement rearranged during transfection
PPPD PPRF PPV PROM PRRs PRS PSA p-SCC PSG Psol PSP pSPL PT PTA PTS PTSD PVA PVC PVP
RCS RCT RDI REAG REAL RECD RED REFTL REIG REM RET
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xl Abbreviations
RETSPLs REZ RI RICH RIMLF RION RIP RMS RMHA RNA RNP RNS ROS RP RPR RR RRI rRNA RRP RS RSV rTMS RW SAD SAL SALT SCA SCBU SCC SCDS SCID SCM SCN SCUBA SEM SENTAC SF-36 SGS SHML SIDS SIGN
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reference equivalent sound pressure levels root entry/exit zones resistance index; or reflux index rapidly involuting congenital haemangiomas rostral interstitial nucleus of the medial longitudinal faciculus radiation induced optic neuropathy raphe interpositus root mean square; or rhabdomyosarcoma remote microphone hearing aids ribonucleic acid ribonucleoprotein reative nitrogen species reactive oxygen species rapid prototyping; or right posterior rapid plasma regain relative risk; or respiratory rate relative risk of improvement Ribosomal ribonucleic acid recurrent respiratory papillomatosis retrosigmoid respiratory syncytial virus repetitive low-frequency transcranial magnetic stimulation round window
SIMEHD
supraglottic airway device; or specific antibody deficiency sensorineural acuity level speech and language therapist superior cerebellar artery special care baby unit squamous cell carcinoma or cancer; or semicircular canal superior canal dehiscence syndrome severe combined immunodeficiency sternocleidomastoid severe congenital neutropenia; or solid cell nests; or Suprachiasmatic Nucleus self-contained underwater breathing apparatus scanning electron microscopy Society for Ear, Nose and Throat Advances in Children Medical Outcome Study Short-Form 36-Item Health Survey subglottic stenosis sinus histiocytosis with massive lymphadenopathy sudden infant death syndrome Scottish Intercollegiate Guidelines Network
SRT
SVS SVV
semi-implantable middle ear electromagnetic hearing device speech reception in noise short increment sensitivity index sensation level systemic lupus erythematosus superficial lamina propria speech and language therapist space and motion discomfort sinus histiocytosis with massive lymphadenopathy sensorineural hearing loss single-nucleotide polymorphism signal-to-noise ratio serotonin–noradrenaline (norepinephrine) reuptake inhibitors single nucleotide variants substance P; or summating potential spatial processing disorder single photon emission computed tomography surgical, prosthetic, infection, tissue, Eustachian sound pressure level squamous cell carcinoma stereotactic radiation subacute rhinosinusitis; or stereotactic radiosurgery speech recognition threshold; or speech reception threshold; or stereotactic radiotherapy superior semicircular canal superior semi-circular canal dehiscence single-sided deafness somato sensory evoked potential split skin graft sudden sensorineural hearing loss steady state potential saturation sound pressure level selective serotonin reuptake inhibitor superior turbinate; or subtotal thyroidectomy; or sinus tympani standardized uptake value special visceral afferent special visceral efferent superior vestibular nuclei; or superior vestibular nerve selective venous sampling subjective visual vertical
T T3
thymine; or tumour; or telecoil triiodothyronine
SiN SISI SL SLE SLP SLT SMD SMHL SNHL SNP SNR SNRI SNVs SP SPD SPECT SPITE SPL SqCC SR SRS
SSC SSCD SSD SSEP SSG SSNHL SSP SSPL SSRI ST SUV SVA SVE SVN
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Abbreviations xli
T4 thyroxine TARGET Trials of Alternative Regimens in Glue Ear Treatment TB tuberculosis; or Mycobacterium tuberculosis TBI traumatic brain injury 99m Tc technetium-99m TCF tracheocutaneous fistula TDT tone decay test TEOAE transient evoked otoacoustic emission TFI Tinnitus Functional Index TGF transforming growth factor TGF-α transforming growth factor alpha TGF-β transforming growth factor beta TGF-β1 transforming growth factor beta 1 Th T helper THI transient hypogammaglobulinaemia of infancy; or tinnitus handicap inventory TIA transient ischaemic attack TICA totally implantable cochlear amplifier TIVA total intravenous anaesthesia TLR toll-like receptors TM transmastoid; or tympanic membrane; or tectorial membrane TMC1 transmembrane channel-like gene 1 TMJ temporomandibular joint TMM test and tubomanometry TN trigeminal neuralgia; or trigeminal nerve TNF tumour necrosis factor TNF-α tumour necrosis factor alpha TNM tumour, node, metastasis TOAE transient evoked otoacoustic emission ToD teachers of the deaf TOE transoesophageal echocardiography; or Trichophyton, Oidiomycetes and Epidermophyton TOF tracheo-oesophageal fistula TORCH toxoplasmosis; other (such as syphilis, varicella, mumps, parvovirus and HIV); rubella; cytomegalovirus; herpes simplex TORP total ossicular replacement prosthesis TORS transoral robotic surgery TP tensor palatine TPHA Treponema pallidum haemagglutination assay; or treponemal haemagglutination TPMT thiopurine-5-methyltransferase TPN total parenteral nutrition TRH thyrotrophin-releasing hormone TRT tinnitus retraining therapy TSH thyroid-stimulating hormone; or thyrotrophin TSS transitional space surgery
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TT TTEABR TTS
thrombin time; or total thyroidectomy; or tensor tympani transtympanic electrical auditorybrainstem temporary ‘threshold shift’
UICC UHL UNHS UNICEF URTI US uVD
International Union Against Cancer unilateral hearing loss universal newborn hearing screening United Nations Children’s Fund upper respiratory tract infection ultrasound; or ultrasonography unilateral vestibular deafferentiation
VACTERL vertebral defects, anal atresia, cardiac defects, tracheo-oesophageal fistula, renal anomalies and limb abnormalities VAS visual analogue scale; or visual analogue score VATS video-assisted thoracoscopic surgery VBRT Vestibular balance rehabilitation therapy VCA viral capsid antigen; or vestibulocochlear artery VCR vestibulocollic reflex VDRL Venereal Disease Research Laboratory VEGF vascular endothelial growth factor VEGFA vascular endothelial growth factor A VEMP vestibular-evoked myogenic potential VFSS videofluoroscopic swallowing study VHI Voice Handicap Index VHIT video head impulse test VHL Von Hippel–Lindau VM venous malformations; or vestibular migraine VMA vanillylmandelic acid VN vestibular nuclei; or vagus nerve VNG videonystagmography VOG video-oculography VOR vestibulo-ocular reflex VORP vibrating ossicular prosthesis VORS vestibulo-ocular reflex suppression VP ventriculoperitoneal VPI velopharyngeal insufficiency VR vestibular rehabilitation VRA visual reinforcement audiometry V-RQOL voice-related quality of life; or Voice-related Quality of Life Questionnaire VS vestibular schwannoma; or vibrant soundbridge VSB vibrant soundbridge VSM velocity storage mechanism VSR vestibulospinal reflex
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xlii Abbreviations
VT VV vWD VZV
ventilation tubes visual vertigo von Willebrand disease varicella zoster virus
WES WGS WHO WIPI
WAD WBC WDT
whiplash-associated disorder white blood cell word discrimination threshold
WRS WVA
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whole exome sequencing whole genome sequencing World Health Organization Word Intelligibility by Picture Identification test world recognition scoring wide vestibular aqueduct
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Section 1 Paediatrics 1 Introduction to paediatric otorhinolaryngology............. 3 2 The paediatric consultation........................................... 7 3 Recognition and management of the sick child.......... 15 4 Anaesthesia for paediatric otorhinolaryngology procedures.................................................................. 23 5 The child with special needs....................................... 33 6 The child with a syndrome.......................................... 41 7 Management of the immunodeficient child................. 47 8 Hearing screening and surveillance............................ 55 9 Hearing tests in children............................................. 65 10 Management of the hearing impaired child................ 75 11 Paediatric implantation otology.................................. 93 12 Congenital middle ear abnormalities........................ 107 13 Otitis media with effusion.......................................... 115 14 Acute otitis media..................................................... 137 15 Chronic otitis media.................................................. 155 16 Microtia and external ear abnormalities.................... 165 17 Disorders of speech and language........................... 175 18 Cleft lip and palate.................................................... 185 19 Craniofacial surgery.................................................. 195 20 Balance disorders in children.................................... 219 21 Facial paralysis in children........................................ 231 22 Epistaxis.................................................................... 241 23 Neonatal nasal obstruction....................................... 251
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24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45
Paediatric rhinosinusitis and its complications......... 261 Lacrimal disorders in children................................... 279 The adenoid and adenoidectomy............................. 285 Paediatric obstructive sleep apnoea......................... 293 Stridor....................................................................... 311 Acute laryngeal infections......................................... 325 Congenital disorders of the larynx, trachea andbronchi............................................................. 333 Acquired laryngotracheal stenosis............................ 347 Juvenile-onset recurrent respiratory papillomatosis.... 367 Paediatric voice disorders......................................... 377 Foreign bodies in the ear, nose and throat................ 385 Paediatric tracheostomy........................................... 395 Perinatal airway management................................... 413 Cervicofacial infections............................................. 423 Diseases of tonsils, tonsillectomy and tonsillotomy............................................................ 435 Salivary glands.......................................................... 443 Tumours of the head and neck in childhood............. 451 Cysts and sinuses of the head and neck.................. 465 Haemangiomas and vascular malformations............ 477 Drooling and aspiration............................................. 491 Reflux and eosinophilic oesophagitis....................... 501 Oesophageal disorders in children........................... 513
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1
CHAPTER
INTRODUCTION TO PAEDIATRIC OTORHINOLARYNGOLOGY Raymond W. Clarke
History of paediatric otorhinolaryngology.......................................... 3 Developing ENT services for children................................................ 5 Training the otorhinolaryngologists of the future................................ 6
References....................................................................................... 6 Further information........................................................................... 6
SEARCH STRATEGY The author’s personal bibliography formed the basis for this chapter. Some material is reproduced from ‘Clarke’s Paediatric otolaryngology – practical clinical management’.1
HISTORY OF PAEDIATRIC OTORHINOLARYNGOLOGY Laryngology Otorhinolaryngologists have been caring for children since the specialty began. Diphtheria, epiglottitis and laryngeal tuberculosis were commonplace in children throughout the 19th and early 20th centuries. Victorian and Edwardian laryngologists such as Morell Mackenzie and Sir Felix Semon in London had large paediatric practices and dealt with these often-fatal upper respiratory tract pathologies. Semon was laryngologist to the British Royal family and undertook tonsillectomy on the grandchildren of Queen Victoria, making tonsillectomy a fashionable intervention in the drawing rooms of the aristocracy. 2–4 Gustav Killian pioneered suspension laryngoscopy in Freiburgim Breisgau at the beginning of the 20thcentury and the technique was soon taken up for children. Chevalier Jackson (Figure1.1) in Philadelphia established a reputation throughout the United States and beyond for his skills at tracheobronchoscopy. A brilliant teacher, he illustrated his work in his own hand and was probably the single most important figure to popularize airway endoscopy in children on both sides of the Atlantic. 5–7 Sophisticated diagnostic and therapeutic procedures in children are only possible because of the huge advances made in improving the survival and care of small babies. Joseph O’Dwyer (New York) is credited with the first successful emergency endotracheal intubation in a child in 1884 (Figure1.2), but the technique was associated with a
high mortality. Long-term nasal endotracheal intubation as an alternative to tracheotomy was popularized only from the 1960s onwards; paediatric otolaryngologists are acutely aware of the debt they owe to paediatricians and anaesthesiologists. Wilson published the first Englishlanguage textbook of paediatric otorhinolaryngology (ORL) in 1955 (Figure1.3) and wrote of emergency tracheotomy in children: ‘these are desperate cases at best, and it may be a comfort to remember that the worst thing which can happen is that the patient will die. This is unfortunately a likely event in any case.’8 The pioneering work of British physicist Harold Hopkins in the design of ‘rod-lens’ telescopes (Figure1.4)
Figure 1.1 Chevalier Jackson. Reproduced by kind permission of the John Q. Adams Center for the History of Otolaryngology – Head and Neck Surgery, American Academy of Otolaryngology– Head and Neck Surgery Foundation, 2007. All rights reserved.
3
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4 Section 1: Paediatrics
Figure 1.4 Paediatric airway endoscopy using Hopkins rodlens.
moved paediatric airway surgery to new levels.9 Modernday airway endoscopy in children is a highly skilled – and safe – undertaking and the fear and trepidation that surrounded tracheostomy in children is a distant memory.
Otology and audiology
Figure 1.2 Joseph O’Dwyer paper 1865.
Mastoid surgery in children was popularized by Sir William Wilde (1815–1878). Wilde described otitis media with effusion – ‘strumous otitis’, recognizing its association with Eustachian tubal dysfunction.10, 11 He advocated tympanocentesis as a treatment and pioneered the use of the myringotome (Figure1.5). He was an early advocate for the recognition and education of the deaf child, but the profession of audiology really began in the 1920s when audiometers became available. Edith Whetnall in London established a network of clinics which became a model for the assessment and treatment of hearing-impaired children; her 1964 textbook The Deaf Child was the standard work for many years.4 Cochlear implantation, developed in the 1970s and refined and improved upon throughout the next 30years, has transformed the lives of hearing-impaired children and their families in the developed world. The assessment and rehabilitation of the hearingimpaired child has advanced greatly in recent years, and paediatric audiology is an important and growing medical specialty.
Societies and associations
Figure 1.3 Frontispiece of Wilson’s textbook (1853).8
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Gatherings of otolaryngologists with an interest in ORL in children took place in Eastern Europe from the beginning of the 20th century. In the United States the Society for Ear, Nose and Throat Advances in Children (SENTAC) (https://sentac.org/) met in 1973. The American Society of Pediatric Otolaryngology (ASPO) (htpp://aspo.us/) was founded in 1985. The European Working Group in Pediatric ENT was founded in 1977 and later became the European Society of Pediatric Otorhinolaryngology (ESPO) (http://www.espo.eu.com/), a forum for discussion and advances in paediatric ORL through international
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1: INTRODUCTION TO PAEDIATRIC OTORHINOLARYNGOLOGY 5
Figure 1.5 Wilde’s myringotomy knife as illustrated by Wilde in Practical observations on aural surgery: and the nature and treatment of diseases of the ear.10
driven not by the needs of professionals but by the needs of children and families. These legitimate expectations put an onus on us as doctors and planners when setting up services for children. Despite the desirability of treating children close to home, children with unusual or complex conditions or who are in need of highly specialized intervention will have their care best delivered in one of a small number of more specialized settings, where resources and skills are concentrated. Hospitals that undertake the care of children need to commit to exemplary standards, with the involvement of senior staff in ensuring that the specific requirements of children are met.12 In a hospital with several otolaryngologists on staff, one should ideally be designated as lead for paediatrics so that he/she can advocate for children at the highest level and can coordinate management, transfer and referral of children with complex needs who may need treatment in a specialized centre. Well-established liaison networks and good communication with specialist centres, paediatricians, community paediatric services, social services, parents and advocacy groups are a cornerstone of good paediatric practice.
1
Organizing clinics and theatre Figure 1.6 Menu from Ghent 1990, foundation of BAPO.
meetings and via its journal the International Journal of Pediatric Otolaryngology. The British Association for Paediatric Otolaryngology (BAPO) (https://www. bapo.co.uk/) was formed in 1991. The idea for a British society came about at a meeting of colleagues attending the international congress at Ghent in 1990. Surviving mementos include a signed menu from the Chez Armand restaurant (Figure 1.6) (John Graham FRCS, personal communication)!
DEVELOPING ENT SERVICES FOR CHILDREN Advocating for children ORL is the specialty with the biggest paediatric surgical workload. It is important that ORL clinicians are to the fore in driving service changes forward to best serve children, families and the next generation of specialists. Up to 30–50% of our workload involves the care of children. Otolaryngologists have, and must maintain, an important role as strong advocates for children. The philosophy and thinking that influences how we care for children has undergone a radical transformation in recent years. Doctors are no longer seen as infallible. Parents are well informed and expect full participation in decision-making. They expect that their child will be treated in an environment that serves the needs of the child and family and that carers and other staff are fully trained not only in delivering health care, but also in the principles of looking after children and families. There is a growing expectation that service organization should be
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Children are best seen in a designated children’s clinic rather than in a mixed adult and children’s setting.
The clinic setting should be ‘child-friendly’ with suitable toys, papers and pens and facilities for parents and siblings (see Chapter2, The paediatric consultation). Similarly, it is nowadays accepted best practice that s urgical lists should be planned so as to permit ‘children only’ lists rather than mixed adult and child surgery.12 Theatre staff looking after children need to be suitably trained and in particular the anaesthesiologist should be competent in paediatric anaesthesia with a sufficient workload and throughput to maintain his/her skills in the peri-operative care of children. Children under the age of 3years will usually require more specialized anaesthetic care. The professional associations that govern anaesthesia in different jurisdictions have their own recommendations with which anaesthesiologists will generally be familiar. If at all possible and provided it is safe, children should be admitted and discharged on the same day (‘day’ surgery or ‘ambulatory care’). Children are best looked after in a children’s ward rather than in a mixed ward with adults, again with appropriately trained and accredited nursing staff. Provision should be made for parents, who will usually wish to stay with the child overnight. If children require overnight nursing care – for example, following adenotonsillectomy for obstructive sleep apnoea (OSA) – experienced paediatric ear, nose and throat(ENT) nurses are usually best placed to look after them. A small number of children will need more thorough monitoring and supervision, perhaps with one-to-one nursing care, oradmission to a high dependency unit (HDU) or, exceptionally, to a paediatric intensive care unit (PICU).
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6 Section 1: Paediatrics
TRAINING THE OTORHINOLARYNGOLOGISTS OF THE FUTURE The diagnosis and management of ORL conditions in children forms an essential part of the syllabus for all ENT surgeons in training. Examinations in ORL – including the European Board Examination13 – put much emphasis on this, and in general otolaryngologists are well trained in the principles of looking after children with common disorders of the upper respiratory tract.
Although subspecialization in ORL is largely ‘system’ (otology, head and neck surgery, rhinology) rather than age-based, a growing number of otolaryngologists now choose to undertake advanced training in a fellowship programme in one of the major children’s hospitals with a view to taking a special clinical interest in the care of children. In addition to basic and fellowship training, all of us who care for children need to have up-to-date knowledge and skills in topics such as child protection, prescribing for children, analgesia and paediatric resuscitation, and continue to maintain and refresh our knowledge and skills.
BEST CLINICAL PRACTICE ✓✓ Clinicians caring for children and young people should undertake a level of paediatric clinical activity that is enough to maintain minimum competencies. ✓✓ Children should be treated safely, as close to home as possible, in an environment that is suited to their needs, with
their parents’ involvement in decisions, and with the optimal quality of care. ✓✓ Where theatre scheduling permits, children should have their surgery performed on a dedicated children’s operating list.
FUTURE RESEARCH ➤➤ There is an increasing trend to centralize children’s surgery. Otolaryngologists must ensure they are to the fore in local service planning. ➤➤ ENT surgeons need to take a strong advocacy role to make for better services for children.
➤➤ Training in the generic skills required to care for children is essential to ORL practice. ➤➤ Training in paediatric emergencies should be encouraged for all ORL practitioners who look after children.
KEY POINTS • Paediatric otorhinolaryngology is as old as the specialty of
• Developments in medicine, anaesthesia and intensive care
otolaryngology itself. • The pathophysiology and natural history of disease may be very different in children. • Looking after children is an integral part of the work of an ORL specialist.
have brought about a need for increasingly specialist care for children with ORL disorders. • The improvements in endoscopy brought about by the discoveries of Harold Hopkins transformed paediatric airway care.
REFERENCES 1. 2.
3.
4.
Clarke RW. Paediatric otolaryngology: practical clinical management. Stuttgart: Thieme; 2017. Harrison D. Eponymists in medicine: Felix Semon 1849–1921: A Victorian laryngologist. London: Royal Society of Medicine Press; 2000. Mackenzie M. Diseases of the pharynx, larynx and trachea: A manual of the diseases of the throat and nose. NewYork: William Wood & Company; 1880. Weir N, Mudry A. Otorhinolaryngology: an illustrated history. 2nd ed. Ashford, Kent: Headleys of Ashford; 2013.
5. 6. 7. 8. 9.
Porter R. The greatest benefit to mankind: a medical history of humanity. London: Fontana Press; 1999. Allen GC, Stool SE. History of paediatric airway management. Otolaryngol Clin North Am 2000; 33: 1–14. Bluestone CD. Paediatric otolaryngology: past, present, and future. Arch Otolaryngol Head Neck Surg 1995; 121: 505–8. Wilson TG. Diseases of the ear, nose, and throat in children. London: William Heinemann; 1955. Clarke RW, Osman E. British paediatric otolaryngology – coming of age. Clin Otolaryngol Allied Sci 2005; 30: 94–7.
10. Wilde WR. Practical observations on aural surgery and the nature and treatment of diseases of the ear. Philadelphia: Blanchard & Lea; 1853. 11. Clarke RW. Irish literary otolaryngologists. In: Pirsig W, Willemot J, Weir N (eds). Ear, nose and throat mirrored in medicine and arts. Ostend: Wayenborgh Publishing; 2005: pp.221–36. 12. Children’s Surgical Forum of the Royal College of Surgeons of England. Standards for children’s surgery. London: RCSENG. Available from: https://www.rcseng.ac.uk. 13. European Board Examination in Otolaryngology – Head and Neck Surgery. http://ebeorl-hns.org
FURTHER INFORMATION American Society of Pediatric Otolaryngology (ASPO): htpp://aspo.us/ British Association for Paediatric Otolaryngology (BAPO): https://www. bapo.co.uk/
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European Society of Pediatric Otorhinolaryngology (ESPO): http:// www.espo.eu.com/
Society for Ear, Nose and Throat Advances in Children (SENTAC): https://sentac.org/
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2
CHAPTER
THE PAEDIATRIC CONSULTATION Raymond W. Clarke
Introduction...................................................................................... 7 Buildings and facilities...................................................................... 7 Staffing children’s clinics.................................................................. 8 Preparing for the consultation........................................................... 9 The history....................................................................................... 9 Examination.................................................................................... 10
Investigations................................................................................. 11 Management plan........................................................................... 11 Paediatric medical assessment....................................................... 11 Consent and parental responsibility................................................ 13 References..................................................................................... 14
SEARCH STRATEGY Data for this chapter are mainly drawn from the author’s personal bibliography. The websites of the General Medical Council (GMC) (http://www.gmc-uk.org/), the Royal College of Surgeons of England (RCS) (https://www.rcseng.ac.uk/), the Department of Health (DoH) (https://www.gov.uk/government/organisations/department-of-health), General Medical Council: http://www.gmc-uk.org and the National Institute for Health and Care Excellence (NICE) (https://www.nice.org.uk/) were also consulted.
INTRODUCTION Children and their parents will often vividly remember their encounters with a doctor. The child’s first contact with medical staff and hospitals sets the scene for subsequent visits. A good paediatric consultation is more than a forum for making a diagnosis and planning management; it is an opportunity to familiarize the child and family with the hospital, the clinic, and the members of the team who will look after them during one or more admissions and outpatient visits. For the doctor, it is often the beginning of a rapport with a family who may need to see you many times over the ensuing years. Attention to a few details makes for a far better experience. It is worth putting time, effort and preparation into making the exchange as pleasant and productive as possible for the child and family.1–4 The principles that make for a satisfactory and worthwhile visit to the otorhinolaryngology (ORL) department apply to both adults and children, but some features of the children’s clinic are unique. The decision to seek advice will have been made not by the patient but by the parent(s) or carer. The older child will express her views; with babies and young children you are essentially looking after a family rather than a patient. The history, the diagnosis, the discussion of management options, and the
decision-making are ‘by proxy’ and will usually involve the parents – sometimes alone, and sometimes in consultation with the child.
BUILDINGS AND FACILITIES The clinic experience for the family starts well before they see you. Easy road access, car parking, a bright friendly environment with adequate outlets for food and drinks, baby-feeding facilities, wheelchair-friendly access and an environment where children and parents feel safe and welcome contribute greatly to parental and child satisfaction with their visit. Planning modern children’s hospitals and facilities is a highly skilled and complex endeavour. It requires close liaison between the architects and their design team, clinicians, hospital staff, children and their advocates, and planning authorities (Figure 2.1). Despite their small size, children need proportionately more space than adults. Seating has to be comfortable and suitable for all ages. Wheelchair access is essential as are spaces for breastfeeding, well-equipped bathrooms and facilities for changing of babies’ clothes. Abright spacious waiting room well stocked with toys, pens, paper, crayons and computer games and able to 7
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8 Section 1: Paediatrics
An examining room should be able to accommodate not just the patient, doctor and nurse but two parents, one or more siblings, sometimes in ‘Moses baskets’ or pushchairs, and often a grandparent. In the case of many of the children with special needs who make up a sizeable proportion of referrals to an ORL service, there may be a need to accommodate a wheelchair, oxygen cylinders and the various bits and pieces the parents carry for tracheotomy care and gastrostomy management. Ideally, an examining room should have a small play area as well where the child and siblings can occupy themselves while the mother gives the history and the doctor can quietly observe the child. The physical environment must be safe for the child, with no spirit lamps, sharp instruments or corners. Discreetly put away instruments other than those in frequent use. Small children will be frightened at the sight of an array of picks and hooks. Handwashing facilities are mandatory. An operating microscope is nowadays essential, either in the room or nearby. Endoscopy – both flexible and rigid– is now so frequently performed in an outpatient setting in children that it can be regarded as a standard requirement in a paediatric ORL clinic. A range of scopes – with facilities for safe storage – and ideally a monitor and a high-specification image capture system with a printer are nowadays mandatory. Audiological testing rooms should be adjacent to the clinic so that the child can easily move from one to the other.
STAFFING CHILDREN’S CLINICS Figure 2.1 Foyer of Royal Liverpool Children’s Hospital.
Paediatric clinics need more nursing support than general ENT clinics.6 Reception staff and care assistants with the training and expertise needed to deal with parents and children make for a far better clinic experience. Best practice is that a registered children’s nurse should be available ‘to assist, supervise, support and chaperone children’1, 2 but arrangements will vary in different jurisdictions and in different healthcare settings. Staff numbers need to be sufficient not only to support the working of the clinic, but also to ensure the safe supervision of patients and their siblings while parents are preoccupied. Audiological professionals are an integral part of paediatric ENT practice; a fully registered audiology technician with facilities for audiometry and tympanometry should be available for all children’s ENT clinics.
Figure 2.2 Waiting room with toys.
withstand the rough and tumble that is inevitable in a group of children will make for a far happier experience than a cramped facility (Figure 2.2). 5 Children become bored and fractious if they wait too long or have not got enough space. Play therapists are invaluable and, if the hospital authorities can be persuaded to hire a professional entertainer, better still.
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Other professionals may be needed depending on the nature of the clinic: a speech and language therapist (SALT) for voice disorders or cleft palate, or specialist audiological personnel for children with bone-anchored hearing aids (BAHAs) or cochlear implants (CIs). Trained specialist nurses who liaise with families in the community – for example in supporting home tracheostomy care – greatly enhance the clinical experience for parent and child. Some units arrange a ‘preadmission’ clinic so that when a child is scheduled for surgery she can
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have her pre-op checks in advance of the day of admission. A dedicated nurse usually runs these clinics, and it can be useful for the family to meet her/him at the first clinic visit so that they can plan ahead.
PREPARING FOR THE CONSULTATION Ideally, the children’s clinic must be separate from the adult clinic. If it is not possible to have a clinical area and a set of consulting rooms that are used exclusively for children throughout the working week, they should be scheduled for a dedicated paediatric session; children should no longer be seen in a ‘mixed’ adult and paediatric setting. It can be very uncomfortable for children and families if they are allocated the same clinic and have to share a waiting room with a group of adult patients. Adolescents may feel uncomfortable surrounded by hordes of small children and need to have their particular needs catered for. Some hospitals have separate clinics for adolescents planned for after school times, and teenagers usually appreciate a separate ward or section of a ward if they need inpatient care. There is much to be said for running separate clinics for some categories of patients. These may include ‘special needs’ clinics and clinics where multidisciplinary input is required, for example audiology, cleft palate and plastic surgery. Plan the optimum organization of time and space in such clinics to strike a balance between making the most efficient use of time by all concerned and the need to ensure you do not overtire or overwhelm the child by asking her to see too many adults in one room at one time. A visit to the hospital is a routine event for the doctor. It is a major episode in the life of the child and parent.
Remember that the parent/carer is likely to have had to make arrangements in advance of their visit. They may have had to book time off work, childcare for siblings, a day off school for the child, and transport for the trip. Take time to read the case-notes – often electronic nowadays – including the results of investigations if applicable, and learn the child’s name before the consultation starts. If the child has a chronic medical condition or a syndrome, read up on it in advance if you can. This is relatively easy nowadays as so much information is available online. Parent and child will appreciate continuity and, if a child needs to be seen for repeat visits, it is ideal if the same doctor sees them each time. Make sure parents or children do not feel rushed in clinic; if you have to hurry them along, the clinic has not been properly planned. If family members do not speak the same language as the doctor and clinic staff, aninterpreter will be needed, and this should be arranged well in advance of the visit.
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It is not the author’s place to advise on dress code; s uffice to say that your best tailored suit and crisp, freshly pressed shirt will neither impress the average 8-year-old nor continue to look crisp at the end of a busy morning with a succession of spirited children!
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THE HISTORY Welcome the family and greet the child by name. Make eye contact and start by introducing yourself. Introductions should include others in the room; ask permission for medical/nursing students to be present and for them to examine the child. Multidisciplinary clinics can be particularly intimidating as several specialists are present. It is good practice for all to wear a name badge and many hospitals will demand this. Establish who is with the child– it may be a parent, a carer or a grandparent. Be clear on who is going to give you the history and make sure the child gets an opportunity to speak if she is old enough. Doctors are taught to take very focused histories, but in a paediatric setting it is often better to ask an open question, such as ‘What are your worries about Kirsten?’, than to steer the parent down a particular set of symptoms. Good consultation skills can be taught, learnt and improved upon with constructive feedback and should be an important part of training and assessing surgeons as they progress towards independent practice.
Many doctors regard themselves as good communicators because they can explain illnesses and procedures in easy-to-follow terms, but of course communication is a two-way street. Listening – without interruption – can be more useful than talking. It is essential that the parent – usually the mother – feels that her account has been carefully listened to and understood before you probe with more direct questions. Watch the child, look at the mother’s facial expressions, note how she interacts with the child and pick up as much information as you can from both verbal and non-verbal clues. Listen well and talk less until it is clear that the parent feels you have the full picture.
If the parents offer to show you the child’s growth chart, a record of their visits to the doctor, diary entries, photographs or short video clips, make sure you look at them. The parents will feel any record of their child’s health is important and they may give you much information, for example about the child’s overall development or, in the case of video clips, the child’s sleep pattern. The birth and perinatal history may be important, and particularly with airway pathology it is helpful to ask the mother about the delivery, whether the baby was term or premature, whether there were any concerns about breathing and feeding as a newborn and in particular
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10 Section 1: Paediatrics
whether there was any airway intervention such as an endotracheal tube or a period in the special care baby unit (SCBU).
EXAMINATION Begin the examination as soon as the child comes into the room. Note the child’s gait, breathing pattern and state of alertness. Once they have had a chance to settle in the clinic room, young children are usually happy to be examined. Smaller children are best examined sitting on their mother’s knee. For the ENT examination explain in an age-appropriate way what is going to happen; don’t persist if the child is fractious or struggling.
It is not appropriate to restrain an older child for the purpose of an elective clinical examination, but the mother/father can gently but firmly hold a baby or toddler to facilitate otoscopy, examination of the nose and examination of the neck (Figure2.3). Most children will tolerate otoscopy; if there is wax or debris, it is usually possible to remove it by suction to get a better view. Use the biggest speculum that will comfortably fit in the ear canal. If you need a better view, use the microscope, which should be as well tolerated as a standard otoscope. Thin otoendoscopes with high-quality cameras and viewing monitors are becoming more widely available and represent a good opportunity to record findings, to facilitate better explanations of pathology to parents and to use as an aid to teaching. A good way to start a nasal examination is to assess the nasal airway using a cold metal spatula to look for the pattern of condensation (Figure2.4). Children do not like the Thudicum’s speculum; you can get a good view of the nasal cavities by elevating the tip of the nose and looking with a good light source (Figure 2.5) but highquality modern endoscopes have made rhinoscopy far easier and better tolerated. Although some surgeons like to use a local anaesthetic spray, the author has not found this useful and in general, if a child will not tolerate a
Figure 2.4 The spatula test.
Figure 2.5 Nasal examination.
Figure 2.3 Examining a child.
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nasendoscope, she will tolerate a spray even less; get the best view you can using a headlight. Examine the pharynx with a standard headlight. Children dislike tongue depressors; the author very rarely uses one. You can get a good view of the nasopharynx using a telescope with an angled lens carefully placed between the tonsils. Examining the larynx can be difficult, but flexible transnasal endoscopy will give you a very good view in a
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cooperative older child, or in the case of a baby who is gently but firmly held by the mother. As with nasendoscopy, the author has not found local anaesthesia very helpful. You may be able to see the vocal cords with an angled-lens rigid telescope but, if a child is anxious or distressed and you have to get a view of the larynx, then arrange admission for a general anaesthetic. Neck examination should focus on observation for lumps, bumps, sinuses and asymmetry, gently palpating to assess for lymph nodes. ‘Lymphadenopathy’ is probably a misnomer in children as some degree of lymph node enlargement is physiological and should cause no alarm.
INVESTIGATIONS Few if any investigations are needed for most common ENT presentations in children.
Pure-tone audiometry (provided the child is old enough) and tympanometry are essential components of a full ENT examination. Radiological imaging may be needed depending on the pathology, and ultrasonography is increasingly used to quickly assess neck swellings. Some ENT surgeons are now skilled at getting good ultrasound images in clinic. If the child needs blood tests, then she should have local anaesthetic cream (e.g. EMLA™ cream, an emulsion containing lidocaine and prilocaine) before being sent for phlebotomy. Photography can be useful – for example, for facial and neck lesions – and close liaison with a skilled medical photography department will make for a better paediatric ENT service.
MANAGEMENT PLAN The parents have come to see you to hear your opinion on their child’s condition and to discuss a management plan with you. This part of the consultation is vital and must never be rushed. Explanations should be straightforward and easy to understand, involving the child where appropriate. Models, diagrams, printed and audiovisual material can aid this process greatly. For many interventions, such as tonsillectomy, adenoidectomy and insertion of tympanostomy tubes, there will be more than one management option and it is important that each is discussed in an open and honest way. This sometimes means doctors have to admit doubts and uncertainties and these are best explained without embarrassment so that a way forward can be agreed by consensus. The treatment will be a matter for negotiation between the otolaryngologist and the mother and/or child and questions should be encouraged. Some parents see the ORL consultation as a means to confirm a treatment option they have already decided on with their family doctor (e.g. tonsillectomy for recurrent sore throats). Others are reluctant to consider any surgery, but all will greatly appreciate an informed discussion and an honest presentation of the evidence for current practice focused on the specific needs of their child. In general,
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parents appreciate a discussion with the senior clinician, but this needs to be balanced with the need for residents and juniors to see patients and improve their diagnostic and consultation skills.
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PAEDIATRIC MEDICAL ASSESSMENT ENT surgeons are not typically trained medical paediatricians; if you are seeing a significant number of children, you will come across conditions that are best diagnosed and dealt with by paediatrician colleagues. Some knowledge of these conditions can help early detection and referral so that parents and children are offered skilled support as soon as is practicable. Attention deficit hyperactivity disorders (ADHD), autistic spectrum disorders (ASD), and a variety of ‘functional’ disorders may well present first to the otolaryngologist.
ADHD Every clinician will be familiar with the child who fidgets, won’t sit still, and seems to have a poor attention span. Parents will often volunteer that the child is ‘hyperactive’ or disruptive. In extreme cases this may constitute a behavioural syndrome termed attention deficit hyperactivity disorder (ADHD). This condition is now thought to affect 3–4% of children worldwide. They occasionally present with suspected hearing loss or poor sleep patterns. The defining features of ADHD are hyperactivity, impulsivity and inattention, but these characteristics are distributed in varying degrees throughout the population.
ADHD diagnostic criteria vary somewhat, but the core feature of the diagnosis is that symptoms are associated with ‘at least a moderate degree of psychological, social and/or educational or occupational impairment’. ADHD is not a categorical diagnosis; it should only be made with great care following a thorough assessment by a skilled and experienced paediatric team.7 A diagnosis of ADHD has serious potential implications; it is generally a persisting disorder. Most affected children will go on to have significant difficulties in adulthood, including continuing ADHD, personality disorders, emotional and social difficulties, substance misuse, unemployment and involvement in crime. Management can be very taxing, involving social and educational services, the family doctor and his/her team, specialist paediatricians and, of course, the child’s family.
Autistic spectrum disorders Autism was once thought to be an uncommon developmental disorder but is now estimated to occur in at least 1% of children. Healthcare personnel need to be aware of some of the features so as to facilitate early diagnosis and intervention. The characteristic features are impairment in reciprocal social interaction and social communication,
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12 Section 1: Paediatrics TABLE 2.1 Some features of autistic spectrum disorders (ASD) in preschool children Aspect
Examples
Language
Delayed speech development Frequent repetition of set words and phrases
Responding
Not responding to their name being called Rejecting cuddles
Interacting
Unaware of other people’s personal space Intolerant of people entering their personal space Avoiding eye contact
Behaviour
Repetitive movements Playing with toys in a repetitive way Getting upset if there are changes to normal routine
combined with restricted interests and rigid and repetitive behaviours. In recognition of the great heterogeneity of autism, the term ‘autistic spectrum disorder’ (ASD) is now more commonly used. The list of possible symptoms is very large but some key features are shown in Table 2.1. Otolaryngologists may suspect that a child referred for a hearing or speech assessment has an ASD. The diagnosis needs to be made with great care and warrants a full assessment by an experienced team.8 If ASD is confirmed, families and the child or young person themselves can experience a variety of emotions, including shock and worry about the implications for the future. Some have a profound sense of relief that others agree with their concerns. Skilled diagnosis is important: it can offer an understanding of why a child or young person is different from their peers, open doors to support and services in education, health and social care, and provide a route into voluntary organizations and contact with other children and families with similar experiences. All of these can improve the lives of the child or young person and their family. Children with ASD may present to the ENT clinic with language delay or suspected hearing loss.
Given the frequency of the condition, many children who present to the ENT clinic will have a background history of ASD and it is important to be aware of the diagnosis because of its very common association with comorbidity. ASD is strongly associated with a number of coexisting conditions. Approximately 70% of people with autism also meet diagnostic criteria for at least one other (often unrecognized) psychiatric disorder that further impairs their psychosocial functioning. Intellectual disability (intelligence quotient [IQ]below70) occurs in approximately 50% of young people with autism. Deafness and other sensory impairments are more common and may be difficult to recognize. Children with ASD need particularly sensitive care and attention if they are admitted for surgery.
Some children with ASD find the company of other children distressing and they are especially likely to become upset if they have to wait too long. In general they should
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be assessed early by the anaesthesiologist, considered for a sedative – ‘pre-med’ – scheduled early on the operating list, and discharged as soon as they are fit. Day surgery is preferable unless there are very good medical reasons to keep the child in overnight.
Functional disorders Just as in adult medicine, children present to the ENT clinic with symptoms for which no organic pathophysiological explanation can be found despite a thorough examination and in some cases extensive investigation. The term ‘functional disorders’ is often used to emphasize that, although no structural or anatomical abnormality can be demonstrated for example on imaging, endoscopy or microscopy, there may be physiological dysfunction. ENT symptoms in children may include: • • • • • • • •
earache tinnitus hearing loss dysphagia neck pain balance disorders dysphonia stridor (very occasionally).
Terms such as ‘medically unexplained’, ‘psychogenic’, ‘stress-related’, ‘psychosomatic’ and ‘hysterical’ were used in the past but have been abandoned as they were unhelpful, became derogatory and implied a certain amount of ‘blame’ on the part of the patient. Functional disorders are not the same as factitious or feigned illness; it is hugely counterproductive to make the child or parent feel that they are not believed.
The symptoms are very real to the patient and can cause great distress, which can be exacerbated if they are treated in an insensitive or judgmental way. Take a full history, examine the child thoroughly, arrange investigations as needed – including audiometry, imaging and endoscopy – and formulate a diagnosis. If you suspect a functional basis for the symptoms, enquire into issues such as school, relationships with siblings, friends and family and whether there has been any change in home circumstances. Parental disharmony, bullying at school and the trauma of the physiological and psychological changes of puberty and adolescence can all have an impact on health and wellbeing, with somatic symptoms coming to the fore. An experienced clinician will need to strike a balance between a thorough investigation to rule out an organic aetiology and a more minimal approach focusing on history, examination and reassurance. A sensitive and thoughtful explanation of the findings to parent and child will allay fears and make for a good rapport for follow-up visits. There is often a background history of environmental or psychological stress, but dealing with a certain amount of anxiety, uncertainty and insecurity is all part of
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growingup. Children can – consciously or unconsciously– describe symptoms that bring about some ‘secondary gain’ for them, such as time off school, increased parental attention in the event of a new sibling, and the benefits associated with being perceived as ‘sick’. Functional disorders are distinct from true malingering or feigned symptoms, although these do very occasionally present as well. It is difficult to know on the basis of a single consultation whether there is any significant psychological morbidity; too-early referral to a psychological support service can be counterproductive. Many functional disorders are short-lived and should not be ‘over-medicalized.’
It is the author’s practice in most circumstances to reassure the family that the majority of these symptoms are transient and rarely need intensive intervention. Bear in mind that depression, pathological anxiety and rarely overt psychosis do occur in children, and skilled psychiatric help will be needed in some circumstances. Referral protocols vary but most children’s hospitals will have a child and adolescent mental health service (CAMHS) team, who will see and assess children at short notice. Many hospitals will have specific policies covering this type of scenario; clinicians should ensure they have the appropriate training for the setting in which they work. Management must be tailored to the individual child and family and prognosis varies greatly.
CONSENT AND PARENTAL RESPONSIBILITY It goes without saying that every medical intervention requires the informed consent of the patient. What is different in the case of young children is that they may not have the capacity and understanding (‘competence’) to weigh the benefits and risks of an intervention, and consent will usually need to be given on their behalf. It is wise to involve the child whenever possible. The interests of the child must, of course, take precedence over the wishes of others, even parents, and the law in almost all jurisdictions recognizes this, but clinicians will want to respect the legitimate concerns of parents, carers or legal guardians. The legalities that govern these processes vary in different jurisdictions and healthcare settings but the principles are broadly similar. Once children reach the age of 16 years they are deemed legally ‘competent’ in the UK.
Reaching the age of legal competence means children are responsible for decisions relating to consent themselves, but it is of course wise to involve parents if at all possible in major decisions in the young. If a young person up to the age of 18 years is not ‘competent’ – for example,
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due to learning disability, reduced consciousness, or severe illness – then a parent or person with ‘parental responsibility’ (see below) can give consent for them, but over the age of 18 years in UK law a parent cannot give consent on behalf of a young person. This causes difficulties in the case of young adults with learning disabilities, many of whom remain under the care of children’s hospitals. In these cases the clinician must make the decision on the young person’s behalf, ideally with the written agreement of another senior clinician and with the full approval of the parent. A child under the age of 16 years may well be able to understand the implications of a treatment strategy. In UK law such a child who has ‘sufficient understanding and intelligence’ to enable him or her to understand fully what is proposed is deemed ‘Gillick competent’ or as it is sometimes known ‘Fraser competent’.9 The decision as to whether a child fulfils the criteria for ‘Gillick competence’ rests with the clinician, hence teenagers undergoing, for example, tonsillectomy may give their own consent. The issues around consent in children can cause great sensitivity and are fraught with medicolegal pitfalls. If in any doubt, seek the advice of one or more senior clinicians.
2
In the case of a child who is not ‘competent’, consent has to be sought from and given by a person with ‘parental responsibility.’
‘Parental responsibility’ is usually held by one or both of the parents. The situation varies in different jurisdictions but in England and Wales ‘parental responsibility’ is automatically given to the mother, and to most fathers. A father will have parental responsibility if he is married to the child’s mother or listed on the child’s birth certificate (after a certain date, which varies in jurisdictions). Fathers who do not have parental responsibility can get it via an agreement with the mother or they can apply for it through the courts. Grandparents, foster parents and others who look after children do not have parental responsibility unless special legal arrangements have been made. Consent from one parent is legally valid but it is best to obtain consent where applicable from both. A written record of consent, signed by the doctor and the parent, is an important document and, although not legally mandatory, in general an invasive intervention should not proceed without it. Verbal consent for surgery is possible – and in many circumstances entirely reasonable. If, for example, a newborn baby needs urgent surgery, very often the mother will be recovering in the maternity unit. The surgeon should speak to her by telephone, explain the natural history of the condition, the implications of treatment, the consequences of not treating, and the timing of treatment. It is good practice to get another healthcare professional (e.g. a nurse) to confirm with the mother that she understands and agrees with what is being proposed and to record the exchanges in the case notes. It may be necessary in emergency scenarios to proceed without consent – for example when a child needs urgent
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intervention following an accident and the person with parental responsibility is not immediately available.10–13 A recent UK legal judgement – the ‘Montgomery’ case – has moved the focus of consent more towards the specific needs of the individual patient. This follows the guidance of the General Medical Council11,12 but makes even more explicit the need for doctors to take reasonable steps to ensure that patients are aware of any risks that are material to them. This puts a greater onus on us as surgeons not only to communicate the benefits and risks of interventions but to judge the individual needs and perceptions
of our patients/parents and to customize our discussion of management options to those varying patient/parent views.14,15 Consent in children causes great sensitivity. Make sure you are familiar with the Department of Health guidelines,10 the findings of the ‘Montgomery’ case,14 the advice of the General Medical Council11–13 and the guidance of the surgical Royal colleges.15 Trainee surgeons in particular are advised to seek the advice of senior colleagues in the event of any uncertainties.
FUTURE RESEARCH ➤➤ Department of Health (DoH): https://www.gov.uk/government/ organisations/department-of-health ➤➤ General Medical Council (GMC): http://www.gmc-uk. org/
➤➤ National Institute for Health and Care Excellence NICE): https://www.nice.org.uk/ ➤➤ Royal College of Surgeons of England (RCS): https://www. rcseng.ac.uk/
KEY POINTS • A visit to the hospital is a routine event for the doctor. It is a major episode in the life of the child and parent. • Children should be seen in appropriately staffed, dedicated children-only ‘child-friendly’ clinics. • Audiological professionals and audiological testing facilities are an integral part of children’s ENT clinics.
• Autistic spectrum disorders (ASD) are increasingly common and may present to the otolaryngologist.
• Make sure you are familiar with the procedures governing consent in children in your healthcare setting.
REFERENCES 1.
2.
3.
4.
5.
Kennedy I. Learning from Bristol: the report of the public inquiry into children’s heart surgery at the Bristol Royal Infirmary 1984–1995. Command Paper: CM 5207; 2001. Available from: http://webarchive. nationalarchives.gov.uk/20090811143746/ http://www.bristol-inquiry.org.uk/. Laming H. The Victoria Climbié inquiry; Report of an inquiry by Lord Laming. Command Paper CM5730; 2003. Available from: http://www.victoria-climbie-inquiry. org.uk/. Department of Health. National Service Framework for children, young people and maternity services. Available from: https:// www.gov.uk/government/publications/ national-service-framework-childrenyoung-people-and-maternity-services. Department for Education and Skills. Every child matters. London: The Stationery Office; 2003. Available from: https://www.gov.uk/government/ publications/every-child-matters. Children’s Surgical Forum. Standards for children’s surgery. London; Royal College of Surgeons ofEngland;2013.
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Availablefrom: https://www. rcseng.ac.uk/library-and-publications/college-publications/docs/ standards-for-childrens-surgery/. 6. Royal College of Nursing. Defining staffing levels for children and young people’s services. London; Royal College of Nursing; 2013. Available from: www.rcn. org.uk/-/media/royal-college-of-nursing/ documents/publications/2013/august/pub002172.pdf. 7. National Institute for Health and Care Excellence. Attention deficit hyperactivity disorder: diagnosis and management. NICE Clinical guideline [CG72]. London: NICE; 2016. 8. National Institute for Health and Care Excellence. Autism spectrum disorder in under 19s: recognition, referral and diagnosis. NICE Clinical guideline [CG128]. London: NICE; 2011. 9. Gillick v. Norfolk and Wisbech AHA [1985] 3WLR830, 3All ER402. 10. Department of Health website on consent. Available from: www.dh.gov.uk. Required reading for all UK practitioners.
11. General Medical Council. 0–18years: guidance for all doctors. 2007. Available from: http://www.gmc-uk.org/guidance/ ethical_guidance/children_guidance_index. asp. 12. General Medical Council. Consent: patients and doctors making decisions together. 2008. Available from: http://www. gmc-uk.org/guidance/ethical_guidance/ consent_guidance_index.asp. 13. General Medical Council and Nursing and Midwifery Council. Openness and honesty when things go wrong. 2015. Available from: http://www.gmc-uk.org/guidance/ ethical_guidance/27233.asp 14. The Supreme Court. Montgomery v. Lanarkshire Health Board (Scotland). Available from: https://www.supremecourt. uk/cases/uksc-2013-0136.html. 15. Royal College of Surgeons of England. Consent: supported decision-making. Aguide to good practice. 2016. Available from: https://www.rcseng. ac.uk/standards-and-research/standardsand-guidance/good-practice-guides/ consent/.
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3
CHAPTER
RECOGNITION AND MANAGEMENT OF THE SICK CHILD Julian Gaskin, Raymond W. Clarke and Claire Westrope
Introduction.................................................................................... 15 The ‘normal’ child........................................................................... 15 Recognizing the sick child.............................................................. 15 Early management.......................................................................... 18 Safe transfer................................................................................... 18
Paediatric intensive care................................................................. 19 Monitoring and recording................................................................20 Recognizing ‘sepsis’.......................................................................20 Child protection..............................................................................20 References.....................................................................................22
SEARCH STRATEGY Data in this chapter are taken from the Advanced Paediatric Life Support (APLS) manual and the websites and publications of the General Medical Council, the National Institute for Health and Care Excellence (NICE), and the Paediatric Intensive Care Society (PICS), supplemented by the authors’ personal bibliographies and their experiences as clinicians and teachers.
INTRODUCTION
THE ‘NORMAL’ CHILD
Children under the care of otolaryngologists are mostly looked after in an outpatient or planned inpatient setting, and are in good general health. Very ill children – sometimes with complex and multisystem diseases – are typically cared for by paediatricians and their teams, but the otolaryngologist will often participate in shared care. Every doctor who looks after children will, from time to time, be presented with an emergency situation; children who are apparently well can deteriorate very quickly. Doctors who deal with children also need to be aware that children are vulnerable to harm and abuse and that we have a duty of care to recognize and act if we have any concerns about such abuse or maltreatment. This chapter outlines some of the general principles that underpin the care of the very sick child, and highlights some of the features of child abuse that may present in an ORL clinic. A short book chapter is, of course, no substitute for structured learning and experience. ORL training programmes now recognize this and both otolaryngologists-in-training and established practitioners will need to complete formal ‘hands-on’ training courses in the principles of resuscitation and in ‘child protection’.
The aphorism that ‘children are not small adults’ conveys important lessons, not least that the physiology of the child and their responses to illness may be very different from those in adults. Children have lower physiological reserves; they can deteriorate with alarming rapidity. Doctors who work largely with adults may not always appreciate, for example, the widely varying baseline observations in children, and their changes with age (Table 3.1). Fluid requirements are, of course, also very different in children (Table3.2). An awareness of the normal parameters is essential, as deviations away from these allow the clinician to recognize them at the earliest opportunity. Ongoing assessment and monitoring can facilitate early detection of change and prompt life-saving intervention.
RECOGNIZING THE SICK CHILD The way we approach recognizing and managing seriously ill patients nowadays has largely been shaped by the principles developed in Basic and Advanced Life Support courses (BLS and ALS).1, 2 Courses and teaching modules
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16 Section 1: Paediatrics TABLE 3.1 Normal range at different ages for children’s weight, respiratory rate, pulse rate and systolic blood pressure (adapted from APLS manual1) Age
Weight (kg)
Respiratory rate (RR) (breaths/minute)
Pulse/minute
Systolic blood pressure (mmHg)
Birth
3.5
25–50
120–170
65–105
1 year
9.0
20–40
110–160
70–95
4 years
16.0
20–30
80–135
70–110
10 years
32.0
15–25
70–120
80–120
TABLE 3.2 Fluid requirements in normal healthy children (adapted from APLSmanual1) Body weight First 10 kg
Fluid per day (mL/kg) 100
Second 10 kg
50
Each subsequent kg
20
focused on the needs of healthcare personnel looking after sick children developed from the early 1990s as the Advanced Paediatric Life Support (APLS) system, which teaches a structured and reproducible set of skills applicable across specialty, language, cultural and geographical boundaries.1 APLS teaching materials are produced and regularly updated by a multidisciplinary team of paediatric emergency physicians, anaesthetists, surgeons and paediatricians. Much emphasis is given to the care within the first hour, the so-called ‘golden hour’, which governs the trajectory of subsequent management. With important, easy-to-remember initial steps, the right order of resuscitation can begin to help avert a sick child deteriorating, or even worse, dying. Prioritizing bodily systems has helped clinicians and those first on the scene to deal with complex situations in the best possible way. A structured approach concentrates on different systems of the body in an order that generally allows the most important problems to be assessed and dealt with first before moving on. These systems include the respiratory, circulatory and central neurological systems. They can be remembered as: A – Airway B – Breathing C – Circulation D – Disability (central neurological system) E – Exposure (temperature, rash, bruising).
The respiratory system – airway and breathing In the initial assessment of a sick child, the airway and breathing must be considered first. A blocked or reduced airway has to be addressed as a matter of extreme urgency as this impacts quickly on all of the organ systems. Signs to be observed include apnoea, stertor and stridor. As the child’s ribcage is soft and pliable, sternal and intercostal recession and ‘tracheal tug’ (indrawingof
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the suprasternal tissues) can often be seen if a child is working hard to breathe. The respiratory rate must be measured. This will vary according to the child’s age (see Table 3.1). If a child is tachypnoeic, this may be due to airway or lung pathology, or a metabolic acidosis (trying to ‘blow off’ carbon dioxide). A slowing respiratory rate is not always a comfort; it may be due to fatigue or cerebral depression and can be a preterminal sign. Respiratory noises can help to define the level of airway narrowing, but this is not specific enough to make a definite diagnosis. If the noise is a low-pitched, snoring-type sound (‘stertor’), then obstruction is usually at the level of the nasopharynx or oropharynx. ‘Stridor’ – generally a higher-pitched noise, (although the two terms are used imprecisely) – is often inspiratory but can also be biphasic (inspiratory and expiratory), and is classically brought about by obstruction in the larynx. This can be the supraglottis, glottis or subglottis but stridor can also be due to narrowing of the trachea or even the main bronchi. Biphasic stridor is particularly ominous and suggests severe airway compromise. Obstruction in the lower airway or in the distal bronchial tree will usually produce wheeze, which is more pronounced on expiration. All these respiratory noises are normally more pronounced in the presence of good airflow. In a preterminal state when the airflow is reduced, there may not be an obvious respiratory noise, despite significant obstruction within the airway. Beware the stridulous child who becomes quiet. Gasping is almost invariably a late sign of a severely hypoxic, exhausted child. A child with severe airway obstruction will often adopt a position – usually when lying down – with the neck extended. This is called an ‘opisthotonic’ position and is aimed at trying to open the upper airway maximally due to obstruction. Other signs to look for in the assessment of airway compromise include flaring of the nostrils as an infant tries to increase the intake of air during inspiration. Inspection, palpation and auscultation of the chest can reveal important signs too. Chest expansion can be a very sensitive sign when making an assessment of the amount of air passed during inspiration and expiration. The same goes for auscultation, where reduced air entry can be evaluated. If air entry is unequal across the lungs, this may point to pathology affecting one lung, such as a pneumothorax or a bronchial foreign body. A ‘silent chest’ is another late sign in a child that may be about to have acardiopulmonary arrest.
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Simple measurement of the pulse can inform the c linician of the presence of tachycardia associated with hypoxia. However, this is also likely if the child is anxious or pyrexial. Bradycardia is an ominous preterminal sign. Monitoring equipment such as a pulse oximeter may be of additional support as it can help give a measure of the arterial oxygen saturation. Pulse oximetry should be used as an adjunct; guard against false reassurance if other clinical signs do not support a good read-out from the pulse oximeter. It is important to realize that there is often a time delay of a few seconds before the oxygen saturation registers; the true oxygen saturation in the patient’s arterial blood may be lower than the reading suggests. Conversely, a low reading may relate not only to a patient’s low oxygen levels but can occur in hypothermia, severe shock or if there is poor contact with or interference from the sensor. In severe hypoxia, expect to see skin pallor due to vasoconstriction. Cyanosis is a late and highly ominous sign. In a child without an underlying cardiac condition it is extremely serious, suggestive of severe respiratory compromise; if due to hypoxia it suggests that the child is close to a respiratory arrest.
The circulatory system (C) After airway and breathing, circulation needs to be assessed next. One of the first signs is the pulse rate, measured either by palpation (better centrally via a larger artery such as one of the carotid or femoral arteries) or with pulse oximetry (again, bearing in mind its limitations). Normal ranges of pulse rate can be seen in Table 3.1, varying with age. Tachycardia will often be seen in shock, where a decreased stroke volume (amount of blood pumped from the left ventricle in a beat) leads to release of catecholamines such as adrenaline. Bradycardia is a late sign of impending cardiac arrest. Weak pulses, particularly centrally, can be a sign of very poor perfusion as blood pressure is usually maintained until severe shock develops. Blood pressure readings are not as useful because systolic blood pressure is usually well maintained in a shocked child. Once hypotension has supervened, a cardiac arrest is highly likely. Capillary refill is a much earlier sign of circulatory compromise. This should be assessed centrally, ideally on the sternum, where digital pressure is applied to the skin for 5seconds and then released. The resultant blanched skin colour change should usually return to normal within 2seconds. If this is prolonged, it is a sign of poor skin perfusion but is also suggestive of potential underlying poor perfusion to other organs. Although fever does not affect this sign (which is therefore very useful in assessing a child with septic shock), a cold environment does, so the ambient temperature needs to be taken into account. Other signs of poor circulation relate to the effects on other organs. The skin can show obvious changes such as cold peripheries but also mottling. Poor perfusion will
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affect the conscious state and cause reduced urinary output and increased respiratory rate.
3
The central neurological system – disability (D) A formal assessment using the Glasgow Coma Scale (GCS) used in adult patients is often very difficult to transfer over to a child. A quick way of assessing the conscious level in a child is using the acronym AVPU to signal progressively decreasing conscious level: • • • •
Alert responds to Voice responds to Pain Unresponsive.
If the child in unresponsive to verbal stimulus but does respond to painful stimulus, this would equate to a GCS of 8 or less. Ways to measure response to painful stimuli can be to exert pressure over key points of the body, such as the sternum or supraorbital ridge. Subsequent sounds, localization to the painful stimulus or seeing if the eyes open can then be recorded. Observing the posture of the child can be helpful. Often, hypotonia (‘floppy’ child) is present if the child has had a significant neurological insult. Sometimes there are specific positions a child will adopt depending on the location of intracranial pathology. Flexed arms and legs is known as a decorticate posture and extended arms and legs is known as a decerebrate posture, which is usually in keeping with a more severe injury. With meningitis, there may be neck stiffness. The reaction of the pupils to a light stimulus can reveal important information related to the function of the central neurological system. Dilated pupils, or pupils that are unequal or unresponsive to light, may point toward serious neuropathology. There may also be signs of abnormal central neurological function in the respiratory and circulatory systems, with altered breathing patterns, hyperventilation or apnoea. Brain herniation can cause a vasopressure response with hypertension and bradycardia.
Exposure (E) A full assessment of the sick child involves stripping the patient down to look at the skin for bruising related to injury or rashes related to infection or allergy, which may dictate the need for investigations such as blood cultures, CT imaging and lumbar puncture (provided there is no evidence of raised intracranial pressure). It is also important to check the temperature and reassess all the signs again such as respiratory rate, pulse rate and so on. With this simple but highly effective order of assessment, using airway, breathing, circulation, disability and exposure (ABCDE), the correct priorities are set to ensure that important features in the recognition of the sick child are not missed.
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EARLY MANAGEMENT Following the structured approach of assessing a seriously ill child, resuscitation and treatment is required. This follows the same systematic format.
Airway Suctioning of secretions, removal of intra-oral foreign bodies or debris, a chin lift and jaw thrust are the immediate measures to free the airway. This is likely to overcome any oropharygeal obstruction. If the airway obstruction is not resolved by such simple manoeuvres, an adjunctive airway may be required. This may be in the form of a nasopharyngeal airway (NPA), an oropharyngeal or ‘Guedel’ airway or a laryngeal mask airway (LMA). If the airway cannot be maintained by one of these measures, endotracheal (ET) intubation will be needed. This could be via the nose (nasotracheal) or mouth (orotracheal). Externally, a tracheostomy can be formed, or in a dire emergency situation a cricothyroid puncture. Nebulized adrenaline and intravenous steroids such as dexamethasone may all help to improve upper airway obstruction (see Chapter 28, Stridor). If an airway foreign body is likely and the child is inextremis, then immediate transfer to an operating theatre for removal of the object using a ventilating bronchoscope can be life-saving. An oropharyngeal foreign body may need to be immediately engaged and removed with Magill forceps.
Breathing Once the airway is secured, breathing needs to be efficacious. This requires there to be no intra-cerebral compromise of the respiratory centre and no abnormality of the lungs or musculature surrounding the lungs. Emergency treatment to aid breathing would be by applying highflow oxygen via a facemask with a reservoir bag, or direct attachment to an endotracheal tube if the child has been intubated. Bag-valve ventilation (‘bagging’) can also be performed and works by introducing positive pressure. Investigations may include a chest radiograph, arterial blood gases or blood cultures, but stabilizing the airway and ensuring the child is breathing safely is by far the highest priority.
Circulation Supporting and reversing inadequate circulation requires intravenous cannulation and administration of intravenous fluids in the first instance. However, if intravenous cannulation is not readily achievable, particularly in hypovolaemic shock where peripheral venous access may be difficult due to vasoconstriction, intra-osseous access will be required. Intra-osseous fluids can be infused effectively to reverse a circulatory deficit in children. Replacement of blood in the presence of significant blood loss may also be needed. Primary investigations are blood tests in the form
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of a full blood count, urea and electrolytes, clotting screen and a group and save/cross match. An electrocardiogram is also needed. If septic shock is suspected, blood cultures and intravenous antibiotics are required.
Disability Rapid assessment using the AVPU stimulus test above will help ascertain if intubation is necessary to protect the airway. A child with responses only to painful stimulus or a child who is unresponsive (P,U) meets this criterion. Any patient with a neurological deficit must have their glucose level checked (don’t ever forget glucose – DEFG). Ifblood glucose levels are found to be abnormal, they can be reversed with intravenous treatments. Seizures or convulsions can be treated with benzodiazepines. Signs of raised intracranial pressure are likely to require CT scanning and specialist input from neurology or neurosurgical teams. Adequate analgesia – including the use of opioids where safe and appropriate – is an important part of the early management of the sick child.
Exposure Septicaemia may cause a purpuric rash. Meningitis may cause a non-blanching purpuric rash, along with other signs of meningism. Intravenous antibiotics are then needed immediately. Anaphylaxis may cause an urticarial rash and angio-oedema, particularly around the lips and oropharynx. In such cases, adrenaline given via nebulizer and intra-muscularly is often immediately helpful, with intravenous steroids and intra-muscular antihistamines later on in the resuscitation period.
SAFE TRANSFER Once the seriously ill or injured child has been appropriately resuscitated and stabilized, the next step in their care may involve some form of transfer to another hospital unit. Inter-hospital transfer will be needed if the level of care or expertise cannot be delivered at the first location where the child is seen. Reasons for this may include the need for specialist teams such as neurosurgery for intra-cerebral complications, paediatric ENT surgery for complex airway issues such as foreign body inhalation or laryngeal stenosis or even because of a lack of available facilities and staff within that hospital’s intensive care unit. Wherever the destination or whatever the indication, the principles remain the same. Resuscitation as described earlier needs to have taken place prior to transfer. It is essential to have good teamworking and communication throughout the whole process. From an ENT viewpoint this may require securing the airway jointly with the anaesthetist and could even mean a tracheostomy or cricothyroidotomy in an extreme airway emergency, although nowadays this is very rarely needed. Urgent treatment should not be delayed waiting for transfer or for a retrieval team to arrive. If endotracheal intubation is required and achieved, one of the
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greatest concerns would be accidental displacement or dislodgement and it is essential that endotracheal tubes and tracheostomy tubes are carefully secured. The principles of safe transfer have been refined by guidance from the Paediatric and Neonatal Safe Transfer and Retrieval (PaNSTaR) group3 who, following the lead of APLS, have created the acronym ACCEPT to help focus thinking around safe transfer: • Assessment: Before making a transfer a formal assess-
• •
• •
•
ment needs to be undertaken by the transfer team. Continuous monitoring and reassessment will also be required. Control: The one in overall charge of the transfer needs to take control of identifying and allocating key tasks. Communication: Good communication between the current, transfer and receiving teams needs to take place, along with the child’s family. Evaluation: Ensure that the transfer is appropriate. Preparation and packaging: Ensure appropriate preparation of the child, equipment and personnel has taken place, mindful of the limitations when providing medical care in a mobile setting. Transportation: The mode (road or air) and effects of that mode of transport to medical care need to be fully considered.
‘Retrieval’ teams are an increasingly important part of networked care for children. Teams may include paediatricians, anaesthetists, intensive care physicians, nurses and paramedics and a paediatric otolaryngologist. These teams have particular training needs including ongoing attention to maintaining their skills, and the otolaryngologist will often have a key role in the team.
PAEDIATRIC INTENSIVE CARE Paediatric critical care describes the care of children who need an enhanced level of observation, monitoring or intervention which cannot safely be delivered in general wards.4 Paediatric intensive care unit (PICU) staff look after children and young people whose conditions are life-threatening and who need constant close monitoring and support from equipment and medication to restore/ maintain normal body functions. This includes care of children requiring intubation and ventilation, single- or multiple-organ support and continuous or intensive medical and nursing supervision. This also includes routine planned post-operative care for surgical procedures and during some planned medical admissions. Three levels of such care are now widely accepted: • Level 1 Basic critical care: A child, for example, with
mild upper airway obstruction needing nebulized adrenaline would be managed here. • Level 2 Intermediate critical care: This includes care of a child with an NPA, and early care of children with a newly fashioned tracheostomy. A level 2 unit (often referred to as a high dependency unit or HDU) would
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usually manage a child needing non-invasive ventilation such as CPAP. • Level 3 Advanced critical care: This is often referred to as a paediatric intensive care unit (PICU). Such a unit would have a high ratio of nurses to children and be able to provide mechanical ventilation, in addition to other forms of organ support.
3
Cross-specialty working between ENT surgeons and PICU is essential in the care of critically ill children. Examples include post-operative management of a child after upper airway surgery, acute management of the difficult airway, acute upper airway obstruction, diagnosis and management of upper or lower airway malacia and multispecialty working for establishing and maintaining long-term ventilation (LTV) in patients with severe respiratory disease. Strategies used in PICU are aimed at restoring and maintaining normal body functions. In essence, this is done by providing adequate oxygen and energy s upplies to all organs and tissues to maintain their function. Oxygen is delivered to the body via respiration and delivered to the tissues by being carried in the blood (mostly via haemoglobin) and so normal tissue function is dependent on a dequate oxygen supply to the lungs (ventilation) and adequate blood supply to the tissues (cardiac o utput and c irculation). The principles of ventilation are largely generic, regardless of the large variety of underlying pathologies leading to the child needing ventilation. Ventilation ensures adequate pulmonary oxygen supply and carbon dioxide removal, but it may cause injury to the lungs by barotrauma/volutrauma and alveolar collapse, or by direct oxygen toxicity. Regardless of whether the lungs are normal or diseased, protective’ ventilator strategy should be used. a ‘lung- Pressure, volume and oxygen settings can be minimized and mild or ‘permissive’ hypercapnia and hypoxia is now accepted. In PICU PIP (peak inspiratory pressures) ≥30 cm H 20, expiratory tidal volumes ≥10 mL/kg and inspired oxygen concentration (FiO2) ≥60% are all associated with ventilator-induced lung injury. PICANet (Paediatric Intensive Care Audit Network) reports indicate that around 40% of admissions in the UK are planned (34% post-surgery) and 60% are for unplanned emergency care. The top three indications for admission to PICU are cardiovascular (28.6%), respiratory (26%) and neurological (11%). Around 65% of admissions require invasive ventilation and 15% non-invasive ventilation. PICU mortality rates remain low (2 mmol/L) 6. Fluid balance monitoring
CHILD PROTECTION Every professional involved in the care of children needs to be aware of the potential for children to be subject to abuse or neglect.
This can take the form of physical, emotional, or sexual abuse and may be perpetrated by family members, by friends and acquaintances or by professionals who come in contact with the child. Professional regulatory bodies– e.g. the General Medical Council (GMC) in the UK – expect doctors working with children and young people to be especially conversant with the features of abuse and neglect and to act upon any concerns they have.10 Arrangements for raising such concerns vary in different healthcare settings and in different jurisdictions but the principles are essentially the same. You should be familiar with the main presentations in your area of practice that can be caused by abuse and with the strategy for seeking appropriate advice and support.
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3: RECOGNITION AND MANAGEMENT OF THE SICK CHILD 21
3
(a)
(b)
Figure 3.1(a)Tear of the labial frenulum with ulceration of the labial mucosa, (b)healing tear of the lingual frenulum.
Most children’s hospitals will have a ‘child protection’ team who can be contacted for advice in confidence. Anecdotal evidence would suggest that few ENT surgeons make a diagnosis of child abuse, but it is essential that they are aware of it as a possible explanation for some unusual presentations. Up to 75% of children who suffer physical abuse have injuries to the head and neck (Figures 3.1a, b and 3.2). Some ENT presentations that may be linked with child abuse are shown in Box 3.2. If you suspect that a child’s symptoms may be due to abuse or neglect, seek advice from an experienced colleague. Most children’s hospitals have a designated team headed up by a paediatrician ‘child protection lead’ who has the expertise and sensitivity to give advice and support to you as a concerned clinician, and where necessary to explore the issue with the parents. This is clearly an area where great sensitivity and delicacy are needed. An accusation of abuse or neglect can have devastating consequences for the child and family. BOX3.2 Some possible non-accidentalinjuriesinthe head and neck Tears to the lingual frenulum Bruises to the cheeks, lips, gums Nasal injuries Injuries to the pinna, especially ‘pinch’ marks (Figure 3.2) Auricular haematomas Traumatic perforation of the eardrum Maxillofacial fractures Dental trauma Injuries to the palate, e.g.due to forceful feeding Bruising to the neck
A very small number of parents deliberately bring about symptoms and signs of disease in their child in an attempt to gain attention from healthcare personnel. ENT examples include ear injuries, blocked tracheostomy tubes and deliberate smothering. This is a serious psychiatric condition (Munchausen Syndrome by Proxy) and needs urgent and expert management.
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Figure 3.2 Bruising of the ear. ‘Pinch’ marks as seen on the upper aspect of the pinna are said to be pathognomonic of non-accidental injury.
A small number of children may, for various reasons, be best looked after outside their family setting, for instance by social services or the local authority. They may beplaced in a designated care setting or with an alternative family (foster family). Arrangements will vary in different healthcare settings, but in general these children (‘looked-after children’, or ‘children in care’) need particularly vigilant medical attention. They will usually have a named social worker and close liaison with her/him is important in ensuring continuity of medical management, especially if they require surgery, investigations or repeat follow-up visits.
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22 Section 1: Paediatrics
BEST CLINICAL PRACTICE • Retrieval teams are increasingly important in paediatric
• Beware impending ‘sepsis’ in a child. It warrants immediate
care, and otolaryngologists may be key members of the team.
• Be aware of the potential for children to be subject to abuse
intervention. or neglect.
FUTURE RESEARCH ➤➤ Paediatric critical care is a recognized and expanding medical specialty, with the potential for ever better care and outcomes for very seriously ill children. ➤➤ Early warning scores for sick children are being harmonized with the potential for more widely accepted guidelines on early intervention for the sick child.
➤➤ ‘Retrieval’ of sick children and transfer to PICU is an increasingly important part of the work of specialized children’s hospitals.
KEY POINTS • Children who are apparently well can deteriorate very quickly. • Biphasic stridor suggests severe airway obstruction. • Bradycardia and cyanosis are ominous signs in a child with airway obstruction.
• Beware the stridulous child whose breathing becomes quiet– she may be close to cardiac arrest.
• Cross-specialty working between ENT surgeons and PICU is essential in the care of critically ill children.
REFERENCES 1. http://www.alsg.org/uk/APLS 2. http://www.alsa.org 3. http://www.alsg.org/uk/PaNSTaR 4. http://picsociety.uk 5. Paediatric Intensive Care Network. 2015 Annual Report. Available from: http:// www.picanet.org.uk/. 6. Lillitos PJ, Hadley G, Maconochie I. Can paediatric early warning scores (PEWS) be used to guide the need for hospital admission and predict significant illness in children presenting to the emergency
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7.
8.
department? An assessment of PEWS diagnostic accuracy using sensitivity and specificity. Available from: http://dx.doi. org/10.1136/emermed-2014-204355. Lambert, V Matthews A, MacDonellR, Fitzsimons J. Paediatric early warning systems for detecting and responding to clinical deterioration in c hildren: a systematic review. BMJ Open 2017; 7(3): e014497. Plunkett A, Tong J. Sepsis in children. BMJ 2015; 350: h3017.
9.
NICE Guideline. Sepsis: recognition, diagnosis and early management. NICE guideline [NG51] July 2016. Available from: https://www.nice.org.uk/guidance/ ng51. 10. General Medical Council. Protecting children and young people: doctors’ responsibilities. Available from: http:// www.gmc-uk.org/guidance/ethical_ guidance/13257.asp.
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4
CHAPTER
ANAESTHESIA FOR PAEDIATRIC OTORHINOLARYNGOLOGY PROCEDURES Crispin Best
Introduction.................................................................................... 23 Patient selection............................................................................. 23 Pre-operative assessment.............................................................. 24 Admission....................................................................................... 25 Preparation and anaesthetist’s visit................................................. 25
Anaesthesia.................................................................................... 25 Post-operative care......................................................................... 27 Specific operations......................................................................... 28 References..................................................................................... 31
SEARCH STRATEGY Data in this chapter are based on the author’s personal bibliography of key papers on paediatric anaesthesia and on his extensive experience in clinical practice. The website of the Association of Paediatric Anaesthetists of Great Britain and Ireland (APA) http://www.apagbi.org.uk is a good source of information on guidelines and current best practice relating to anaesthesia in children.
INTRODUCTION The purpose of this review of anaesthesia for paediatric otorhinolaryngology (ORL) procedures is not to produce a definitive text for the expert anaesthetist working in a tertiary centre; rather it is to give a flavour of the techniques and pitfalls associated with the specialty. Guidance on patient selection and pre-operative preparation is discussed and some aspects are considered in greater detail. Paediatric ORL surgery covers a whole range of conditions from the apparently simple such as the insertion of grommets to complex airway reconstruction. Even simple cases need advance planning. Any treatment episode for a patient is a cooperative effort between all the professionals involved. Only if the team works together will optimum conditions be provided to treat each condition quickly and effectively. From the moment the patient presents, no matter how ‘routine’ the case may be, this principle must be foremost in the minds of all. In the case of the shared airway (vide infra), this is even more critical. Once the patient has been diagnosed, assessed for surgery and anaesthesia and their procedure scheduled, there must be a briefing of all staff at the beginning of the session to ensure that all are fully informed of what is proposed, and that everything is required for full pre-, peri- and post-operative care. More complex cases may require detailed advanced planning.
If in doubt, discuss the case with the anaesthetists well in advance of the day of surgery.
PATIENT SELECTION The reason why families attend an ENT clinic is to seek an opinion for treatment for their child. If surgery is planned, anaesthesia and peri-operative care is a vital part of this process. It is important that whoever sees the patient in clinic is aware of what aspects of the medical history the anaesthetist needs to know. This can be broadly broken down into problems resulting from the condition itself, and associated conditions – both congenital and acquired. These need to be considered in the light of what treatment is proposed.
ORL conditions of anaesthetic relevance Patients with obstructive sleep apnoea may need special nursing care and present challenges for post-operative management (see Chapter 27, Paediatric obstructive sleepapnoea).1 Any patient presenting with stridor or other symptoms of airway obstruction will be a source of particular concern to an anaesthetist. These patients can cause huge problems on induction of anaesthesia and can potentially lead to that most acute of emergencies the 23
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24 Section 1: Paediatrics
‘can’tintubate,can’tventilate’ scenario. Preparation and planning will prevent most of these dramas.
Associated conditions CONGENITAL There are many congenital conditions that may need special consideration in a child undergoing a general anaesthetic. These range from the obvious ones affecting the airway directly, such as laryngotracheal obstruction, to conditions affecting the child’s general health, such as myotonic, neurological or cardiac conditions. Sometimes more than one condition coexists, for example Down syndrome in which patients have abnormal tissues, neck instability with cardiac anomalies such as atrial or ventricular septal defects. Some conditions improve with age, for example Pierre Robin sequence or Goldenhar syndrome, as the micrognathia associated with both improves with age. Some get worse, for example Treacher Collins syndrome and the mucopolysaccharidoses such as Hurler syndrome. 2 It is also useful to know in advance if the patient has any conditions such as attention deficit hyperactivity disorder (ADHD) that may influence behaviour (see Chapter 5, The child with special needs). Children with autistic spectrum disorders (ASD) need to be identified well in advance of surgery. Many struggle with disturbance of their routine and are best having surgery on a day admission basis, preferably first on the list and with early discharge so that they can get back to their normal surroundings as soon as possible.
ACQUIRED These conditions will be what patients usually present with, for example subglottic stenosis after prolonged endotracheal intubation, laryngeal webs and recurrent respiratory papillomatosis. Knowledge of what caused the problem and what has been done previously makes anaesthesia less of a challenge.
Drug history Children fortunately do not tend to be the victims of the polypharmacy that afflicts the modern elderly adult. Itis useful to document drugs that affect the heart, lungs and nervous system so that we can ensure that long-term conditions continue to be treated. Several of these may directly affect the conduct of the anaesthetic, including beta-blockers, vasodilators and diuretics.
Nature of procedure Many ENT operations are considered ‘routine’. Procedures such as adenotonsillectomy and insertion of drainage tubes into the middle ear are the bulk of the operative work of a department and children undergoing this type of surgery will not ordinarily need any special anaesthetic considerations unless the patient has any of the associated factors
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outlined above, or unless they have significant obstructive sleep apnoea (OSA). Other procedures (e.g. microlaryngoscopy and bronchoscopy) may be considered ‘routine’ in a tertiary referral centre. Which children need to be discussed individually in advance of surgery will depend on the experience of the surgeon and anaesthetist and on what is done in that particular unit.
Where do we operate? The surgeon assessing the patient needs to consider where the procedure should be carried out. This depends on the nature of the case, the experience and practice of the team and the peri-operative facilities available on site, including nursing care and the availability of ventilatory support. Some cases are best suited to a tertiary referral centre and, if in any doubt, the staff at these institutions will be pleased to discuss the case with any referring clinician.
More detailed planning It may be necessary to involve other disciplines in the care of cases which are difficult in themselves (e.g.major airway reconstructions) or where the patient has significant comorbidities. It is the practice in our institution to have a multidisciplinary meeting once a month where surgeons, anaesthetists, intensivists, specialist nurses and any other disciplines necessary meet and discuss forthcoming cases in detail. In this way PICU and HDU beds can be booked in advance, and ward and anaesthetic staffing rosters can be planned. If in doubt, discuss the case with the anaesthetists.
PRE-OPERATIVE ASSESSMENT It is becoming common practice for children and their parents or carers to attend a pre-operative assessment clinic before any operative procedure. It should be borne in mind that attending hospital with a child is in itself disruptive for both child and family, so ideally the patient should attend the pre-operative assessment clinic on the same day that they are seen by the surgeon. Pre-op clinics are typically conducted by an experienced and suitably trained children’s nurse. At this clinic the staff can take a history, examine the child and help prepare them for the procedure. This may include the provision of written and illustrated materials, which the family can peruse at home. It should be emphasized that, useful though these leaflets can be, they are no substitute for a proper interview with the anaesthetist. Any material used should also be prepared in conjunction with the anaesthetic department in order to reflect current practices and guidelines. If any problems are detected at this clinic, there should be a prompt communication with both surgeon and anaesthetist to aid planning. It is pointless for a patient to attend such a clinic if they then present on the day with something which should have been dealt with earlier.
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ADMISSION Whether a patient is admitted on a day-case basis (ambulatory care) or for overnight stay depends on local policies, geography and the nature of the operation. Many hospitals now carry out tonsillectomy, adenoidectomy, microlaryngoscopy and bronchoscopy and other similar procedures on a day-case or ‘23-hour’ basis. 3 Irrespective of the time the patient stays in hospital, several things must happen before the operation commences.
PREPARATION AND ANAESTHETIST’S VISIT
4
ANAESTHESIA
The patient’s weight and temperature must be checked. This allows the calculation of drug doses and early warning of any infections that may be present. The operating surgeon must see the patient, obtain consent for the procedure if this has not already been done, and mark the site of the operation if appropriate. The anaesthetist will see the patient, check the patient’s general condition and confirm their suitability for anaesthetic. Careful note will be taken of any infection, especially of the respiratory tract. An active symptomatic respiratory tract infection causes a large increase in anaesthetic problems and these children should have their procedures delayed for 2 weeks until they have recovered. The anaesthetist will also explain the induction of anaesthesia to the patient and family and deal with any concerns they may have. In addition, they will discuss the post-operative period, especially with regard to analgesia.4
Fasting guidelines It is very important that the patient is adequately fasted for the procedure (Table4.1). Nothing ruins the anaesthetist’s day like the appearance of a wave of vomit coming towards the airway on induction of anaesthesia. Compliance with guidelines can be patchy; parents sometimes misunderstand instructions or for one reason or another do not give accurate information, so detailed questioning may be necessary. 5
Premedication Some patients may require ‘premedication’ to reduce anxiety. As all the commonly used agents are sedative, they are almost always contraindicated in any patient who has an obstructed airway for any reason. If one is to be TABLE 4.1 Fasting guidelines Food/drink
Fasting time (hours)
Clear fluids*
2
Breast milk
4
Formula or cow’s milk
6
Pastes and solids
6
* Clear fluids include diluting juice but NOT natural fruit juices.
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used, it must be only on the expressed instructions of the anaesthetist performing the procedure. Anticholinergics are sometimes given to dry up secretions and militate against the bradycardic effects of volatile anaesthesia. It is not our practice to use them as we find that we have more problems post-operatively with patients being unable to clear sticky secretions. They are, however, always drawn up ready for use in an emergency. Local practices will vary according to anaesthetic preference. As always, if in doubt, discuss the case with the anaesthetists.
Briefing Any operation is a cooperative venture. Before any operating list is started, the full team must assemble and there must be a thorough briefing given where all members can discuss the cases of the day. This will ensure that the list is correct, treatment plans can be finalized and the availability and operability of any specialized equipment that may be necessary can be checked. This is in line with the WHO recommendations on surgical safety, which also include a checklist to be completed before every individual case is started (Figure4.1).6
Basic principles There are few occasions in anaesthesia and surgery where the surgeon and anaesthetist work so closely together as in paediatric ENT procedures. Many of these involve a shared airway, and it must be accepted that, in the case of any deterioration in the condition of the patient, the anaesthetist must be allowed instant and full access to the patient to deal with the immediate problem. The surgeon’s role in this circumstance is to provide assistance to the anaesthetist, which may extend in life-threatening circumstances to the provision of an emergency surgical airway. Ittherefore follows that any surgeon undertaking an operating list that includes patients likely to need emergency care must be capable of performing such a procedure. Unlike the adult situation, cricothyroid membrane puncture on children is difficult and has a high failure rate irrespective of how it is done, so in extremis a surgical cricothyrotomy or tracheostomy may need to be carried out urgently.7
Technique The choice of anaesthetic technique will be largely dependent upon the type of operation being performed, the nature of the patient and any specific requests from the surgeon to assist with the operation. The well-known anaesthetic triad of ‘anaesthesia, analgesia and relaxation’ can be obtained in a number of different ways. Similarly, whether the patient should breathe spontaneously or be ventilated and whether they should be intubated or not will be covered in ‘Spontaneous respiration vs endotracheal intubation and paralysis’ below.
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26 Section 1: Paediatrics
TIME OUT
Before skin incision
SURGEON, ANAESTHESIA PROFESSIONAL AND NURSE REVIEW THE KEY CONCERNS FOR RECOVERY AND MANAGEMENT OF THIS PATIENT
WHETHER THERE ARE ANY EQUIPMENT PROBLEMS TO BE ADDRESSED
HOW THE SPECIMEN IS LABELLED (INCLUDING PATIENT NAME)
THAT INSTRUMENT, SPONGE AND NEEDLE COUNTS ARE CORRECT (OR NOT APPLICABLE)
THE NAME OF THE PROCEDURE RECORDED
NURSE VERBALLY CONFIRMS WITH THE TEAM:
SIGN OUT
Before patient leaves operating room
SURGICAL SAFETY CHECKLIST (FIRST EDITION) Before induction of anaesthesia SIGN IN
SURGEON, ANAESTHESIA PROFESSIONAL AND NURSE VERBALLY CONFIRM • PATIENT • SITE • PROCEDURE
CONFIRM ALL TEAM MEMBERS HAVE INTRODUCED THEMSELVES BY NAME AND ROLE
ANAESTHESIA SAFETY CHECK COMPLETED
ANTICIPATED CRITICAL EVENTS
PATIENT HAS CONFIRMED • IDENTITY • SITE • PROCEDURE • CONSENT
PULSE OXIMETER ON PATIENT AND FUNCTIONING
SITE MARKED/NOT APPLICABLE
DOES PATIENT HAVE A:
NURSING TEAM REVIEWS: HAS STERILITY (INCLUDING INDICATOR RESULTS) BEEN CONFIRMED? ARE THERE EQUIPMENT ISSUES OR ANY CONCERNS?
ANAESTHESIA TEAM REVIEWS: ARE THERE ANY PATIENT-SPECIFIC CONCERNS?
SURGEON REVIEWS: WHAT ARE THE CRITICAL OR UNEXPECTED STEPS, OPERATIVE DURATION, ANTICIPATED BLOOD LOSS?
KNOWN ALLERGY? NO YES DIFFICULT AIRWAY/ASPIRATION RISK? NO YES, AND EQUIPMENT/ASSISTANCE AVAILABLE RISK OF >500 ML BLOOD LOSS (7 ML/KG IN CHILDREN)? NO YES, AND ADEQUATE INTRAVENOUS ACCESS AND FLUIDS PLANNED
HAS ANTIBIOTIC PROPHYLAXIS BEEN GIVEN WITHIN THE LAST 60 MINUTES? YES NOT APPLICABLE IS ESSENTIAL IMAGING DISPLAYED? YES NOT APPLICABLE
THIS CHECKLIST IS NOT INTENDED TO BE COMPREHENSIVE. ADDITIONS AND MODIFICATIONS TO FIT LOCAL PRACTICE ARE ENCOURAGED.
Figure 4.1 WHO Surgical Safety Checklist (from http://whqlibdoc.who.int/publications/2009/9789241598590_eng_Checklist.pdf6).
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Equipment In addition to the full range of anaesthetic equipment that should be present in all locations where anaesthetics are given, there are several features that should receive extra attention (Figure4.2). Although any child when anaesthetized may have a ‘difficult’ airway, this is much more likely in a situation where the patient is being anaesthetized for the investigation of just such a condition. Although every theatre suite should have a difficult intubation trolley containing emergency equipment, there is a case for duplication of this provision where elective airway work is being done. Specific items may be a matter for personal choice, especially with regard to equipment such as types of laryngoscope blade, for example. Recent reviews8, 9 have emphasized the need for training and a common approach to any problems. As well as the more traditional endotracheal tubes and face masks, the use of the laryngeal mask has proved invaluable in some cases of the difficult airway. Once one of these is in place, if the airway needs to be secured further, a fibre-optic intubation can be performed through the mask using a guide wire and airway exchange catheter, and the laryngeal mask removed.10 This kind of procedure is complex and ideally should be planned in advance. In addition to the traditional range of anaesthetic laryngoscopes, the anaesthetist may also have recourse to a number of newer video and fibre-optic devices (Figure4.3).11,12 To a large extent, which is to be used is a matter of personal preference, however it is important for every unit to choose only one, and become expert in its use during routine cases. An emergency is no time to learn how to use an unfamiliar piece of equipment.
‘Can’t intubate, can’t ventilate’ This is a situation every anaesthetist dreads and, as mentioned above, the surgeon may be called upon to assist
4
Figure 4.3 McGrath videolaryngoscope. This is one of the more effective types of videolaryngoscope, enabling a view of the larynx when conventional methods may not be adequate.
in obtaining an airway. NEVER FORGET the option of waking the patient up. The case can then be planned for another time in the light of what has happened.
Assistance The anaesthetist must have a trained assistant. This may be an experienced operating department assistant or nurse or another anaesthetist. Irrespective of who this person is, they must be familiar with local policies and guidelines, have a good knowledge of the available equipment and how it is used, and have taken part in the pre-operative briefing.
POST-OPERATIVE CARE
Figure 4.2 Basic set of equipment for paediatric airway anaesthesia. Included are face mask with a soft seal, different types of anaesthetic laryngoscope, endotracheal tube and laryngeal mask, Guedel airways, Magill forceps and an intubating bougie.
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There is little point in proceeding with complex anaesthesia and surgery if facilities do not exist to care for the patients post-operatively. The post-anaesthesia care unit (PACU) must be staffed to a defined level of competence, and there must be equipment available in the unit to deal with any emergency, including emergency drugs and an anaesthetic machine. More complex cases may require the services of a high dependency or intensive care unit. The basic rule is never to start a case unless you have the facilities to finish it. The Association of Anaesthetists of Great Britain and Ireland has published general recommendations for organization and staffing.13 If an emergency case has to be done where appropriate facilities do not exist, the anaesthetic team must recover the patient. Patients should not be discharged from the PACU until the anaesthetist/ recovery staff are sure that the patient is fully conscious, is appropriately hydrated, is not in pain and has had appropriate analgesia prescribed as well as full instructions to
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28 Section 1: Paediatrics
the ward on post-operative care. A handover sheet, which can be filled out by staff, is very useful for this purpose. When patients are discharged, they should be provided with information sheets particular to their procedure, containing contact details for the institution should they have any problems.14 NEVER start a new case until the last patient is safe.
SPECIFIC OPERATIONS Tonsillectomy and adenoidectomy This is probably the commonest operation performed bythe ENT surgeon. Surgical options are ‘cold steel’ dissection, or the use of the coblator or harmonic scalpel systems. Anaesthetically, the choice of airway management is to use either an endotracheal tube (ETT) or a laryngeal mask airway (LMA). The ETT is more secure than an LMA and is easier for the surgeon to keep out of the way in placing a Boyle Davis gag. However, the LMA is quicker and easier for the anaesthetist to place. The choice will depend ultimately upon surgical and anaesthetic preference. It important never to compromise an airway merely for convenience’s sake. Another discussion is whether to admit these patients as day cases (by which is meant early morning admission and evening discharge) or for an overnight stay. This will depend upon local facilities, patient population and patient preference, among other things. Analgesia must be effective no matter what system is chosen. A useful review covers this subject in more detail.15 Antiemesis can be helped with dexamethasone,16 ondansetron or a combination of the two. Remember that patients can swallow a little blood during the operation, which can often lead to a vomit afterwards. This is of no consequence if small and not repeated. Post-operative analgesia in our institution is provided by regular oral ibuprofen, with paracetomol as required. We do not give any form of oral opiate as a take-home drug; instead, patients are asked to contact us if they have any problems.
Airway examination and treatment There is no doubt that the treatment of a compromised paediatric airway is one of the most challenging procedures to face any operative team, particularly for the anaesthetist. Not only will the patient have to be kept safe, but also there is little point in the child having an anaesthetic unless the surgeon is able to do the procedure. Safety is paramount. Surgery will not proceed until the anaesthetist is satisfied that the patient is in a fit state for that to happen. It must be remembered that waking the patient up again if the airway cannot be adequately secured is always an option. Recent reviews have emphasized the importance of training and a considered approach.17,18 Patients will present with a variety of conditions, both congenital and acquired, which will be covered in other chapters of this book.
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SPONTANEOUS RESPIRATION VS ENDOTRACHEAL INTUBATION AND PARALYSIS The basic principle of paediatric airway anaesthesia is to keep the patient breathing. This sounds almost too obvious to state, but it must be remembered that all anaesthetic agents of whatever type depress respiration and reduce muscle tone such that a patient who, when awake, is capable of maintaining their own airway promptly loses it when anaesthetized. Additionally, in some cases such as mediastinal tumours the patient may be impossible to intubate in an emergency, making rescue very difficult if they have a respiratory arrest. A careful gas induction using sevoflurane in oxygen is the preferred method for anaesthetizing these patients. The airway is being constantly observed as the patient becomes anaesthetized and the process is gradual and controllable. Intravenous access, if not gained beforehand to avoid upsetting the patient, can be gained as soon as possible and the airway is under constant control. Unlike the adult situation where the bulk of examination is for tumour or infection, the majority of paediatric patients present with disorders of breathing requiring further investigation. If they are intubated and paralysed, tracheo- or laryngomalacia may not be seen due to the pressure effects of insufflated gas. Similarly, if the patient is intubated for ventilation, the pressure of the endotracheal tube may squash pathology such as tracheal haemangiomata, making them impossible to see. The ideal situation for both diagnosis and treatment of airway problems is the spontaneously breathing patient maintaining their own airway. This can be achieved either by using a volatile anaesthetic agent in oxygen or by the use of total intravenous anaesthesia (TIVA). Whichever method is used depends upon anaesthetic and institutional preference. The use of a volatile agent has the benefit of simplicity in that the patients control their own depth of anaesthesia. If they become ‘light’, they breathe up and get deeper; if ‘deep’, the respiratory rate slows down, thereby lightening the anaesthetic. TIVA can be quite labour-intensive, as the rates of the infusions may have to be constantly adjusted according to circumstance. This takes the anaesthetist’s attention away from the airway at what may be a crucial time. The larynx is also sprayed with lidocaine to decrease the response to instrumentation, although care must be taken to ensure the patient is anaesthetized deeply enough to avoid temporary laryngospasm when this is done. Oxygenation can be obtained by means of a nasal airway attached to an Ayres ‘T’ piece anaesthetic circuit. If the patient is to be ventilated, they are better intubated. Jet ventilation, frequently used in adults, carries significant risk of barotrauma in small children although some centres use it successfully.19 This is not our practice, as we believe the disadvantages far outweigh any benefits. Finally, a dose of dexamethasone is given to patients to try to reduce any oedema that may affect the airway postoperatively. The evidence for this is scanty but most experienced airway anaesthetists feel that this is of value. 20
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In summary, a logical approach with a high degree of safety is a gas induction of anaesthesia with sevoflurane or halothane (if available) in oxygen, the establishment of intravenous access if not already present, getting the patient deep enough to spray the larynx with lidocaine and the nose with xylometazaline, and maintenance of anaesthesia with spontaneous respiration using insufflated volatile with oxygen via a nasal airway. This has the added benefit of leaving instrumentation of the airway to the surgeon, as the anaesthetic has not affected the airway appearance. Once the patient is stable on the operating table, any surgical examination and intervention can take place.
Micro-laryngoscopy and bronchoscopy Examination of the airway is essential to diagnosis and treatment. There are a variety of methods including suspension laryngoscopy, examination with a Hopkins rod and bronchoscopy. Suspension laryngoscopy is used for detailed examination of the larynx and associated structures (Figure4.4). Great care must be taken not to overextend the neck, especially with conditions such as Down syndrome where there is a pre-existing instability. The mechanical advantage of the wheel used to adjust the suspension is enormous; the anaesthetist must watch this closely and stop the surgeon if the neck is moved too far. The bronchoscope has a side arm for the attachment of the anaesthetic circuit and the delivery of gases (Figure4.5). It also has side holes along the shaft to allow ventilation of both lungs when the instrument has been passed down one bronchus. When the surgeon first places the instrument, it must be passed down to the carina or these side holes may still be in the pharynx, preventing proper ventilation and control of the airway. At every stage of the examination the surgeon must check with the anaesthetist that the patient is stable and well oxygenated. Communication is key; there must be a
constant dialogue between the two. During any examination the anaesthetist must ensure that, when the surgeon is assessing the airway, the patient is not subjected to any degree of positive pressure from the anaesthetic circuit. This may distend the trachea or bronchi and make airway collapse much less apparent. However, positive pressure can be applied on demand to assess how much a collapsed airway can open.
4
Removal of airway foreign body The approach here is the same as above, except that grasping forceps may be used either on their own with the aid of a Hopkins rod or through a bronchoscope. The preferred method is to have the patient breathing spontaneously as some feel that positive-pressure ventilation may force bits of the object further into the respiratory tree and the paralysed patient will, by definition, have periods of apnoea when examination and retrieval are taking place. However, jet ventilation can be used as long as the astute anaesthetist is aware of potential problems. 21
Laser surgery Laser surgery is covered in more detail in a review. 22 Safety is the prime consideration, and the laser must never be used unless staff are properly trained in its use and all appropriate precautions are taken.
Reconstruction of the airway There are a large number of procedures that can be carried out for reconstruction of the airway, ranging from a cricoid split to full tracheal reconstruction under cardiopulmonary bypass. The principles, however, are exactly the same as above, i.e.scrupulous attention to the airway and good communication with the surgeon. If we take the example of an anterior laryngotracheal graft, the procedure may be as follows. Figure 4.5 Bronchoscope. Note the side holes towards the end of the ’scope, and the plastic mount for attaching the anaesthetic ‘T’ piece. This one is prepared for laser surgery, with a Hopkins rod and YAG laser fibre in situ, which reduces the bore of the system considerably, making it even more important to keep gas leakage as low as possible.
Figure 4.4 Laryngoscope and suspension. This illustrates the lever formed by the laryngoscope with the arm of the suspension system. The wheel at the top, which is used for adjusting the extension and flexion of the head on the neck, has a considerable mechanical advantage and damaging overextension could result.
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30 Section 1: Paediatrics
Pre-operatively the patient is breathing normally, albeit partially obstructed. In this case the patient will be orally intubated with a smaller than normal-sized ETT. The surgeon will then make a tracheostome for the duration of the operation through which the anaesthetist will ventilate the patient, and the patient will then have a nasal ETT placed at the end of the procedure. The tip of the ETT can be positioned under direct vision by the surgeon before the tracheal incision is closed. The patient remains intubated for some days post-operatively, with the head in a neutral position to allow time for the trachea to heal.
Tracheostomy A paediatric tracheostomy differs from the adult in technique, as a vertical slit is made in the trachea after placing two lateral support sutures. Anaesthetic technique will depend upon why the patient is having the procedure. A stoma for a patient who requires one for chronic ventilation is very different from one who is undergoing the procedure for an acute airway problem. The anaesthetist, who may have to sit at the head of the patient manually supporting the airway, must guide the surgeon. Once the surgeon has identified the trachea and made a vertical slit, the endotracheal tube will be slowly withdrawn under direct vision until the tracheostomy tube can be inserted. Post-operative care is key; the stay sutures remain in place and are stuck to the chest with tape while a track forms. This will enable a replacement tube to be placed in the event of the first one being displaced or falling out.
Ear operations GROMMETS The commonest operation and one of the simplest. Beware this illusion. The patient is still fully anaesthetized and asleep is asleep. The anaesthetist will probably use a laryngeal mask airway. The surgeon must check that the patient is fully prepared before starting: a myringotomy is highly stimulating and the patient suddenly moving as the incision is made could be disastrous.
MIDDLE AND MAJOR EAR OPERATIONS The requirement seen in adult surgery for induced hypotension during the procedure is not necessary in children. Children have a lower resting blood pressure than adults, and modern anaesthetic agents can produce a good operating field for the surgeon without recourse to betablockers or vasodilators. Placing the patient a little ‘head up’ to reduce venous pressure and ventilating the patient to normocapnia is often all that is necessary. The use of nitrous oxide is a little more controversial: some believe it increases the pressure in the middle ear, some that it makes no difference, and evidence can be found in the literature for both positions. Ultimately, this is a question of operator preference and should be discussed with the anaesthetist beforehand.
Nasal surgery ADENOIDECTOMY Adenoidectomy is either a single procedure or carried out in conjunction with the placement of grommets and/or tonsillectomy. Again, the choice of how to maintain the airway is a matter of discussion between surgeon and anaesthetist.
REDUCTION OF NASAL FRACTURE This ostensibly simple operation can be fraught with danger: the nasal bone may have to be refractured in order to get a good result and this can occasionally result in atorrential haemorrhage. The anaesthetist is best advised to use a laryngeal mask airway and place a throat pack before the surgeon proceeds. No one wants to have to deal with an unprotected airway rapidly filling up with blood.
Head and neck This can range from a ‘lumpectomy’ to the excision of branchial or thyroglossal cysts. Operations common in adults, such as total laryngectomy, are fortunately extremely unusual in children. The anaesthetist will ensure that the airway is protected by placing an endotracheal tube. A laryngeal mask airway is not secure enough when the head is fully draped, as the head position may be changed during the procedure to improve surgical access.
KEY POINTS • The airway must be protected at all times. If there is any
• Never forget that the patient can always be woken up again,
problem whatsoever, the anaesthetist must instantly be given as much access as required. • Good communication is crucial. Never start a procedure until there has been a full briefing of all involved staff. This is the time to plan for any problems, not when they occur.
to come back another day. Do not persist in the face of adversity. • Finally, if in any doubt, discuss the case with the anaesthetist.
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REFERENCES 1.
2. 3.
4.
5.
6.
7.
Raghavendran S, Bagry H, Detheux G, etal. An anesthetic management protocol to decrease respiratory complications after adenotonsillectomy in children with severe sleep apnea. Anesth Analg 2010; 110(4): 1093–101. Sims C, von Ungern-Sternberg BS. The normal and the challenging pediatric airway. Pediatr Anesth 2012; 22(6): 521–6. Bajaj Y, Atkinson H, Sagoo R, et al. Paediatric day-case tonsillectomy: a threeyear prospective audit spiral in a district hospital. J Laryngol Otol 2012; 126(2): 159–62. von Ungern-Sternberg BS, Boda K, Chambers NA, et al. Risk assessment for respiratory complications in paediatric anaesthesia: a prospective cohort study. Lancet 2010; 376(9743): 773–83. Cantellow S, Lightfoot J, Bould H, Beringer R. Parents’ understanding of and compliance with fasting instruction for pediatric day case surgery. Pediatr Anesth 2012; 22(9): 897–900. World Health Organization. WHO Surgical Safety Checklist [Internet]. whqlibdoc.who.int. Available from: http://whqlibdoc.who.int/publications/2009/9789241598590_eng_ Checklist.pdf. Stacey J, Heard AMB, Chapman G, et al. The “can‘t intubate can’t oxygenate” scenario in pediatric anesthesia: a comparison
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8.
9. 10. 11.
12.
13.
14.
of different devices for needle cricothyroidotomy. Pediatr Anesth 2012; 22(12): 1155–8. Weiss M, Engelhardt T. Proposal for the management of the unexpected difficult pediatric airway. Pediatr Anesth 2010; 20(5): 454–64. Engelhardt T, Weiss M. A child with a difficult airway. Curr Opin Anaesthesiol 2012; 25(3): 326–32. Walker RWM, Ellwood J. The management of difficult intubation in children. Pediatr Anesth 2009; 19: 77–87. Holm-Knudsen R. The difficult pediatric airway: A review of new devices for indirect laryngoscopy in children younger than two years of age. Pediatr Anesth 2010; 21(2): 98–103. White MC, Cook TM, Stoddart PA. Acritique of elective pediatric supraglottic airway devices. Pediatr Anesth 2009; 19: 55–65. Immediate Postanaesthesia Recovery [Internet]. aagbi.org. Available from: http://www.aagbi.org/sites/default/files/ postanaes02.pdf Dorkham MC, Chalkiadis GA, vonUngern-Sternberg BS, Davidson AJ. Effective postoperative pain management in children after ambulatory surgery, with a focus on tonsillectomy: barriers and possible solutions. Paediatr Anaesth 2014; 24(3): 239–48.
15. Raeder J. Ambulatory anesthesia aspects for tonsillectomy and abrasion in children. Curr Opin Anaesthesiol 2011; 24(6): 620–6. 16. Waldron NH, Jones CA, Gan TJ, et al. Impact of perioperative dexamethasone on postoperative analgesia and side-effects: systematic review and meta-analysis. Br J Anaesth 2013; 110(2): 191–200. 17. Best C. Paediatric airway anaesthesia. Curr Opin Anaesthesiol 2012; 25(1): 38–41. 18. Sunder RA, Haile DT, Farrell PT, SharmaA. Pediatric airway management: current practices and future directions. Paediatr Anaesth 2012; 22(10): 1008–15. 19. Chen L-H, Zhang X, Li S-Q, et al. The risk factors for hypoxemia in children younger than 5 years old undergoing rigid bronchoscopy for foreign body removal. Anesth Analg 2009; 109(4): 1079–84. 20. Anene O, Meert KL, Uy H, et al. Dexamethasone for the prevention of postextubation airway obstruction: a prospective, randomized, double-blind, placebo-controlled trial. Crit Care Med 1996; 24(10): 1666–9. 21. Zur KB, Litman RS. Pediatric airway foreign body retrieval: surgical and anesthetic perspectives. Pediatr Anesth 2009; 19: 109–17. 22. Best C. Anesthesia for laser surgery of the airway in children. Paediatr Anaesth 2009; 19 Suppl 1: 155–65.
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5
CHAPTER
THE CHILD WITH SPECIAL NEEDS Kate Blackmore and Derek Bosman
Introduction....................................................................................33 Terminology....................................................................................33 General considerations...................................................................33 Prognosis, palliation and quality of life............................................34
The ear and hearing loss................................................................35 The upper aerodigestive tract.........................................................36 Surgery in the child with special needs........................................... 37 References.....................................................................................38
SEARCH STRATEGY Data in this chapter may be updated by a Medline search using the keywords: special needs, cerebral palsy, disability, prematurity, neurodisability, Down syndrome, hearing loss, cochlear implant, obstructive sleep apnoea, laryngomalacia, tonsillectomy/adenoidectomy andaryepiglottoplasty.
INTRODUCTION While the majority of paediatric otolaryngology deals with routine work in the well child, there is a significant part of the workload for the paediatric otolaryngologist that deals with children with special needs. The incidence and survival of very preterm infants has increased dramatically over the last few decades and with this comes increased morbidity.1, 2 Children with special needs are prone to the usual childhood otolaryngological problems but they are also predisposed to specific problems mainly related to airway difficulties and hearing loss. The whole approach to treating a child with special needs is different and requires special consideration.
TERMINOLOGY An impairment describes a pathological process (e.g.cerebral palsy) and a disability is the consequence of an impairment. A handicap is a disability of body or mind which interferes with the ability to lead a normal life or to benefit from a normal education. 3 Although terms such as handicap and disability are used commonly in the medical literature, they can be upsetting to parents, and doctors should be sensitive to this. Special needs is an umbrella underneath which a diverse range of needs often caused by a medical, physical, mental
or developmental condition or disability can be categorized. It can include cognitive difficulties, physical or sensory difficulties, emotional and behavioural difficulties, and difficulties with speech and language. This term seems to be more commonly acceptable to parents.
GENERAL CONSIDERATIONS Hospital appointments The clinical environment in which children with special needs are seen is important. The consulting room needs to be large enough to accommodate wheelchairs and equipment along with room for the carers. It is paramount that these families are not kept waiting for long periods in the outpatient department as this can cause great difficulties and distress for the child. Childfriendly waiting areas and the presence of play therapists can help minimize distress and upset during outpatient consultations. Ideally, hospital appointments should be kept to a minimum. Children with multiple comorbidities will see many different specialties, resulting in frequent trips to the hospital. The disruption to the child’s routine can be significant. Specialist clinics that bring clinicians and allied healthcare workers together offer a great advantage to both the clinicians and the family, for example a tracheostomy clinic 33
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34 Section 1: Paediatrics
bringing together ENT, respiratory paediatricians and speech and language therapists. Clinicians should also not forget the cost implications of multiple hospital appointments. A recent cross-sectional study in the UK revealed that children with multiple comorbidities are more commonly born to families in the lower socioeconomic groups so that economic challenges may compound the difficulties of looking after a child with complex needs.4 Whether within a specialist clinic or not, the time required for an adequate consultation is significantly longer than for typically developing children without complex needs and multiple morbidities and this should be acknowledged when planning clinics and operating lists. Histories are more complex, examination is more challenging and discussions regarding treatment, particularly potential surgery, require more detailed explanation and planning.
Communication Good doctor patient/parent communication has been shown to result in improved patient knowledge, better adherence to treatment, decreased surgical morbidity and greater satisfaction with care. 5, 6 This is especially true when treating children with special needs. Good, clear communication with the parents/carers, the child and any healthcare professionals involved with the child is paramount.
Inchildren with special needs these seemingly minor issues can be particularly important and it is essential that the doctor takes the time to answer all the parents’ questions.
PATIENT/CHILD Children should be involved in as much of the consultation as possible. They should be given information in a way they can understand it, given choices about their care and asked their opinion. Children will often understand more than has been assumed. 6 This was shown in Bluebond-Langner’s study of terminally ill children in which children as young as 3 years were aware of their diagnosis and prognosis despite not being told by an adult.7 While involving the patient may be more difficult in a child with special needs, it is important that any child who has the ability to understand and process the information is given the opportunity to do so. Increased understanding will heighten confidence, decrease fear and improve the level of trust between the child and their parent/doctor. However, this has to be undertaken with the agreement of the parents – giving too much information may be severely detrimental to a child with special needs. Again, where possible, understanding the child’s priorities regarding their health care and what they deem to be important for improving their quality of life should not be underestimated.
COLLEAGUES PARENTS/CARERS In assessing children with complex problems it is often tempting to used closed questioning to control the duration of the consultation. Parents perceive this approach as showing a lack of interpersonal interest and ultimately it will result in a suboptimal consultation. Parents have greater trust in doctors who allow them to tell their whole story, express their concerns and listen to their ideas. 5,6 Parents of children with multiple comorbidities or complex problems will be ‘experts’ in their children and want, rightly, their views and concerns to be addressed in any decision-making. Decisions about care and management should be part of a family-centred process in the majority of cases. It is also important to recognize that the parents’ priorities for their child may not reflect your own. For example, parents of a child with a tracheostomy may be keen for early decannulation, or conversely may be reluctant to consider decannulation as they are nervous about losing the security of what they perceive as a ‘safe’ airway. Parents commonly report that doctors do not give enough information with regard to their child’s surgery or health status, particularly in the context of chronic or terminal illness.5,6 While we may feel that we have covered all the essential information in explaining, for example, a surgical procedure, its complications and recovery time, it is some of the more minor points that can be important to the parents: how much hair will be removed, the site of the intravenous cannula, how long until their child can eat.
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Children with special needs will often be under the care of many different specialties and it is vital that there is clear communication between everyone in the healthcare setting. All involved clinicians and allied healthcare workers should be copied in to letters from outpatient consultations and inpatient attendances. This clear communication ensures that everyone involved is aware of the child’s current health status and treatment plans. It also allows for the potential coordination of multiple procedures under a single general anaesthetic (e.g.blood tests and tooth extraction), which will decrease the amount of undue stress on the child.
PROGNOSIS, PALLIATION AND QUALITY OF LIFE Full discussion of this issue is beyond the scope of this chapter but it is important that we take time to consider some areas that we will have to address during our work with children. The significant advances in neonatology over recent years have dramatically increased the survival of extremely premature babies.8–11 There was a 44% increase in the number of extremely premature babies admitted to the neonatal intensive care units in the UK over the 10-year period from 1995 to 2006,10 although evidence suggests that the long-term morbidity, particularly n eurodisability,9 of the survivors has remained unchanged.10
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5: THE CHILD WITH SPECIAL NEEDS 35
Because of the advances we have seen in neonatology, doctors are increasingly likely to have to make difficult decisions about whether to start or continue invasive life-sustaining treatment with the known risk of a poor long-term prognosis. Withholding or withdrawing lifesustaining treatment in a neonate, or indeed a child of any age, is extremely difficult and often highly charged and emotive. While advances in technology make it increasingly possible to sustain life, this may only increase pain and suffering to the child and their family. It is essential that the healthcare team has allowed enough time to gather information about the child’s condition and other relevant problems before any discussions or decisions on whether further treatment is appropriate can be made.3 Decisions should never be rushed. The Royal College of Paediatrics and Child Health document Withholding or withdrawing life sustaining treatment 3 gives guidance on the circumstances when withholding or withdrawing treatment should be considered. The guidelines advise that, if the future life of the child will be ‘impossibly poor’, then it would be reasonable to withhold treatment. In a child whose life is already ‘impossibly poor’ and there is no sign that this will improve in the foreseeable future, then it would be reasonable to consider withdrawing treatment. In situations where withholding or withdrawing treatment is deemed the most appropriate course of action,this should be discussed with the family at an early stage. The family must be given all the information they require, along with enough time to be able to understand and process it. They should also be given the opportunity to seek a second opinion if they wish. The consent of the parents is important for the final decision to be made, but the ultimate responsibility lies with the healthcare team. This may help lessen the guilt that some parents/carers feel following decisions in these situations. 3 Reaching a decision to withdraw or withhold treatment does not mean cessation of care. The provision of palliative care to provide pain relief, alleviation of other symptoms (e.g.airway distress) and also support the emotional, social and spiritual needs of the child and their family is paramount. 3 In situations where withdrawal of treatment is not appropriate but there is an expected progressive morbidity, communication with the family, and the child if appropriate, is again extremely important. When discussing prognosis and long-term morbidity, doctors have a tendency to ‘medicalize’ outcomes and list potential complications and morbidities with percentages of likelihood. While this is obviously an important area, it is imperative that the quality of life the child and family may have is discussed, including the capacity for happiness, and the good and the bad that go along with caring for a child with multiple comorbidities. The positive aspects of what life ahead may look like need to be considered; do not simply dwell on the potential problems.12 What makes a ‘good quality of life’ is a difficult philosophical question to which there would be no unanimous answer. Many people with severe functional limitations consider they have a life of high quality and are happy to
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be living it while an observer may not rate it so highly. Do those living with disabilities have a more positive view of their life because they have never known an alternative?13 Do they find more value in things that able-bodied individuals value less?14 Whatever the answer, it is important that we do not judge the quality of life of those with several functional limitations on the same basis as we view our own lives. Our priority should be to provide a high quality of care to children with disabilities and provide support for their families.
5
THE EAR AND HEARING LOSS Hearing loss Children with hearing loss who have additional disabilities make up a significant proportion of the hearing-impaired paediatric population and they can be a challenging group to manage. It is estimated that 2–4% of neonates in the neonatal intensive care unit will have a significant bilateral hearing loss.15 The underlying cause for sensorineural loss is probably multifactorial, with risk factors such as low birthweight, low Apgar score, hyperbilirubinaemia, ototoxic medication and mechanical ventilation all being well documented.16 It has also been reported that low birthweight babies often have central auditory processing problems, with difficulty discriminating speech and poorer auditory recognition than that of term neonates.17,18 Hearing loss may also be conductive or have a conductive element to it. This is often seen in children with Down syndrome or craniofacial abnormalities, and it has been associated with ventilator-dependent children.19 Hearing loss is associated with delayed speech development and learning at school 20 so it is imperative that these children are picked up by audiological services at the earliest opportunity. In the past, children with multiple comorbidities have been overlooked with regard to improving their hearing simply because of the difficulty in obtaining accurate audiometry. Testing using auditory brainstem responses (ABRs) has allowed detection of hearing loss to be more accurately assessed in children with multiple problems. Fitting of hearing aids at an early stage, regardless of neurological or mental status, has been shown to improve auditory behaviours in a significant proportion of children with multiple disabilities. 21 However, there will be a number that do not improve or simply cannot tolerate wearing the aids. There may also be difficulties fitting the aid in a congenitally narrow external meatus, or increased problems with wax impaction or recurrent otitis externa as a result of the mould. Cochlear implantation in children with profound hearing loss and other disabilities was a controversial issue in the earlier days of implantation. There is increasing evidence that children with additional disabilities can benefit greatly from a cochlear implant. 22–26 This group of children may not achieve the same outcomes with regard to open set speech recognition as those with no other disabilities
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36 Section 1: Paediatrics
but in the majority of cases they have improved speech perception and communication abilities. 22 Being able to predict the outcomes of surgery in children with additional disabilities is obviously much more difficult and parents must have realistic expectations of surgery.
high positive predictive value for detection of cholesteatoma and may reduce the number of second-look procedures in canal wall-up surgery. 30, 31 One drawback in paediatric patients with special needs is that it will almost certainly have to be undertaken under general anaesthetic.
Middle ear disease
THE UPPER AERODIGESTIVE TRACT
OTITIS MEDIA WITH EFFUSION
Children with complex physical comorbidities, particularly neurological, will frequently have respiratory problems and feeding difficulties. There may be a number of contributory factors which may have an overall cumulative effect.
Otitis media with effusion (OME) is common in the paediatric population and the associations with speech and language delay in early childhood and poor behaviour have been well reported. 27–29 Children with multiple disabilities are often already predisposed to language deficits and behavioural and learning difficulties. Children with craniofacial abnormalities are more susceptible to OME due to the presence of a small nasopharynx and Eustachian tube anomalies, and there should be a heightened awareness when seeing these children. Diagnosis can be difficult as examination is often challenging, particularly in the presence of wax impaction or anatomical changes such as narrow external canals in children with Down syndrome. If obtaining hearing thresholds with age-appropriate audiometry and tympanometry is not possible, it may be necessary to undertake ABR under a general anaesthetic. This would also allowany necessary ear toilet and thorough examination of the tympanic membrane/ attic plus the insertion of ventilation tube if appropriate. Controversies regarding ventilation tube insertion in children with Down syndrome will be discussed in Chapters 6, The child with a syndrome and 13, Otitis media with effusion.
CHOLESTEATOMA Cholesteatoma in a child with special needs is a difficult situation often requiring a general anaesthetic to confirm the diagnosis. Computed tomography (CT) of the temporal bone will aid planning of the surgical approach and identify and any anatomical variants. There is no single correct approach to surgery and each case has to be assessed individually. Open mastoid surgery has the advantage that, hopefully, only one surgical procedure is required and any residual disease will be visible on examination. However, open cavities often require regular aural toilet, particularly in the early post-operative period, and the child may not tolerate this. The family may also find keeping the ear dry difficult to achieve, and swimming may be an important part of the child’s therapy. Undertaking a combined approach tympanoplasty would avoid these problems but may require multiple surgeries to exclude recurrence, particularly as audiometric testing may not be possible as an observation tool. The associated comorbidities of the child, however, may make multiple general anaesthetics unviable. Recent studies reveal that diffusion-weighted magnetic resonance imaging (MRI) of the temporal bones is becoming a useful tool for detecting residual and/or recurrent cholesteatoma. This technique is increasingly showing a
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Feeding, aspiration and gastro-oesophageal reflux Oromotor skills are often dysfunctional in those with neuromuscular pathologies.32–34 Children with cerebral palsy in particular may have difficulty coordinating swallowing with ventilation. The resultant ‘turn taking’, alternating between breathing and swallowing, can lead to aspiration of solids and fluids at mealtimes. 33 Gastro-oesophageal reflux is also more common, and often more severe, in children with cerebral palsy or other neuromuscular disorders. The reason for this is unknown but it is hypothesized that it may be due to increased intra-abdominal pressure caused by the spasticity of the abdominal muscles. Altered peristalsis combined with dysfunctional oesophageal sphincters can then result in aspiration of refluxed material. 33 Coughing and choking during feeding will draw attention to the possibility of aspiration, particularly when associated with recurrent lower respiratory tract infections, but often in children with comorbidities aspiration is silent. 33–35 While these children may struggle during mealtimes, they rarely show signs of aspirating. The consequences of aspiration are also varied, with some children tolerating recurrent episodes with no sequelae. More commonly, recurrent aspiration results in lower respiratory tract infections, which may ultimately lead to lung fibrosis in severe and unrecognized cases. Diagnosing silent aspirators is more difficult and they often go unrecognized until malnutrition or respiratory complications occur. 34 Treatment of aspiration ranges from positional/postural feeding positions and feed thickeners to tube feeding via a nasogastric tube or gastrostomy. Tube feeding has been associated with a higher mortality than in those fed orally but whether this is a result of the parenteral feeding rather than a reflection of the underlying comorbidities is not known.36,37 Tube-fed children are still at risk of reflux and aspiration even in those who have had a fundoplication at the time of gastrostomy.38 Children with a tracheostomy appear to have some protection from the complications of tube feeding and this may be due to the ability to undertake regular suctioning, application of oxygen and nebulizer and positive-pressure ventilation. 39
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Obstructive sleep apnoea (OSA) Children with craniofacial anomalies, Down syndrome and neuromuscular disorders are all at increased risk of obstructive sleep apnoea (OSA). With the multitude of other problems that this population of children may have, OSA is often overlooked or simply felt to be ‘normal for him/her’ by their parents/carers. Given the association with disrupted sleep, irritability and behavioural problems, failure to thrive and at the severe end of the spectrum pulmonary hypertension and right heart failure, it is vital that there is a high index of suspicion. Predisposing factors may relate to anatomical abnormalities such as midface hypoplasia in the craniofacial disorders and hypotonia of the pharyngeal musculature in the neuromuscular disorders. In some cases (e.g.Down syndrome) it may be a combination of both. Other documented associations are seizure disorders, gastro-oesophageal reflux, increased oral secretions and obesity.40,41 Management of OSA in children with complex problems should be undertaken in a multidisciplinary approach. Sleep disorder problems are common in this group of children and it is difficult to be assured of a correct diagnosis of OSA from clinical examination alone. Polysomnography is the gold standard for diagnosis and will aid in selection of children who are appropriate for surgical intervention. Management should be undertaken in a stepwise approach, eliminating simple factors like bacterial or allergic rhinitis as a first line. Although in the general paediatric population over 80% of cases of OSA will be effectively treated by adenotonsillectomy alone,42 the same cannot be said for those with additional comorbidities, particularly if there is a neuromuscular element. Most would agree that the aim is to avoid a tracheostomy where possible and first-line surgical management of removal of the tonsils and adenoids, even if only mildly enlarged, is the general approach. Whilet adenotonsillectomy may not completely resolve the obstructive symptoms, it may allow the consequent use of a nasopharyngeal airway or continuous positive airway pressure (CPAP) to maintain an adequate airway. The implications of anaesthesia in children with other comorbidities and the increased risks of complications following surgery need to be considered and any decision to proceed with surgery made within the multidisciplinary team. Parents should be counselled accordingly. Other surgical approaches that have been shown to improve OSA in some circumstances but are rarely helpful in routine practice include uvulopharyngopalatoplasty,43–45 mandibular advancement,46 tongue base reduction and hyoid suspension.44 Distraction osteogenesis may have a role in some children with craniofacial anomalies (see Chapter 19, Craniofacial anomalies). The management of OSA in children with complex problems should not be rushed but it is also imperative in some circumstances to act early, for example if there is concern about impending pulmonary hypertension. Some disorders, such as the mucopolysaccharidoses, are
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progressive and delaying intervention may result in a lost opportunity.
Laryngotracheal disease
5
Stridor in children with multiple comorbidities may be multifactorial and/or multilevel. It is often simply, but incorrectly, attributed to the underlying neuromuscular problems associated with the child’s diagnosis. Where possible, a flexible nasolaryngoscopy in the clinic will allow a dynamic assessment of the upper airway to the level of the vocal cords. There should be a high index of suspicion of multilevel disease, and a full airway assessment under general anaesthetic may be required. When underlying airway pathology is found it must be remembered that children with complex comorbidities, particularly neuromuscular, often do not respond as well to treatment as an otherwise well child would be expected to. Laryngomalacia is a good example of this. While most cases of laryngomalacia do not require surgical intervention, for those that do supraglottoplasty has a high success rate.47 Patients with comorbidities, however, tend to have a worse outcome.48 Children with cardiac abnormalities have been found to have a significantly higher failure rate following supraglottoplasty, which may be related to respiratory rate, an increased work of breathing or associated developmental problems.49 However, it is children with neurological comorbidities who do particularly badly with laryngomalacia, many requiring revision surgery49–51 and a significant proportion requiring tracheostomy.49, 52 This may be due to a difference in underlying pathophysiology in laryngomalacia associated with neuromuscular disorders. Rather than being due to overly pliable cartilage, the underlying problem is more likely due to laxity of the soft tissue of the supraglottis. This results in an excess of redundant soft tissue, which prolapses into the airway, and ultimately the underlying cartilage will also be involved. 53
SURGERY IN THE CHILD WITH SPECIAL NEEDS Undertaking surgery in a child with special needs requires careful consideration and planning. Multiple comorbidities may affect decision-making and sometimes a more conservative or aggressive approach is undertaken compared with what would be required in an otherwise well child. In some cases it may not be possible to undertake a full assessment of the child other than under a general anaesthetic. While it is certainly not a standard approach, in these cases decisions as to the surgical procedure may need to be made ‘on the table’. This has implications for consent and often requires the surgeon to speak to the family while the child is under anaesthetic. It is essential that there is a dedicated pathway for children admitted for surgery with special needs and that all involved specialties are aware of the impending surgery and admission.
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38 Section 1: Paediatrics
Hospital admission and surgery in children with complex medical problems or learning disabilities are often associated with high levels of anxiety in both the patient and parent. In order to minimize distress it is imperative that communication, planning with the family and pain management are undertaken on an individual basis. Children with special needs often have a very strict daily routine and alterations to this can cause significant distress. Trying to accommodate the child in a side room where possible will help avoid excessive noise disturbance and will make it easier for the parent to care for their child. 54 Where possible, having the child first on the theatre list will help reduce fasting time and the anxious wait for surgery. Surgical pre-assessments enable the child and parent/ carer to visit the ward and theatre complex prior to surgery and allow the family to familiarize themselves with the department. This may help decrease anxiety on the day of surgery and help highlight any potential problems prior to admission. Anaesthetics can be challenging but assessment by the anaesthetist prior to admission will help prepare for a smooth patient journey. Sedative premedication may help settle the child prior to the anaesthetic and may aid with cooperation. It may not be possible to insert cannulae until the child is anaesthetized and these may need to be removed as early as possible after the procedure. Pain management in children who are unable to express pain through the usual verbal or behavioural routes can be difficult, and standard approaches are often unhelpful. Parents often recognize specific signs when their child is in pain, such as change in vocalization, altered facial expression, change in usual posture and reduced responsiveness to stimuli. 55 These can often be very subtle findings that would be apparent only to the parent/carer who knows the child well. Health professionals need to work closely with the parents in assessing pain levels in order to be able to manage the child’s pain appropriately.
Many of these children require a ‘step up’ of services when surgical procedures are undertaken, such as a high dependency unit bed post-tonsillectomy in a child with OSA and spastic cerebral palsy. It is also important, however, to try to discharge them home as soon as it is safe to do so. This will allow them to be in a more familiar environment and to return to their usual routine. In some situations it is preferable to discharge before all the usual criteria have been met (e.g.passing urine, eating). 56
BEST CLINICAL PRACTICE ✓✓ Examination of a child with special needs can be difficult and it may be necessary to proceed to examination under general anaesthetic in order to gain a diagnosis. ✓✓ There is increasing evidence that children with additional disabilities can benefit greatly from cochlear implantation. ✓✓ Stridor in children with complex comorbidities may be multilevel and multifactorial. ✓✓ Obstructive sleep apnoea is often overlooked in children with complex comorbidities. Management should not be undertaken without careful consideration and planning, but some disorders are progressive and treatment needs to be undertaken without untimely delay.
KEY POINTS • The survival of preterm babies has dramatically increased • • • •
over recent years but the long-term morbidity has remained unchanged. Children with special needs require a more detailed evaluation which takes longer. Specialist clinics that bring together health professionals offer a great advantage to both the clinicians and the family. It is essential to ensure good communication with all the health professionals involved in the care of a child with special needs. Surgical outcomes are often less successful in the child with special needs than for other children.
REFERENCES 1.
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Field DJ, Dorling JS, Manktelow BN, Draper ES. Survival of extremely premature babies in a geographically defined population: prospective cohort study of 1994–9 compared with 2000-5. BMJ 2008; 336: 1221–3. Saigal S, Doyle LW. An overview of mortality and sequelae of preterm birth from infancy to adulthood. Lancet 2008; 371: 261–9. Royal College of Paediatrics and Child Health. Withholding or withdrawing life sustaining treatment in children: a framework for practice. 2nd ed. London: Royal College of Paediatrics and Child Health; 2004. Blackburn CM, Spencer NJ, Read JM. Prevalence of childhood disability and the characteristics and circumstances of disabled children in the UK: secondary analysis of the Family Resources Survey. BMC Pediatrics 2010; 10: 21.
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Goore Z, Mangione-Smith R, Elliott MN, et al. How much explanation is enough? A study of parent requests for information and physician responses. Ambul Pediatr 2001; 1(6): 326–32. Levetown M, American Academy of Pediatrics Committee on Bioethics. Communicating with children and families: from everyday interactions to skill in conveying distressing information. Pediatrics 2008; 121(5): 1441–60. Bluebond-Langner M. The private worlds of dying children. Princeton, NJ: Princeton University Press; 1978. Lonenz JM. The outcome of extreme prematurity. Semin Perinatol 2001; 25(5): 348–59. Colvin M, McGuire W, Fowlie PW. ABC of preterm birth: neurodevelopmental outcomes after preterm birth. BMJ 2004; 329: 1390–3.
10. Costeloe KL, Hennessy EM, Haider S, et al. Short term outcomes after extreme preterm birth in England: comparison of two birth cohorts in 1995 and 2006 (the EPICure studies). BMJ 2012; 345: e7976. http://www.bmj.com/content/345/bmj. e7976 11. Perrott S, Dodds L, Vincer M. Apopulation-based study of prognostic factors related to major disability in very preterm survivors. J Perinatol 2003; 23: 111–16. 12. Payot A, Barrington K. The quality of life of young children and infants with chronic medical problems: review of the literature. Curr Probl Pediatr Adolesc Health Care 2011; 41: 91–101. 13. Noyes J. Comparison of ventilatordependent child reports of health-related quality of life with parent reports and normative populations. J Adv Nurs 2007; 58(1): 1–10.
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5: THE CHILD WITH SPECIAL NEEDS 39 14. Eiser CB, Morse RB. The measurement of quality of life in children: past, present and future perspectives. J Dev Behav Pediatr 2001; 22(4): 248–56. 15. American Academy of Pediatrics. Task force on newborn and infant hearing. Newborn and infant hearing loss: detection and intervention. Pediatrics 1999; 103(2): 527–30. 16. Joint Committee on Infant Hearing. 1994 position statement. ASHA 1994; 36: 38–41. 17. Davis NM, Doyle LW, Ford GW, et al. Auditory function at 14 years of age of very-low-birthweight. Dev Med Child Neurol 2001; 43: 191–6. 18. Therien JM, Worwa CT, Mattia FR, de Regnier FA. Altered pathways for auditory discrimination and recognition memory in preterm infants. Dev Med Child Neurol 2004; 46: 816–24. 19. Marsh RR, Handler SD. Hearing impairment in ventilator-dependent infants and children. Int J Pediatr Otorhinolaryngol 1990; 20(3): 213–17. 20. Taylor HG, Minich NM, Klein N, HackM. Longitudinal outcomes of very low birth weight: neuropsychological findings. J Int Neuropsychol Soc 2004; 10: 149–63. 21. Kaga K, Shindo M, Tamai F, Tanaka Y. Changes in auditory behaviours of multiply handicapped children with deafness after hearing aid fitting. Acta Otolaryngol Suppl 2007; 127: 9–12. 22. Berrettini S, Forli F, Genovese E, et al. Cochlear implantation in deaf children with associated disabilities: challenges and outcomes. Int J Audiol 2008; 47(4): 199–208. 23. Waltzman SB, Scalchunes V, CohenNL. Performance of multiply handicapped children using cochlear implants. AmJOtol 2000; 21(3): 329–35. 24. Lee YM, Kim LS, Jeong SW, et al. Performance of children with mental retardation after cochlear implantation: speech perception, speech intelligibility, and language development. Acta Otolaryngol 2010; 130: 924–34. 25. Beer J, Harris MS, Kronenberger WG, etal. Auditory skills, language development, and adaptive behaviour of children with cochlear implants and additional disabilities. Int J Audiol 2012; 51: 491–8. 26. Hamzavi J, Baumgartner WF, EgelierlerB, et al. Follow up of cochlear implanted handicapped children. Int J Pediatr Otorhinolaryngol 2000; 56: 169–74. 27. Roberts JE, Rosenfeld RM, Zeisel SA. Otitis media and speech and language: a meta-analysis of prospective studies. Pediatrics 2004; 113: e238–48. 28. Wilks J, Maw R, Peters TJ, et al. Randomised controlled trial of early surgery versus watchful waiting for glue
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ear: the effect on behavioural problems in pre-school children. Clin Otolaryngol 2000; 25: 209–14. Bennett KE, Haggard MP, Silva PA, Stewart IA. Behaviour and developmental effect of otitis media with effusion in the teens. Arch Dis Child 2001; 85: 91–5. Dremmen MH, Hofman PA, Hof JR, etal. The diagnostic accuracy of non-echo planar diffusion-weighted imaging in the detection of residual and/or recurrent cholesteatoma of the temporal bone. Am JNeuroradiol 2012; 33(3): 439–44. Evlice A, Tarkan O, Kiroglu M, et al. Detection of recurrent and primary acquired cholesteatoma with echo-planar diffusion-weighted magnetic resonance imaging. JLaryngol Otol 2012; 126(7): 670–6. Casas MJ, Kenny DJ, McPherson KA. Swallowing/ventilation interactions during oral swallow in normal children and children with cerebral palsy. Dysphagia 1994; 9: 40–6. Seddon PC, Khan Y. Respiratory problems in children with neurological impairment. Arch Dis Child 2003; 88: 75–8. Mirrett PL, Riski JE, Glascott MA, Johnson V. Videofluoroscopic assessment of dysphagia in children with severe spastic cerebral palsy. Dysphagia 1994; 9: 174–9. Griggs CA, Jones PM, Lee RE. Videofluoroscopic investigation of feeding disorders in children with multiple handicap. Dev Med Child Neurol 1989; 31: 303–8. Kastner T, Criscione T, Walsh K. The role of tube feeding in the mortality of profoundly disabled people with severe mental retardation. Arch Pediatr Adolesc Med 1994; 148: 537–8. Kastner T. Association between gastrostomy and death: cause or effect? Am J Ment Retard 1992; 97: 351. Smith CD, Otherson HB, Gogan NJ, Walker JD. Nissen fundoplication in the treatment of children with profound neurologic disabililty: High risks and unmet goals. Ann Surg 1992; 215: 654–9. Strauss D, Kastner T, Ashwal S, White J. Tubefeeding and mortality in children with severe disabilities and mental retardation. Pediatrics 1997; 99(3): 358–62. Cooley WC, Graham JM. Down syndrome: An update and review for the primary paediatrician. Clin Pediatr (Phila) 1991; 30: 233–53. Strome M. Obstructive sleep apnoea in Down syndrome children: a surgical approach. Laryngoscope 1986; 96: 1340–2. Brietzke SE, Gallagher D. The effectiveness of tonsillectomy and adenoidectomy in the treatment of pediatric obstructive sleep apnea/hypopnea syndrome: a metaanalysis. Otolaryngol Head Neck Surg 2006; 134: 979–84.
43. Seid AB, Martin PJ, Pransky SM, KearnsDB. Surgical therapy of obstructive sleep apnea in children with severe mental insufficiency. Laryngoscope 1990; 100: 507–10. 44. Cohen SR, Lefaivre JF, Burstein FD, et al. Surgical treatment of obstructive sleep apnea in neurologically compromised patients. Plast Reconstr Surg 1997; 99: 638–4. 45. Kosko JR, Derkay CS. Uvulopalatopharyngoplasty: treatment of obstructive sleep apnea in neurologically impaired pediatric patients. Int J Pediatr Otorhinolaryngol 1995; 32: 241–6. 46. Preciado DA, Sidman JD, Sampson DE, Rimell FL. Mandibular distraction to relieve airway obstruction in children with cerebral palsy. Arch Otolaryngol Head Neck Surg 2004; 130: 741–5. 47. O’Donnell S, Murphy J, Bew S, KnightLC. Aryepiglottoplasty for laryngomalacia: results and recommendations following a case series of 84. Int J Pediatr Otorhinolaryngol 2007: 71(8): 1271–5. 48. Preciado D, Zazal G. A systematic review of supraglottoplasty outcomes. Arch Otolaryngol Head Neck Surg 2012; 138(8): 718–21. 49. Hoff SR, Schroeder JW, Rastatter JC, Holinger LD. Supraglottoplasty outcomes in relation to age and comorbid conditions. Int J Pediatr Otorhinolaryngol 2010; 74: 245–9. 50. Schroeder JW, Bhandarkar ND, HolingerLD. Synchronous airway lesions and outcomes in children with severe laryngomalacia requiring supraglottoplasty. Arch Otolaryngol Head Neck Surg 2009; 135(7): 647–51. 51. Kuo-Sheng L, Bo-Nien C, Cheng-Chien Y, Yu-Chun C. CO2 laser supraglottoplasty for severe laryngomalacia: A study of symptomatic improvement. Int J Pediatr Otorhinolaryngol 2007; 71: 889–95. 52. Fraga JC, Schopf L, Volker V, CananiS. Endoscopic supraglottoplasty in children with severe laryngomalacia with and without neurological impairment. JPediatr (Rio J) 2001; 77(5): 420–4. 53. Worley G, Witsell DL, Hulka GF. Laryngeal dystonia causing inspiratory stridor in children with cerebral palsy. Laryngoscope 2003; 113: 2192–5. 54. Brown FJ, Guvenir J. The experiences of children with learning disabilities, their carers and staff during a hospital admission. Br J Learn Disabil 2008; 37: 110–15. 55. Carter B. Dealing with uncertainty: parental assessment of pain in their children with profound special needs. J Adv Nurs 2002; 38(5): 449–57. 56. Short JA, Calder J. Anaesthesia for children with special needs, including autistic spectrum disorder. Contin Educ Anaesth Crit Care Pain 2013; 13(4): 107–12.
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6
CHAPTER
THE CHILD WITH A SYNDROME Thushitha Kunanandam and Haytham Kubba
Introduction.................................................................................... 41 Definitions...................................................................................... 41 General approach to the child with a syndrome............................... 42 Systematic approach to the child with a syndrome......................... 42
When to suspect there may be a syndrome.....................................43 Specific syndromes........................................................................43 References.....................................................................................45
SEARCH STRATEGY Data in this chapter may be updated by an OVID search using the keywords: Trisomy 21 (Down syndrome), Turner’s syndrome, 22q11 deletion (velocardiofacial syndrome and Di George sequence), mucopolysaccharidosis, CHARGE and Pierre Robin, each of which was cross referenced with search term such as otolaryngology, airway, otology, larynx and nose.
INTRODUCTION The subject of syndromes can be a confusing mess of eponyms, acronyms and gene deletions. In this chapter, we will try to get to grips with the terminology, what to do when faced with a child who is known to have a particular syndrome, when to suspect a syndrome that has not been diagnosed yet, and finally what the general otolaryngologist needs to know about some of the commoner syndromes in paediatric otolaryngology practice. Many of the syndromes will be covered in other chapters.
DEFINITIONS A syndrome is a well-characterized constellation of major and minor anomalies that occur together in a predictable fashion, and for which a single underlying cause is known or suspected. The syndrome is a descriptive term for the collection of clinical features and often carries the name of the person who first described it (such as Down syndrome) or a description of the clinical features themselves (often as an acronym, such as CHARGE, or a simple list, such as velocardiofacial syndrome) while the disease is a way to describe the same entity in terms of its underlying cause (such as trisomy 21, which is the cause of
Downsyndrome, or 22q11 deletion, which is the cause of velocardiofacial syndrome). A sequence occurs when a single developmental anomaly causes a chain of effects on nearby or related structures. For example, in the Pierre Robin sequence, the small mandible causes the tongue to fall back obstructing the pharynx (glossoptosis) and also to sit high in the oral cavity, preventing the palatal shelves from fusing, leading to a U-shaped cleft palate. These features are all directly related and can be considered as one. Thus, the Pierre Robin sequence may be found as one feature of Treacher Collins syndrome. Another example of a sequence would be an absent thymus leading to impaired T-cell immunity with recurrent ear infections (Di George sequence, which often occurs as a part of velocardiofacial syndrome). In an association, a number of clinical anomalies appear together more often than would be expected by chance alone but no underlying genetic cause has been identified. An example would be the VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheo-oesophageal fistula, renal anomalies and limb abnormalities). Once the genetic cause is known, the association becomes a syndrome. CHARGE is one such example, where what used to be known as CHARGE association is now more properly referred to as CHARGE syndrome since the cause has been identified as a mutation in the gene CHD7.1
41
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GENERAL APPROACH TO THE CHILD WITH A SYNDROME
SYSTEMATIC APPROACH TO THE CHILD WITH A SYNDROME
There are a few syndromes that occur commonly enough in otolaryngology practice that the otolaryngologist should probably know something about them. There are considerably more syndromes, many thousands in fact, that are so rare that the otolaryngologist may see them once in a lifetime. When faced with a syndrome you have never heard of, there is no shame in admitting the fact and no need to panic. Two minutes with any internet search engine will usually fill in most of the blanks. Amore detailed literature search can be done at leisure for selected complex patients if required. The best source of information, however, is usually the parents. For the rare syndromes they are usually the most experienced people in the room and you should not be afraid to use their expertise. In order to establish a good rapport with parents, it is not necessary to pretend to be the world’s greatest expert in some rare syndrome that you looked up on the internet two minutes before; it is very important, though, to handle the family with sensitivity and respect. They will often be frequent hospital attenders who are under the care of many specialists and are therefore very ‘medicalized’. They can be exquisitely sensitive to language so always remember that the child comes first and the syndrome second: you are dealing with ‘a child who has Down syndrome’, not ‘a Down’s kid’, and certainly not ‘a Down’s’. Thankfully, old-fashioned terms like ‘mongol’ are long gone. Parents can be very sensitive to any suggestion that their child is being treated less well than others because of their syndrome. A common cause of misunderstanding is in saying that a certain treatment ‘is not worthwhile’ because you think it is unlikely to work, which the parents hear as ‘because the child is not worth treating’. Ultimately, the syndrome is only ever of secondary importance. You are there to treat the child and to manage the same conditions that you always do. Whatever the syndrome, you are going to look at ear health and hearing, airway problems and recurrent infections, and you are going to be very careful with the cervical spine if the child is having an operation. A child can present to the ENT clinic in one of two ways. Many children with enter the clinic with an underlying diagnosis of a syndrome already established, likely to be common in those with a characteristic phenotype. There are, however, a group of children who will present through ENT clinics with what would be considered common presentations and where there is a ‘hidden syndrome’. In these cases the ENT surgeon is quite often an early opportunity to aid diagnosis. Naturally, this pathway can be more complicated and will also have to be handled incredibly sensitively. Common presentations to ENT clinics include ear infections, hearing concerns and airway issues. These three presentations are often very common in children with syndromes as much as with the otherwise typically developing population of children. Coupled with an index of suspicion and additional features, this can be the path to early diagnosis.
As some of the common ENT conditions can be associated with certain syndromes, this is a good basis upon which to assess and manage children with any syndrome. The approach can then be adapted to each specific syndrome and child. Systematic management mainly involves assessment of otological manifestations and airway manifestations.
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Otological manifestations A history of recurrent acute otitis media (AOM) can be common in children with syndromes. Of course, ear infections are extremely common in all children. About half of all children have had an episode of AOM before their first birthday, increasing to 80% by their third birthday. 2 Most are managed in the community without seeing an otolaryngologist. In the UK, specialist referral is usually only requested for those with recurrent episodes of infection. During the consultation, the question inevitably arises as to whether the repeated infections are due to some underlying cause. Parents very often suspect some kind of systemic immune problem and for most the answer is ‘no’. However, the otolaryngologist should be aware that among these many children with ear infections are a small number with specific syndromes that might not yet have been diagnosed. 2 In particular, a female child of short stature with a history of ear infections should make one alert to the possibility of Turner syndrome. As well as infective problems, there are several types of hearing problem noted in children with syndromes. It is important to recognize these issues early and give consideration to the management options. Children with syndromes may have learning difficulties and additional support needs and addressing any hearing difficulties early on will help to reduce any potential handicap. Audiological screening can be a useful means of identifying problems and intervening early, although testing in this population can have its own challenges. Conductive hearing loss can be common, particularly otitis media with effusion (OME). Although the management of this condition can mirror that in the typical childhood population, occasionally adjustments should be made for the underlying syndrome. For example, in children with Down syndrome, hearing aids are recommended in preference to ventilation tube insertion. However, in children with a cleft palate and a middle ear effusion, ventilation tube insertion is highly recommended. The high incidence of middle ear problems can lead to the development of cholesteatoma in these children and this should be kept in mind. Sensorineural hearing loss should also be diagnosed early and treated appropriately. Hearing amplification options should be fully considered for each case, including standard hearing aids through to cochlear implantation. Children with craniofacial syndromes may present
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some practical difficulties due to their head shape and/ or behaviour, for example with respect to the wearing of hearing aids. Soft band and bone-anchored hearing aids may be more suitable options. In terms of cochlear implantation, again the anatomy may make surgery more tricky and there are naturally additional anaesthetic considerations to deal with for many of these children. Both these factors require surgery of this nature to be performed in specialist implant centres in tertiary level paediatric hospitals. One should also remember to consider the cosmetic aspect under ‘otology’ management in terms of microtia. Again, these children should be managed in a multidisciplinary setting taking into account the hearing and cosmetic components. These settings should allow for an informed discussion on the merits of surgery in terms of auricular prostheses or auricular reconstruction.
Airway manifestations Airway management in children with syndromes can be exceptionally challenging. Craniofacial abnormalities in particular can lead to great anxiety regarding airway management when the children present to other services for elective or ‘routine’ surgery: the anaesthetist may have to deal with a difficult intubation scenario in addition to a potentially more complicated peri-operative and postoperative period. Airway manifestations can also present as neonatal emergencies at birth, such as in bilateral choanal atresia or severe micrognathia. In managing the airway, the level of obstruction should be considered with an awareness that this could be at the nasal level, nasopharynx, tongue base or at the level of the larynx/trachea/bronchi. Formal airway endoscopy (MLB) will allow for complete assessment of the level(s) of obstruction and exclude any other airway anomalies. Adenotonsillar surgery can often be undertaken to help alleviate obstruction at the naso- and oropharyngeal level. The degree of adenotonsillar hypertrophy is not always clearly related to the degree of obstruction and no doubt the situation is much more complex with neurological and muscular tone often confounding the situation. Preoperative assessment by means of sleep studies can be useful in assessing obstruction and certainly useful in guiding post-operative recovery. Nasopharyngeal airways can be extremely useful airway adjuncts. Their use is indicated where the pathology relates to tongue-base collapse and micro/retrognathia as, for example, seen in Pierre Robin sequence (PRS). Often there can be symptomatic improvement as the child grows and a nasopharyngeal airway is a successful temporizing measure. However, in some situations formal surgery is required in the form of mandibular distraction or midface advancement. Finally, tracheostomy may be required in some children with significant airway obstruction. The implications of a tracheostomy must be carefully considered for the child and the family. The procedure itself may also be more complex due to unusual airway anatomy, such as a tracheal sleeve.
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WHEN TO SUSPECT THERE MAY BE A SYNDROME
6
Among the many children presenting on a daily basis to the otolaryngology clinic, there are a few whose symptoms are due to an underlying genetic condition. In most cases the underlying syndrome is obvious and has already been diagnosed, such as the child with Down syndrome. There are some syndromes, however, whose features may be subtler and easily missed. For some, the first presenting features may be in the ears, nose or throat and the otolaryngologist may be the first doctor to see the child and therefore the first to have the opportunity to spot the underlying diagnosis. This is an important opportunity to make potentially a huge difference to the child and family as making the correct diagnosis can affect not only the management of the otolaryngological condition but also of many other body systems. The commonest clinical situation where this chance to make an early diagnosis occurs is in the child with recurrent AOM. It is very worthwhile looking out for a few underlying syndromes that might not have been diagnosed yet, specifically common variable immunodeficiency, Turner syndrome, mucopolysaccharoidosis and 22q11 deletion. The latter three have characteristic facies (which are often subtle) and mucopolysaccharoidosis and Turner also have short stature as a feature. All are discussed further below. Immunodeficiency is discussed in Chapter7, Management of the immunodeficient child. It is important that the ENT surgeon has knowledge of some of the less common genetic disorders in order that appropriate and timely referral for specialist management can be made.
SPECIFIC SYNDROMES Down syndrome Down syndrome is a common and easily recognizable disorder with familiar phenotype and genotype (trisomy of all or a critical portion of chromosome 21). This syndrome easily demonstrates the ear, nose and throat problems that can need to be considered in managing a child with any syndrome.3 The most common ENT reasons for referral in children with Down syndrome are OME, sleep-disordered breathing and laryngomalacia. The possibility of atlantoaxial subluxation in this group of children should mean that any surgical procedure involves very careful handling of the neck. Immunological aspects of the disease can lead to ventilator tube otorrhoea, persistent rhinorrhoea and recurrent upper respiratory tract infections. Endotracheal intubation can be difficult and often the child will need a smaller diameter ET tube than her age would suggest. There is an increased mortality in this group of children (×6 throughout infancy and ×17 until age 9 years) compared to age-matched controls.4
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Otological aspects of the disease include the following: • persistent otitis media with effusion – hearing aids
• • •
• •
should normally be offered to children with Down syndrome who have hearing loss due to OME5 narrow and waxy ear canals – ventilator tube otorrhoea and early extrusion can be more common conductive hearing loss secondary to ossicular anomalies sensorineural hearing loss with increased labyrinthine dysplasia – inner ear dysplasia is common in children with Down syndrome increased incidence of cholesteatoma anatomical abnormalities of the facial nerve – tympanomastoid surgery can be especially challenging.
Hearing screening with behavioural testing throughout early childhood should be carried out to establish nearnormal hearing with the use of amplification or ventilation tube insertion. Cholesteatoma should be suspected in continuously discharging ears. Airway aspects of the disease include: • obstructive sleep apnoea – relative adenotonsillar
hypertrophy, upper airway obstruction as part of craniofacial condition including hypoplasia of pharynx and maxillary arch with nasal obstruction, sometimes generalized muscle hypotonia (‘floppy baby’) • tracheobronchomalacia – increased incidence in this population and there may be a need for ventilation with/without tracheostomy and continuous positive airway pressure (CPAP) • synchronous airway anomalies can be seen including a tracheal bronchus, subglottic stenosis and tracheoesophageal fistula. Annual screening for OSA until age 3–5years is recommended. It is important to realize that, even after adenotonsillar surgery, there is a greater than 50% finding of residual OSA that will likely need medical intervention (e.g. CPAP). These children are unsuitable for day-case adenotonsillectomy and they will often require highdependency care post-operatively.6,7
Turner syndrome Turner syndrome (TS) is characterized by the complete or partial loss of one X chromosome. TS is surprisingly common, affecting 1 in 2000 females, although perhaps only half have been formally diagnosed and are known to medical services. Some are diagnosed at birth due to characteristic features such as oedematous feet, while others are diagnosed in adolescence due to growth failure and delayed puberty. The vast majority of girls with TS present to otolaryngologists in their early years with recurrent AOM and OME, and for many this occurs long before the diagnosis of TS has been made.8 Progressive mid-to-high tone sensorineural hearing loss is common in school years and early adulthood. Cholesteatoma is also not infrequent.9 Early diagnosis can make a huge
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difference to these patients as it enables the detection of heart anomalies, which are commonly present, as well as growth hormone treatment for short stature. Suspicion is key: consider TS in any girl with ear problems and short stature, and refer on to an endocrinologist if concerned. Ifshe is the shortest girl in her school class, think, ‘could this be Turner syndrome?’
22q11 deletion syndrome 22q11 deletion syndrome encompasses the clinical conditions previously termed velocardiofacial syndrome and Di George syndrome which are now known to be different manifestations of the same genetic defect. A variety of clinical features can occur but not in every child.10 Common features include submucous cleft palate, congenital heart anomalies, absent thymus with impairment of T-cell immunity (Di George sequence) and characteristic facial features. The ENT clinical features result from abnormal development of structures derived from the third and fourth pharyngeal pouches. The first presentation to medical services may well be with recurrent episodes of AOM due to the impaired T-cell immunity. Another presentation to the otolaryngologist is with a congenital glottic web which is almost always diagnostic of 22q11 deletion (see Chapter 30, Congenital disorders of the larynx, trachea and bronchi).11, 12 Again, the phenotypic profile is highly variable and awareness and suspicion are key. If there is suspicion of 22q11, full ENT assessment including laryngoscopy should be performed and referral to a geneticist and cardiologist initiated.13
Mucopolysaccharoidoses The mucopolysaccharoidoses (MPS) comprise a group of conditions that result from the deficiency of lysosomal enzymes causing the accumulation of glycosamino- glycans in tissues. Head and neck structures are frequently involved early and the otolaryngologist may see children before the onset of systemic disease.14 Features commonly include recurrent otitis media, mixed hearing loss, upper airway obstruction +/− obstructive sleep apnoea and coarse facial features. Due to the non-specific clinical features, diagnosis is frequently delayed but early diagnosis is essential, particularly in Hunter syndrome, where enzyme replacement therapy is now available.15 MPS is also associated with intubation difficulties and may pose a significant anaesthetic risk. OSA is extremely common, with a prevalence of up to 90%, and patients may benefit from adenotonsillectomy.16 Suspicion of MPS should prompt specialist referral, and confirmation is with urinary glycosaminoglycan measurement and enzyme assays.14
CHARGE syndrome CHARGE syndrome is an autosomal dominant genetic disorder typically caused by mutations in the chromodomain helicase DNA-binding protein-7 (CHD7) gene.1,17,18 The acronym ‘CHARGE’ denotes the non-random
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association of coloboma, heart anomalies, choanal atresia, retardation of growth and development, and genital and ear anomalies, which are frequently present in various combinations and to varying degrees in individuals with CHARGE syndrome.19 Neonatal presentation: small for gestational age dysmorphic features respiratory distress/cyanosis swallowing/feeding difficulty failed newborn hearing screen inability to pass nasogastric tube.
• • • • • •
Choanal atresia is membranous or bony, and bilateral in over 50% of cases, usually presenting in the newborn period with a cyclical pattern of respiratory distress. This can be a threat to life because infants cannot establish mouth breathing. Of all features of CHARGE syndrome, choanal atresia (when bilateral) is the most easily ascertained and requires early surgical correction. When associated with other anomalies (e.g.cyanotic heart
disease, tracheoesophageal fistula and/or atresia), prognosis is poor. Unilateral atresia may present as persistent nasal discharge in early childhood. External ear malformations are seen in 90–100% of patients. Ears may be small, simple, low-set, and/or cupshaped; a protruding helix may be unravelled. Vestibular or cochlear defect leads to sensorineural deafness. Middle ear problems cause conductive hearing loss and are commonly due to ossicular malformations, stapedius tendon abnormality, or serous effusion. CT scan of the temporal bone demonstrates partial or complete semicircular canal hypoplasia.
6
Syndromes discussed elsewhere Syndromic craniosynostosis (Pfeiffer, Apert, Crouzon and Saethre–Chotzen syndromes) are discussed in Chapter 19, Craniofacial surgery. Syndromes causing deafness (such as Pendred, Waardenburg and Usher, as well as many others) are discussed in Chapter 10, Management of the hearing impaired child.
KEY POINTS • Far too many syndromes have been described for anyone to be familiar with them all, but a few common ones should be well-known to any paediatric otolaryngologist. • Be careful with the words you use in front of parents as they are often very sensitive to anything that sounds like a lack of respect for the child. • Regardless of the nature of the syndrome, the role of the otolaryngologist will most often be to address
issues of hearing, recurrent infections and airway obstruction,whilst always being careful with the cervical spine. • Some children presenting with common otolaryngological problems may have an underlying syndrome that has not yet been diagnosed. Be alert to any features that may allow you to make the diagnosis.
REFERENCES 1.
Pampal A. CHARGE: an association or a syndrome? Int J Pediatr Otorhinolaryngol 2010; 74(7): 719–22. 2. Wilson NW, Hogan MB. Otitis media as a presenting complaint in childhood immunodeficiency diseases. Curr Allergy Asthma Rep 2008; 8: 519–24. 3. Mitchell RB, Call E, Kelly J. Ear, nose and throat disorders in children with Down syndrome. Laryngoscope 2003; 113: 259–63. 4. Baird PA, Sadovnick AD. Causes of death to age 30 in Down syndrome. Am J Hum Genet 1988; 43: 239–48. 5. NICE. Otitis media with effusion in under 12s: surgery. Clinical guideline [CG60]. 2008. Available from: https://www.nice. org.uk/guidance/cg60. 6. Robb PJ, Bew S, Kubba H, et al. Tonsillectomy and adenoidectomy in
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7.
8.
9.
children with sleep-related breathing disorders: consensus statement of a UK multidisciplinary working party. Ann R Coll Surg Engl 2009; 91(5): 371–3. Shott SR, Amin R, Chini B, et al. Obstructive sleep apnea – Should all children with Down syndrome be tested? Arch Otolaryngol Head Neck Surg 2006; 132(4): 432–6. Makishima T, King K, Brewer CC, et al. Otolaryngologic markers for the early diagnosis of Turner syndrome. Int J Pedatr Otorhinolaryngol 2009; 73: 1564–7. Lim DBN, Gault EJ, Kubba H, et al. Cholesteatoma has a high prevalence in Turner syndrome high lighting the need for earlier diagnosis and the potential benefits of otoscopy training for paediatricians. Acta Paediatrica 2014; 103(7): e282–7.
10. Ford LC, Sulprizio SL, Rasgon BM. Otolaryngological manifestations of velocardiofacial syndrome: a retrospective review of 35 patients. Laryngoscope 2000; 110: 362–7. 11. Leopold C, De Barros A, Cellier C, et al. Laryngeal abnormalities are frequent in the 22q11 deletion syndrome. Int J Pediatr Otorhinolaryngol 2012; 76: 36–40. 12. Miyamoto R, Cotton RT, Rope AF, et al. Association of anteriorglottic webs with velocardiofacial syndrome (chromosome22q11.2 deletion). Otolaryng Head Neck 2004; 130: 415–17. 13. McElhinney DB, Cotton RT, RopeAF, et al. Chromosomal and cardiovascular anomalies associated with congenital laryngeal web. Int J Pediatr Otorhinolaryngol 2002; 66: 23–7.
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46 Section 1: Paediatrics 14. Wold SM, Derkay CS, Darrow DH, ProudV. Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol 2010; 74: 27–31. 15. Cohn GM, Morin I, Whiteman D. Development of a mnemonic screening tool for identifying subjects with Hunter syndrome. Eu JPediatr 2013; 172: 965–70.
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16. Santos S, López L, González L, DomínguezMJ. Hearing loss and airway problems in children with mucopolysaccharidoses. Acta Otorrinolaringol Esp 2011; 62: 411–17. 17. Vissers LE, van Ravenswaaij CM, Admiraal R, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 2004; 36(9): 955–7.
18. Zentner GE, Layman WS, Martin DM, Scacheri PC. Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. Am J Med Genet A 2010; 152A(3): 674–86. 19. Pagon RA, Graham JM Jr, Zonana J, YongSL. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. JPediatr 1981; 99(2): 223–7.
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7
CHAPTER
MANAGEMENT OF THE IMMUNODEFICIENT CHILD Fiona Shackley
Introduction.................................................................................... 47 Primary immunodeficiency............................................................. 47 Treatment of antibody deficiency ...................................................49 Immune deficiency in other paediatric syndromes ..........................49
Investigations for PID......................................................................50 Impact and use of immunizations...................................................50 HIV/acquired immune deficiency.....................................................50 References..................................................................................... 52
SEARCH STRATEGY Data in this chapter may be updated by a Medline search using the keywords: immunodeficiency, otitis media, sinusitis, mastoiditis, otolaryngological disease, ENT, nasopharyngeal colonization, hypogammaglobulinaemia and HIV.
INTRODUCTION The infant nasopharynx becomes colonized with microorganisms from shortly after birth.1 There is a consequent constant balance of host, microbial and environmental factors that allow individuals to be colonized with potentially infectious organisms or allow microorganisms to breach host defence to cause local or systemic disease. 2 In the young child with an immature immune system, recurrent respiratory tract infection, particularly otitis media, is common. Studies carried out prior to the widespread introduction of pneumococcal conjugate vaccines indicate that 83% of children will have suffered one episode of otitis media by 3years of age and 46% will have had at least three episodes. 3 Recurrent infections of the upper respiratory tract are also common in children with primary immunodeficiency (PID). ENT specialists may be the first clinicians to see a child with an immune defect and have a key role in identifying these children. This is also the case for children with HIV infection who may present to an ENT specialist before their diagnosis has been confirmed. Early diagnosis and commencement of treatment for both primary and acquired immune deficiency improves long-term outcome.4, 5 Unfortunately, identifying the children who need further investigation can be difficult, although other features including failure to thrive, absence of or excessive lymphadenopathy, dysmorphic features and skin problems should raise concerns.6 Some children with minor immune defects may only become symptomatic because of other associated
features including allergic tendency, GOR and Eustachian tube dysfunction.7,8
PRIMARY IMMUNODEFICIENCY Children born with a reduced immune system, or the tendency to develop a reduced immune system over time, are classified as having PID.9 Ascertainment of the true incidence of these conditions is difficult. An estimate from a US telephone survey indicated a prevalence of PID in the US of 1 : 2000.10 Over 60% of these immune problems relate to antibody production.10, 11 Antibody plays an essential role in the process of opsinophagocytosis,12 destroying common organisms in ear and sinus disease including Streptococcus pneumoniae, non-typable Haemophilus influenzae and Moraxella catarrhalis. These are clearly children or adults who may have seen an otolaryngologist before the diagnosis is considered.
Identifying children with immune deficiency Several guidelines are available to help clinicians identify children with immune deficiency. The Jeffrey Modell ‘10 warning signs of infection’13 indicate that immunodeficiency should be considered in any child with more than four new ear infections in one year; more than two episodes of severe sinusitis pneumonia, infections that do 47
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not respond to routine antibiotics, failure to thrive or a family history of immunodeficiency. Consequent studies using these risk indicators have shown that, particularly for antibody deficiency, it can be very difficult to differentiate the immunologically normal and abnormal child in the absence of features such as poor growth or family history.14 The current ESID guidelines, while not giving a threshold for ENT infections that might indicate the need to investigate, do give clear pathways for appropriate investigations.6
Transient hypogammaglobulinaemia of infancy All children rely on transplacental transfer of maternal antibodies during the last trimester of pregnancy, which helps protect them over the first 6months of life while the infant’s antibody production becomes adequate. In some children, there appears to be a delay in this maturational process resulting in low IgG, which can be associated with a reduced IgA and IgM. Transient hypogammaglobulinaemia of infancy (THI) is a diagnosis of exclusion and a definitive diagnosis is only possible over time when the problem resolves. In paediatric series this is the commonest form of symptomatic antibody deficiency.15, 16 The pathogenic process behind THI is not understood. A small number of children continue to have problems with infections and persist in having low antibody levels or fail to make adequate response to their routine immunizations. The majority are reported to improve by the age of 4years although in some children the IgG remains low into late childhood.16,17 Hypogammaglobulinaemia is common in preterm infants who may not be symptomatic although routine prophylactic immunoglobulin is not recommended.18 Also, high levels of cord blood pneumococcal-specific antibodies did not seem to provide sufficient protection for Aboriginal infants who are known to be at increased risk of early otitis media illustrating the fact that low antibody levels alone may not be the sole explanation for recurrent ENT infections in early infancy.19 If low immunoglobulin levels are identified, it is important to be sure that there is not a more significant underlying immune defect present.6
IgA deficiency/ IgG subclass deficiency and specific antibody deficiency IgA deficiency is present in around 1 in 600 blood donors. 20 Most individuals with IgA deficiency are completely well and, in many children, the deficiency is transient. Some people do suffer more frequent infections including ear and sinus disease and occasionally develop progressive antibody deficiency. 21 This is more likely if they have an associated IgG subclass deficiency, particularly IgG2, or specific antibody deficiency (SAD). Activity against pneumococcal capsular polysaccharide appears best mediated by the IgG2 subclass which young children
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may be poor at generating. IgG2 deficiency is commoner in some series of children with recurrent otitis media. 22 However, asymptomatic IgG2 deficiency is also well documented. 23 Quality of antibody production can be assessed by looking at protective levels of antibody following immunizations. A group of individuals has been described who have reduced ability to make antibodies to polysaccharides, a key component of thecapsular wall in some organisms. Poor polysaccharide responses are normal in children under 2years but are also seen in some older children and adults where it will be labelled as SAD. While definitions of this condition are available, 24–26 the introduction of routine pneumococcal conjugate vaccine immunizations and lack of access to standardized assays to assess response adds controversy to diagnosis of this condition. 27,28
Common variable immune deficiency In combined adult and paediatric data common variable immune deficiency (CVID) is the commonest symptomatic antibody deficiency29 defined by a reduced IgG (beyond the age of 4years), a history of infections and often inadequate response to immunizations.9 A proportion of children with CVID may initially have been labelled as THI but continue to be symptomatic and have low IgG levels in later chidlhood. In a recent paediatric series, 88% of children with CVID had recurrent respiratory tract infections, 78% otitis media and 78% sinusitis. 30 Around 10% of individuals with CVID31 have an identifiable gene defect but the cause for the majority of CVID remains unclear. There are two peaks of onset, in mid-childhood and early adulthood. Delay from symptoms to diagnosis and treatment is usually around 4–5 years. 30, 32 These are clearly the type of children who may have seen an otolanyngologist before the diagnosis is considered.
X-linked agammaglobulinaemia A small group of children, predominantly boys, who present with severe infection and a paucity of lymphoid tissue will have X-linked agammaglobulinaemia. Due to defects in the BTK gene, affected boys fail to manufacture mature B-cells and consequently make no or very little IgG. While some of these children suffer serious life-threatening infections, recurrent otitis is the commonest infection identified prior to diagnosis. 33 In a small number of patients, deletions in the terminal portion of the BTK gene may extend to involve the deafness dystonia protein gene resulting in sensorineural deafness. 34 These children are differentiated from THI and CVID patients initially on the basis of extremely low IgG, IgA and IgM or absent B-cell numbers. Consequent protein and molecular studies confirm a BTK defect in most children. In a small number of individuals there are autosomal recessive conditions that result in a similar phenotypes affecting both boys and girls. 35 Boys with X-linked agammaglobulinaemia usually present at 6–18 months of age but diagnosis may be delayed till
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later in childhood in 10–15%, unfortunately sometimes after children have already sustained lung and ear damage. Bruton’s use of regular immunoglobulin infusions was the start of what is a key treatment for children with antibody deficiency. 36
Other conditions that may mimic antibody deficiency X-linked hyper IgM syndrome may present like CVID with absent or low IgG and IgA but normal or elevated IgM.37 The defect in CD40 ligand results in T- and B-cell functional problems. Hyper IgE syndrome38 and DOK 8 deficiency39 are both associated with eczematous skin problems, raised IgE and recurrent infections, again particularly otitis media. Wiscott–Aldrich syndrome, due to mutations in the WASP cytoskeletal protein, also often presents with severe eczema, thrombocytopaenia and ear infections.40 These children are at increased risk of opportunistic infection and may require bone marrow transplant in addition to immunoglobulin replacement.
TREATMENT OF ANTIBODY DEFICIENCY Children with antibody deficiency, THI and SAD with mild infections may be managed with prophylactic antibiotics including amoxicillin, azithromycin and cotrimoxazole.41,42 There is very little trial evidence to support this but practice has been based on studies from otitis media.43 For more severe immunodeficiency, and certainly X-linked agammaglobulinaemia, or in children where antibiotic prophylaxis alone does not control infections, immunoglobulin replacement can be given either as an intravenous infusions 0.4–0.6 g/kg every 3–4weeks or a weekly subcutaneous infusion which can be easily given at home and is well tolerated by children. There is good evidence that adequate immunoglobulin replacement improves longterm outcome.44,45
Phagocyte abnormalities Due to the key role of neutrophils in phagocytosis, ENT infections are also frequently seen in children with reduced neutrophil numbers and function. In infancy, neutropaenia may be consequent to a number of known molecular defects but is also seen in conjunction with some metabolic conditions including glycogen storage disease. These children can be at risk of life-threatening sepsis but otitis media, oral ulceration and abscesses are also common.46, 47 The commonest cause of neutropaenia in our practice in young children is benign autoimmune neutropaenia or alloimmune neutropaenia. Recurrent otitis media can be a frequent problem in these children and severe mastoiditis or adenitis may be a presenting feature.48 A blood count will identify children with persistent neutropaenia who can then have
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consequent genetic or autoimmune studies to define the cause. Congenital neutropaenia usually requires treatment with granulocyte-colony stimulating factor (G-CSF) to increase neutrophil numbers but may require bone marrow transplant. Autoimmune neutropaenias can often be managed with antibiotic prophylaxis and prompt treatment of infections.47 Defects in the neutrophil oxidative burst pathway are well described, resulting in chronic granulomatous disease. These children can develop deep-seated infections, sometimes with unusual organisms including Serratia species, Burgholdheria cepacia and fungal infections.49 These may cause severe adenitis, mastoiditis or sinusitis. 50 This should always be considered in children with particularly severe disease who may present to ENT teams for acute surgical intervention. Unlike with many other immune defects, these children may not have problems early in infancy and can present in latechildhood with an unusual infection. Management is with long-term prophylactic antibiotics and antifungals and, with an appropriate donor, bone marrow transplant has been very successful. Most cases are X-linked but AR forms also occur. Children with defects in leucocyte adhesion molecules may also present in infancy with severe otitis and mastoiditis. 51 One of the key laboratory findings that may alert an ENT surgeon to this defect is the presence of a very high WBC. Consequent questioning may reveal a history of delayed cord separation.
7
Other innate immune system defects Deficiencies in the compliment system are more likely to present with septicaemia than recurrent ear or sinus infections. 52 However, deficiency in mannose-binding lectin (MBL), which facilitates complement activation, is relatively common in the population53 and may, particularly in conjunction with other immune system abnormalities or Eustachian tube dysfunction, contribute to recurrent ear and sinusitis infections. 54, 55 No specific treatment options are available apart from prompt antibiotic treatment.
IMMUNE DEFICIENCY IN OTHER PAEDIATRIC SYNDROMES Di George or velocardiofacial syndrome, 56 CHARGE (coloboma, heart defects, atresia choanae, retardation of growth, genital anomalies and ear abnormalities)57 and Down syndrome58 are all linked to an increased risk of ear infections through facial structure and palatal abnormalities but are also at risk of immune deficiency which, in the case of 22q deletions, may be quite severe. Clinicians should have a lower threshold for considering immune deficiency in children with dysmorphic syndromes. Children with developmental delay and associated microcephaly may have a defect in DNA repair or chromosome stability. Immune deficiency is a recognized complication of many
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50 Section 1: Paediatrics
of these conditions, 59 the most notable being ataxia telangiectasia where recurrent otitis media is a well-recognized common complication.60
Autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome (ALPS) is an uncommon group of conditions associated with defects in the apoptosis pathway. The degree of immune deficiency associated with this condition is variable but children can present in infancy and early childhood with persistent, sometimes, massive cervical adenopathy.61
MHC Class 1 deficiency Rarely older children may present with sinusitis, nasal polyposis and bronchiectasis due to MHC Class 1 deficiency. 62
Severe combined immune deficiency Children with these severe immune defects will not usually present to the ENT team at diagnosis, as the majority will suffer severe generalized infections in early life.
INVESTIGATIONS FOR PID The European Society for Immunodeficiencies (ESID) guidelines provide a helpful pathway indicating initial screening test for children with recurrent ENT infections should include FBC, and measurements of IgG, IgA and IgM.6, 9 Perisistent or recurrent neutropaenia may indicate a congenital or autoimmune neutropaenia requiring further genetic and autoantibody testing. If low immunoglobulins are identified, lymphocyte subsets should be carried out particularly to ensure the child has adequate B-cell numbers. Responses to routine immunizations should also be evaluated including Hib, tetanus and Pneumococcus. For children who have had pneumococcal conjugate vaccine, measurement of pneumococcal serotypes if available should be carried out rather than total pneumococcal antibodies. Children with low vaccine responses should be offered booster immunizations and the response reassessed in 4–6 weeks. Looking at children’s response to Pneumovax is recommended by some guidelines but lack of access to standardized tests to assess the response can limit the clinical utility of this. If symptoms are persistent, IgG subclasses, MBL and complement studies CH50 APCH50 are recommended. Children with other features to suggest a more fundamental immune defect including failure to thrive, family history, severe eczema, abnormal lymphadenopathy or dysmorphic features should be discussed with the local immunology service as further investigation is likely to be indicated. In the context of features suggesting SCID, including lymphopaenia, the local paediatric team should be urgently alerted.
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IMPACT AND USE OF IMMUNIZATIONS The introduction of routine infant immunization with pneumococcal conjugate vaccines in many developed countries since 2000 has had a significant impact on invasive pneumococcal disease 63 but has also reduced otitis media64 and the need for surgical intervention with tympanostomy tubes.65 There is evidence that pneumococcal strains present in the older pneumococcal polysaccharide vaccine (PPV) but not current conjugate vaccines are now causing more otitis media66 but there is no evidence unfortunately that giving additional doses of either conjugate or PPV to children with recurrent otitis media reduces infections.67,68 There is also some concern that repeated doses of PPV may result in blunting of the immune response. 28
HIV/ACQUIRED IMMUNE DEFICIENCY HIV is estimated to affect 3.4 million children worldwide.69 Rates of new infections in children have dramatically reduced worldwide through treatment interventions that prevent mother-to-child transmission. The majority of children with HIV acquire infection from their mothers before birth, during delivery or during breastfeeding. Without control of maternal infections with highly active antiretroviral therapy (HAART), and infant prophylaxis, mother-to-child transmission was around 25%.70 With appropriate maternal and infant medication, advice against breastfeeding or control of maternal virus while breastfeeding and, where indicated, Caesarean section, it is anticipated that transmission can be reduced to less than 2% worldwide and is already less than 1% in some developed countries.71
ENT complications Many children become symptomatic over the first 2years of life but others may be well into late adolescence.72 In this group of children parotid enlargement may be a common feature and may be the initial presentation to ENT services. Otitis media and chronic suppurative complications are common, with a trend to increasing ear infections over time as the child’s immune system fails.73 Conductive hearing loss as a consequence of ear infections can have significant impact on a child’s well-being and development. In addition, HIV-infected children appear to be at increased risk of sensorineural deafness, tinnitus and vestibular symptoms, highlighting the importance of audiological assessment in all HIV-infected children.74 Access to HAART has had a significant impact on children’s survival and may have led to a decrease in the number of children with ENT manifestations of HIV.75, 76 HIV-infected children will still, however, suffer from ENT-related problems and potentially require surgical intervention including tympanostomy tubes
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andmyringoplasty. Infectious cervical lymphadenitis with common and opportunistic organisms including tuberculosis and atypical mycobacteria may also present neck swelling to ENT specialists.
Who and how to test UK national guidelines for HIV testing list recurrent and troublesome ear infections and chronic parotitis as clinical indicators for HIV testing in children.77 While routine testing of all children with recurrent ear infections may not be indicated, HIV testing in children with chronic parotitis is recommended irrespective of there being no other apparent risk factors. HIV should also be considered if a child is found to have significantly raised immunoglobulins when being investigated for a PID.6 Unexplained lymphadenopathy is an indication in adult but not paediatric UK guidance but is a well-described feature, though the clinical appearance may be difficult to differentiate in infected and uninfected children.78 Any trained heath professional should be able to obtain consent for HIV testing.77 However, HIV testing a child adds the additional complexity of the implications the test TABLE 7.1 ENT features and staging (adapted from PENTA)80 Clinical stage WHO or CDC ENT features in children Mildly symptomatic WHO 1 and 2; CDC A
Recurrent otitis media +/− chronic otorrhoea Recurrent sinusitis Chronic parotitis
Moderate to severe symptoms WHO 3 and 4; CDC B and C
Oral candidiasis Oesophageal candidiasis Extrapulmonary TB Atypical mycobacterial disease Necrotizing gingivitis Recurrent oral HSV Oral hairy leukoplakia Lymphoma/Kaposi sarcoma
result may have for the family, particularly if the parents themselves are unaware of their own underlying diagnosis. Usually local paediatric or infectious disease colleagues are happy to be involved. The significant stigma, guilt and concern around disclosure can make it extremely difficult for parents to agree to testing. Parental refusal to have HIV testing may then become a child protection issue requiring involvement from social care and the court system.79 Wherever possible, however, healthcare staff should work with families to encourage them to have testing carried out and engage with ongoing clinical input voluntarily. Initial screening for children over 18months of age is by HIV serology and p24Ag, which should then be repeated and include a DNA PCR and RNA viral load. Children under 18 months of age require testing using DNA or RNA PCR.80 A CD4 count may be arranged with the confirmatory testing but CD4 count alone should not be used as a surrogate for HIV testing in families who will not consent to testing.
7
When to treat A variety of guidelines is available to indicate when it is appropriate to commence children on antiretroviral treatment based on a combination of symptoms and CD4 count. A number of common ENT presentations are seen in the relatively well HIV-infected child who may not yet need to be on medication unless associated with a low CD4 count. Other conditions that may present to ENT are key indicators themselves of the need to start treatment (Tables7.1 and 7.2). Families need significant support with compliance with HAART. Most children show rapid improvement in their CD4 count and immune reconstitution over the first few months of treatment. However, for some children the residual damage caused by recurrent ear and chest infections may mean they continue to have problems that need ongoing input from the ENT team.
TABLE 7.2 Age-specific thresholds to start treatment (adapted from PENTA)80 Under 12months 1–3years
3–5years
Over 5years
Clinical stage
Start all
CDC B or C WHO 3 and 4
CDC B or C WHO 3 and 4
CDC B or C WHO 3 and 4
CD4 count
Start all
CD4 30)* Prepregnancy diabetes* First trimester heavy alcohol consumption Medications (anticonvulsants, folate antagonists, retinoic acid)* White non-Hispanic race* Sex* *Also associated with CPO. Data from Watkins et al. 2014.9
have non-cleft velopharyngeal dysfunction due to a deep post-nasal space secondary to a wide skull base angle. Any patient with a palatal defect, and any other manifestation of 22q11 (cardiac malformation, neurodevelopmental delay, immunodeficiency) should be screened, as prevalence can be as high as 40%. Non-syndromic clefting is multifactorial and is influenced by both genetic and environmental factors. Nonsyndromic clefting may have a known or unknown cause. Variants of the IRF6 gene (interferon regulatory factor 6) can cause a Mendelian type inheritance, notably Van der Woude syndrome, but variants of IRF6 have also been implicated in non-syndromic orofacial clefts.7 Genome-wide association studies have provided insights into the genetic background of non-syndromic CL±P and contributing genes include aberrations in TGF-b3, NAT 1TBX22, MSX1 and FGFR.9–12 Environmental factors which contribute to facial clefting are varied, and many are still under evaluation (Box 18.2). Alcohol consumption, particularly in the first trimester, is known to be a risk factor.13,14 Maternal smoking also increases the risk of orofacial cleft,15–19 with a population-attributable risk of up to 20%.15, 19 Anticonvulsant drugs20–22 increase risk of cleft palate and positive associations with maternal corticosteroid use in pregnancy have also been reported in the literature, although this is less clear-cut. 23 Low B-complex vitamins, folic acid deficiency24 and maternal obesity25 also have some links to clefting, although further research is needed to define these risks more clearly. If a primary relative has a facial cleft the chances of the child having a cleft, in the absence of a defined syndrome, is 3.5%. 26 This decreases with secondary and tertiary relatives. For parents who already have a child with an orofacial cleft, the risk of a subsequent child having a cleft is around 2–5%.
and/or palate (Figure 18.4). The frontonasal prominence is split into medial and lateral nasal prominences by development of a nasal pit on the ventrolateral aspect of the frontonasal prominence. Formation of the lip occurs between the fourth and sixth weeks of gestation when the bilateral maxillary prominences fuse with the medial nasal prominence to form the lip and alveolus. The secondary palate begins to form during the sixth week of development as the palatine shelves, which are outgrowths from the maxillary prominences, advance obliquely downward to lie horizontally over the tongue. The palatine shelves fuse with the previously formed primary palate and then from anterior to posterior the palatine shelves fuse in the midline, so that by week12 the palate is intact. Failure of any of these processes can result in clefting (Figure18.5).
18
FNP LNP MNP MAX MAN
Figure 18.4 Development and fate of the facial processes. Representation of a 30–32-day-old human embryo showing the development of the facial processes. FNP,frontonasal process; MAX,maxillary process; MAN,mandibular process; MNP,medial nasal process; LNP,lateral nasal process.
PP
EMBRYOLOGY An understanding of the embryology responsible for the development of the cranium and face is important as it allows us to understand why CL±P and CPO are different entities. The five main prominences responsible for development of the face are the frontonasal prominence, the paired right and left maxillary prominences and the right and left mandibular prominences. Incomplete or aberrant timing of fusion of the frontonasal and maxillary prominences results in cleft lip
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S LPS
(a)
(b)
Figure 18.5 Representation of 7-week-old embryo showing the fate of the facial processes. (a)Frontal view; (b)ventral view of primary and secondary palate. LPS,lateral palatal shelf; PP,primary palate; S,nasal septum.
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FUNCTIONAL ANATOMY Anatomical anomalies of the lip, palate, septum, external nose and other midline structures can affect patients with a cleft lip and plate.
Lip Integrity of the lip and oral sphincter is important for normal function of the mouth. A defect in the lip results in abnormal insertion of orbicularis oris and loss of continuity of the vermilion border, both of which have to be addressed in cleft lip repair in order to allow long-term return to form and function. The mucocutaneous area of
T
O
M
the lip is well defined into three regions: there is the cutaneous skin of the upper lip and philtrum, an intermediate area of dry mucosa known as the vermilion and an internal area of moist mucosa. 27 The orbicularis oris normally forms a full sling under the mucosal covering, however aberrant muscle due to the cleft results in insertion of the orbicularis oris into the dermis and nasal ala on the cleft side and insertion into the columella on the non-cleft side (Figure18.6).
Nose Abnormality of insertion of the orbicularis oris contributes to the nasal deformity seen as part of cleft lip. By inserting into the nasal alar base there is outward splaying of the lower lateral cartilage, which results in the alar base on the cleft side sitting more lateral and inferior than it should. This results in a differing shape and position of the lower lateral cartilage on the cleft side, with shorter medial crus and longer lateral crus, and a classically flattened and wider dome on the cleft side. The columella is shortened and the anterior cartilaginous septum deviated to the non-cleft side, due to the unopposed pull of the orbicularis oris on the columella. This allows bowing of the septum onto the cleft side more posteriorly and, along with the reduction in the nasal valve area due to lower lateral cartilage abnormalities, the overall nasal airway is restricted. Nasal airflow resistance is known to be higher in patients with CL±P by around 20–30%. 28,29
Palate Figure 18.6 Nasolabial muscle ring in unilateral cleft lip. M,myrtiform head of nasalis muscle; O,oblique head of orbicularis oris; T,transverse head of nasalis muscle.
Clefts of the palate are associated with bony and soft-tissue abnormalities. Adequate closure of the velopharyngeal port for speech and swallowing is the aim of palate repair. The primary velar muscles are the levator veli palatini, palatopharyngeus and palatoglossus (Figure 18.7). The levator Figure 18.7 Velum muscles. (a)Sagittal view from midline; (b)inferior view. LP,levator palatini; PP,palatopharyngeus; SP,superior constrictor; TP,tensor palatine.
LP SC
TP LP
PP TP LP PP
(a)
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(b)
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18: CLEFT LIP AND PALATE 189
veli palatini muscle is the primary elevator of the palate. It originates from the medial part of the Eustachian tube and from the petrous temporal bone and runs anteriormedially to enter the middle third of the velum between the two heads of palatopharyngeus to join with its partner from the opposite side, and form the levator sling. In patients with a cleft palate the levator veli palatini no longer has this transverse orientation, but instead the muscle is longitudinally orientated and inserts into the bony cleft margin and posterior palatine bones. The palatoglossus and palatopharyngeus arise from the back of the palatal aponeurosis and maxillary tuberosity. The palatoglossus is a thin sheet of muscle that extends to form the anterior tonsillar pillar. The palatopharyngeus is a more substantial muscle that is split into two heads by the insertion of the levator veli palatini and runs down to form the posterior tonsillar pillar and inserts into the thyroid cartilage and pharyngeal aponeurosis. The palatopharyngeus and palatoglossus act as depressors and, along with the levator veli palatini, these muscles act to lengthen the velum. The final muscle to consider is the tensor veli palatini, whose primary function is opening of the Eustachian tube. Its fibres originate from the sphenoid spine, scaphoid fossa and lateral lamina of the Eustachian tube cartilage,30 and form a tendon which winds round the pterygoid hamulus and spreads into a fibrous aponeurosis in the anterior third of the soft palate.
ENT ISSUES Airway All children are obligate nasal breathers for the first few months of life. This is due to the high position of the infantile larynx that gradually descends. In the neonate the anterior epiglottis can often be easily seen in the oral cavity behind the soft palate. This superior position of the larynx allows the infant to suckle. There are many congenital anomalies associated with cleft lip and palate, and one of the most commonly seen in ENT is Pierre Robin sequence (PRS). In PRS micrognathia and glossoptopsis may result in upper airway obstruction (Figure18.8).
NEONATAL PERIOD Upper airway obstruction can happen immediately following delivery or can develop progressively over weeks or months of life. The Royal College of Paediatrics and Child Health (RCPCH) respiratory subgroup recommends that all children with craniofacial disorders including PRS undergo overnight oximetry, preferably in combination with measuring CO2 , within the first 4 weeks of life.31 Children with PRS may have worsening obstruction between 4 and 8weeks of age, and reassessment may be required during that time. Otherwise, further studies should be performed at 3–6-monthly intervals during the first year of life, and thereafter according to clinical symptoms. Often children with PRS have their palate surgery delayed until around 18months of age to allow their airway obstruction to improve. Treatment options for airway obstruction in these children, depends on the severity of symptoms. The options can be divided into two main subgroups, non-surgical and surgical, as listed in Box 18.3.
18
POST-OPERATIVE PERIOD Any airway issues tend to happen within 24–48hours of surgery. They are usually associated with palatal surgery or pharyngoplasties but on occasion can occur following lip repair or anterior rhinoplasty. Children are often placed in an HDU following primary lip and palatal surgery to allow careful monitoring in the early post-operative period. This allows close monitoring of the child and early intervention if the child develops any signs of respiratory distress.
LONG-TERM SLEEP-DISORDERED BREATHING All cleft children have the same risk as other children with regard to sleep-disordered breathing and obstructive sleep apnoea (e.g. secondary to adenotonsillar hyperplasia). They may, however, be at higher risk due to their anatomical abnormalities being corrected and narrowing the nasopharynx. A pharyngoplasty is performed to reduce the nasopharyngeal airway to help prevent nasal escape during speech. This has the potential detrimental effect of increasing the likelihood of apnoeic episodes. Careful pre-operative discussion and patient evaluation within the multidisciplinary team setting should be undertaken to discuss the risks versus benefits of such a procedure. The complications of chronic obstructive sleep apnoea (OSA) include hypoxemia, hypercarbinemia, neuropsychiatric problems and decreased cognitive function. In severe cases the chronic obstruction can result in pulmonary hypertension and cardiac failure. There is also a link between OSA in childhood and adult hypertension. BOX 18.3 Treatment options for airway obstruction
(a)
(b)
Figure 18.8 Diagrams showing (a)normal airway in an infant; (b)where retro-position of the mandible has resulted in the tongue blocking the airway.
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Non-surgical
Surgical
Nasopharyngeal airway CPAP
Tongue–lip adhesion Tracheostomy Mandibular distraction
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190 Section 1: Paediatrics
Hearing loss As in all children, hearing loss in CL±P patients can be conductive, sensorineural or mixed. Otitis media with effusion (OME) is almost ubiquitous with CL±P. Approximately 97% of cleft children are thought to have had an episode of OME by the age of 2, 32 with the incidence reducing with increasing age. 33 The aetiology behind the increased incidence of OME is thought to be due to Eustachian tube dysfunction secondary to the malposition of the tensor veli palatini muscle, as mentioned previously. In the recent past this has led to the ‘routine’ insertion of ventilation tubes at an early age, usually at the time of palatal repair. However, as more data have been collected about the incidence and prevalence of the otological sequelae of OME, a much more selective approach has been introduced. Recent systematic reviews 32,34 have shown there was insufficient evidence to determine if early ventilation tube placement had any benefit on either hearing or speech development, and that further studies in this area are warranted. Currently in the UK the Cleft Collective research group is undertaking the MOMENT trial (The Management of Otitis Media with Effusion in Children with Cleft Palate) to try to acquire more guidance on the optimum management of OME in CL±P patients. 35 As we know, not all episodes of OME will result in a hearing loss or damage to the middle ear. Current recommendations in the UK are found in NICE60. 36 Essentially, a persistent CHL associated with OME in excess of 25–30 dBHL or OME affecting a child’s developmental, social or educational status should be offered treatment. The treatment options should include ventilation tube insertion or provision of hearing aids. Primary ventilation tube insertion is only recommended after careful ENT/audiology assessment in children with a cleft palate. In the UK cleft care is closely audited and minimal standards of care have been agreed. Routine hearing testing is taken at 6months, and 1, 2, 3, 4, 5, 10 and 15years of age. Ensuring adequate hearing thresholds allows normal verbal communication to develop. This is important in the CL±P population as learned ‘cleft type’ speech cannot be corrected at an older age. Long-term middle ear disease has also been reported to be higher in the cleft population due to persistence of Eustachian tube dysfunction following palatoplasty. Retraction pockets and subsequent development of cholesteatoma has been found to be higher in the cleft population37–41 and ongoing otologic assessment in these patients is important.
and dental problems require that this care is addressed in a multidisciplinary setting in order to allow adequate attention to all aspects of care and subsequently improve outcomes.42 Input is needed from a cleft surgeon, otolaryngologist, paediatric dentist, specialist nurse, speech therapist, psychologist, audiologist, orthodontist, geneticist and paediatrician. During the management of children with a cleft lip and palate, areas to be addressed are: • • • • •
speech hearing appearance dental growth and hygiene psychosocial health.
Diagnosis Prenatal diagnosis of cleft lip and palate has allowed around 75% of children to be picked up as early as 13–16 weeks’ gestation by ultrasonography.43 Isolated cleft palate cannot be as easily detected prenatally, but the role of prenatal foetal MRI in further diagnosing palatal clefting may become more frequent in the future.43 Following diagnosis, the parents should be referred antenatally to the cleft team so that appropriate support can be provided. Advice can be given on feeding, expectations of treatment protocols and details of parental support groups. After birth the specialist cleft nurse will make contact within the first 24hours to give support and help establish feeding. Children with a cleft lip and palate may be able to breastfeed with help, or the use of specialized bottles (Haberman) may be more helpful, as the ability to create a vacuum to suckle milk is reduced.
Surgical management Surgical management of cleft lip and plate is complex and tailored to the individual deformity present. There are numerous techniques across the world to deal with orofacial clefts and the detailed surgical steps of each procedure are beyond the scope of this chapter. The principles of surgical management are covered. Table18.2 summarizes the timings of surgical management options.
TABLE 18.2 Surgical management from birth to adulthood Age
Procedure
3–6 months
Primary lip ± nose repair ± hard palate
9–12 months
Palate repair ± ventilation tubes
MANAGEMENT
4–5 years
Secondary speech surgery (if required)
8–10 years
Alveolar bone graft (if required)
Care of a child with a cleft lip or palate is a complex, highly specialized and lifelong undertaking. Deficiencies of speech, facial growth, cosmetic appearance, hearing
15–18 years
Secondary rhinoplasty
16 years +
Orthognathic surgery (if required)
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PRESURGICAL ORTHOPAEDICS AND NASOALVEOLAR MOULDING Nasoalveolar moulding (NAM) is a form of presurgical infant orthopaedics designed to reduce the severity of the cleft deformity and move the nasal alar cartilages into a more favourable position. Attempts to reduce the severity of the cleft are not a new phenomenon and various devices have been used in the recent past. NAM involves using an oral plate, which is individually moulded with nasal stents attached, to try to achieve these aims. The device is fitted as soon after birth as feasible and is worn fulltime. It is regularly adjusted to alter the shape and length of the nasal cartilages and columella. The research on whether NAM successfully achieves these outcomes remains inconclusive,44 although some studies show positive results,45–47 particularly in improving nasal symmetry in the unilateral cleft lip and palate patients.48 Randomized controlled trials at a national level are lacking and, although NAM is gaining support particularly in North America, it is yet to be incorporated into routine UK practice.
LIP REPAIR Repair of the cleft lip aims to address both functional and cosmetic problems. In the UK the lip is generally repaired when the child is 3–6months of age, along with the hard palate and primary nasal surgery, dependent on requirements. Neonatal lip repair is performed in some centres, although no firm evidence of aesthetic or functional benefit yet exists.49,50 The aims in both unilateral and bilateral cleft lip repair are similar: to achieve primary muscle continuity and reconstruct the lip elements to give a symmetrical-appearing Cupid’s bow with the minimum of scarring. The importance of reconstructed musculature in achieving optimal results is well reported and should be adequately addressed at the time of lip repair. 51–56 Bilateral cleft lip is a more severe deformity than unilateral and achieving muscle continuity across the projected premaxilla can be a challenge. The use of lip adhesion (taping of the lateral lip segments to the premaxillary segment) and single-sided staged surgery have been advocated in an attempt to facilitate lip repair, but neither of these approaches is supported in the literature. There are multiple approaches to reconstructing the skin of the lip, the Millard repair and its modifications, and the Fisher repair being the two most commonly practised in the UK.
PALATE REPAIR
Soft palate The aim of palatoplasty is to reorientate the palatal muscles in order to achieve lengthening and improve movement of the palate in order to create adequate velopharyngeal closure. There are various surgical options available to the cleft surgeon, each of whom will have their preference. The intravelarveloplasty, popularized by Sommerlad, involves radical dissection of the velar muscles and reorientation to a transverse position to recreate the anatomical levator sling. 57 The nasal and oral mucosa are dissected from the muscles and repaired over the newly formed sling to close the cleft (Figure18.9). The Furlow palatoplasty uses a double opposing Z-plasty technique to lengthen and reorientate the muscles. This method results in posterior repositioning of the velar muscles, albeit with a degree of asymmetry, and results in some degree of palatal lengthening. Both techniques have been shown to have good speech outcomes58,59 and there has been no difference found in audiological outcomes between the techniques.60
18
NASAL SURGERY Nasal surgery in a patient with a cleft lip and palate aims to improve aesthetics and nasal airflow, in a timely fashion but with the minimum of disruption to facial growth. Cleft nose deformity is characterized by an asymmetric nasal tip, deviated septum and asymmetry of the nasal bones. Timing of nasal surgery is somewhat controversial. Given the complexity of cleft nasal deformities, definitive rhinoplasty is often reserved until adolescence and completed facial skeletal growth, however evidence has shown that stable long-term results with limited growth disturbance can be achieved with primary rhinoplasty.61–64
TP
PP
LP
Hard palate Timing of palatal closure is variable between centres, and there is a trade-off between early palatal closure to help speech, and delaying hard palate closure to improve facial growth. In the UK it is common practice to close the hard palate with a vomerine flap at the time of lip repair in a complete cleft lip and palate, or close with the soft palate repair in an isolated cleft palate patient.
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Figure 18.9 Cleft palate muscles. LP,levator palatini; PP,palatopharyngeus; TP,tensor palatini.
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ALVEOLAR BONE GRAFTING Some children will require alveolar bone grafting as a secondary procedure to stabilize the alveolar arch and allow eruption of the lateral incisor and canine into an optimal position. There is good evidence that secondary alveolar bone grafting produces consistently good results. 65, 66 Timing of the bone graft is usually determined by the development of the canine tooth, although earlier bone grafting may be indicated to support the eruption of the lateral incisor. There is no evidence that secondary bone grafting has a detrimental effect on facial growth when performed between 9 and 11years of age. This is in contrast with primary bone grafting carried out before 2–3years of age where evidence from retrospective case series suggests that these early bone grafts were associated with significant growth impairment. 67, 68
SPEECH AND VELOPHARYNGEAL INSUFFICIENCY Velopharyngeal insufficiency (VPI) can occur in children with a repaired cleft palate, those with a submucous cleft and in children without any obvious palatal abnormalities. It can also occur after adenoidectomy, with a reported clinically significant incidence of between 1 in 1500 and 1 in 3000. Stigmata of a submucous cleft are bifid uvula, zona pellucida and hard palate notch, all of which should be examined for at the time of adenoidectomy. VPI occurring after adenoidectomy will spontaneously resolve in about 50% of cases.69 In order to achieve intelligible speech, the palate must be able to seal against the posterior pharyngeal wall and close off the nasopharynx. If this is impaired, nasal emissions and hypernasal speech can ensue. Around 20% of cleft palate children have persistent speech disorder following surgery, falling into the worst category of intelligibility.70
Treatment for velopharyngeal insufficiency includes speech therapy and palatal or pharyngeal surgery, dependent on the degree of VPI, underlying aetiology and age of the patient. In children with a submucous cleft, management is indicated only if symptoms of VPI occur. Assessment of VPI is best performed in a multidisciplinary environment. Examination of the mouth, concentrating on the integrity and movement of the soft palate and the tonsils, which rarely if hypertrophied may be interfering with palatal closure. Nasal examination and assessment of nasal patency should be performed. Standardized tests to assess articulation and intelligibility are performed by speech and language therapy.70 Flexible nasoendoscopy is fast becoming the investigation of choice to assess velopharyngeal port closure objectively. Speech videofluoroscopy is also widely used by many teams and can be an alternative if nasoendoscopy is not tolerated. Both investigations provide information and so far research has not shown superiority of one over the other,71 although nasoendoscopy may provide a closer correlation with VPI severity.72 Management decisions come down to underlying symptoms and the size and location of the velopharyngeal gap. Palatoplasty may be indicated to treat VPI, either as a rerepair where there is evidence of anterior insertion of the levator muscles, or in the case of a submucous cleft. It is mainly used where the velopharyngeal gap is small73, 74 and has been shown to have a lower morbidity than a pharyngoplasty.75 Pharyngoplasty involves altering the shape of the velopharyngeal port in order to allow closure on speech. This can be done either by using flaps from the midline of the pharyngeal wall or by employing medial transposition of flaps from the lateral pharyngeal wall. Both types of pharyngoplasty have been shown to improve speech outcomes, with the possibility of achieving normal resonance in up to 85% of cases. The main downside to pharyngoplasty is the associated increased risk of sleep apnoea, and this must be discussed with the patient and their family pre-operatively.
KEY POINTS • Clefts of the lip and palate are common congenital birth
• Management of patients with cleft lip and palate
anomalies. • Aetiology is multifactorial. Known associations are with maternal smoking and alcohol and antenatal anticonvulsants. • Prenatal screening for cleft lip and palate is now routinely available in many centres.
requires a multidisciplinary approach to ensure the best outcomes. • Otitis media with effusion is a significant problem in cleft palate children and further research is required to identify best practice for management.
REFERENCES 1. 2. 3. 4.
Goodacre T, Swan M. Cleft lip and palate: current management. Paediatr Child Health 2011; 22: 4. Veau V. Division palatine. Paris: Masson; 1931. Kernahan DA. The striped Y: a symbolic classification for cleft lip and palate. Plast Reconstr Surg 1971; 47: 469–70. Hartzell LD, Kilpatrick LA. Diagnosis and management of patients with clefts. Otolaryngol Clin North Am 2014; 47: 821–52.
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5.
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BMJ Best Practice. Cleft lip and palate. Available from: http://bestpractice.bmj.com/ best-practice/monograph/675/treatment/ guidelines.html Chigurupati R. Cleft lip and palate: timing and approaches to reconstruction. In: Bagheri SC, BellRB, Khan HA (eds). Current therapy in oral and maxillofacial surgery. Toronto: Elsevier; 2012, Chapter 83, pp.726–59. Maarse W, Rozendall AM, Pajkrt E, et al. A systemic review of associated structural
8. 9.
defects in oral clefts: when is prenatal genetic analysis indicated? JMed Genet 2012; 49: 490–8. Winter RM, Baraitser M. The London Dysmorphology Database. J Med Genet 1987; 24(8): 509–10. Watkins SE, Meyer RE, Strauss RP, Aylsworth AS. Classification, epidemiology and genetics of orofacial clefts. Clin Plast Surg 2014; 41: 149–63.
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18: CLEFT LIP AND PALATE 193 10. Mitchell LE. Transforming growth factor alpha locus and non syndromic cleft lip with or without cleft palate: a reappraisal. Genet Epidemiol 1997; 14: 231–40. 11. Lidral AC, Murray JC, Buetow KH, etal. Studies of the candidate genes TGB2, MSX1, TGFA and TGFB3 in the aetiology of cleft lip and palate in the Philippines. Cleft Palate Craniofac J 1997; 34: 1–6. 12. van den Boogaard MJH, Dorland M, Beemer FA, van Amstel HK. MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans. Nature Genet 2000; 24: 342–3. 13. Grewal J, Carmichael SL, Ma C, et al. Maternal periconceptional smoking and alcohol consumption and risk for select congenital anomalies. Birth Defects Res 2008; 82: 519–26. 14. Romitti PA, Sun L, Honein MA, et al. Maternal periconceptional alcohol consumption and risk for orofacial clefts. Am J Epidemiol 2007; 134: 298–303. 15. Little J, Cardy A, Munger RG. Tobacco smoking and oral clefts: a meta-analysis. Bull World Health Organ 2004; 82: 213–18. 16. Chung KC, Kowalski CP, Kim HM, Buchman SR. Maternal cigarette smoking during pregnancy and the risk of having a child with cleft lip/palate. Plast Reconstr Surg 2000; 105: 485–91. 17. Honein MA, Rasmussen SA, Reefhuis J, et al. Maternal smoking and environmental tobacco smoke exposure and the risk of orofacial clefts. Epidemiology 2007; 18: 226–33 [Centre for Reviews and Dissemination; University of York]. 18. Li Z, Liu J, Ye R, et al. Maternal passive smoking and risk of cleft lip with or without cleft palate. Epidemiology 2010; 21: 240–2. 19. Honein MA, Rasmussen SA, Reefhuis J, etal. Maternal smoking and environmental tobacco smoke exposure and the risk of orofacial clefts. Epidemiology 2007; 18: 226–33. 20. Dravet C, Julian C, Legras C, et al. Epilepsy, antiepileptic drugs, and malformations in children of women with epilepsy: a French prospective cohort study. Neurology 1992; 42: 75–82. 21. Abrishamchian AR, Khoury MJ, Calle EE, et al. The contribution of maternal epilepsy and its treatment to the aetiology of orofacial clefts: a population based casecontrol study. Genet Epidemiol 1994; 11: 343–51. 22. Shaw GM, Wasserman CR, O’MalleyCD, et al. Orofacial clefts and maternal anticonvulsant use. Reprod Toxicol 1995; 9: 97–8. 23. Park-Wyllie L, Mazzotta P, Pastuszak A, etal. Birth defects after maternal exposure to corticosteroids: prospective cohort study and meta-analysis of epidemiological studies. Teratology 2000; 62: 385–92. 24. Molina-Solana R, Yáñez-Vico R-M, Iglesias-Linares A, et al. Current concepts on the effect of environmental factors on cleft lip and palate. Int J Oral Maxillofac Surg 2013; 42(2): 177–84. 25. Blanco R, Colombo A, Suzao J. Maternal obesity is a risk factor for orofacial clefts: a meta-analysis. Original Research Article. Br J Oral Maxillofac Surg 2015; 53(8): 699–704. 26. Grosen D, Chevrier C, Skytthe A, et al. A cohort study of recurrence patterns among more than 54 000 relatives of
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oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance. JMed Genet 2010; 47:162–8. 27. Markus AF, Delaire J. Functional primary closure of cleft lip. Br J Oral Maxillofac Surg 1993; 31: 281–91. 28. Turvey TA, Vig K, Fonseca RJ. Facial clefts and craniosynostosis: Principles and management. Philadelphia: WB Saunders; 1996, pp.39–40. 29. Grossman N, Brin I, Aizenbud D, et al. Nasal airflow and olfactory function after the repair of cleft palate (with and without cleft lip). Oral Surg Oral Med Oral Pathol Oral Radiol Endodontol 2005; 100: 539–44. 30. Leuwer R. Antomy of the Eustachian tube. Otolaryngol Clin North Am 2016; 49(5): 1097–106. 31. RCPCH. Sleep physiology and respiratory control disorders in childhood. RCPCH-endorsed guidelines. Available from: http://www.rcpch.ac.uk/ improving-child-health/clinical-guidelines/ find-paediatric-clinical-guidelines/ diabetes-and-endocrin. 32. Kuo C-L, Tsao Y-H, Cheng H-M, et al. Grommets for otitis media with effusion in children with cleft palate: a systematic review. Pediatrics 134; 5: 983–94. 33. Flynn T, Lohmander A. A longitudinal study of hearing and middle ear status in individuals with UCLP. Otol Neurotol 2014; 35: 989–96. 34. Ponduri S, Bradley R, Ellis PE, et al. Themanagement of otitis media with early routine insertion of grommets in children with cleft palate: A systematic review. Cleft Palate Craniofac J 2009; 46:30–8. 35. Harnan NL, Bruce IA, Callery P, et al. MOMENT - Management of otitis mediawith effusion in cleft palate: protocol for a systematic review of the literatureand identification of a core outcome set using a Delphi survey. Trials 2013; 14:70. 36. NICE. Surgical management of otitis media with effusion in children. London: RCOG Press; 2008. 37. Spilsbury K, Ha JF, Semmens JB, LanniganF. Cholesteatoma in cleft lip and palate: a population-based f ollow-upstudy of children after ventilation tubes. Laryngoscope 2013; 123(8): 2024–9. 38. Harris L, Cushing SL, Hubbard B, et al. Impact of cleft palate type on the incidence of acquired cholesteatoma. Int J Pediatric Otorhinolaryngol 2013; 77(5): 695–8. 39. Reiter R, Haase S, Brosch S. Repaired cleft palate and ventilation tubes and their associations with cholesteatoma in children and adults. Cleft Palate CraniofacJ 2009; 46(6): 598–602. 40. Goudy S, Lott D, Canady J, Smith RJH. Conductive hearing loss and otopathology in cleft palate patients. Otolaryngol Head Neck Surg 2006; 6: 946–8. 41. Lehtonen V, Lithovius RH, Autio TJ, et al. Middle ear findings and need for ventilation tubes among pediatric cleft lip and palate patients in northern Finland. JCraniomaxillofac Surg 2016; 44(4): 460–4. 42. Ness AR, Wills AK, Waylen A, etal. Centralization of cleft care in the UK. Part 6: a tale of two studies. OrthodCraniofac Res 2015; 18(Suppl2): 56–62.
43. James JN, Schlieder DW. Prenatal counseling, ultrasound diagnosis, and the role of maternal-fetal medicine of the cleft lip and palate patient. Oral Maxillofac Surg Clin North Am 2016; 28(2): 145–51. 44. Rodman R, Tatum S. Controversies in the management of patients with cleft lip and palate. Facial Plast Surg Clin North Am 2016; 24(3): 255–64. 45. Lee CTH, Garfinkle JS, Warren SM, et al. Nasoalveolar moulding improves appearance of children with bilateral cleft lip and palate. Plast Reconstr Surg 2008; 122: 1131–7. 46. Barillas I, Dec W, Warren SM, et al. Nasoalveolar moulding improves longterm nasal symmetry in complete unilateral cleft lip – cleft palate patients. Plast Reconstr Surg 2009; 123: 1002–6. 47. Chang CS, Por YC, Liou J-W, et al. Long-term comparison of four techniques for obtaining nasal symmetry in unilateral complete cleft lip patients: a single surgeon’s experience. Plast Reconstr Surg 2010; 126: 1276–84. 48. Abott MM, Meara JG. Nasoalveolar moulding in cleft care: is it efficacious? Plast Reconstr Surg 2012; 130(3): 659–66. 49. Meheik JN, Sfalli P, Bondonny JM, et al. Early repair for infants with cleft lip and nose. Int J Pediatr Otorhinolaryngol 2006; 70(10): 1785–90. 50. Goodacre TE, Hentges F, Moss TL, et al. Does repairing a cleft lip neonatally have any effect on the longer-term attractiveness of the repair? Cleft Palate CraniofacJ 2004; 41(6): 603–8. 51. Randall P. The importance of muscle. In: Bardach J, Morris UL (eds). Multidisciplinary management of cleft lip and palate. Philadelphia: WB Saunders; 1990, pp.1133–71. 52. Schendel S. Cleft lip repair: an alternative approach. In: Vistnes L (ed.). How they do it. Boston: Little Brown; 1991, pp.338–50. 53. Delaire J. Theoretical principles and technique of functional closure of the lip and nasal aperture. JMaxillofac Surg 1978; 6(2): 109–16. 54. Markus AF, Delaire J, Smith WP. Facial balance in cleft lip and palate II. Cleft lip and palate and secondary deformities. Br J Oral Maxillofac Surg 1992; 30: 296–304. 55. Joos U. Skeletal growth after muscular reconstruction for cleft lip, alveolus and palate. Br J Oral Maxillofac Surg 1995; 33(3): 139–44. 56. Markus AF, Precious DS. Effect of primary surgery for cleft lip and palate on midfacial growth. Br J Oral Maxillofac Surg 1997; 35(1): 6–10. 57. Sommerlad BC. A technique for cleft palate repair. Plast Reconstr Surg 2003; 112(6): 1542–8. 58. LaRossa D, Jackson OH, KirschnerRE, etal. The Children’s Hospital of Philadelphia modification of the Furlow double-opposing z-palatoplasty: long-term speech and growth results. Clin Plast Surg 2004; 31(2): 243–9. 59. Randall P, LaRossa D, Solomon M, CohenM. Experience with the Furlow double-reversing Z-plasty for cleft palate repair. Plast Reconstr Surg 1986; 77: 569–76. 60. Russell C, McCahil C, MacFie J, et al. Furlow palatoplasty or midline palatal repair with intravelar-veloplasty for cleft
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61.
62.
63.
64.
65.
palate: Are there any differences in audiological outcome? Br J Oral Maxillofac Surg 2012; 50(1): S2. McComb H. Primary correction of unilateral cleft lip nasal deformity: a 10-year review. Plast Reconstr Surg 1985; 75(6): 791–9. McComb HK, Coghlan BA. Primary repair of the unilateral cleft lip nose: completion of a longitudinal study. CleftPalate CraniofacJ 1996; 33(1): 23–30. Anderl H, Hussl H, Ninkovic M. Primary simultaneous lip and nose repair in the unilateral cleft lip and palate. Plast Reconstr Surg 2008; 121(3): 959–70. Brusse CA, Van der Werff JF, Stevens HP, etal. Symmetry and morbidity assessment of unilateral complete cleft lip nose corrected with or without primary nasal correction. Cleft Palate CraniofacJ 1999; 36(4): 361–6. Bergland O, Semb G, Abyholm FE. Elimination of the residual alveolar cleft by secondary bone grafting and subsequent orthodontic treatment. Cleft PalateJ 1986; 23: 175–205.
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66. Semb G, Borchgrevink H, Saelher IL, Ramsted T. Multidisciplinary management of cleft lip and palate in Oslo, Norway. In: Bardach J, Morris HL (eds). Multidisciplinary management of cleft palate. Philadelphia: WB Saunders; 1990, pp.27–37. 67. Jolleys A, Robertson NRE. A study of theeffects of early bone grafting in complete clefts of the lip and palate: Five year study. Br J Plast Surg 1972; 25: 229–37. 68. Rehrmann AH, Koberg WR, Koch H. Long-term post-operative results of primary and secondary bone grafting in complete clefts of the lip and palate. Cleft PalateJ 1970; 7: 206–21. 69. Stewart KJ, Ahmad T, Razzell RE, WatsonAC. Altered speech following adenoidectomy: a 20 year experience. BrJPlast Surg 2002; 55: 469–73. 70. Sell D, Mildinhall S, Albery L, et al. The Cleft Care UK study. Part 4: perceptual speech outcomes. Orthod Craniofac Res 2015; 18(Suppl 2): 36–46.
71. Glade RS, Deal R. Diagnosis and management of velopharyngeal dysfunction. Oral Maxillofac Surg Clin North Am 2016; 28: 181–8. 72. Lam DJ, Starr JR, Perkins JA. A comparison of nasoendoscopyand multiview videofluoroscopy in assessing velopharyngeal insufficiency. Otolaryngol Head Neck Surg 2006; 134: 394–402. 73. Sie KC, Tampakopoulou DA, Sorom J, etal. Results with Furlow palatoplasty in management of velopharyngeal insufficiency. Plast Reconstr Surg 2001; 108: 17–25; discussion 26–9. 74. Sommerlad BC, Mehendale FV, Birch MJ, et al. Palate re-repair revisited. Cleft Palate CraniofacJ 2002; 39: 295–307. 75. Liao YF, Noordhoff MS, Huang CS, et al. Comparison of obstructive sleep apnea syndrome in children with cleft palate following Furlow palatoplasty or pharyngeal flap for velopharyngeal insufficiency.Cleft Palate CraniofacJ 2004; 41: 152–6.
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19 CHAPTER
CRANIOFACIAL SURGERY Benjamin Robertson, Sujata De, Astrid Webber and Ajay Sinha
Introduction.................................................................................. 195 Craniosynostosis........................................................................... 196 Single-suture non-syndromic craniosynostosis ............................200 Syndromic craniosynostosis..........................................................201 Management of syndromic craniosynostosis.................................204 Complications of craniofacial surgery...........................................208
Hemifacial microsomia/OAVS........................................................209 Treacher Collins syndrome (mandibulofacial dysostosis) .............. 211 Encephalomeningocoele............................................................... 213 Craniofacial clefts......................................................................... 214 References................................................................................... 216
SEARCH STRATEGY Data in this chapter may be updated by a PubMed search using the keywords: craniofacial, craniosynostosis, OAVS, Treacher Collins, Apert, Crouzon, Pfeiffer, encephalocele, distraction osteogenesis, facial cleft, scapocephaly, trigonocephaly, brachycephaly and plagliocephaly.
INTRODUCTION Craniofacial surgery is the medical specialty that diagnoses and manages complex congenital and acquired conditions of the craniofacial skeleton and associated structures. Patients with such conditions vary in their development and phenotypic presentation. Traditionally, these were thought of as congenital conditions but the term can be all-encompassing. Due to the complexity of patients with craniofacial conditions, their treatment is required to take place in a multidisciplinary unit. Table19.1 shows the specialties that comprise the multidisciplinary team (MDT) with their roles. Treatment often lasts from the perinatal period, well into adolescence and often into early adulthood. Owing to the complexity and heterogeneity of craniofacial anomalies there is no universal classification system. Many classification systems have been proposed, based on embryology, aetiology, anatomical location, morphology and genetics. In England, the National Commissioning Group recognizes six categories of patient:1 • craniofacial clefts • craniofacial dysostosis • craniosynostosis
• encephalocoele • overgrowth, undergrowth or dysraphia associated with
unilateral or bilateral orbital dystopia or displacement • any other complex anomaly where referring special-
ists feel that the expertise present within the service would substantially benefit the treatment of the condition. There are multiple other conditions of the craniofacial region that, although not specified in this classification, are often treated in these units due to the expertise of the clinicians involved. Currently in England and Wales, there are four units commissioned to treat the above conditions: • • • •
Alder Hey Children’s Hospital, Liverpool Birmingham Children’s Hospital Great Ormond Street Hospital, London Oxford University Hospital.
The aim of this chapter is to describe the more commonly encountered groups of craniofacial anomalies, to outline the principles of their management and to review the role of the ENT surgeon in managing these patients. The genetic contribution to these conditions will also be discussed.
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196 Section 1: Paediatrics
Maxillofacial surgery
Surgical correction of deformity
Plastic surgery
Surgical correction of deformity
Neurosurgery
ICP, hydrocephalus, associated abnormalities, combined surgical treatment of the condition
Ophthalmology
ICP, acuity and motility, corneal protection
place on the inner and outer surfaces of the calvarial bones to produce changes in their curvature and thickness. The patent cranial sutures therefore allow for growth to take place in response to the stimulus of the growing brain and, unlike the epiphyseal plates of the long bones, cranial bones do not have intrinsic growth potential. The sutures only remain patent while brain growth is taking place. If brain growth ceases, cranial growth ceases, and the cranial sutures will be replaced by bone, resulting in fusion – a normal phenomenon once growth is complete.
ENT (+ audiology)
Airway + nasal problems, hearing and middle ear disease
Classification
Anaesthetist
Experience of paediatric craniofacial and neurosurgical anaesthesia Access to paediatric intensive care unit (PICU)
Genetics
Diagnosis, associated conditions, risk of future siblings having the condition, risk of patient passing on the condition to his/her children
Speech and language therapist
Speech and language, feeding, general developmental milestones
Psychologist
Parental anxiety, preparation for operations, intervention for older patients, coping strategies, cognitive assessment
Paediatrician
General development, associated abnormalities
Orthodontist
Craniofacial growth and development, dental condition and occlusion
Specialist nurses and coordinators
Coordinating day-to-day activities/ advice/wound management
TABLE 19.1 The craniofacial team Discipline
Role
CRANIOSYNOSTOSIS Craniosynostosis is the premature fusion of one or more sutures of the skull. This can occur as primary or secondary synostosis. The differentiation is paramount as treatment options differ greatly. In order to understand the pathophysiology of craniosynostosis, normal skull growth must be considered.
Normal skull growth The stimulus for growth of the cranium comes from the expanding brain, which grows rapidly in the first 2years of life, doubling in weight in the first year and achieving 90% of its adult size by the age of 2 years. This rapid brain growth has to be accommodated by a concomitant expansion in volume of the skull. The cranial vault consists of the frontal, parietal, temporal and occipital bones, which are separated from each other by the cranial sutures (metopic, sagittal, coronal and lambdoid). These sutures allow gradual displacement of the individual bones, allowing the brain to expand. In order to avoid large gaps developing between the bones as the expansion proceeds, new bone is deposited at the free margins of the bones adjacent to the sutures. Bone resorption and deposition also take
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Premature fusion of calvarial sutures has a variety of underlying causes, broadly divided into primary and secondary craniosynostosis. 2 Secondary craniosynostosis is uncommon, but may be seen in microcephaly, where there is a lack of underlying brain growth, in some haematologic (polycythaemia, thalassaemia) and metabolic abnormalities (rickets, hyperthyroidism), and may be drug-induced (retinoic acid). Primary craniosynostosis is much more common than secondary craniosynostosis. It can be classified on the basis of the number of sutures involved (single-suture, multiple or total), the site of the involved suture(s) (metopic, coronal, sagittal, lambdoid) and whether it is an isolated condition (non-syndromic) or associated with other malformations (syndromic). Primary craniosynostosis constitutes a significant workload in craniofacial units.
Incidence Primary non-syndromic craniosynostosis occurs in approximately 1 : 2000 live births. Of the non-syndromic craniosynostoses, sagittal synostosis is the most common, accounting for approximately 60% of cases. In cases of non-syndromic craniosynostosis there is a male predominance with male to female ratios of 4 : 1 in sagittal synostosis and 3 : 1 in metopic synostosis. Of the syndromic craniosynostoses, Crouzon syndrome has the highest incidence, with 1 : 25 000 live births3 and Apert syndrome in 1 : 60 000 live births.4
Aetiology Craniosynostosis is aetiologically heterogeneous.4 Both non-syndromic and syndromic craniosynostoses result from an interaction between genetic factors, molecular and cellular events, mechanical and deformational forces and secondary effects of each of these on normal growth and development. Premature fusion of the sutures may take place alone or, in syndromic craniosynostosis, with other anomalies. Most cases of isolated craniosynostosis are sporadic. However, familial cases do occur and a positive family history can be found in 14.4% of coronal, 6% of sagittal and 5.6% of metopic synostosis cases, but very rarely in lambdoid synostosis. 5–9 For isolated, singlesuture synostosis with unaffected parents, the recurrence risks range from 1% in sagittal synostosis to 5% in coronal and metopic synostosis.10
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Chromosomal abnormalities may also cause craniosynostosis, particularly in patients with other anomalies or problems with growth or development. Teratogens may also be causative, as in the case of sodium valproate and trigonocephaly. The syndromic craniosynostoses are usually genetically determined, often occurring as new mutations. There is an increasing recognition that some of the so-called isolated non-syndromic synostoses also have a genetic basis.
Genetics of craniofacial anomalies The vast array of genetic conditions causing craniofacial anomalies precludes an exhaustive discussion of their genetics in this text. However, it is appropriate to discuss the more common conditions and encourage a low threshold for the involvement of the clinical genetics team in the management of patients with craniofacial anomalies. Clinical geneticists can contribute to both diagnosis and counselling of affected individuals and also their families. Interested readers are encouraged to consult the texts of Gorlin et al.11 and Cohen and MacLean4 for more extensive details on craniofacial anomaly syndromes. When considering the aetiology of craniofacial anomalies, it is helpful to consider their aetiology in terms of malformations (e.g.genetic syndromes, teratogens), deformations (e.g. positional plagiocephaly) and disruptions (e.g. amniotic bands). Some craniofacial anomalies are multifactorial. Genetic testing is not indicated in patients with isolated sagittal or metopic synostosis in whom there are no associated abnormalities or concerns about growth or development, and no significant family history. However, coronal synostosis, even when isolated, warrants analysis of at least FGFR3 for the Pro250Arg mutation (see ‘Muenke syndrome’, or FGFR3-associated coronal synostosis syndrome below) and possibly analysis of the TWIST gene (see ‘Saethre–Chotzen syndrome’ below). Genetic testing by DNA analysis of specific genes is available only for syndromes where the causative gene has been identified. This facilitates diagnosis and also counselling of family members, particularly when a parent may be a gene carrier with a very mild phenotype. Chromosomal analysis should be considered in any patient with complex or multiple abnormalities, or in whom there are concerns regarding a child’s growth or development. Informed consent should be obtained prior to any genetic testing, especially as abnormal results may have implications for other family members as well as the child. Failure to identify a genetic abnormality in a syndromic patient does not, however, rule out a genetic cause for their condition, and involvement of a clinical geneticist is essential. Prenatal diagnosis by genetic analysis of chorionic villus sample or amniotic fluid may be available for conditions in which the causative genetic abnormality is known. Prenatal ultrasound scanning later in pregnancy may reveal abnormal craniofacial contour or associated skeletal or systemic abnormalities in syndromic conditions; however, the premature sutural fusion of isolated craniosynostosis is much more difficult to detect.
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Pathogenesis and consequences Premature suture fusion results in inhibition of skull growth in a direction perpendicular to the affected suture. Despite this localized failure of skull growth, the brain continues to grow, and expands in different directions, where expansion can be accommodated by normal (patent) sutures, producing compensatory changes at a distance from the abnormal suture and usually parallel to it.12 In the latter half of the last century, Moss13 postulated that the cranial base was the site of abnormal physical stresses, and that these could be transmitted to the dura of the cranial vault, resulting in suture fusion. Whatever the underlying mechanism, the restriction of growth perpendicular to the fused suture, and the compensatory changes elsewhere in the cranium, may result in a reduction in cranial volume (and hence raised intracranial pressure (ICP)) and a change in shape (resulting in characteristic changes dependent on the suture or sutures involved) (Table19.2).
19
TABLE19.2 The craniosynostoses. Affected sutures and resultant head shapes. The anterior aspect of the skull (the forehead) is towards the top of the table Shape of skull
Suture affected
Name
Saggital
Scaphocephaly
Metopic
Trigonocephaly
Unilateral coronal
Frontal plagiocephaly
Bilateral coronal
Brachycephaly
Unilateral lambdoid
True posterior synostotic plagiocephaly
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198 Section 1: Paediatrics
Clinical assessment and imaging The history may be of a baby with an abnormal head shape, present at birth, gradually becoming worse. Examination reveals the characteristic head shape with ridging of the affected suture. Plain films may allow assessment of sutural patency and the overall morphology of the skull. All sutures are usually easily visible in the normal growing skull, with the exception of the metopic suture, which normally fuses early. A prematurely fused suture may be sclerotic or may not be visible at all. The abnormal shape of the head will be apparent, and skull base abnormalities not apparent on clinical examination may be seen (e.g. the ‘harlequin eye’ appearance of the sphenoid ridge in coronal synostosis). Computed tomography (CT), especially when reconstituted via a 3D format, provides even more detail of the morphology of the skull (Figure19.1). In addition, a CT scan allows evaluation of the intracranial contents although magnetic resonance imaging (MRI) is a more useful modality for assessing intracranial anatomy and pathology.
Raised intracranial pressure It is logical to think of raised ICP developing as a result of failure of cranial expansion in the presence of continuing pressure from the growing brain. However, the relationship is complex, and other factors have been implicated. Raised ICP is not directly related to a decrease in intracranial volume,14 and venous hypertension has been identified as a
result of a significantly narrower jugular foramen (6.5 mm versus 11.5 mm) in complex and syndromic patients with raised ICP.15 The reported incidence of raised ICP in patients with craniosynostosis shows wide variation, and there is variability in the threshold for diagnosis in reported studies, with values of 15 mmHg or 20 mmHg chosen.16 Reported incidence in mixed cohorts of non-syndromic and syndromic patients vary from 17% to 92%.14, 17–19 Studies that have compared the incidence of raised ICP in non-syndromic and syndromic patients have shown a higher incidence in syndromic patients (approximately 50%) compared with non-syndromic patients (approximately 25%). 20,21 Diagnosis may be difficult because the classic clinical features of raised ICP are often absent. Thus, the child’s development, in particular the acquisition of normal developmental milestones, vision, reading and language comprehension, motor skills, and general behaviour are important, and may require detailed specialist investigation, including ophthalmological assessment. Changes in visual-evoked potentials have been shown to be early indicators of raised ICP. 22,23 Plain skull films may show the classic ‘copper-beaten’ appearance of chronically raised ICP (Figures 19.2) but the absence of changes does not exclude raised ICP. 24 CT or MRI scanning may be helpful but, in cases where clinical assessment is equivocal, invasive ICP monitoring may be indicated, using either a traditional ICP monitor or, more recently, parenchymal fibre-optic transducers, which have been shown to be reliable as recorders of ICP and are associated with a low rate of complications. 20
Hydrocephalus Hydrocephalus is characterized by enlargement of the cerebral ventricles due to obstructed outflow of cerebrospinal fluid (CSF) somewhere along its path from the lateral ventricles, through the interventricular foramina, third ventricle, cerebral aqueduct, fourth ventricle and subarachnoid space to the sites of absorption. Hydrocephalus can occur in up to 20% of patients with craniosynostosis. It may be associated with chronic venous hypertension and hindbrain herniation, particularly in multisutural synostosis.
Differential diagnosis
Figure 19.1 3D CT scan of patient with scaphocephaly. Note the absence of sagittal suture.
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Not all abnormal head shapes are due to craniosynostosis, and accurate diagnosis is essential since the management of non-synostotic head shape abnormalities is non-surgical. The bones of the skull in early life are relatively soft and deformable, rendering the head susceptible to alteration in shape for a variety of reasons. Non-synostotic causes of abnormal head shape include intrauterine and birth canal moulding, assisted delivery (e.g.Ventouse), intracranial abnormalities and postnatal deformational forces on the growing skull due to external pressure on the head or to uneven muscle tension in the muscles attached to the skullbase.
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Figure 19.2 (a) Skull CT of a patient with raised ICP showing ‘copper beating’, treated with a shunt and undergoing distraction osteogenesis of the forehead. (b)Copper beaten bone shows indentation of underlying brain tissue.
Intrauterine, birth canal and assisted delivery moulding will be present at birth but improve fairly quickly. Intracranial abnormalities will present at birth but persist. Postnatal deformational changes are not present at birth, develop gradually and, if the cause is removed, will improve. This is in contrast to craniosynostosis, which is usually apparent at birth and progresses with growth. Diagnosis is usually possible based on the history and examination alone, but confirmation of the patency of sutures can be confirmed by plain radiographs or CT scan if needed. The most common presentation of non-synostotic abnormalities of head shape is occipital plagiocephaly. This is usually due to deformational or positional plagiocephaly. The incidence of deformational plagiocephaly has significantly increased since 1992 when the National Institute of Child Health and Human Development at the US National Institutes of Health advocated and encouraged infants to sleep on their backs/supine to reduce the risk of sudden infant death syndrome (SIDS). This, combined with prematurity or potentially a delay in the ability to hold one’s own head, may predispose a child to either symmetrical or asymmetrical flattening of the occiput. Other causes include abnormal head posture due to torticollis, vertebral abnormalities or ocular squint. Clinically, there is flattening at the back of the head, often with anterior translocation of the ear on the affected side and an element of frontal bossing. Unfortunately, this condition tends to develop quickly. The natural history of this is that it tends to self-correct but may take a number of years. There is the propensity to have a mild element of asymmetry but with the combination of self-correction and increase in hair length and thickness, it is seldom noticeable. There is no surgical intervention warranted for correction of this. Orthotic firms have advocated the use of corrective helmets but the evidence to support this is currently lacking and thus the costs must be borne by the family.
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General principles of surgical management of craniosynostosis The indications for surgery are prevention and/or treatment of raised ICP, correction of significant cosmetic deformity and prevention of future skull shape deformity (or skull normalization) by allowing normal growth to take place. Essentially this allows the normalization of skull deformities and treats the raised ICP which results from a craniocerebral misproportionation. The general principles of surgery for the craniosynostoses are to remove the cause by excising the affected suture, correct the existing deformity by reshaping the affected area of the cranium and moving it into the position it would have been in had it grown normally. This leaves an expanded intracranial volume, with a space between the dura and the repositioned bone, into which the brain can expand, thus relieving raised ICP if present. It also corrects the aesthetic deformity. Leaving a gap in the region of the excised suture, which will mimic a normal suture, should allow future growth to take place by movement of the bone in response to continued brain growth. Timing of surgery is important. Early surgery has the advantage that ICP is normalized without delay, and the deformity may be less severe since it has had less time to develop. However, early surgery may be followed by reossification at the site of the excised suture (restenosis), with a re-emergence of the condition requiring further surgery. The timing of surgery is therefore a balance between operating too early with the risk of restenosis and operating too late when there may be prolonged raised ICP, the deformity is greater and its correction may require more extensive surgery because of lack of future brain growth and, thus, capacity for skull remodelling in response to brain growth. Another factor which must be considered is that surgery results in a significant risk of moderate, and sometimes severe, blood loss. Lastly, consideration should be given to minimizing the potential risks of undertaking a general anaesthetic on the developing brain.25
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Major craniofacial surgery carries significant risks and complications, and a dedicated team familiar with all aspects of the management of these patients is a prerequisite for surgery to be performed. This will include a dedicated ward and theatre with appropriately trained staff, a paediatric anaesthetist and HDU/PICU facilities.
SINGLE-SUTURE NON-SYNDROMIC CRANIOSYNOSTOSIS Most commonly, patients present with fusion (or partial fusion) of only one suture. Currently, apart from coronal synostosis, there is little evidence to state that single-suture fusion is commonly due to a Mendelian genetic change.
Sagittal synostosis (scaphocephaly) With an incidence of approximately 1 : 4200–8500, 26, 27 sagittal synostosis is the most common form of craniosynostosis. Approximately 6% of cases of sagittal synostosis are familial, mostly transmitted as an autosomal dominant condition.8 The remaining cases are sporadic and at least a proportion are likely to have multifactorial aetiology, including genetic and environmental factors. The recurrence risk to a couple with a child affected by sagittal synostosis in the absence of a family history of the condition is approximately 2%.8 It is usually noted at birth for its elongated skull length but the phenotypical presentation varies depending on the ensuing skull growth in the first 18 months of life. The presentation includes a relatively long, slender skull shape and often a midline sagittal ridge, corresponding to the sagittal fusion. Various or all aspects of the suture may become fused, each giving a different presentation. From a frontal perspective, the child may have significant frontal bossing, an elevated hairline and bitemporal pinching. Posteriorly, an excessive occipital bullet may develop. There may also be a middle ‘saddle’ deformity. Various treatment regimes have been advocated and each unit will have their standardized technique. Depending on the age at presentation of the patient, a passive operation (including variations of strip craniectomy/ microbarrel staving/spring distraction) may be performed. Older children often undergo a total calvarial vault remodelling (TVR) which addresses all the compensated growth deformities that occur. We advocate a strip craniectomy and microbarrel staving passive procedure if we are able to perform the operation safely prior to 6months of age. If not, our patients undergo a TVR based on a modified Melbourne protocol at 12–18 months of age. 28
Unicoronal synostosis (frontal plagiocephaly) Unilateral/unicoronal or frontal plagiocephaly has an incidence of approximately 1 in 11 000.4,29 It has the most varied single-suture variation with both cranial and facial components. Cranially, this often presents with a retruded
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forehead and brow on the affected side, with a relative orbital dystopia (upwards on the affected side) due to the lack of anteroinferior growth secondary to the fused (or partially fused) coronal suture. Facially, this then translates into a deviated face, expressed most significantly with a facial and nasal twist towards the affected side. There may also be a maxillary and eventually mandibular cant develop and, probably most functionally importantly, strabismus or a squint may develop. One of the aims of treatment is to obviously minimize these effects.
Bilateral coronal synostosis (brachycephaly) Bicoronal synostosis is the most likely of all of the singlesuture synostoses to have a Mendelian genetic basis. 30 Genetic testing should be offered to all patients with coronal synostosis. Testing can include the mutation hot spots in FGFR1, FGFR2 and FGFR3, as well as full analysis of the TWIST1 and TCF12 genes. Approximately 8–15% of patients with non-syndromal coronal synostosis have a family history of the condition. A positive family history is seen more often in patients with bicoronal synostosis.7,26 Empiric recurrence risk to a couple with a child with coronal synostosis and no family history of the condition is 5%, although genetic testing should ideally be offered in order to provide a family-specific recurrence risk.7
Metopic synostosis (trigonocephaly) Traditionally thought to be the third most common form of synostosis, metopic suture fusion has over recent years seen a large increase in incidence.31 Between 5% and 10% of cases of metopic synostosis have been found to have a positive family history.9 The incidence of learning disability and other developmental problems (especially expressive speech delay) is higher in patients with metopic synostosis than with other singlesuture synostoses. This is at least in part due to the higher incidence of chromosomal copy number variants (CNVs) in patients with metopic synostosis. Suggestive features should therefore prompt detailed chromosomal analysis in patients with metopic synostosis, such as array comparative genomic hybridization (aCGH) studies. Environmental factors, such as exposure to teratogens during pregnancy, are a well-described cause of metopic synostosis. 32 Many cases are thought to be due to a combination of genetic and environmental factors. The empiric recurrence risk to a couple with a child with metopic synostosis with no known cause is 5%.9 Clinically, a wedge-shaped forehead typically ensues from premature closure of the frontal bones at the metopic suture. This prevents lateral growth of the frontal bones. This is combined with supraorbital recession and often hypotelorism, decreased interorbital and intercanthal distances. Children will often also develop wider parietal eminences due to compensated growth posterior to the fused frontal bone.
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Correction of metopic (trigonocephaly) and coronal (anterior plagiocephaly/brachycephaly) is usually by means of a fronto-orbital advancement and remodelling (FOAR) (Figure 19.3). Individual unit protocols vary, but our institution will usually correct this from 12 to 18months of age. Tessier33 originally described this procedure and it is now the mainstay for treatment of these conditions. It allows a conformational change of the forehead (and anterior cranial fossa) to take place, as well as allowing the anterior placement of the neo-forehead in order to increase the skull volume to minimize the risks of raised ICP. At the same time, the bifrontozygomatic width may be altered to correct the relative hypotelorism that ensues secondary to trigonocephaly. Conversely, this can be narrowed for patients with bicoronal synostosis. The procedure is carried out with the patient supine. A coronal flap is raised. The forehead is then removed. This is designed by selecting bone that may subsequently facilitate a neo-forehead to be created. Techniques vary between institutions but usually this is carried out as a bilateral procedure (even for unicoronal synostosis). This then allows access to the anterior cranial fossa. The supraorbital bar is removed, protecting the frontal lobes of the brain and the eyes and optic nerves. This supraorbital bar is then corrected and remodelled to an ideal shape, allowing the neo-forehead to be attached to this. The construct is then usually replaced in an advanced position (subsequently creating an increased skull volume) and usually attached by resorbable plate fixation.
Lambdoid synostosis Lambdoid synostosis has an incidence of only about 3% of craniosynostosis. A positive family history is rarely seen in patients with lambdoid synostosis and recurrence risks are low. 5
The diagnosis of lambdoid synostosis is dependent on history (usually present at birth), examination (a trapezoid head shape when viewed from above compared to a parallelogram in deformational plagiocephaly, an inferiorly and posteriorly situated ear – see Figure19.4) and radiologically (CT scan +/− 3D reconstruction). Treatment of lambdoid synostosis rarely involves surgery. The risk of raised ICP is low and, once covered by hair, the negative aesthetic element of this is often minimized. If the deformity continues to cause a significant aesthetic concern or raised ICP becomes evident, a vault remodelling is usually undertaken.
SYNDROMIC CRANIOSYNOSTOSIS It is estimated that there are over 500 different syndromes35 that have craniofacial anomalies. From a craniosynostosis syndromic point of view, the vast majority of these patients, though, are due to the conditions outlined below. These syndromes are thought to develop through an interaction of genetic factors, molecular and cellular events, mechanical and deformations forces and secondary effects of each of these on normal growth and development.
Crouzon syndrome Described in 1912 by a French neurosurgeon, this syndrome affects the face and cranium and occurs in 1 : 25 000 live births. Crouzon syndrome is characterized by craniosynostosis and maxillary hypoplasia with shallow orbits causing ocular proptosis. There is often bicoronal synostosis (brachycephaly) but occasionally the sagittal suture may also be affected. The main abnormality is an underdeveloped midface which results in prolapse of the globes (‘exorbitism’), hypoplasia of the malar bones, retromaxillism and a resultant
(a)
Figure 19.3 Fronto-orbital advancement surgery.
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(b)
Figure 19.4 Differences between positional and true lambdoid synostosis. Positional moulding(a) produces a parallelogramshaped head and the ear moves anteriorly on the affected side. Unilambdoid synostosis(b) produces a trapezoidshaped head and the ear moves posteriorly towards the affected suture.
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malocclusion (Figure 19.5). Anomalies of the middle ear and atresia of the external auditory canal may give rise to a conductive hearing loss. Abnormalities are usually confined to the craniofacial region although there may be systemic anomalies.4 Intelligence is usually normal. Crouzon syndrome is caused by mutations in FGFR2 and is autosomal dominant, although new mutations frequently arise. 29 The severity of this condition is extremely variable, even within the same family, and therefore a mildly affected parent may only be diagnosed after the birth of a more severely affected child. Severity may vary from a barely noticeable degree of proptosis and midfacial hypoplasia to, more rarely, cloverleaf skull.
Apert syndrome Described in 1906 by Apert, this syndrome has an incidence of 1 : 60 000 live births. Apert syndrome is caused by mutations in FGFR2; two-thirds of cases have the mutation Ser252Trp while the remaining one-third have the Pro253Arg mutation.36 There is an autosomal dominant pattern of inheritance although most cases of Apert syndrome occur without a family history as a result of new mutations and there is a link with advanced paternal age.37 The main features of this condition include craniosynostosis (usually bicoronal), abnormal midfacial development and fusion of the digits of the hands and feet (syndactyly) (Figure 19.6). Abnormalities of the midface and cranium are evident at birth, with brachycephaly and
(a)
midface retrusion causing an anterior open bite(malocclusion). Cleft soft palate or bifid uvula is present in 30% of cases. Fixation of the stapes footplate may cause a conductive hearing loss. There may be other associated malformations and intellectual ability may vary from normal to significantly impaired. 38
Pfeiffer syndrome First described in 1964, Pfeiffer syndrome is similar to Crouzon syndrome and is characterized by craniosynostosis and midfacial hypoplasia with shallow orbits. Additional features of Pfeiffer syndrome include broad thumbs and broad great toes. Severity of craniofacial anomalies can vary from mild midfacial hypoplasia to a cloverleaf skull (Figure 19.7). Coronal sutures are most commonly affected, with resultant brachycephaly. Other features may include skeletal anomalies such as fusion of the elbow joint, solid cartilaginous trachea and choanal stenosis or atresia. Three clinical or phenotypical subtypes have been suggested depending on the extent of associated features4 and there is some evidence for a genotype–phenotype correlation for some mutations. 39 Pfeiffer syndrome is caused by mutations in FGFR1 and FGFR2, in some cases the same mutations that can cause Crouzon syndrome.7, 40, 41 Inheritance is autosomal dominant although many cases arise as a result of new mutations. Intelligence varies from normal to mild learning difficulties, although central nervous system abnormalities may occur in severe cases.11
(b)
Figure 19.5 Crouzon syndrome.
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(a)
(b)
(c)
Figure 19.6 Apert syndrome. Note the brachycephaly and syndactyly.
Muenke syndrome
Saethre–Chotzen syndrome
This autosomal dominant condition is associated with unilateral or bilateral coronal synostosis and a variety of minor anomalies. The cause is a specific mutation of FGFR3, the Pro250Arg mutation.42 The phenotype this causes is extremely variable, even within the same family, and includes coronal synostosis, macrocephaly without synostosis, ptosis and minor anomalies of the hands and feet. Intelligence is usually within normal limits although learning difficulties, usually mild, may be present. The effect of the mutation may be so mild in some family members that they are unaware that they harbour a mutation. Genetic testing can be used to clarify their carrier status.
Saethre–Chotzen syndrome was first described in 1931. This is an extremely variable autosomal dominant condition, although abnormalities may be milder than in other syndromic craniosynostosis conditions. Because of this, a mildly affected parent may not be aware that they also have the condition until after their more obviously affected child is diagnosed. The most commonly affected suture is the coronal suture and the craniofacial abnormalities are frequently asymmetric. Associated features may include ptosis, a low anterior hairline, small ears with a prominent horizontal crus, mild cutaneous syndactyly and broad thumbs and great toes. Mutations in the gene TWIST1 cause Saethre–Chotzen syndrome but the phenotype has
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(a)
(b)
Figure 19.7 Pfeiffer syndrome. Note the bulging temporal region, turricephaly, retruded midface and tracheostomy.
also been seen in association with the Pro250Arg mutation in FGFR3 and with TCF12 mutations.43–45
TCF12 Mutations in the TCF12 gene are a recently identified and common cause of coronal synostosis affecting 10% of patients with unicoronal synostosis and 32% of those with bilateral synostosis, occasionally with additional sagittal involvement. Some patients have features consistent with Saethre–Chotzen syndrome, such as syndactyly, but with negative TWIST1 analysis.45 This is consistent with the fact that the TCF12 and TWIST1 proteins have been shown to interact.45,46 Most patients have isolated coronal synostosis with no additional features. A minority of patients with developmental delay, a learning disability or autism have been described but the majority have normal development and educational attainment.45
Craniofrontonasal syndrome This condition is characterized by craniosynostosis which is usually coronal, frontonasal dysplasia, curly or frizzy hair, sloping shoulders and ridged nails. As part of the frontonasal dysplasia there is hypertelorism, a broad nasal bridge and, occasionally, a bifid nasal tip. There may also be skeletal anomalies such as joint hyperextensibilty, scoliosis and broad toes. Mutations in the gene EFNB1 are causative.47 The inheritance is X-linked dominant whereby females are more severely affected than males.
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Carpenter syndrome Carpenter syndrome is a very rare autosomal recessive condition characterized by craniosynostosis, which may affect all sutures causing a cloverleaf skull, and also polysyndactyly (accessory digits with fusion of the digits) and brachydactyly (shortened digits). Mixed hearing loss may also occur. Patients may have obesity and may show learning difficulties.48 The causative gene has been identified as RAB23.49
Kleeblattschädel anomaly (cloverleaf skull) This describes a trilobar skull and is usually caused by pansynostosis involving the coronal, lambdoid and metopic sutures, with bulging of the brain through open sagittal and sometimes squamosal sutures. The prognosis is often, but not universally, poor. Cloverleaf skull is a non-specific anomaly and may be an isolated defect or part of wider syndromes. As such, the aetiology of cloverleaf skull is varied. It may be seen in patients with certain chromosomal abnormalities or be a feature of syndromes such as Pfeiffer, Apert, Crouzon and Carpenter.
MANAGEMENT OF SYNDROMIC CRANIOSYNOSTOSIS The aim of cranial management for syndromic craniosynostosis is similar to non-syndromic craniosynostosis. Primarily, it is to prevent or manage the raised intracranial
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pressure that is synonymous with these conditions and to normalize the skull shape and morphology. Prior to this, though, various other factors will need to be addressed. Initially, this will include airway management, feeding and eye protection. Other comorbidities (e.g. cardiac/ renal/respiratory systems) may require investigation and correction. Imaging is essential and CT brain and MRI spine and brain scans are routinely performed. In addition, support of feeding, speech and language and psychological needs is ensured by regular surveillance and input as required.
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Airway
Figure 19.8 MRI scan showing a child with Crouzon syndrome with significant tonsillar herniation below the foramen magnum. Bicoronal synostosis has resulted in asignificant brachycephaly deformity resulting in decreasedposterior cranial fossa volume and a cramped cerebellum.
(a)
Respiratory problems may be central or peripheral. Central apnoeas may be related to a Chiari malformation and/ or to raised ICP (Figure 19.8). An MRI must always be performed as part of a routine imaging series. More commonly, respiratory problems are secondary to obstruction, with reports of 40–83% of children being affected with obstructive sleep apnoea (OSA).50 Causes of obstruction in syndromic craniosynostosis are multilevel but include congenital bony nasal stenosis (CBNS) (Figure19.9a), choanal atresia, nasopharyngeal narrowing, a crowded or narrow oropharynx, a thick long soft palate, subglottic stenosis, tracheal stenosis and tracheal cartilage sleeve. CBNS is caused by 3D hypoplasia of the maxilla, leading to narrowing of the nasal passages along their length. In addition, raised ICP can result in compromised neuromuscular control of airway patency. 50
(b)
Figure 19.9 (a)CT scan showing congenital bony nasal stenosis (CBNS). (b)A child with Apert syndrome and CBNS managed with a nasopharyngeal airway (NPA).
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CBNS and choanal atresia, particularly if bilateral, require treatment shortly after birth. Management options include dilatation with or without stenting, nasopharyngeal airways (NPAs), positive pressure ventilation using masks (non-invasive) and tracheostomy. The choice of modality is based upon a number of factors including a full airway assessment, other comorbidities geographical location, and facilities for follow-up and support and parental choice. Dilatation and NPA insertion has been shown to be a successful first-line management option in the majority of patients (Figure19.9b).51 An NPA has the advantage over a stent of bypassing the narrow nostril but also the narrow nasopharynx and possibly the long thick soft palate. An NPA is required for 2–48months. Carers and parents have to undergo training and demonstrate competency in managing the NPA after discharge from hospital.52 Parents prefer management with an NPA compared to a tracheostomy.53 Positive pressure ventilation might be required either instead of or in addition to NPAs and other surgical interventions. Nasal continuous positive airway pressure (CPAP) using a mask has been found to be beneficial in a number of these patients, although fitting of the mask onto a retruded maxilla or a hypoplastic midface can be a challenge. Adenotonsillar hypertrophy may contribute to ongoing obstructive symptoms and patients should be monitored for this. Although adenotonsillectomy as a treatment modality for OSA is less successful than in the general population, improvements – either symptomatic or on polysomnography (PSG) or both – are seen in up to 60% of patients. Cleft palate is a common finding in patients, particularly with Apert syndrome. A cleft palate or submucous cleft is no longer an absolute contraindication to adenoidectomy. With good visualization techniques, an inferior ridge can be left behind to enable palate–pharyngeal apposition. Patients should be monitored both clinically and with PSG to detect severity of OSA, and early investigation and intervention is advocated. The frequency of surveillance PSG is to be determined on an individual case-by-case basis. Frequent sleep studies will often be undertaken to determine the level and severity of instruction.
(a)
Midface advancement surgery has variable effects upon upper airway obstruction. There are some reports of very successful outcomes of early midface advancement surgery in terms of decannulation or avoiding the need for a tracheostomy54 while other reports are less positive. 55 In the authors’ unit, there is generally an improvement in subjective and objective measures of OSA following midface advancement but not always sufficient to enable decannulation and/or discontinuation of CPAP. Tracheal anomalies might also contribute towards airway obstruction in syndromic craniofacial patients. FGFR2 syndromes such as Crouzon, Pfeiffer and Beare–Stevenson syndrome are associated with an abnormality of the trachea known as ‘tracheal cartilaginous sleeve’.56 This is a malformation in which individual tracheal arches are not formed. There is a continuous tracheal cartilaginous piece composed of a vertically fused C- or O-shaped cartilage. This might extend from the level of the subglottis down to the bronchi. When the cartilage is C-shaped, the pars membranacea is often notched posteriorly, giving the appearance of a keyhole.57 Respiratory problems occur as a result of the reduced calibre and the reduced compliance of the trachea. Premature death occurs in almost all patients with this abnormality but a tracheostomy appears to offer a survival advantage. A tracheostomy will be more challenging to perform. Because of the rigidity of the trachea and the absence of rings, it may be necessary to cut a window rather than a vertical slit as is more common in paediatric tracheostomies. As the sleeve trachea causes narrowing, it might be necessary to select a tracheostomy tube with a smaller diameter than might be expected for age. Post-operatively, these children are more susceptible to granulations related to trauma from suction (Figure19.10). This is managed by using a shorter tracheostomy tube in order to avoid the end abutting on the abnormal ends of the C-shaped cartilage. In addition, topical application of steroids, regular attention to the ‘granulomas’ and education of carers with regard to suction help minimize the impact of these ‘granulomas’. Nevertheless, they are a cause of significant morbidity and mortality in this group of patients. Tracheostomy may be required either as a short-term solution, for instance to cover a surgical procedure perioperatively (e.g.midfacial advancement), or as a long-term
(b)
Figure 19.10 (a) Keyhole-shaped tracheal abnormality in Pfeiffer syndrome. (b)The same trachea with granulation s econdary to trauma from suction. (Images courtesy of MsM.Wyatt, Consultant Paediatric ENT surgeon, Great Ormond Street Hospital, London).
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airway solution. Because the airway obstruction in these children is multilevel, a combination of approaches is required to optimize the airway. Ultimately, if these are not successful, a tracheostomy may be the safest approach.
Visual considerations Due to both restriction of anterior frontal bone growth and midfacial hypoplasia, exorbitism (decreased orbital volume/ capacity) often results. This can range from simple exorbitism with complete soft-tissue eye protection to dislocation (with or without reduction) or complete ocular exposure. Corneal abrasions are not uncommon in this situation. Early ophthalmological assessment is imperative. Education for the family on globe reduction may be required and potentially surgical intervention (tarsorrhaphy) may be indicated. Regular fundoscopy assessments are also mandatory to establish if raised ICP is present. Papilloedema, optic atrophy and progressive optic nerve dysfunction may accompany raised ICP. Uncorrected refractive effort, strabismus, ptosis and corneal abrasion can lead to amblyopia, potentially causing permanent visual disability if not identified and corrected.
Intracranial pressure The mainstay of cranial surgery for syndromic craniosynostosis has been in the attempt to increase the intracranial volume, and thus control intracranial hypertension, while at the same time normalizing the head shape and thus improving the patient’s overall appearance. 58 Without treatment, both visual and neurological deterioration may result. In addition to craniocerebral disproportionation, raised ICP in syndromic craniosynostosis can be influenced by venous hypertension, OSA and hydrocephalus. As the most common cause of raised ICP is craniocerebral disproportionation, vault remodelling is intended to address this. Initially, especially for brachycephalic patients or bicoronal synostosis, a suturectomy or posterior vault expansion is advocated. 59
Role of CSF diversion Ventricular dilatation is a rare occurrence in non- syndromic craniosynostosis and in such cases hydrocephalus, if noted, is attributable to any coexisting disorder. However, it is a common feature of syndromic craniosynostosis and seen in nearly half the cases.60 While non-progressive ventriculomegaly is seen commonly in Apert syndrome, it seldom requires CSF diversion. On the contrary, in Crouzon and Pfeiffer syndrome, ventriculomegaly is progressive and requires CSF diversion in most cases, despite early posterior vault expansion procedures. Patients with Saethre–Chotzen and Muenke syndrome are seldom affected by hydrocephalus. The etiology of hydrocephalus is multifactorial: crowded posterior fossa , venous outlet obstruction and increased CSF outflow resistance are the commonest explanations.60 The multifactorial nature of the problem is confirmed by
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the fact that, despite posterior vault expansion, a significant proportion of cases end up needing a shunt placement for progressive ventriculomegaly. The options in terms of CSF diversion are limited to insertion of a ventriculoperitoneal (VP) shunt. Special precautions have to be taken to avoid shunt overdrainage as excess CSF shunting will lead to worsening of pre-existing venous hypertension (pseudotumour state). The authors recommend the use of a programmable shunt valve with inbuilt antisiphon device to obviate this problem. In the authors’ experience, there is a very limited role for endoscopic third ventriculostomy (ETV) for CSF diversion. We have carried out ETV in a small number of cases with moderate ventriculomegaly post posterior vault expansion procedures in patients with subtle clinical and ophthalmological symptoms and signs of raised ICP. However, the default option for CSF diversion for hydrocephalus in syndromic craniosynostosis is insertion of a VP shunt with a programmable shunt valve with an inbuilt antisiphon device. In our experience, the incidence of shunt infection and ventricular catheter blockage are higher in syndromic craniosynostosis, as are other shunt-related complications because of the associated problems of feeding, airway obstruction, frequent chest infections and progressive craniocerebral disproportion in these cases.
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Cranial surgery for syndromic craniosynostosis If the posterior vault size and shape is satisfactory, a fronto-orbital advancement and remodelling (FOAR) is performed61 which both increases the volume of the skull and allows a conformational change or normalization of skull shape. Timing of this procedure varies depending on the individual institution’s protocol. We will usually operate when the child is 12–18months of age. This balances the risk of developing raised ICP if surgery is performed at a delayed stage against the risk of restenosis if the procedure is performed too early. Unfortunately, this is seldom the case and most patients will undergo a number of procedures. In our institution, depending on the severity of the craniosynostosis, a suturectomy will usually be performed. This allows continual skull growth and expansion with minimal shape deformities. This is usually only a short term measure, however, as most syndromic patients have a ‘pro-ossification’ genetic change and, as a consequence, the sutures will often re-fuse. Therefore, a posterior vault expansion is usually undertaken. This utilizes internal distraction devices to increase the posterior vault. It is only after the posterior vault is corrected/normalized that we address the forehead.
Midface advancement surgery for syndromic craniosynostosis Midface advancement surgery is indicated to attempt to improve the airway in order either to avoid the need for non-invasive ventilation or a tracheostomy or to remove
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dependence upon such a modality. However, outcomes of this procedure in terms of the airway are somewhat variable and unpredictable. Apart from the airway, the main indication for midface advancement surgery is to normalize appearance. Timing of surgery to the midface is a matter of debate. In the UK, surgery is usually delayed until the age of 5–6years, or older, prior to the child starting secondary education. This delay is intended to allow growth of the child so that their weight increases, as does the circulating blood volume. Midface surgery often results in significant loss of blood volume, with much of the haemorrhage not directly amenable to local control. The type of surgery is dictated by the pattern of the deformity. There are three basic operations available. 1. The Le Fort III osteotomy involves advancement of all midfacial structures inferior to the frontal bone, i.e.nose, zygomas and maxilla en bloc. This requires a bicoronal flap for access to the nasal root, orbits and zygomatic bones and osteotomies of the nasal root, medial orbital walls, orbital floor, lateral orbital wall, frontozygomatic suture and pterygomaxillary complex. This allows mobilization of the midface. Internal fixation and bone grafts may be used to ensure satisfactory healing and stability. Due to the potential issues with achieving adequate advancement, however, this procedure is usually performed by distraction osteogenesis and a rigid external distractor (RED) frame now (see below). 2. Where midface hypoplasia is associated with hypertelorism, a facial bipartition may be carried out. It essentially involves a Le FortIII osteotomy to advance the midface and excision of a V-shaped segment of bone from the midline, creating two independent hemifacial segments, which can then be brought together to reduce the interorbital distance. 3. A monobloc procedure involves advancement of the forehead and midface at the same time by combining a Le FortIII procedure with FOAR. See also ‘Distraction osteogenesis’, below.
Distraction osteogenesis Conventional surgery involves osteotomy, mobilization and bone movement at one operation. Bone grafting and internal fixation are required to ensure healing and stability and to prevent relapse. This has the advantage of completing treatment at one operation. However, where the required bone movement is large (e.g. greater than 10 mm in the midface) or there is significant scarring of surrounding soft tissues (e.g.cleft or multiply operated patients), the desired movement may be difficult or impossible to achieve. There is also the risk of infected dead spaces (between the neoforehead and dura) in monobloc procedures due to thecommunication between the intracranial contents and the nasal commensal flora. The alternative of using distraction osteogenesis can be utilized to overcome these difficulties.
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Figure 19.11 Distraction osteogenesis with a RED frame (KLS Martin RED Frame). The procedure is a craniofacial disjunction. The base of the skull is separated from the orbits/nasal bones/ maxilla and underlying structures. After ensuring mobilization of these structures, titanium plates are usually secured to the nasal piriform and infraorbital region and percutaneous wires are secured to the RED frame. Progressive distraction is then commenced over the next week. The benefit of this procedure is that it allows growth of the bone as well as allowing softtissue expansion.
Distraction osteogenesis (DO) involves initial osteotomy, ensuring complete separation of bony segments, without mobilization or advancement, and application of an internal or external distraction device (e.g. RED frame), which is activated after a 1-week latent period and produces a movement of 1 mm per day. This allows gradual adaptation of a surrounding soft-tissue envelope, as well as osteogenesis within the osteotomy gap, allowing for greater movements without the need for bone grafting or internal fixation. Once the desired movement has been achieved, the distractors are left in situ for a further a period of two to three times the activation phase to allow consolidation of the newly formed bone. Distraction therefore has the advantage of being able to produce larger movements without the requirement for bone grafts or internal fixation. The disadvantages are that the treatment is prolonged, the patient has to tolerate the distraction devices, and a second operation is often required for distractor removal. In most craniofacial patients, the advantages of distraction outweigh the disadvantages compared with conventional surgery and therefore the majority of midface advancements are now carried out using distraction (see Figure19.11).
COMPLICATIONS OF CRANIOFACIAL SURGERY Blood loss Infants have a small absolute blood volume and there may be appreciable sudden haemorrhage, in particular from the cerebral sinuses. Blood loss varies with the timing and extent of the surgery. In a simple suture release, blood loss is in the region of 100 mL. Blood transfusion is not uncommon for
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infants undergoing this surgery and for older children having more extensive procedures. Risk of viral or bacterial transmission is low but the consequences are potentially devastating. Avoiding transfusion is not always possible but, provided the intravascular volume is maintained, then patients can tolerate low haemoglobin levels.62,63 The combined data of the NHS Designated Craniofacial Units reports approximately 75–85% of patients will require a blood transfusion per fronto-orbital advancement. Usually, this is due not to torrential bleeding but to the accumulation of mild ongoing losses from a prolonged procedure. Routinely, autologous blood recovery systems are used to minimize this, along with the use of relative hypotensive anaesthesia and utilization of tranexamic acid.
Air embolism A major danger in craniofacial surgery is ingress and embolization of air through the circulation. This can occur at any stage during surgery, from inserting large-calibre central lines, raising a scalp flap or opening into the major sinuses. In anticipation of blood loss and air embolization, arterial and central venous lines are routinely used with a number of peripheral lines. A significant air embolism may result in hypotension, bradycardia and cardiac arrest. The highest risk occurs during elevation of the bone off the dura and preventative strategies are used to minimize this.
Cerebral oedema All measures should be taken to avoid cerebral oedema. Positioning the patient correctly, ensuring correct endotracheal tube positioning and maintaining the correct intravascular fluid replacement are all vital. There should be minimal brain retraction and handling, particularly in cases of pre-existing raised ICP as this predisposes the patient to developing cerebral oedema. In many cases the use of systemic steroids (e.g.dexamethasone) may be useful in minimizing cerebral oedema.
Dural tear Craniofacial operations such as suturectomy and vault expansion are essentially extradural procedures. In certain circumstances, for example repeat surgery or when ‘copper beating’ of the inner table of the skull is present, it may be impossible to avoid tears of the dura mater. The distorted anatomy must also be kept in mind and revision of pre-operative scans is imperative. Usually, small incidental tears are simply sutured closed and reinforced with fibrin glue. Larger tears may require dural grafting or formal repairs with the use of a patch.
CSF fistula Cerebrospinal fluid leak is uncommon but will take place if a dural tear is not either recognized or adequately repaired. CSF can then leak through the scalp wound or, perhaps more commonly, leak into the nose and present as CSF rhinorrhoea. Often this is transient, lasting a few
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days and sealing spontaneously. Intra-operatively, it may be beneficial to perform a brief Valsalva manoeuvre in the attempt to identify any CSF (or blood) leaks. Obvious fistulae that fail to resolve must be treated. Of more concern are those that persist unnoticed and lead to infection or meningitis at a later date.
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Infection Infection can occur, particularly in cases involving communication with the paranasal sinuses, and result in meningitis, intracerebral abscess or subdural empyema. Chronic infection can also manifest as lost bone graft or implants. Post-operative infections are treated aggressively with systemic antibiotics and local debridement, with the attempt to preserve the bone flaps at all costs.
Intracerebral/subdural haematoma Haematoma can present in the early post-operative phase with unexpected signs of raised ICP or ‘lateralizing’ signs.
Blindness Surgery around the optic apex and skull base has the potential to damage the optic nerves or tracts. In particular, hypertelorism procedures and monobloc midfacial advancement carry a risk to these structures but all patients (and parents) must be informed and consented on this. Post-operative strabismus may also occur and regular ophthalmological assessments must be performed.
Restenosis The aim of much cranial vault surgery is to release the prematurely fused sutures, thereby allowing unimpeded brain growth. The gaps created gradually ossify. Occasionally, premature restenosis takes place, and with continued brain growth there is a rise in ICP. This tends to happen more commonly in syndromic craniosynostosis than in non-syndromic cases. Saethre–Chotzen patients have a high incidence of reoperation for craniocerebral disproportionation.64 The potential for reossification declines with increasing age of the child (as rapid cerebral growth minimizes). In children over 1–2 years of age large bony defects of the skull vault may not close entirely. In some cases it is necessary to repair these defects using a split calvarial bone switch procedure at a later time.
HEMIFACIAL MICROSOMIA/OAVS Gorlin et al.65 and Beleza-Meireles et al.66 suggested the term oculoauriculovertebral spectrum (OAVS) as a combined definition encompassing the overlapping diagnoses of hemifacial microsomia, first and second branchial arch syndrome, otomandibular dysostosis, facioauriculovertebral syndrome and Goldenhar syndrome.
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210 Section 1: Paediatrics TABLE 19.3 Vento’s 1991 OMENS classification of oculoauriculovertebral spectrum (OAVS) Aspect
Involvement
Orbit O0
Normal orbit and position
O1
Abnormal orbital size
O2
Abnormal orbital position
O3
Abnormal orbital size and position
Mandible
Boys are three times more commonly affected than girls.11
Classification Vento et al.68 proposed the classification ‘OMENS’ (and OMENS-plus) to address the craniofacial aspects of OAVS (Table 19.3). O – Orbit/orbitozygomatic69 M – Mandible – Kaban-modified,70 Pruzansky classification71 E – Ear – Meurman,72 modified Marx classification N – Nerve (specifically facial nerve CN VII) S – Soft tissue
M0
Normal mandible
M1
The mandible and glenoid fossa are small with a short ramus
M2
The mandibular ramus is short and abnormally shaped
M2A
Glenoid fossa is in anatomically acceptable position with reference to the opposite TMJ
Clinical diagnosis
M2B
TMJ is inferiorly, medially and anteriorly displaced, with severely hypoplastic condyle
M3
Complete absence of ramus, glenoid fossa and TMJ
The most striking feature of OAVS is the facial asymmetry that ensues from the involvement of the first and second branchial arches. This will usually be portrayed by a deviated chin point and subsequent dental malocclusion and/ or orbital malpositioning (Figure19.12). As OAVS (or ‘OMENS-plus’), has extracranial features, these should be investigated to rule out any other associated conditions. Vertebral anomalies should be looked for and investigated. A renal ultrasound and echocardiogram should also be performed to rule out renal and cardiac (e.g. tetralogy/ventricular septal defect or atrial septal defect/patent ductus arteriosus) concerns. Orbit and orbitozygomatic involvement may vary from orbital and zygomatic malpositioning, micro- or anophthalmia, and epibulbar dermoids. Ear deformity occurs in up to 95% of affected individuals.73 Half of these will usually present with microtia. Associated hearing loss depends upon the development of the external auditory meatus and the middle ear. Hypoplasia of the middle ear with fusion or absence of the ossicles may occur (see Chapter 12, Congenital middle ear
Ear E0
Normal ear
E1
Mild hypoplasia and cupping with all structures present
E2
Absence of external auditory canal with variable hypoplasia of the concha
E3
Malpositioned lobule with absent auricle; lobular remnant usually inferiorly and anteriorly displaced
Facial nerve N0
No facial nerve involvement
N1
Upper facial nerve involvement (temporal and zygomatic branches)
N2
Lower facial nerve involvement (buccal, mandibular and cervical branches)
N3
All branches of the facial nerve affected. Other cranial nerves included
Soft tissue S0
No obvious soft tissue or muscle deficiency
S1
Minimal subcutaneous / muscle deficiency
S2
Moderate – between the two extremes – S1 and S3
S3
Severe soft tissue deficiency due to subcutaneous and muscular hypoplasia
OAVS is usually a sporadic condition. Multiple theories have been put forward to try to explain the aetiology but it is likely to be a multifactorial condition due to varying combinations of genetic and environmental (including teratogenic) factors. Rare cases (fewer than 1%) may be due to a mutation in the recently identified MYT1 gene.67 Traditionally thought to have only a unilateral involvement, there is a small subset of those (around 10–25%) who are affected bilaterally. The phenotypical presentation, however, is usually different from left to right when this occurs.
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Figure 19.12 Child with OAVS. Note the asymmetry and abnormal pinna.
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abnormalities and Chapter 16, Microtia and external ear A. N. Samadpour and H. Merrikh abnormalities). Neuromuscular deficiencies involve the facial and trigeminal nerves, with hypoplasia or absence of masticatory muscles and/or muscles of facial expression. There is facial weakness in approximately 12% of patients50 and, more rarely, other cranial nerves may be involved. Softtissue asymmetries are partly related to hypoplasia of the masticatory and facial muscles, but other tissues such as salivary glands may be absent.
Aetiology
Management
Clinical manifestations
Management is aimed at addressing each individual component of the classification. This will obviously involve a MDT for the extracranial components. Treatment regimes are similar to all syndromic craniofacial patients with airway protection or establishment, eye protection and feeding as the initial priorities. Hearing assessment soon follows. After this, assessment of mandibular function and the establishment of a ramal–condyle unit will take place. Ear deformities may be corrected by prostheses or autologous reconstruction. Facial nerve procedures will vary depending on the extent of the involvement. Eventually, corrective orthognathic surgery and soft-tissue balancing procedures may be undertaken to minimize the stigmata of the condition. This may be in the patient’s late teenage years. Throughout the entire treatment period, regular ophthalmological assessments are required.
The palpebral fissures may be down-slanting, with colobomas of the lower eyelid and eyelash/follicle malformations being common. A hypoplastic midface with poorly developed or absent zygomas, associated with mandibular hypoplasia, results in a very characteristic facial appearance (Figure 19.13). The mandibular hypoplasia might be severe enough to cause significant upper airway obstruction. Features are bilateral and often symmetrical. The difficulties in both intubation and treatment that arise are due to a steep occlusal plane angle (of both the maxilla and the mandible), often dental crowding, and significant retrognthaia of the mandible. Therefore the chin point is rotated in a clockwise direction towards the larynx/trachea (Figure19.14). Bilateral ear abnormalities including hypoplasia, microtia or anotia, hypoplasia or atresia of the external auditory meatus, middle ear anomalies and associated hearing defects are common. Inner ear function is usually unaffected leading to a conductive hearing loss. There is cleft palate in 35% of cases.
TREACHER COLLINS SYNDROME (MANDIBULOFACIAL DYSOSTOSIS) Treacher Collins syndrome (otherwise known as mandibulofacial dysostosis) is characterized by the absence or hypoplasia of the zygomatic bones, eyelid abnormalities and mandibular hypoplasia and microtia (see Chapter 16).
Unlike hemifacial microsomia, Treacher Collins syndrome is an autosomal dominant condition, although approximately 50% of cases have no family history and therefore represent new mutations. Its incidence is approximately 1 : 50 000 live births.74 Severity is very variable and other family members may be very mildly affected. Intelligence is usually normal. Treacher Collins syndrome is caused by mutations in the gene TCOF1.75
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Management Management of the airway in the neonate is required to overcome respiratory obstruction associated with
Figure 19.13 Treacher Collins. Abnormalities of zygomatic bones, ears, eyelids and mandible. Note the tracheostomy.
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(a)
(b)
(c)
(d)
Figure 19.14 (a)Combination distraction osteogenesis allowing for lengthening of the mandible and rotation of the maxilla–madibular plane angle (by use of a nasion cerclage wire and traditional rigid external distraction to correct the occlusal plane). Image © Dr Richard Hopper MD. (b)Pre-operation. Steep mandibular occlusal plane angle with vertical mandibular growth pattern resulting in reduced retroglossal airway space. (c)Active distraction phase with combination RED (rigid external distractor) frame and mandibular distraction. (d)Postoperative 3D CT showing significant change in pogonion (chin point), normalization of occlusal plane angle and dentition. Calvarial onlay grafts used to reconstruct hypoplastic zygomatic arches. Photographs courtesy of Dr Richard Hopper MD, Seattle, Washington.
mandibular hypoplasia or choanal atresia. Early feeding difficulties may also need to be addressed. Further management may include repair of cleft palate, provision of bone-conducting hearing aid followed by a bone-anchored hearing aid, and close monitoring and intervention for speech and language development. Eyelid abnormalities may need surgical correction, hypoplastic or absent zygomas may be reconstructed, usually using calvarial bone grafts or alloplastic onlays, and mandibular deficiency can be corrected with conventional osteotomies
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or distractionosteogenesis (see Figure 19.14). Distraction techniques allow for both lengthening of the mandible in an AP direction (which addresses both the retrognathia and sometimes dental crowding) and, when combined with traditional osteotomies of the maxilla, rotation of the maxillomandibular complex in an anticlockwise direction. The latter addresses the occlusal plane and allows elevation of the chin point in a superior–anterior vector, in the hope to increase the retroglossal airway space as well as normalizing the bony skeleton and soft tissues.
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ENCEPHALOMENINGOCOELE Encephalomeningocoele represents a herniation of meninges with or without associated brain tissue, through a bony defect of the calvarium. They are a congenital anomaly representing one end of the spectrum of neural tube defects. Its diagnosis is based on the finding of either meninges and CSF (meningocoele) or nervous tissue (encephalocoele) beyond the confines of the calvarium. The incidence of encephalocoele is reported to be as high as 1 : 3000 live births in South East Asia and as low as 1 : 10 000 live births in North America.76
Aetiology Encephalocoeles may be isolated or associated with other anomalies.When other problems coexist, causes include chromosomal abnormalities, single gene disorders, teratogens and disruptions such as amniotic bands. The primary abnormality in the development of an encephalocoele is a mesodermal defect that develops when the surface ectoderm fails to separate from the neuroectoderm. Thisresults in a defect in the calvarium and dura. Within the calvarium itself there may be failure of bone formation or pressure erosion
from expanding intracranial contents. The aetiology of isolated cases is thought to be multifactorial, with both genetic and environmental factors playing a part. The widespread use of folic acid prior to conception and during pregnancy aims to reduce the frequency of neural tube defects in the general population. After the birth of an affected child, the use of high-dose folic acid prior to and after conception is recommended for subsequent pregnancies.77
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Diagnosis Detailed imaging is required for any nasal mass in the neonate prior to biopsy since anterior encephalocoeles may be confused with dermoids, neurofibromas and teratomas. Investigations may include an MR scan demonstrating a mass with intracranial connection and a CT scan demonstrating a bony defect in the calvarium (see Figure19.15 and Chapter23, Neonatal nasal obstruction).
Classification and treatment There are various classification systems for encephalocoele, based on the contents of the sac, site of the swelling, location of the skull defect and whether the swelling is
(b)
(a)
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Figure 19.15 (a) MRI T2-weighted image of frontoethmoidal encephalocoele. Note the hypertelorism. (b)MRI-STIR TSE showing frontoethmoidal encephalocoele.
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overt or occult. The most commonly applied system is that relating to the location of the cranial defect. Encephalocoeles are classified as vault encephalocoeles and basal encephalocoeles based on their location in relation to vault and base of the skull. They are further subclassified as anterior (or sincipital) encephalocoeles and posterior (or occipital) encephalocoeles.
ANTERIOR ENCEPHALOCOELES Anterior encephalocoeles have been studied extensively by Suwanwela.78 Mahapatra further classified anterior encephaloceles79 as follows: A. Frontoethmoidal group i. Nasofrontal ii. Nasoethmoidal iii. Nasoorbital B. Transethmoidal–nasopharyngeal C . Transorbital D. Transsellar–transphenoidal E. Interfrontal (transmetiopic) F. Anterior fontanelle The commonest clinical presentation is swelling at the root of the nose, hypertelorism and nasal obstruction. Rare presentations are a leaking encephalocele and even with overt meningitis. MRI of the brain and spine is the investigation of choice not only to define the lesion but also to identify associated anomalies of the entire central nervous system. Common associated anomalies are agenesis of the corpus callosum (15%), cortical dysplasia (5%) and hydrocephalus in as high as 20% of the cases.79 CT with fine bone slices is used to define the bony defect and to better plan the bony/ soft-tissue repair. Basal encephaloceles (transethmoidal–nasopharyngeal, transphenoidal) have been at times mistaken for skull base lesions/tumours and biopsied, causing a surgical emergency in the process with CSF leak and meningitis. Treatment The frontoethmoidal group of encephalocoeles are managed through a bicoronal incision and craniotomy of the frontal bone and orbital bar in order to expose the neck of the encephalocoele. The neck is defined and incised to expose the contents (mainly gliotic brain). The neck is transected and repaired using dural graft. Though onestage repair of encephalocele and correction of hypertelorism is practised by some centres around the world, our usual practice is to do a two-stage repair and defer the correction of the hypertelorism to a much later date once the upper facial growth is deemed to be complete. The commonest post-operative complication is the development of CSF leak and hydrocephalus, which may necessitate insertion of a VP shunt in as many as 15–20% cases. Both open and endoscopic modalities of treatment have been proposed. The recent development of endoscopic
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transnasal techniques has allowed the repair of these unique lesions in a minimally invasive manner as a joint neurosurgery–ENT procedure. The technique differs from the standard transcranial approach as the fundus of the encephalocoele is encountered first and the neck later. The sac of the encephalocoele sac is reduced in size with the help of cautery and the contents removed or replaced intracranial before the neck of the encepholocoele is encountered and transected. The authors’ usual practice is the use of fascia lata and autologous fat to repair the skull defect and buttress the repair with a lumbar drain for a minimum of 5days.
POSTERIOR ENCEPHALOCOELES Vault encephalocoeles can vary greatly in size from being just a tiny skin blemish in the midline (cephalocoeles) to giant encephalocoeles. Large posterior encephalocoeles can present with difficult delivery because of their size, which can be at times giant (e.g.the size of the encephalocoele bigger than the size of the baby’s head).80 Cephalocoele is often associated with venous anomalies such as vertical embryonic positioning of the straight sinus, splitting of the superior sagittal sinus, vein of Galen elongation, along with tenting of the tentorium.81 Treatment Surgical management is primarily necessary where there is a risk of infection through communication of the lesion with the intracranial space or of rupture, or for cosmetic purposes. Surgical excision is curative in the majority of the vault encephalocoeles. Good pre-operative assessment of the venous sinus anatomy in relation to the lesion is useful in preventing serious vascular damage. Giant encephalocoeles require semi-elective excision for fear of rupture and CSF leak and also to facilitate baby care and positioning in the cot. In the post-operative period more than 50% develop hydrocephalus and require VP shunt insertion. Associated secondary Chiari malformation and secondary sutural synostosis may require further treatment.
Prognosis A significant percentage of the children who undergo repair of encephalocoeles will face growth, development and learning challenges and will require long-term followup in order to address these issues. Outcome for treated anterior encephalocoeles tends to be better than occipital encephalocoeles, with figures as low as 4 of 65 with longterm intellectual impairment.76
CRANIOFACIAL CLEFTS A craniofacial cleft happens as a result of a failure of fusion of the various embryonic processes from which the craniofacial complex is formed. The exact incidence of craniofacial clefts is not known but can be estimated to be approximately 2 : 100 000 live births.82
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Aetiology The interplay of hereditary and environmental factors is complex and with few total cases is yet to be elucidated in detail. The majority of craniofacial clefts occur sporadically. Many factors have been implicated in the formation of craniofacial clefts, including drugs (e.g. anticonvulsants, corticosteroids and chemotherapeutic agents), radiation, infection, amniotic bands and metabolic disturbances during pregnancy. Craniofacial clefts may also be seen as part of wider syndromes such as Goldenhar syndrome.
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Classification Tessier83 classified facial clefts according to their relationship with the orbit, nose and mouth. Numbering the clefts from 0 to 14 allowed the lower numbers to relate to the facial clefts and the higher numbers the cranial extensions (Figure 19.16) (see Chapter18, Cleft lip and palate).
Clinical features Figure 19.16 Tessier clefts. Reprinted from Tessier P. Anatomical classification of facial, craniofacial and latero-facial clefts. JMaxillofac Surg 1976; 4: 69–92, with permission from Elsevier.83
(a)
The clinical features are variable depending on the type of cleft. Clefts affecting the interorbital area result in hypertelorism and orbital dystopia (see Figure 19.17).
(b)
Figure 19.17 Facial cleft. Pre-operative (a) and post-operative (b) views.
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Management Surgical treatment will depend upon the site, size and severity of the cleft. The extent of the cleft can be variable, ranging from a notch in the soft tissues or soft-tissue deficiency to a severe cleft affecting skin, bone and brain.
Treatment will usually involve reconstitution of the layers, replacement of missing anatomical structures and normalization of secondary distortions.
FUTURE RESEARCH ➤➤ Technological advances have allowed the implementation of endoscopic instruments in the attempt to perform a relatively smaller craniofacial operation. The most common situation is currently to perform an endoscopic strip craniectomy for scaphocephaly combined with helmet therapy to achieve the desired morphological head shape change. Advocates of this technology and these techniques state that there is a smaller incision and also less blood loss intra-operatively. The converse argument, however, is that, if there is an intraoperative complication such as massive blood loss or dural tears/air emboli, surgical access is limited and significant blood is lost prior to being able to control it. ➤➤ Spring-assisted cranioplasty has been utilized in a number of conditions. Originally introduced by Lauritzen,34 the procedure involves inserting an omega-shaped spring, made of stainless steel wire, usually after a osteotomy has been performed. The spring is then inserted and a constant force is applied across the osteotomy site. This technique shows great promise and has a proven track record from a safety point of view. Some criticism, though, has been received
from not being able to modify the direction of expansion, sometimes a compromised aesthetic outcome and they require a second procedure to remove them. ➤➤ Mandibular distraction in children with mandibular hypoplasia to improve airway. Classically, this has been utilized in Pierre Robin sequence in an attempt to improve airway obstruction and prevent the need for tracheostomy, but there is growing evidence to suggest that most forms of significant mandibular retrognathia will benefit from distraction osteogenesis.84 The procedure can be repeated in severe cases. ➤➤ High-resolution 3D imaging has allowed for the introduction of computer-assisted surgery. Detailed scans are imported into a proprietary program which allows manipulation of the ‘bones’. Pre-surgery osteotomy cuts can be simulated by the computer, predicting the outcome of the operation. Thisthen allows cutting guides to be fabricated intra-operatively and patient-specific plates to created. The significant benefits of this include an increase in speed of the operation and a predictable outcome that is visualized prior to surgery.
KEY POINTS • Craniofacial surgery is undertaken in designated centres,
• Microtia is an important feature of many craniofacial
with access to MDTs and critical care facilities. • Children with syndromic craniosynostosis have a high incidence of airway problems, including OSA. • Some children with severe craniofacial disorders will need long-term tracheostomy. • Children likely to develop OSA should be monitored both clinically and with PSG to detect severity of OSA and to plan early investigation and intervention.
disorders, particularly OAVS/hemifacial macrosomia and Treacher Collins syndrome • Detailed imaging is essential for any nasal mass in the neonate prior to biopsy. • Families of children with craniofacial disorders should be offered a consultation with a clinical geneticist.
REFERENCES 1. https://www.england.nhs.uk/wp-content/ uploads/2013/06/e02-craniofacial.pdf 2. Thompson DNP, Hayward RD. Craniosynostosis: Pathophysiology, clinical presentation and investigation. In:ChouxM, Di Rocco C, Hockley A, Walker M (eds). Paediatric neurosurgery. London: Churchill Livingstone; 1999, pp.275–90. 3. Cohen MM. The aetiology of craniosynostosis. In: Persing JA, Jane JA, Edgerton MI (eds). Scientific foundations and surgical treatment of craniosynostosis. Baltimore: Williams and Wilkins; 1989. 4. Cohen MM Jr, MacLean RE. Craniosynostosis: Diagnosis, evaluation, and management. 2nd ed. New York: Oxford University Press; 2000. 5. Fryburg J, Hwang V, Lin KY. Recurrent lambdoid synostosis within two families. Am J Med Gen 1995; 58: 262–6.
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6.
Hennekam RCM, Van der BoogaardM. Autosomal dominant craniosynostosis of the sutura metopica. Clin Gen 1990;38:374–7. 7. Lajeunie E, Le Merrer M, Bonaiti-PellieC, et al. Genetic study of nonsyndromic coronal craniosynostosis. Am J Med Gen 1995; 55: 500–4. 8. Lajeunie E, Le Merrer M, MarchacD, Renier D. Genetic study of scaphocephaly.Am J Med Gen 1996; 62: 282–5. 9. Lajeunie E, Le Merrer M, Marchac D, Renier D. Primary trigonocephaly: isolated, associated and syndromic forms. Analysis of a series of 237patients. Am J Med Gen 1998; 75: 211–15. 10. Harper PS. Practical genetic counselling.6th edn. London: Hodder Arnold; 2004.
11. Gorlin RJ, Cohen MM, Hennekam RCM. Syndromes of the head and neck. Oxford Monographs on Medical Genetics no. 42. 4th ed. New York: Oxford University Press; 2001. 12. Virchow R. Uber den Cretinismus, namentlich in Franken, and uber pathologische Schadelformen. Verhandlungen der Physische-Medizinische Gesellschaft Wurzburg 1851; 2: 230–70. 13. Moss ML. The pathogenesis of premature cranial synostosis in man. Acta Anat (Basel) 1959; 37: 351–70. 14. Fok H, Jones BM, Gault DG, et al. Relationship between intracranial pressure and intracranial volume in craniosynostosis. Br J Plast Surg 1992; 45: 394–7. 15. Rich PM, Cox TC, Hayward RD. The jugular foramen in complex and syndromic craniosynostosis and its relationship
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to raised intracranial pressure. Am J Neuroradiol 2003; 24: 45–51. Eide PK, Helseth E, Due-Tonnesen B, Lundar T. Assessment of intracranial pressure. Pediatr Neurosurg 2002; 37: 310–20. Thompson DN, Harkness W, Jones B, et al. Subdural intracranial pressure monitoring in craniosynostosis: its role in surgical management. Childs Nerv Sys 1995; 11: 269–75. Gault DT, Renier D, Marchac D, JonesBM. Intracranial pressure and intracranial volume in children with craniosynostosis. Plast Reconstr Surg 1992; 90: 377–81. Whittle IR, Johnston IH, Besser M. Intracranial pressure changes in craniostenosis. Surg Neurol 1984; 21: 367–72. Tamburrini G, Di Rocco C, Velardi F, Santini P. Prolonged intracranial pressure monitoring in non-traumatic paediatric neurosurgical diseases. Med Sci Monit 2004; 10: 53–63. Thompson DN, Harkness W, Jones BM, Hayward RD. Aetiology of herniation of the hindbrain in craniosynostosis: An investigation incorporating intracranial pressure monitoring and magnetic resonance imaging. Pediatr Neurosurg 1997; 26: 288–95. Tuite GF, Chong WK, Evanson J, etal.Theeffectiveness of papilloedema as an indicator of raised intracranial pressure in children with craniosynostosis. Neurosurgery 1996; 38: 272–8. Mursch K, Brockmann K, Lang JK, et al. Visual evoked potentials in 52children requiring operative repair of craniosynsostosis. Pediatr Neurosurg 1998; 29: 320–3. Tuite GF, Evanson J, Chong WK, et al. The beaten copper cranium: a correlation between intracranial pressure, cranial radiographs, and computed tomographic scans in children with craniosynostosis. Neurosurgery 1996; 39: 691–9. Consensus Statement: Royal College of Anaesthetists / Association of Paediatric Anaesthetists of Great Britain and Ireland. Available from: http://www.apagbi.org. uk/sites/default/files/imagecache/Joint%20 Professional%20Guidance%20on%20 the%20use%20of%20general%20anaesthesia%20in%20young.pdf. Hunter AG, Rudd NL. Craniosynostosis.I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s). Teratology 1976; 14: 185–93. David JD, Poswillo D, Simpson D. The craniosynostoses: causes, natural history and management. New York, NY: Springer; 1982. Greensmith AL, Holmes AD, Lo P, et al. Complete correction of severe scaphocephaly: the Melbourne method of total vault remodelling. Plast Reconstr Surg 2008; 121: 1300–10. Cohen MM. Craniosynostosis: diagnosis, evaluation, and management. New York, NY: Raven Press; 1986. Kimonis V, Gold JA, Hoffman TL, et al. Genetics of craniosynostosis. Semin Pediatr Neurol 2007; 14(3): 150–61. van der Meulen J, van Adrichem L, ArnaudE, et al. The increase of metopic synostosis: a pan-European observation. JCraniofac Surg 2009; 20(2): 283–6.
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32. Cohen MM Jr. Etiopathogenesis of craniosynostosis. Neurosurg Clin N Am1991; 2(3): 507–13. 33. Tessier P. Osteotomies totales de la face. Syndrome de Crouzon, syndrome d’Apert: Oxycepalies, scaphocephalies, turricephalies. [Total facial osteotomy. Crouzon’s syndrome, Apert’s syndrome: oxycephaly, scaphocephaly, turricephaly.] Ann Chir Plast 1967; 12: 273–86. 34. Lauritzen C, Sugawara Y, Kocabalkan O, et al. Spring mediated dynamic craniofacial reshaping. Case report. Scand J Plast Reconstr Surg Hand Surg 1998; 32: 331–8. 35. Jones KL. Smith’s recognizable patterns of human malformation. 6th ed. Philadelphia: Elsevier Saunders; 2006. 36. Wilkie AO, Slaney SF, Oldridge M, et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Gen 1995; 9: 165–72. 37. Tolarová MM, Harris JA, Ordway DE, Vargervik K. Birth prevalence, mutation rate, sex ratio, parents’ age, and ethnicity in Apert syndrome. Am J Med Gen 1997; 72: 394–8. 38. Cohen MM Jr, Kreiborg S. An updated pediatric perspective on the Apert syndrome. Am J Dis Child 1993; 147:989–93. 39. Lajeunie E, Heuertz S, El Ghouzzi V,etal. Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutatins accounts for severe forms of Pfeiffer syndrome. Eur J Hum Genet 2006; 14(3): 289. 40. Muenke M,Schell U,Hehr A, et al. Acommon mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet1994; 8(3): 269–74. 41. Rutland P, Pulleyn LJ, Reardon W,et al. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet 1995; 9(2): 173–6. 42. Muenke AM, Gripp KW, McDonaldMcGinn DM, et al. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 1997; 60: 555–64. 43. Howard TD, Paznekas WA, Green ED, etal. Mutations in TWIST, a basic helix– loop–helix transcription factor, in Saethre– Chotzen syndrome. Nat Genet 1997; 15:36–41. 44. Golla A,Lichmer P,von Gernet S,et al. Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. JMed Genet1997; 34(8): 683–4. 45. Sharma VP, Fenwick AL, Brockop MS, etal. Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nat Gen et 2013; 45: 304–7. 46. Connerney J, Andreeva V, Leshem Y, et al. Twist1 dimer selection regulates cranial suture patterning and fusion. Dev Dyn 2006; 235(5): 1334–46. 47. Wieland I, Jakubiczka S, Muschke P, etal. Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. Am J Hum Genet 2004; 74: 1209–15. 48. Panchal J, Uttchin V. Management of craniosynostosis. Plast Reconstr Surg 2003; 111: 2032–48.
49. Jenkins D, Seelow D, Jehee FS, et al. RAB23 mutations in Carpenter syndrome imply an unexpected role for Hedgehog signaling in cranial suture development and obesity. Am J Hum Genet 2007; 80: 1162–70. 50. Zandieh SO, Padwa BL, Katz ES. Adenotonsillectomy for obstructive sleep apnea in children with syndromic craniosynostosis. Plast Reconstr Surg 2013; 131: 847–52. 51. Xie C, De S, Selby A. Management of the airway in Apert syndrome. JCraniofac Surg 2016; 27(1): 137–41. 52. Ahmed J, Marucci D, Cochrane L, et al. The role of the nasopharyngeal airway for obstructive sleep apnea in syndromic craniosynostosis. JCraniofac Surg 2008; 19(3): 659–63. 53. Randhawa P, Ahmed J, Nouraei S, etal.Impact of long-term nasopharyngealairway on health related quality of lifeof children with obstructive sleepapnea caused by syndromic craniosynostosis. JCraniofac Surg 2011; 22: 125–8. 54. Mitsukawa N, Kaneko T, Saiga A, et al. Early midfacial distraction for syndromic craniosynostotic patients with obstructive sleep apnoea. JPlast Reconstr Aesthet Surg 2013; 66: 1206e–1211. 55. Bannink N, Nout E, Wolvius EB, et al. Obstructive sleep apnea in children with syndromic craniosynostosis: long-term respiratory outcome of midface advancement. Int J Oral Maxillofac Surg 2010; 39(2): 115–21. 56. Lertsburapa K, Schroeder JW Jr, SullivanC. Tracheal cartilaginous sleeve in patients with craniosynostosis syndromes: a meta-analysis. JPediatr Surg 2010; 45(7): 1438–44. 57. Alli A, Gupta S, Elloy MD, Wyatt M. Laryngotracheal anomalies in children with syndromic craniosynostosis undergoing tracheostomy. JCraniofac Surg 2013; 24(4): 1423–7. 58. Thompson DN, Jones BM, HarknessW, etal. Consequences of cranial vaultexpansion surgery for craniosynostosis. Pediatr Neurosurg 1997; 26(6): 296–303. 59. McMillan K, Lloyd M, Evans M, et al. Experiences in performing posterior calvarial distraction. JCraniofac Surg 2017; 28(3): 664–9. 60. Collmann H, Sörensen N, Kraus J. Hydrocephalus in craniosynostosis: a review. Childs Nerv Syst 2005; R 21: 902–12. 61. Wall SA, Goldin JH, Hockley AD, et al. Fronto-orbital re-operation in craniosynostosis. Brit J Plast Surg 1994; 47: 180–4. 62. Harrop CW, Avery BS, Marks SM, Putnam GD. Craniosynostosis in babies: complications and management of 40cases. Brit J Oral Maxillofac Surg 1996; 34: 158–61. 63. Meyer P, Renier D, Arnard E. Blood loss during repair of craniosynostosis. Brit J Anaesth 1993; 71: 854–7. 64. Woods RH, Ul-Haq E, Wilkie AO, et al. Re-operation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15year review. Plast Reconstr Surg 2009; 123(6): 1801–10. 65. Gorlin RJ, Jue KL, Jacobsen U, Goldschmidt E. Oculo-auriculo-vertebral dysplasia. JPediatr 1963; 63: 991–9.
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218 Section 1: Paediatrics 66. Beleza-Meireles A, Clayton-Smith J, Saraiva JM, Tassabehji M. Oculo-auriculovertebral spectrum: a review of the literature and genetic update. JMed Genet 2014; 51(10): 635–45. 67. Lopez E, Berenguer M, TingaudSequeiraA, et al. Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS. JMed Genet 2016; Jun 29. 68. Vento AR, LaBrie RA, Mulliken JB. TheOMENS classification of hemifacial microsomia. Cleft Palate-Craniofac J 1991; 28(1): 68–76. 69. Poon C, Meara J, Heggie A. Hemifacial microsomia: use of the OMENS-plus classification at the Royal Children’s Hospital of Melbourne. Plast Reconstr Surg 2003; 111(3): 1011–18. 70. Kaban LB, Moses MH, Mulliken JB. Surgical correction of hemifacial microsomia in the growing child. Plast Reconstr Surg 1988; 82: 9. 71. Pruzansky S. Not all dwarfed mandibles are alike. Birth Defects 1969; 5: 120. 72. Meurman Y. Congenital microtia and meatal atresia. Arch Otolaryngol 1957; 66: 443.
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73. Rahbar R, Robson CD, Mulliken JB, et al. Craniofacial, temporal bone, and audiologic abnormalities in the spectrum of hemifacial microsomia. Arch Otolaryngol Head Neck Surg 2001; 127: 265–71. 74. Koppel DA, Moos KF. Treacher Collins syndrome. In: Ward Booth P, Schendel SA, Hausamen JE (eds). Maxillofacial surgery. Philadelphia: Churchill Livingstone; 1999, pp.943–52. 75. Wise CA, Chiang LC, Paznekas WA, et al. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region. Proc Natl Acad Sci USA 1997; 94: 3110–15. 76. Bhagwati SN, Mahapatra AK. Encephalocoele and anomalies of the scalp. In: Choux M, Di Rocco C, Hockley A, Walker M (eds). Paediatric neurosurgery. London: Churchill Livingstone; 1999, pp.101–20. 77. MRC Vitamin Study Research Group. Prevention of neural tube defects: resultsof the Medical Research CouncilVitamin Study. Lancet 1991; 338(8760): 131–7.
78. Suwanwela C, Suwanwela N. A morphological classification of sincipital encephalomeningoceles. JNeurosurg 1972; 36(2): 201–11. 79. Mahapatra AK. Anterior encephalocele: AIIMS experience a series of 133 patients. JPediatr Neurosci 2011; 6(Suppl1): S27–S30. 80. Mahapatra AK. Giantencephalocele: a study of 14patients. Paediatr Neurosurg 2011; 47(6): 406–11. 81. Perez da Rosa S, Millward CP, BhattiMI, et al. MRI findings of intracranial anomalies associated with cephalocele: A case series. Childs Nerv Syst 2014; 30(5): 891–5. 82. Kawamoto HK. The kaleidoscopic worldof rare craniofacial clefts: order outof chaos. Clin Plast Surg 1976; 3: 529–72. 83. Tessier P. Anatomical classification of facial, craniofacial and latero-facial clefts. JMaxillofac Surg 1976; 4: 69–92. 84. Adhikari AN, Heggie AA, Shand JM, et al. Infant mandibular distraction for upper airway obstruction: a clinical audit. PlastReconstr Surg Glob Open 2016; 4(7): e812.
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20 CHAPTER
BALANCE DISORDERS IN CHILDREN Louisa Murdin and Gavin A.J. Morrison
Introduction.................................................................................. 219 Maturation of the vestibular system.............................................. 219 Assessment of the dizzy child.......................................................220 Causes of childhood vestibular symptoms.....................................221 Vestibular conditions with normal hearing.....................................221
Vestibular conditions with associated hearing loss........................ 224 Persistent imbalance and ataxia: Central disorders.......................226 Ataxia...........................................................................................226 Treatments for vertigo...................................................................227 References...................................................................................229
SEARCH STRATEGY A number of search strategies were employed for this chapter. Using dizziness, vertigo, paediatric/pediatric/child and the major conditions as keywords, the following databases were consulted: Embase, Ovid Medline (R) and Journals @ Ovid full text subset.
INTRODUCTION Young children do not usually complain of vertigo; history and diagnosis can be elusive. Owing to this, the pattern of symptoms in the very young has a wide differential diagnosis. Once middle ear disease and congenital or hereditary sensorineural conditions have been excluded, a large percentage will have dizziness associated with migraine. Posterior fossa neurological disease should be considered; in older children, adult causes of vertigo may be seen. Reassurance that the prognosis is favourable, and antihistamines such as cinnarizine or, if appropriate, antimigraine treatments are usually effective. Estimates of prevalence of vestibular disorders in children suggest that the experience of vertigo is not especially rare. In one community-based study of children aged 1 to 15years, 8% had experienced vertigo and in 23% of these it was severe enough that it interfered with activity.1
MATURATION OF THE VESTIBULAR SYSTEM The otic capsule develops early in gestation between the fourth and twelfth weeks of intrauterine life. As the vestibular system is phylogenetically older than its auditory counterpart, each stage in development is in advance of
the auditory system and therefore less vulnerable to environmental insult. The semicircular canals have formed from the utricular portion of the otic vesicle by the 30 mm stage, while the cochlear duct has two and a half coils by the 50 mm stage. 2 The vestibular nerve myelinates by 16 weeks in utero. By 24weeks there is even a primitive vestibulo-ocular reflex present. After birth, at 4 months of age, the baby can tilt its head to keep it vertical. It is the first sensory system to develop. Vestibular function is present at birth. Full-term babies demonstrate a ‘doll’s eye response’. When the baby is rotated, eye and head deviation is seen in the direction opposite to the direction of rotation. This is akin to the nystagmus seen in adults on rotation, but without the saccadic fast phases that have not yet matured at this age. Maturation of the vestibulospinal and vestibulo- ocular reflexes continues so that responses are maximal at 6–12months of age. Beyond this, responses decline, as part of normal motor development, to reach adult values around 10–14years of age. Bithermal caloric responses can be made in 9-monthold babies if necessary, to measure the vestibulo-ocular reflex. Vestibular nystagmus in children, however, tends to be of a lower frequency and greater amplitude. Maximum slow-phase velocity readings are often similar to those in adults, but the normal ranges for the canal paresis and directional preponderance calculations are wider than those seen in adults. 219
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220 Section 1: Paediatrics
Infantile reflex responses and motor milestones The Moro response comprises a sudden bilateral extension of the upper limbs evoked by sudden jarring of the cot or dropping the head backwards by a few centimetres. This response is present in normal children at birth, and disappears by the sixth month. The secondary inherent responses are righting responses and protective reactions. From 4months, the infant will tilt the head to maintain it vertical if the trunk is tilted laterally through 30° (headrighting reflex). The ages of sitting unsupported, crawling and walking bear some relation to vestibular function but also depend upon neurodevelopment. Vision also plays an important part in postural control.
ASSESSMENT OF THE DIZZY CHILD Symptoms of vertigo in children Childhood vertigo results from a mismatch of information from the three different sensory systems: vestibular, visual and proprioceptive. Vertigo, however, is much more difficult to recognize in babies and children than in adults; younger children are not able to describe what they are experiencing and may present with other behavioural symptoms. Parents or carers may report seeing the child suddenly cry out and drop to the floor or cling to the legs of adults, pallor, sweating, vomiting, screaming, lying face down in the cot and showing reluctance to be moved.3 Interestingly, children born with a congenital lack of normal vestibular function often have no balance disturbance at all although they may have mildly delayed motor milestones. Vision remains by far the most important sense for locomotor and balance acquisition. It is helpful to direct the history taking with a number of principal and most likely diagnoses in mind. In the paediatric age group the principal conditions to consider are: • • • • • • •
benign paroxysmal vertigo of childhood migraine associated vertigo epilepsy central causes of ataxia and loss of balance vestibular neuronitis BPPV adult causes, e.g.Menière’s disease.
A more complete list is given in Box20.1. The presentation of vertigo varies quite dramatically according to the age of the child. While it is possible for 2-year-olds to experience acute vertigo, young children cannot describe this and may even present with torticollis. If there is a delay in motor milestones, children may present with poor balance or falling; this can also be associated with simple conditions such as ‘glue ear’. By 5years of age, short-lived dizzy episodes can be described, the common cause being benign paroxysmal vertigo (BPV) of childhood. By the teenage years, migrainous vertigo, psychogenic vertigo and the adult vertiginous conditions are much more common.
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BOX 20.1 Causes of childhood vestibular symptoms Conditions with hearing loss
Conditions with normal hearing
OME
Motion sickness
Suppurative ear disease
BPV of childhood
Cholesteatoma with fistula
Basilar migraine
Temporal bone trauma
Seizure disorders
Barotraumatic perilymph fistula
BPPV
Menière’s disease
Post-traumatic vertigo
Post-traumatic vertigo
Viral labyrinthitis or neuronitis
Enlarged vestibular aqueduct syndrome
Posterior fossa tumours
Other congenital temporal bone anomalies, e.g.CHARGE association
Cardiac causes: syncope and arrhythmias
Dehiscent superior semicircular canal syndrome
Acute poisoning
Drug-induced ototoxicity
Multiple sclerosis and Lyme disease
Congenital syphilis
CNS infections: Coxsackie A and B, echovirus encephalitis or HIV infection
Herpes zoster oticus
Meningitis: viral or bacterial
Congenital CMV infection
Chiari malformations
Metabolic conditions: Hurler syndrome, hypothyroidism
Hereditary cerebellar ataxias
Usher syndrome
Acute cerebellar ataxia
History taking It is helpful to establish the nature of the dizziness, whether it is true vertigo, loss of balance or a light-headed faint feeling. The duration and periodicity can be useful guides, as may precipitating factors such as head or neck injury. The presence of frequent headaches and whether they occur with vertigo or at other times is important. Associated vomiting may be an indication of an acute true vertigo, a migraine phenomenon or the presence of raised intracranial pressure. Associated hearing loss, otalgia or otorrhoea are important. It can be helpful to categorize childhood dizziness into conditions with normal hearing and those with associated deafness (see Box20.1). A neurological history is essential, specifically if there is anything to suggest temporal lobe seizures, visual or olfactory hallucinations. The developmental history, in terms of the motor milestones, or any regression should be ascertained. The presence of a recent pyrexial illness, the drug history both current, past and, indeed, in utero can be important, and various sorts of poisoning should be borne in mind in the child who becomes acutely ill with vertigo and may have ingested something while playing. In the ill, febrile child a range of serious infectious diseases should be considered. In a slightly older child, it may
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be more apparent that the problem is one of fainting or hyperventilation, or that there are cyanotic attacks or palpitations in association with the dizziness. The family history is relevant, especially one of maternal migraine, familial sensorineural deafness or neurofibromatosis type 2 (NF2).
Examination of the dizzy child Much of the paediatric vestibular examination can be carried out through observation of the child from the waiting area, moving into the consulting room. The routine paediatric examination will include otoscopy. Facial nerve function, tongue movements and the gag reflex should be checked. It is important to look at eye movements. This should include a cover test to check for strabismus and latent nystagmus, and, in particular, to search for nystagmus both with and without visual fixation. Headshaking nystagmus can also be used effectively in children to unmask a unilateral peripheral vestibular deficit. Smooth pursuit, saccades and optokinetic nystagmus can be elicited using visually attractive targets. The standard clinical balance assessments can be undertaken, such as Romberg’s test, Untenberger’s stepping test and the tandem heel–toe gait. It is helpful to make this fun for the child by introducing games, such as hopping and kicking a football, to assess balance function better. Head thrust testing can be helpful in diagnosing a unilateral peripheral deficit. Dix-Hallpike positional testing should also be undertaken (seeChapter 62, Evaluation of balance). Neurological examination of the limbs should be undertaken to seek signs of spasticity, myopathy, sensory neuropathy or other causes of gait abnormality. Rotation testing is easily carried out on an office chair with the child on the parent’s lap. Cerebellar ataxia is seen on heeltoe tandem gait with dysmetria, but with normal ranges of lower limb motion and unchanged gait velocity and stride length. Characteristically, gait is wide based with dys-synergia and dysrhythmia, and balance is poor.4
Investigations Audiometry is mandatory. This should comprise a pure tone audiogram or alternative threshold assessment, such as visual reinforcement audiometry, if the child’s age or development demands it. Objective testing with brainstem auditory-evoked responses may be indicated. Tympanometry should also be undertaken. Routine blood tests to exclude anaemia or other blood dyscrasias are worthwhile. The white cell count and inflammatory markers (erythrocyte sedimentation rate – ESR- or C-reactive protein) may give a clue to an infective condition which could have led, for example, to cerebellar encephalitis. Serology should exclude congenital syphilis, and human immunodeficiency virus (HIV) disease might be considered. Depending on the history and the level of concern, other investigations might include formal rotation testing, bithermal caloric testing with videonystagmography
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or electronystagmography recordings. Vestibular evoked myogenic potentials (VEMPs) have also been successfully recorded in children and babies. 5 Ocular VEMPs are also suitable to record in children over 2.6 Imaging the head and inner ears with magnetic resonance (MR) scanning and/or a high-resolution computed tomography (CT) scan for the bony labyrinth and temporal bones will be indicated in selected children. For example, reassurance that there is no space-occupying lesion in a child with headaches and vertebrobasilar migraine, or defining an enlarged vestibular aqueduct in association with sensorineural hearing loss could be important. If the diagnosis is clinically obvious, however, it is unnecessary to undertake brain scanning. Where the history indicates it, referral for an electroencephalogram (EEG) and neurological opinion or for an electrocardiogram and cardiac review may have to be considered.
20
CAUSES OF CHILDHOOD VESTIBULAR SYMPTOMS The diagnostic flow chart (Figure 20.1) summarizes the diagnostic process in managing the child with vestibular symptoms. The conditions are discussed in more detail below.
VESTIBULAR CONDITIONS WITH NORMAL HEARING Box 20.1 lists most of the conditions that can present with childhood vertigo, dizziness or balance problems. Although the differential diagnosis is extensive, in over half the children who present to the paediatric otolaryngologist with dizziness or disequilibrium, the cause will be otitis media with effusion (OME or ‘glue ear’), BPV of childhood or dizziness as a migraine phenomenon.7 A further study indicates the most common causes for vertigo in children to be migraine in 31% and BPV of childhood in 25%.8 Other less frequent causes include trauma with deafness, delayed endolymphatic hydrops, benign positional vertigo and, more rarely, cerebellopontine angle tumour, seizures, acute vestibular neuritis or juvenile rheumatoid arthritis. In this study, abnormalities were found in hearing in 24%, in positional testing in 5%, in 11% of bithermal caloric tests, and in 65% on rotational chair testing.8
Motion sickness Motion sickness is caused by a conflict in the kinetic input, often with an excessive vestibular stimulation. Girls are more commonly affected than boys and it tends to settle at puberty. Interestingly, motion sickness can occur in people with blindness, but can also be caused by purely visual stimulation. There is an association with migraine and vestibular dysfunction.9
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222 Section 1: Paediatrics
Dizziness and balance disturbance
Ataxia
Vertigo
Normal hearing
Hereditary ataxia Posterior fossa disease
With hearing loss
Vertigo 10 minutes Vomiting +ve FH migraine migraine
1 or 2 prolonged episodes vertigo ∆ vestibular neuronitis /labyrinthitis
Vertigo with hallucinations ∆ seizure disorder
Ototoxic medications
HR CT scan ∆ EVAS Other temporal bone anomalies
Syndromes: Pendred Usher CHARGE Branchio-otorenal Waardenburg
Barotrauma /head injury ∆ perilymph fistula
Figure 20.1 Diagnostic flow chart for balance disturbances in children.
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Benign paroxysmal vertigo of childhood Benign paroxysmal vertigo of childhood is not a positional vertigo and is quite different from benign paroxysmal positional vertigo (BPPV). It occurs in children who are aged 4 or over, with no obvious precipitating factors. It is a very frequent cause of paediatric dizziness, being found in 35% of children with dizziness in one series.10 The child experiences short-lived acute vertigo for 30–60 seconds. He or she may fall or hold onto something suddenly and cry, becoming anxious, pale and sweaty and frequently vomiting. There is then a rapid return to complete normality a few minutes later. Nystagmus is present during attacks which are recurrent and variable in frequency, but interictal neurological examination is normal.11 Attacks can continue in older children but usually subside. Half of these children go on to develop migraine in adolescence. Most have a family history of migraine. Caloric abnormalities are quite likely to be present if recordings are made. A related condition that presents in a slightly younger age group is benign paroxysmal torticollis. Torticollis is not related to vertigo, however. There is a suggestion that creatinine kinase levels are likely to be elevated inBPV of childhood, and measurement may be helpful in diagnosis.12 BPV has a very favourable long-term prognosis. In one study the condition had resolved by about 8years of age, and on long-term follow-up 21% had developed migraine but none had any vertigo or balance disorder.13 The differential diagnosis of a child or baby presenting with marked torticollis is large and varied and should include congenital torticollis, paroxysmal torticollis with vertigo, mastoiditis or neck abscess, skull base tumour and neurological extrapyramidal spasmodic torticollis or psychogenic spasmodic torticollis.
Migraine and vertigo Migraine is a common multifactorial neurovascular disorder. Several mutations have been discovered for rare forms of migraine; one within CACNA1A on chromosome 19p13, a gene encoding for part of a neuronal calcium channel codes mutations for familial hemiplegic migraine type 1 and also in episodic ataxia type 2. Genome-wide association studies have been carried out for more common forms of migraine; however, these are genetically complex with many different contributory genetic variations. The prevalence of migraine in children and adolescents over periods between 6months and lifetime is 7.7% (95% CI 7.6–7.8). Migraine presents differently in children when compared to adults, with shorter headaches that are more likely to be bilateral.11 Vestibular migraine is a subtype of migraine present in the Appendix of themost recent International Classification of Headache Disorders (ICHD) classification. Basilar-type migraine is diagnosed when other symptoms attributable to the posterior circulation are present and ascribed to aura phenomena. Migraine is identified as a primary diagnosis in around 25% of those children presenting with dizziness. Headache need not be present with all attacks of dizziness. In one study into migraine-related vestibulopathy,
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common vestibular test abnormalities included a directional preponderance on rotational testing, unilateral reduced caloric responsiveness and vestibular system dysfunction patterns on posturography. If dietary triggers are identifiable, they can be avoided, but there is no evidence that cutting out foods such as cheese or chocolate reduces frequency of migraine, and restricting children’s diets is unlikely to be productive; in some cases it has been the cause of malnutrition.14 Fasting, by contrast, is a proven trigger so encouraging regular meals and snacks is prudent. If attacks are occurring more than once a week, prophylaxis and prescribing prophylactic antimigraine medications may be considered as an option. Symptomatic relief has also been provided using anti-motion sickness medications, vestibular rehabilitation and pharmacotherapy directed at any associated anxiety.15 Associated headache can be treated acutely in children over 12years old with triptans.16 Some more recent evidence supports selected use in 6–12-year-olds.14 Electroencephalographic changes are seen during and shortly after a migraine attack but fully resolve in time. EEG, carried out within 4hours of the onset of symptoms (initial stage), shows a diffuse polymorphic subdelta–delta activity. EEG, performed 16hours after the onset of symptoms, shows delta–theta activity predominant over the occipital regions.17 Videonystagmography studies in children with migraine, undertaken during spontaneous nystagmus, gaze nystagmus, eye-tracking test, optokinetic and positional nystagmus and caloric testing, showed that all patients with migraine had abnormalities in vestibular testing. Analysis of the results suggested a mainly central localization of vestibular dysfunction.18
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Vestibular neuronitis Vestibular neuronitis presents as it does in adults, with acute severe vertigo, nausea and often vomiting but normal hearing. Characteristic nystagmus is seen during acute attacks. Children recover more quickly from this disorder than do adults. Half of patients can have repeated episodes, although within a few years attacks become progressively less severe and are likely to cease. Treatment is with vestibular rehabilitation, which in children takes the form of games (ball games, picking up of toys on the floor, and rapid head movements with gaze fixation on fixed targets).19
Benign paroxysmal positional vertigo While in adults BPPV most commonly occurs spontaneously or follows vestibular neuronitis sometime previously, in children it is rare and BPPV is more likely to occur following a head injury or marked whiplash injury. The characteristic nystagmus seen in adults has been documented in children. 20 It has a good prognosis. In one study on children’s temporal bones in Boston, 12.7% of paediatric temporal bones examined had basophilic deposits, many of them with otoconial crystals in the semicircular canals. That is much higher than the incidence in children
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who had any vertigo symptoms, a temporal bone finding mirrored for this condition in adults. 21 The exact pathogenesis of BPPV is not yet fully explained.
Post-traumatic vertigo The complaint of dizziness and headaches quite commonly follows head injury in children. The relatively high incidence of these persistent post-traumatic symptoms in children and adolescents presents a diagnostic challenge. It is often difficult to differentiate between functional complaints generated by psychological trauma or compensation seeking and an organic aetiology. 22
Seizure disorders Recurrent unprovoked seizures due to epilepsy are either generalized or localized (focal). Seizure disorders cangive rise to vertigo in two ways: first, in the aura of a generalized (grand mal) fit; second, as vertiginous epilepsy or vestibulogenic epilepsy. In temporal lobe or occipital lobe focal epilepsy there may be transient loss of consciousness or amnesia; the child may describe the sensation of movement and may have visual or auditory hallucinations. There may be motor or emotional components. Convulsive epilepsies are generally unmistakable. Absence epilepsies may be recognized by the provocation of an episode during hyperventilation. Complex partial seizures in children can be difficult to distinguish from behavioural problems, shuddering attacks, paroxysmal vertigo, breath-holding spells, cardiogenic syncope, night terrors and movement disorders, such as paroxysmal kinesigenic choreoathetosis. 23 A comparison of the elementary visual hallucinations of 50patients with migraine and 20patients with occipital epileptic seizures showed that in epileptic seizures they are predominantly multicoloured with circular or spherical patterns as opposed to the predominantly black and white linear patterns of migraine. This simple clinical symptom of elementary visual hallucinations may be helpful in distinguishing between classic or basilar migraine and visual partial epileptic seizures, particularly in children. 24 Referral to paediatric neurology is required if vertiginous epilepsy is suspected.
Psychogenic (conversion reaction) vertigo Psychogenic dizziness should be diagnosed after excluding organic pathology. Sometimes seen in adolescents, more commonly girls, it is said to occur in children who are put under parental pressure to achieve. Recurrent fainting episodes can be seen in adolescence, when the possibility of a cardiac cause should be considered. In surdocardiac syndrome, for example, there is a prolonged QT interval, fainting and a risk of sudden death. Psychogenic vertigo as a conversion reaction can be seen alone or in association with psychogenic hearing loss. The discrepancy between symptoms and findings in audiometric or vestibular tests is the essential clue for reaching a
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diagnosis of a conversion disorder. Referral to a psychiatrist may be necessary because many patients have problems in school or at home, and recovery may take a long time. 25
Miscellaneous conditions with normal hearing There are a number of other conditions which can mimic vertigo that are worth considering in the infant or child with unusual symptoms. These include toddler breathholding attacks.
POISONING In a child with dizziness, nausea and vertigo, among other symptoms, acute poisoning from plants, chemicals or drugs should be considered.
ATAXIA Ataxia and other primarily neurological, hereditary or degenerative conditions are rare. They are discussed in a separate section (see ‘Persistent imbalance and ataxia: central disorders’ below).
VESTIBULAR CONDITIONS WITH ASSOCIATED HEARING LOSS Otitis media with effusion and chronic suppurative ear disease Glue ear may be detected in the clumsy child with poor balance who is more prone to falls than his siblings or peers. Chronic suppurative otitis media (CSOM) with perforation and infections can influence general balance and CSOM with cholesteatoma carries the possibility of a fistula to the lateral semicircular canal or oval window accounting for dizziness or leading to suppurative labyrinthitis.
Menière’s disease Childhood or adolescent onset of Menière’s disease, although uncommon, is well documented. In one series, sporadic Menière’s disease began in childhood in less than 3%, although, in the less common familial Menière’s disease in more than 9%, no doubt due to the phenomenon of anticipation. The clinical features are indistinguishable from those in adults; however, early onset tends to be associated with more aggressive disease and a likelihood of relatively early bilateral involvement. 26,27
Associated temporal bone abnormalities and hearing loss In numerous conditions and syndromes there is sensorineural hearing loss with temporal bone anomalies. In only a small number of these conditions are children likely
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to present with vestibular symptoms. Vision remains the most important special sense in acquiring balance. Children with bilateral vestibular impairment may be delayed somewhat in motor development but rarely present with vertigo. Not surprisingly, in conditions where there is abnormal or absent vestibular development and visual loss, children are more likely to present with balance disturbances. Children with Usher syndrome have vestibular hypofunction and may therefore have balance difficulties when vision is also impaired. In CHARGE association (see Chapter 23, Neonatal nasal obstruction) there are frequently abnormalities, for example a primitive otocyst, and such children may have absent semicircular canals and an aberrant facial nerve. A study from Ann Arbor researched patients with severe sensorineural hearing loss and agenesis of the semicircular canals. Most had CHARGE syndrome, some were non-syndromic, and one had Noonan syndrome. They did not present with vertigo. 27 X-linked hereditary deafness is another example in which vestibular symptoms are uncommon despite vestibular hypofunction. Vestibular hypofunction may be present in Down syndrome.
Enlarged vestibular aqueduct syndrome Enlarged vestibular aqueduct syndrome is a rare congenital anomaly; vestibular disturbance is uncommon but is seen in 4% of children. Fluctuant and progressive sensorineural hearing loss is the norm and is bilateral in 87% of cases. A vestibular aqueduct radiologically wider than 1.5 mm at its midpoint or wider than 2 mm at the operculum is defined as enlarged. 28 Most patients maintain stable hearing in at least one ear over a 4-year period. It can occur in non-syndromic conditions but is also found in 50% of patients with Waardenburg syndrome (types 1 and 2), in which there may be significant widening of the vestibular aqueduct at its midpoint together with other temporal bone anomalies. 29 These children tend to have profound or severe hearing loss. Up to 30% of children with Waardenburg syndrome have vestibular impairment and some experience episodic vertigo. Enlarged vestibular aqueduct syndrome is also seen in Pendred and the branchio-otorenal syndromes, often with an associated Mondini deformity in the former. Patients with enlarged vestibular aqueduct syndrome may show an autosomal recessive inheritance (see Chapter 10, Management of the hearing impaired child). 30 Avoidance of head injuries is recommended but this may not influence the progression of deafness. The pathogenesis is ill-understood. Surgery to occlude the vestibular aqueduct remains controversial. Conservative management is advised.
The patent cochlear aqueduct The cochlear aqueduct at its narrowest portion is 0.14 mm wide. It widens as it opens into the posterior fossa with a very variable size at this point. The late Peter Phelps, who had extensive experience in the histopathology of
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temporal bones, stated that his study of 1400 normal temporal bones and 29 with dysmorphic labyrinths had failed to show a dilated cochlear aqueduct, and he believed that sensorineural deafness attributed to this, in fact, related to defects at the fundus of the internal auditory canal (PhelpsP, personal communication).
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Dehiscent superior semicircular canal syndrome Dehiscent superior semicircular canal syndrome has been described. It can be demonstrated on high-resolution CT scanning. Typically, vertigo or oscillopsia is evoked by loud noises or by stimuli that result in changes in middle ear or intracranial pressure. The Tullio phenomenon (vertigo in response to sound) and Hennebert’s sign (a positive fistula test with a normal middle ear) may therefore be found. Three-quarters of patients also experience chronic dysequilibrium – often the most debilitating symptom. 31 The condition may also present with an apparent conductive hearing loss. Evoked eye movements, by Valsalva manoeuvre against pinched nostrils, tragal compression or sounds over 100 dB at 500–2000 Hz, produce vertical and torsional components. Surgical repair via the middle fossa approach is successful. Radiologically, dehiscence in children is fairly common (27.3% of children under 2), but the degree to which this correlates with clinical symptoms is unclear. 32
Perilymph fistulae Perilymph fistulae in children are usually seen in association with temporal bone anomalies and pre-existing severe or total hearing loss in the affected ear. They may present with recurrent meningitis or with cerebrospinal fluid (CSF) behind the tympanic membrane. Perilymph fistulae can arise directly from blunt trauma to the middle ear or from temporal bone fractures and, iatrogenically, after ear surgery for CSOM or poststapedotomy. More rarely, marked barotrauma may lead to a fistula from the round or oval windows. In all these situations surgical exploration to seal the fistula is indicated. Spontaneous perilymph fistula in the normal temporal bone, however, is probably almost never seen. In the late 1980s there was a vogue for clinically diagnosing a spontaneous perilymph fistula in children and adults who presented with symptoms of hearing loss, vertigo and sometimes tinnitus. These patients were subjected to surgical exploration of the middle ear with sealing of the apparent fistula. In general, the hearing outcomes from surgery did not seem to correlate with the finding of a fistula and, indeed, it can be very difficult at surgery to be sure if there is any real perilymph leak. To address some of the problems inherent in the diagnosis and treatment of perilymph fistulae, records of patients operated on at the House Ear Clinic over 12years were reviewed retrospectively. Eighty-six patients were surgically explored for fistulae during this period. Thirty-five (40.7%) fistulae were found and 51 ears were patched whether fistulae were found or not. Of the 80 patients who were seen
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for follow-up, 35 (43.8%) were subjectively better and 45 (56.2%) were the same. Although the number of fistulae found and the number of patients improved were similar, the composition of the two groups was different. On the basis of audiometric results, improvement in hearing happened in only 18.7% of patients. None of the demographic factors or diagnostic tests was predictive of either the presence of a fistula or the therapeutic outcome.33 Another retrospective study by Bluestone et al. on patients undergoing perilymph fistula repair compared pre- and post-operative hearing levels, vertiginous complaints and recurrences. In 92% of ears there was either stabilized or improved hearing and in 3% a decrease was noticed, but this was much later and believed not to be related. The results were similar, however, in the nonperilymph fistula ears, of which 95% had stabilized or improved hearing and, again, 3% had a much delayed decrease. Of the children with vertiginous complaints before surgery, 91% were improved or stable. Only one child felt somewhat worse, but, as with hearing loss, this was later than 6months after the surgery. 34 In yet another series of cases operated on for suspected perilymph fistula, ears with a surgically demonstrated fistula and sensorineural hearing loss had either flat or downward-sloping audiograms. At follow-up, vestibular symptoms were found to be eliminated or improved in 96% of cases with surgically demonstrated fistulae and in 68% of cases in which no fistula was detected at tympanotomy, but hearing improved significantly in only one ear (4%) of the former group and in five ears (20%) of the latter group.35 To conclude, perilymph fistulae can be a cause of hearing loss, vertigo or tinnitus and these symptoms may be fluctuant and possibly progressive. There is currently no good diagnostic test for a small fistula. In the paediatric population the most frequent cause is a congenital fistula. Severe or profound hearing loss is, in this instance, always associated with temporal bone anomalies when a perilymph/ CSF leak may be present with fluid behind the tympanic membrane. A defect in the stapes and continuity with the fundus of the internal auditory meatus is one such example. This can be found with a true Mondini deformity, in which case some hearing from the basal turn of the cochlea is possible. These cases will require surgical exploration and closure of the leak, not to improve or restore hearing but in an attempt to prevent subsequent meningitis. Traumatic perilymph fistulae with normal temporal bone anatomy are rare. They are described following head injury and penetrating injury to the middle ear with or without temporal bone fracture, but diagnosis is difficult.36 A persistent perilymph fistula following ear surgery requires re-exploration. Severe barotrauma can also produce a fistula from the round window or oval window. Clinical suspicion will lead to the decision to explore the ear surgically. More obvious bony erosion with fistula is not infrequently encountered in the presence of cholesteatoma. Exploration and closure of the fistula is indicated. Spontaneous perilymph fistula, in the absence of head injury, direct injury or barotrauma can be virtually discounted.
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Drug-induced vertigo or imbalance Ototoxic medications, in particular aminoglycosides, can cause marked vestibular dysfunction with acute vertigo at the time of administration or poor balance, ataxia and motor delay. These drugs might have been administered systemically prenatally to the mother or in postnatal life, but occasionally topically in the presence of a chronic perforation or grommets. Fortunately, however, hearing loss from systemic aminoglycosides given to an infant is unusual. Some degree of vestibular loss may be more common and underdiagnosed. Streptomycin and gentamicin are more selectively vestibulotoxic. In one study, children who had previously been treated with streptomycin commonly showed delay in walking.37 Antimalarials such as mefloquine, which is cleared only slowly from the body, can cause dizziness or hearing loss. Platinum-based cytotoxic agents can cause ototoxicity, usually high-tone hearing loss and tinnitus rather than dizziness.
Miscellaneous conditions with hearing loss Infectious aetiologies such as congenital cytomegalovirus (CMV) infection can include sensorineural hearing loss with vestibular symptoms and metabolic diseases such asHurler syndrome can be seen with a retrocochlear type of hearing loss and vestibular impairment. Herpes zoster oticus can occur in children.
PERSISTENT IMBALANCE AND ATAXIA: CENTRAL DISORDERS Toddlers may present with imbalance and a delay in motor development, or with a subsequent deterioration in vestibular function. They can have falls, fear of the dark, abnormal gait and vomiting. Primary developmental delay with motor delay and poor balance suggests a congenital or early acquired neurodevelopmental disorder, while regression of balance and locomotor function that was previously acquired indicates the need to exclude a space-occupying lesion such as meningioma or medulloblastoma. A family history of NF2 would raise suspicion. Any severe illness or even major surgery in a baby or smaller child will not infrequently lead to temporary loss of previously acquired skills such as the ability to walk.
ATAXIA Ataxia is a common mode of presentation of cerebellar, posterior column and vestibular disease in children. The aetiology of ataxia covers a broad range, from infections to rare hereditary metabolic diseases. The importance of recognizing potentially reversible conditions such as vitamin E deficiency and Refsum’s disease has been stressed. 38
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Hereditary cerebellar ataxia
Miscellaneous conditions
Hereditary cerebellar ataxia presents with a slowly progressive ataxia although a posterior fossa tumour must be excluded by imaging. Cerebellar disorders display a variety of inherited and sporadic causes. Advances in genetics have led to the successful classification of over 20forms of autosomal dominant and recessive cerebellar ataxia with variable phenotypes and have shed light on the underlying pathophysiology of many of these disorders. Successful disease-modifying or symptomatic treatments for these conditions, thus far, have remained limited. 39
Demyelination can present in post-pubertal children, in which case vertigo is quite commonly seen. NF2 with posterior fossa meningiomas or vestibular schwannoma are occasionally seen in children, and other intracranial posterior fossa lesions such as medulloblastoma may present with ataxia and vomiting.
Refsum’s disease Refsum’s disease is a disorder of lipid metabolism with pigmentary retinopathy, demyelinating neuropathy, ataxia and hearing loss. There is progressive difficulty in walking which develops between the ages of 4 and 7years. Insome cases the site of the hearing abnormality in Refsum’s disease may be ‘post-outer hair cells’.40
Infectious causes Infectious causes include Lyme disease. Viral infections include meningitis, Coxsackie A and B and echovirus; they can involve the central nervous system with vertigo, nystagmus and cerebellar signs. HIV infection is another possible cause. Bacterial infections include primary meningitis, labyrinthitis as a complication of meningitis or CSOM and tertiary or congenital syphilis.
TREATMENTS FOR VERTIGO
Charcot–Marie–Tooth disease
Medical treatments
The most common hereditary degenerative condition is Charcot–Marie–Tooth disease. Inheritance is autosomal dominant. Perineal muscle atrophy is usual, congenital sensorineural deafness is present in some cases and there can be vestibular weakness. These children develop spinal scolioses and pes cavus.41
The causative condition should be treated directly if possible. The mainstay of treatment, however, is usually an explanation to the parents and the child and reassurance. Symptomatically, vestibular sedatives can be helpful. Antihistamines such as cyclizine or cinnarizine can be taken for more prolonged attacks. Hyoscine patches have been advocated and domperidone is helpful for associated sickness. Use should be limited to acute attacks rather than for chronic symptoms. Dopamine antagonists including phenothiazines such as prochlorperazine are effective vestibular suppressants. However, there is a greater risk of extrapyramidal side effects when using phenothiazines, especially in children. They should be avoided in babies under 10 kg. Should these medications lead to extrapyramidal effects such as oculogyric crisis, it can be treated acutely with the antagonist, procyclidine, by injection. HT3 antagonists such as ondansetron are powerful antiemetics, which block serotonin binding at vagal afferents in the gut and in the regions of the central nervous system (CNS) involved in emesis, including the chemoreceptor trigger zone and the nucleus tractus solitarii. Although principally used in post-operative nausea and vomiting or with cytotoxic drug therapy, they may have a role in the vertiginous child, especially if vomiting. Attacks of vestibular migraine can be treated with domperidone, cinnarizine or cyclizine for nausea, vomiting or dizziness. Serotonin 5-HT1B/1D receptor agonists such as sumatriptan may be useful in management of headaches. Rizatriptan is reported to be more effective than other drugs of this class and other simple analgesics.14 Preventative measures, if necessary, would be those currently recognized– pizotifen or propanolol – and if those fail, a neurologist might prescribe the full range of antimigraine medications available to use in adults.16 Topiramate and flunairizine have randomized double-blind placebo-controlled trials in
Acute cerebellar ataxia Acute cerebellar ataxia occurs, usually in the first 3years of life, in a child who was previously normal. It follows a viral febrile illness a few weeks beforehand. There is sudden ataxia, and the condition may take a number of months to resolve or leave some permanent sequelae. Neuroimaging should be considered in all children with new-onset ataxia.42
Chiari malformations Type 1 Chiari malformation is characterized by cerebellar tonsil herniation through the foramen magnum. Children most commonly present with bilateral vocal cord paralysis and associated upper airway obstruction but they can also present with positional vertigo and a central type of nystagmus. The condition can be more severe and associated with syringomyelia, in which case there can be neurological improvement after foramen magnum surgical decompression. Type 1 may present to otolaryngologists. Type 2 Chiari malformation is the same as type 1, except that in addition there is a non-communicating hydrocephalus and lumbosacral spina bifida. Type 3 can have any of these features but with cervical or occipital bifida. Children with types 2 and 3 have widespread neurological abnormalities and are unlikely to attend ENT clinics.
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children that support their use, and there are open label studies in favour of sodium valproate.14 Menière’s disease may be treated with betahistine, a low-salt diet and possibly diuretics or intermittently by dehydration therapy such as glycerol taken orally. Surgery may occasionally be indicated in severe variants of the disease. The seizure disorders are usually well controlled with anticonvulsants under the paediatric neurologist’s guidance.
Physical treatments for vertigo If there is benign positional vertigo, the Epley manoeuvre (see Chapter 64, Benign paroxysmal positional vertigo) can be employed successfully. Other vestibular rehabilitation exercises for children who have suffered unilateral labyrinthine damage might be helpful in achieving full central compensation and in speeding recovery.
Surgery for vertigo Surgery relates to that indicated for specific underlying conditions. Unilateral glue ear with poor balance can be corrected by insertion of grommets (preferably bilaterally, the contralateral ear as a prophylactic measure). If there is a perilymph fistula from barotrauma, middle ear or mastoid disease, or following surgery, that should be explored and closed. Likewise, suppurative ear disease and congenital or acquired cholesteatoma will require tympanomastoid surgery. A perilymph/CSF fistula from congenital temporal bone anomalies should be closed surgically in an attempt to prevent future meningitis. Childhood-onset Menière’s disease tends to run an aggressive course with debilitating bilateral disease later in life. Destructive surgery is not advised at an early stage although endolymphatic sac decompression and drainage may have a role.
BEST CLINICAL PRACTICE ✓✓ A full history, neurotological examination and audiometry are required in assessing any child with vertigo. ✓✓ Middle ear disease and congenital sensorineural conditions with vestibular deficits should be excluded. ✓✓ Posterior fossa disease must be excluded where there is ataxia. ✓✓ In some cases, a full blood count, inflammatory markers, glucose, creatinine kinase, thyroid function and special serological tests are helpful. ✓✓ High-resolution CT scanning of the temporal bones and an MR brain scan are often indicated for dizziness with hearing loss. ✓✓ An MR brain scan is indicated for ataxic conditions.
✓✓ Special vestibular tests including bithermal caloric stimulation and rotational chair testing can be helpful in reaching a diagnosis and planning treatment. ✓✓ Referral to a paediatric neurologist is recommended if the diagnosis of a seizure disorder or basilar-type migraine is considered probable. ✓✓ Treatment should comprise explanation and reassurance about the condition and symptomatic medical treatment for the vertigo. ✓✓ Surgical treatment is recommended for significant balance disturbance with OME and for CSOM with cholesteatoma as well as for a persistent perilymph fistula from other causes.
FUTURE RESEARCH ➤➤ The value of bithermal caloric tests, videonystagmography and rotational chair tests has not been demonstrated in the varied paediatric population with vertigo. ➤➤ The benefit of vestibular rehabilitation exercises overencouraging straightforward everyday activities has not been studied in children’s treatment regimens.
➤➤ Motion sickness has been subject to observational studies and effects of drug treatments but further research into aetiology and other treatments could be profitable. ➤➤ The role and efficacy (if any) of HT3 antagonists such as ondansetron in the management of childhood vertigo has not been studied.
KEY POINTS • Vertigo results from a mismatch of three different sensory inputs for balance, i.e.vision, proprioception and the vestibular system. • Presentation of balance disorders in children differs from that in adults; very young children cannot complain of vertigo. • Fifty percent of cases of childhood dizziness and imbalance are caused by one of the three most common causes: BPV of childhood, migraine or OME.
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• Neurological disease is a rare cause of vertigo in children but must be recognized.
• Adult causes of vertigo are seen in older children/ adolescents.
• The mainstay of treatment is reassurance; symptomatic control with medication such as cinnarizine or antimigraine treatments is usually effective.
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15. Cass SP, Furman JM, Ankerstjerne JKP, et al. Migraine-related vestibulopathy. Ann Otol Rhinol Laryngol 1997; 106(3): 182–9. 16. MacGregor EA, Steiner TJ, Davies PTG. British Association for the Study of Headache. Guidelines for all healthcare professionals in the diagnosis and management of migraine, tension-type, cluster and medication-overuse headache. 2010 [cited 2013]. Available from: http://www.bash. org.uk 17. Ramelli GP, Sturzenegger M, DonatiF, Karbowski K. EEG findings during basilar migraine attacks in children. Electroencephal Clin Neurophysiol 1998; 107(5): 374–8. 18. Mierzwinski J, Pawlak-Osinska K, Kazmierczak H, et al. The vestibular system and migraine in children. Otolaryngol Pol 2000; 54(5): 537–40. 19. Wiener-Vacher SR. Vestibular disorders in children. Int J Audiol 2008; 47(9): 578–83. 20. Saka N, Imai T, Seo T, et al. Analysis of benign paroxysmal positional nystagmus in children. Int J Pediatr Otorhinolaryngol 2013; 77(2): 233–6. 21. Bachor E, Wright CG, Karmody CS. The incidence and distribution of cupular deposits in the pediatric vestibular labyrinth. Laryngoscope 2002; 112(1): 147–51. 22. Eviatar L, Bergtraum M, Randel RM. Posttraumatic vertigo in children: a diagnostic approach. Pediatr Neurol 1986; 2(2): 61–6. 23. Murphy JV, Dehkharghani F. Diagnosis of childhood seizure disorders. Epilepsia 1994; 35: S7–S17. 24. Panayiotopoulos CP. Elementary visual hallucinations, blindness, and headache in idiopathic occipital epilepsy: differentiation from migraine. JNeurol Neurosurg Psychiatry 1999; 66(4): 536–40. 25. Seki S IK, Watanabe K, Takahashi D. Three child cases of conversion disorders presented with psychogenic vertigo and gait disturbance. Equilibrium Research 2004; 63(4): 346–52. 26. Morrison AW, Johnson KJ. Genetics (molecular biology) and Meniere’s disease. Otolaryngol Clin North Am 2002; 35(3): 497–516. 27. Satar B, Mukherji SK, Telian SA. Congenital aplasia of the semicircular canals. Otol Neurotol 2003; 24(3): 437–46. 28. Madden C, Halsted T, Benton T, et al. Enlarged vestibular aqueduct syndrome in the pediatric population. Otol Neurotol 2003; 24(4): 625–32.
29. Madden C, Halsted MJ, Hopkin RJ, et al. Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome. Laryngoscope 2003; 113(11): 2035–41. 30. Lasak, JM, Welling D, Bradley MD. Theenlarged vestibular aqueduct syndrome: Current opinion. Otolaryngol Head Neck Surg 2000; 8: 380–3. 31. Minor LB. Superior canal dehiscence syndrome. Am J Otol 2000; 21(1): 9–19. 32. Hagiwara M, Shaikh JA, Fang YX, et al. Prevalence of radiographic semicircular canal dehiscence in very young children: an evaluation using high-resolution computed tomography of the temporal bones. Pediatr Radiol 2012; 42(12): 1456–64. 33. Rizer FM, House JW. Perilymph fistulas: The house ear clinic experience. Otolaryngol Head Neck Surg 1991; 104(2): 239–43. 34. Weber PC, Bluestone CD, Perez B. Outcome of hearing and vertigo after surgery for congenital perilymphatic fistula in children. Am J Otolaryngol 2003; 24(3): 138–42. 35. Vartiainen E, Nuutinen J, Karjalainen S, Nykanen K. Perilymph fistula: A diagnostic dilemma. JLaryngol Otol 1991; 105(4): 270–3. 36. Kim SH, Kazahaya K, Handler SD. Traumatic perilymphatic fistulas in children: etiology, diagnosis and management. Int J Pediatr Otorhinolaryngol 2001; 60(2): 147–53. 37. Camarda V, Moreno AM, Boschi V, et al. Vestibular ototoxicity in children: A retrospective study of 52 cases. Int J Pediatr Otorhinolaryngol 1981; 3(3): 195–8. 38. Gosalakkal JA. Ataxias of childhood. TheNeurologist 2001; 7(5): 300–6. 39. Blindauer KA. Cerebellar disorders and spinocerebellar ataxia. Continuum: Lifelong Learning in Neurology Movement Disorders 2004; 10: 154–73. 40. Oysu C, Aslan I, Basaran B, Baserer N. Thesite of the hearing loss in Refsum’s disease. Int J Pediatr Otorhinolaryngol 2001; 61(2): 129–34. 41. Sabir M, Lyttle D. Pathogenesis of Charcot-Marie-Tooth disease: Gait analysis and electrophysiologic, genetic, histopathologic, and enzyme studies in a kinship. Clinic Orthop Relat Res 1984; 1984(184): 223–35. 42. Whelan HT, Verma S, Guo Y, et al. Evaluation of the child with acute ataxia: a systematic review. Pediatr Neurol 2013; 49(1): 15–24.
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21 CHAPTER
FACIAL PARALYSIS IN CHILDREN S. Musheer Hussain
Introduction.................................................................................. 231 Embryology and applied anatomy of the facial nerve..................... 231 Diagnosis.....................................................................................232 Congenital facial paralysis............................................................233
Acquired facial paralysis...............................................................234 Idiopathic facial paralysis..............................................................237 Conclusion....................................................................................237 References...................................................................................238
SEARCH STRATEGY Data in this chapter may be updated by a PubMed search using the following keywords: facial paralysis, otitis media, congenital facial paralysis, ear trauma, facial nerve injury, granulomatosis with polyangitis, Bell’s palsy and parotid surgery. The focus was restricted to neonates and children.
INTRODUCTION Bell’s palsy remains the most common aetiology for facial paralysis in children1 although it is much less common than in adults. In their study of 170 patients aged from birth to 18years May et al. 2 found the following aetiology for facial paralysis: Bell’s 42%, trauma 21%, infections 13%, congenital 8% and neoplasm 2%. Bell’s palsy in children is considered to have a better prognosis than in adults, regardless of treatment.
EMBRYOLOGY AND APPLIED ANATOMY OF THE FACIAL NERVE Knowledge of the embryology and developmental anatomy of the facial nerve allows for a clear understanding of the various anomalies and clinical presentations of disorders of the facial nerve. By the third week of embryonic development the facioacoustic crest is visible on the dorsolateral aspect of the hindbrain just cranial to the otic placode. The otic placode forms the otocyst, giving rise to the membranous labyrinth in the fourth week and the facial nerve becomes distinct. The geniculate ganglion has formed by the fifth week (Figure 21.1). The facial nerve divides into its main trunk, descending into the second branchial arch and the chorda tympani, which being the pretrematic branch curves cranially into the first branchial arch (Figure21.1).
A pretrematic branch of a cranial nerve is one that supplies the arch preceding the arch to which the cranial nerve belongs. The chorda tympani and the main trunk of the facial nerve are equal in size at this stage. Malformations of the branchial arches are associated with anomalies of the chorda tympani such as elongation of the posterior canaliculus, reduplication and low position of the nerve.3–4 The facial nucleus is formed by neuroblasts in the pons, with the sixth nerve nucleus in close proximity. As the brain develops and the pons expands, the sixth nucleus ascends so that the facial nerve fibres have to whirl round the sixth nucleus forming an internal genu. Clinically, therefore,
V nerve Otocyst
Brain
Second arch
VII nerve First arch
Figure 21.1 Line diagram of the fetal head at 5weeks, showing the facial nerve.
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External ear canal Squamous bone Petrosquamosal suture
Mastoid process External auditory canal and tympanic ring
Squamous bone
Styloid process
Figure 21.2 Neonatal temporal bone.
Figure 21.3 Temporal bone of a 1-year-old child.
aninflammatory or vascular event in this part of the brain will necessarily involve both these nerves. In developmental anomalies such as Moebius syndrome there is agenesis of the facial nucleus and among other defects there is also agenesis of the sixth nucleus.5 The geniculate ganglion has a separate origin from the facial nerve.6 It is well defined by the seventh week and gives rise to the sensory roots that form the nervus intermedius. As the main facial trunk descends down the second branchial arch there is caudal movement of the first arch due to rapid expansion, producing the horizontal segment and the first and second genu of the vertical nerve with the greater superficial petrosal nerve acting as an anchor. Proctor and Nager’s seminal papers7,8 describe the many variations encountered in the vertical segment of the facial nerve including a bipartite nerve, an anteriorly displaced nerve or one with a posterior hump. Failure to appreciate an anomaly of the facial nerve during surgery can have serious consequences.9–12 Conditions related to malformations of the first or second arch such as Treacher Collins and Goldenhar syndromes will usually mean that the facial nerve is abnormal too. At birth the normal temporal bone has no mastoid process and an incomplete tympanic ring. The ‘U-shaped’ tympanic ring has nodular prominences on each arm, which separate the annulus from the future external canal and the foramen of Huschke (Figure21.2). By the end of the first postnatal year these processes fuse, lengthening the canal (Figure 21.3). The foramen usually closes some time later. The chorda tympani and the facial nerve may exit through the stylomastoid foramen in the newborn. The mastoid process and external auditory canal are undeveloped so the nerve is very superficial. The mastoid process develops and reaches adult proportions by the age of 12 years. In neonates and small children the second genu of the facial nerve is more acute and courses more laterally. The most common variation in the course of the facial nerve canal involves the tympanic segment; the bony wall may be dehiscent in 35–55% of the population particularly above the oval window.7, 8, 13, 14 Acute suppurative otitis media in
neonates and children may therefore present with facial paralysis from neuropraxia or bacterial infiltration of the nerve sheath within an enclosed middle ear. Dehiscence of this segment of the facial nerve may be associated with a persistent stapedial artery in its course from the tympanic cavity to the middle cranial fossa where this becomes the middle meningeal artery.15,16 The foramen spinosum is absent on the side of the persistent stapedial artery on plain X-ray or CT. On leaving the stylomastoid foramen the facial nerve enters the parotid gland in a more anterior location than in the adult, as the parotid gland is smaller and more anteriorly placed.17 The nerve divides into two main divisions and these give rise to branches that supply the face and the upper neck muscles. The lower division of the facial nerve in young children runs very superficially over the angle of the mandible and can be damaged by a skin incision during surgery. Surgery of the parotid region in children requires an understanding of the differences between adult and child facial nerve topography (Table21.1).
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DIAGNOSIS This is discussed in general terms in this section. Individual conditions are covered under separate headings.
History taking and examination A detailed clinical assessment is important in the diagnosis of facial paralysis. There may be good muscle tone so that it is difficult to identify the paralysis until the child cries. Associated symptoms that teenagers with facial paralysis may volunteer will not be available in a younger child. Careful attention to the mother’s story will be rewarding. Examination should include careful assessment of each branch of the facial nerve and whether the paralysis is complete or incomplete. The forehead wrinkles are absent and the eyebrow droops in lower motor neuron paralysis. The lower lid tends to fall away from the globe with tears
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21: FACIAL PARALYSIS IN CHILDREN 233 TABLE 21.1 Differences in the anatomical relationship of the facial nerve in adults and children Feature
Child
Adult
Mastoid process and tympanic ring
Absent mastoid process and incomplete tympanic ring. The chorda tympani may exit through the stylomastoid foramen with the main trunk in the neonate
Mastoid process present and tympanic ring is complete by adolescence. The chorda tympani exits separately and proximal to the stylomastoid foramen
Second genu of facial nerve
Second genu of the facial nerve is more acute and more lateral
Second genu of the facial nerve is less acute and more medial
Position of nerve trunk
Nerve trunk on exit from the stylomastoid foramen Parotid is more posteriorly placed and the nerve is more anterior and lateral trunk is less anterior and deeper
Position of nerve
Nerve very superficial over the angle of the mandible
collecting in the eye and spilling onto the face. The cheek may sag and the nasolabial fold may be lost. Speech may change as plosives are distorted with air blowing out on the paralysed side. The appearance of the non-paralysed side of the face is also characteristic as unbalanced muscle action accentuates the difference. The House Brackmann grading is limited but has the advantage of being widely known and may be used in children. Otoscopy is usually possible in even the smallest baby and signs of inflammation should be looked for in the head and neck. Other anomalies of the head and neck and the cranial nerves are noted.
Nerve less superficial over the angle of the mandible
CONGENITAL FACIAL PARALYSIS
Imaging of the facial nerve in children may be useful in delineating the site of neural injury. Indications include persistent paralysis, trauma and suspected nerve involvement in systemic diseases. MRI is the only modality that demonstrates the facial nerve comprehensively from the pons to the parotid gland; with gadolinium enhancement it is capable of showing inflammatory changes. CT makes it possible to see bony detail and is ideal when facial nerve involvement is in the middle ear cleft.
Syndromic and non-syndromic forms of developmental facial paralysis occur. These may be unilateral or bilateral, complete or incomplete. Prognosis is poor. 20, 21 Craniofacial anomalies associated with the first and second arch derivatives are common in this form of facial paralysis. Nerve exploration is unrewarding in this situation. 22 Reanimation may be considered. There is a wide range of procedures for reanimation; the most desired neural tissue source for rejuvenation of the paralysed face is direct reanastomosis or interpositional grafting. Carr et al. 23 reviewed 186 children with congenital facial paralysis (60% male and 85% with bilateral paralysis) and found 29 in whom reanimation was performed (24females and 5 males). All 5 males and 9 females had unilateral isolated facial nerve paralysis. Fourteen females had bilateral paralysis; only half of these were isolated. Other involved cranial nerves included abducens, hypoglossal, oculomotor and trochlear. The cranial nerve least likely to be involved was the accessory nerve, suggesting that this may be a reliable donor for reanimation procedures. As previously stated, early reanimation is advised by Glassock and Shambaugh19 if muscle is found on biopsy in neonates with facial paralysis when electromyography is silent.
ELECTROPHYSIOLOGICAL TESTS
Moebius syndrome
Electrophysiological tests allow objective assessment of function. Eavey et al.18 found that 95% of children can be successfully tested with electroneurography (ENoG). Waveform amplitude and morphology were consistent with adult values except in infants. The most clinically helpful use of this test is to objectively assess facial nerve function, once spontaneous motion is lost in acquired paralysis or if it had never been seen in congenital paralysis. The authors maintain that the test is not an absolute predictor for return of function but that the added data when used with clinical information make assessment of prognosis more rational. Glassock and Shambaugh19 recommend a muscle biopsy in neonates with facial paralysis when the electromyography is silent. If muscle is found early, reanimation is advisable.
Moebius syndrome is a rare cause of facial paralysis in neonates. It is characterized by the absence or underdevelopment of the sixth and seventh cranial nerves. It may be unilateral or bilateral. Agenesis of the facial nucleus is suspected, hence the sixth nerve involvement. Other cranial nerves may also be involved. Autism and mental retardation may be seen in a third of these patients.5
Investigations IMAGING
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Goldenhar syndrome Goldenhar syndrome (oculo-auriculo-vertebral dysplasia) is a wide spectrum of congenital anomalies that involves structures arising from the first and second branchial arches. 24 Involvement of the internal auditory meatus and the eighth nerve has been reported 25 as well as progressive hearing loss. 26
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Asymmetric crying facies Congenital asymmetric crying facies is an uncommon condition caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle on one side of the mouth. Although the functional deficit is small, the anomaly may be associated with cardiovascular, head and neck, musculoskeletal, respiratory, gastrointestinal, central nervous system or genitourinary anomalies in 45% of cases. 27
CHARGE syndrome The acronym CHARGE is used to describe specific congenital birth defects in children: colobomata, heart defect, atresia of the choanae, retarded development, genital hypoplasia, and ear anomalies and hearing loss. Facial nerve dysfunction has been noted in 38% of patients, 28 and an aberrant course may interfere with cochlear implantation. 29 Many children with the CHARGE association also have feeding and swallowing difficulties, and facial paralysis and pharyngeal in-coordination may be important diagnostic indicators of CHARGE association.30
(a)
Familial facial paralysis Familial congenital facial paralysis has been reported in three male members from three generations in a family. 31 The paralysis becomes more pronounced with every successive generation.
Widening of the facial canal Widening of the facial canal has been reported as a cause of multiple ipsilateral facial palsy in a child of 13months. 32 The child had recurrent fever and facial palsy and the facial nerve appeared thickening in the widened canal, said to be the result of pressure from inflammation and oedema.
ACQUIRED FACIAL PARALYSIS Infections ACUTE OTITIS MEDIA Acute otitis media in neonates and children gives rise to facial paralysis (Figure 21.4a). This is usually incomplete but the paralysis may progress in the first 2–3days of onset. There is suppuration in the middle ear behind an intact tympanic membrane, which may appear red and bulging (Figure 21.4b). The child may be toxic but is typically not unwell. In some cases where antibiotics have been given, the signs of acute inflammation may not be pronounced. The underlying pathology may be an erosion of the bony Fallopian canal or congenital dehiscence and nerve inflammation. Spread along structures such as the stapedial tendon, chorda tympani or posterior tympanic artery has been suggested. Moreano et al.14 studied 1000 temporal bones and noted at least one facial canal dehiscence in 56% of temporal bones with the most common site of dehiscence
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(b)
Figure 21.4 (a)Facial paralysis in a neonate caused by acute otitis media; (b) the state of the eardrum.
being the oval window area. They introduced the concept of micro-dehiscence of the facial canal and found this in one third of the temporal bones. The most common pathogen in middle ear cleft infections in children is pneumococcus33 (80%). A wide myringotomy and systemic antibiotics is the initial treatment. If mastoiditis is suspected, a CT scan and a cortical mastoidectomy may be needed. There is usually full recovery of facial nerve function.
CHRONIC OTITIS MEDIA Facial paralysis in chronic otitis media is very uncommon. Sheehy et al.34 report 11 cases of facial paralysis out of 1024 patients with chronic middle ear disease and cholesteatoma. Complications of chronic middle disease including facial paralysis are more common in the developing world.35
LYME DISEASE This multisystem disease is caused by the tick-borne spirochaete Borrelia burgdorferi. 36 The incubation period is
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1–4weeks before a skin lesion appears. Ipsilateral or bilateral facial paralysis may appear weeks or months later in 11% of cases.37 A report from Connecticut, an endemic area, describes Lyme disease as the cause of over 50% of facial paralysis in children.38 Serological tests with ELISA (enzyme-linked immunosorbent assay) to detect IgG and IgM antibodies are used for diagnosis. Doxycycline is the oral antibacterial of choice, while amoxicillin and cefuroxime are alternatives that may be preferred in young children. Tick avoidance has long been the mainstay for preventing Lyme disease.39
VIRAL INFECTIONS Recrudescence of Herpes zoster virus in the geniculate ganglion leads to the classical syndrome of Ramsay Hunt. The disease is uncommon in children. Hato et al.40 in a retrospective study of 52children with Ramsay Hunt syndrome found that facial paralysis was milder, complete recovery of the function more likely (79%) and associated cranial neuropathies less common in children than in adults. The timing of vesicle appearance tended to be delayed in children. The disease was rare in preschool children but relatively more common in older children. Treatment with oral or intravenous acyclovir and prednisolone has been recommended.41–43 Facial paralysis has been noted in Epstein–Barr virus infection and this may be bilateral in 40% of cases.44 Facial palsy is an early ENT manifestation of HIV infection and is seen in 11% of cases.45
TUBERCULOSIS The presence of facial paralysis with purulent otorrhoea that does not respond to conventional antibiotics should alert the physician to the possibility of tuberculosis. Antituberculous chemotherapy early in the disease may reduce the need for radical surgery46,47 and complications of otitis media.48 CT scan is reported to be of value in the diagnosis of facial paralysis due to tuberculosis.49
Traumatic BLUNT TRAUMA Perinatal trauma Birth-related trauma is a known cause of facial paralysis. The incidence of facial palsy in the newborn is 1.8 in 1000, the majority associated with forceps delivery. 50 In their report on neonatal facial paralysis, Smith et al.51 found 74 out of 95cases to be secondary to trauma associated with pregnancy and delivery. The diploic bone of the infant mastoid process, the paper-thin bone covering the facial nerve and the very superficial position of the marginal mandibular branch over the mandible all add to the problem. The pressure of the mother’s sacrum on the infant facial nerve may also contribute. In differentiating between congenital and perinatally acquired facial paralysis, the history and physical examination usually suffice. A history of forceps delivery, ababy
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kg, a primipara mother, prolonged weighing over 3.5 labour and the absence of associated craniofacial anomalies point to perinatal trauma as the cause. The presence of bruising of the side of the face and the mastoid region are suggestive of birth trauma, as are other complications associated with birth. Electrophysiological tests may be used to aid diagnosis; voluntary action potentials on electromyography (EMG) indicate muscle innervation. EMG performed after 10 days of paralysis will show fibrillation or polyphasic potential in traumatic cases and absent electrical activity in congenital facial paralysis. 52 A CT scan may show a concealed fracture of the temporal bone.
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Temporal bone fracture An injury to the skull may cause temporal bone fracture. The fracture may be longitudinal or transverse or a combination of both. Classically, longitudinal fractures cause conductive hearing loss whereas transverse fractures usually cause irreversible sensorineural deafness. A third of fractures are transverse and these have associated facial paralysis in 50% of cases. Longitudinal fractures are more common and, although the incidence of facial paralysis is less (20%), longitudinal fractures cause more facial paralysis than transverse fractures. As discussed under embryology, the greater superficial petrosal nerve in the region of the geniculate ganglion tethers the facial nerve. In head injury the sudden deceleration creates a shearing force on the facial nerve leading to damage. Lee et al.53 reviewed 72 children with temporal bone fractures ranging from 6 months to 14 years of age, with a bimodal distribution with peaks at 3years and 12years of age. The most common causes of fractures were motor vehicle accidents (47%), falls (40%), biking accidents (8%) and blows to the head (7%). Common presenting signs and symptoms53 include hearing loss (82%), haemotympanum (81%), loss of consciousness (63%), intracranial injuries (58%), bloody otorrhea (58%), extremity fractures (8%) and facial nerve weakness (3%). The diagnosis of temporal bone fractures is best made clinically and radiographically. The early care of temporal bone fractures is directed towards the treatment of CSF otorrhoea and immediateonset facial paralysis. The delayed care is primarily concerned with hearing rehabilitation. 55 Another classification56 of temporal bone fractures is based on otic capsule sparing (OCS) and otic capsule violating (OCV) fractures. The otic capsule is spared in 90% of fracture and is a predictor of the absence of sensorineural hearing loss. However, conductive hearing loss or facial paralysis cannot be predicted by the OCS/OCV classification. Surgical exploration as an option remains controversial, with no randomized controlled study. It does seem reasonable, however, to explore when nerve entrapment is suspected or where the integrity of the nerve is compromised.
PENETRATING TRAUMA Injury to the face may damage the facial nerve or one or more of its branches. This may be the result of falling
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onto a sharp object or a dog bite. The wound needs to be explored and the degree of damage established. This will allow repair with the functioning distal branches in a clean wound. Local control of infection should precede repair in a contaminated wound.
IATROGENIC TRAUMA Ear surgery Mastoid surgery in children caries a higher risk of injury to the facial nerve, even in experienced hands. This is due to the absence of the mastoid process in small children and the superficial position of the facial nerve, which is at risk from a low incision. The operating space within the mastoid cleft is small and, if in addition an anomaly is encountered, the problems multiply. The injury may not be identified at the time of surgery and may become obvious when the patient is awake.57 The commonest site of injury is the tympanic segment and the second genu of the nerve.58,59 Anomalies of the facial nerve encountered in patients with congenital malformation of the middle ear include displacement of the nerve and lack of bony cover.10 A low-lying tegmen in a sclerotic mastoid is particularly serious and requires skill to protect the nerve at the second genu when drilling in this restricted area. Thepresence of granulating disease in revision surgery may obscure the usual landmarks and put the nerve at risk. Erosion of the bone by cholesteatoma and its spread to the supra tubal recess 59 puts the geniculate ganglion and the first genu of the facial nerve at risk of injury during disease clearance in the anterior attic. In patients with atresia or stenosis of the external canal the facial nerve may be damaged in its vertical segment due to the vertical segment being relatively lateral to the tympanic annulus. Intra-operative monitoring is advisable. Injury to the facial nerve and the chorda tympani are recognized complications of cochlear implantation surgery.60–62
(a)
(b)
Figure 21.5 Non-tuberculous mycobacteria (NTM) of the parotid. (a)Presurgery; (b)1week after surgery with preservation of the facialnerve.
to preserve the facial skin and the nerve (Figure 21.5) (seeChapter37, Cervicofacial infections). Branchial cleft sinus and fistula excision
Parotid surgery The superficial course of the facial nerve in infants and the underdevelopment of surrounding structures mean that the standard techniques for identification of the facial nerve trunk in adults could jeopardize the nerve in children. An alternative technique for identifying the facial nerve has been proposed by Farrior et al.17 Anatomic dissections demonstrate that the facial nerve trunk can be consistently found in a triangle formed by the sternocleidomastoid muscle, posterior belly of the digastric muscle and the cartilaginous ear canal. As in the adult, the nerve canal can be identified in the mastoid cavity and followed into the neck. Unlike in the adult, it is inadvisable to use retrograde dissection of the marginal mandibular branch to find the trunk. If surgery is considered for non- tuberculous mycobacteria (NTM) of the intraparotid and adjacent lymph nodes, very careful dissection is required
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The variable relationship of the branchial cleft sinus and fistula with the facial nerve makes the nerve vulnerable to injury during surgery. Very careful dissection with intra-operative monitoring is required. D’Souza et al. 63 reviewed the available English, French and German literature between 1923 and 2000 and found 158cases with fistulae and sinuses. The fistulous tracts were more likely to lie deep to the facial nerve compared with sinus tracts. Lesions with openings in the external auditory meatus were associated with a tract superficial to the facial nerve. Younger children were more likely to have a deep tract with consequent increased risk of facial nerve damage. The fistula may be found anywhere alongthe anterior border of the sternocleidomastoid muscle. 64 Solares et al.65 in their report on ten patients with a mean age of 9 years found seven lesions medial to the
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facial nerve, two lateral and one between branches of the facial nerve. (See also Chapter41, Cysts and sinuses of the head and neck.)
Neoplasms In children the two commonest causes of facial paralysis from malignancy are leukaemic infiltration of the temporal bone66, 67 and rhabdomyosarcoma of the head and neck.68–70 An intracranial tumour may present with facial palsy. Levy et al.71 describe a case of acute mastoiditis and facial paralysis in a 5-year-old girl where the diagnosis of leukaemic infiltration of the middle ear cleft was made only after surgery and histological examination. Chemotherapy or combined chemo- and radiotherapy are the treatment of choice in known leukaemic patients without symptoms of superimposed infection of the ear or the mastoid process. Surgical management is restricted to cases in which tissue for histological diagnosis is required or drainage of acute infection is needed. A T-cell lymphoblastic lymphoma in the middle ear has been reported,72 presenting with headaches, hearing loss and facial palsy in an 11-year-old that responded to intensive chemotherapy. In the Durve et al.68 series of 14 patients the median age at presentation of rhabdomyosarcoma was 4.5years with a mean time of onset of symptoms to diagnosis of 21 weeks. Symptoms mimicked those of chronic otitis media, delaying diagnosis. The histological subtype was embryonal in 13 patients and alveolar in 1. All patients underwent multimodality treatment; the 5-year diseasefree survival rate was 81%. Facial paralysis was the commonest regional post-treatment morbidity (8/14). The presence of facial paralysis and lymphadenopathy or a mass with aural discharge, hearing loss and aural polyp should prompt urgent investigation and biopsy. Benign neoplasm of the facial nerve is very rare in children. Facial paralysis from an intracranial neoplasm is uncommon.
IDIOPATHIC FACIAL PARALYSIS Bell’s palsy Bell’s palsy is the commonest cause of facial paralysis during childhood (42%). 2 It is an acute unilateral lower motor neuron facial paralysis diagnosed by exclusion. It is essential that otoscopy is normal, that there is no middle ear infection and that the hearing is not impaired. There is a body of opinion that attributes Bell’s to infection by herpes virus due to a reactivation of latent Herpes simplex virus within the geniculate ganglion though the evidence for this is uncertain. There is a family history of Bell’s palsy in a small number of patients and occasionally a viral prodrome. Steroids are advocated in the acute stage for adults, with good evidence from a large randomized controlled trial
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to support this.73 There is little evidence either way for children, however, and since the recovery rate is so high in children regardless of treatment (90%), it has been suggested that steroid administration is not required in children.74
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Melkersson–Rosenthal syndrome In Melkersson–Rosenthal syndrome, episodes of facial paralysis begin in early childhood or adolescence, predominately in the second decade of life. There is swelling of the lips, palatal mucosa and face, and the tongue is fissured.75 The facial weakness usually takes a recurring course and is seen in 20% of cases. A conservative approach is usually recommended. A preliminary report suggesting facial nerve decompression for recurrent facial paralysis in Melkersson–Rosenthal syndrome has recently been further substantiated.76–79
Granulomatosis with polyangiitis Granulomatosis with polyangiitis (formerly known as Wegener’s granulomatosis) is a systemic disease characterized by the classical triad of vasculitis, necrosis and granulomatous inflammation usually of the upper and lower respiratory tract and the kidneys. Primary otological presentation occurs in 20–25% of patients80 and this includes facial paralysis.81 Ahigh index of suspicion, ESR, cANCA and histopathology help diagnose this condition. Combination therapy with corticosteroids and cyclophosphamide is given and cotrimoxazole may be used in the long term to reduce remissions.82
Hypertension Hypertension is a rare cause of facial paralysis in children. Misdiagnosis may lead to serious consequences, as reported by Aynaci and Sen83 in a case of a hypertensive child with facial paralysis. Bell’s palsy was suspected and steroids were given, resulting in hypertensive pontine haemorrhage. Recurrent alternating facial paralyses have been reported in a child with hypertension. Antihypertensive treatment and control lead to cessation of further relapse.84 A recent systematic review of facial palsy in patients with hypertension found 26 cases, of which 23 were children.85 The palsy is usually unilateral and may recur in a quarter of cases.
CONCLUSION The management of facial palsy in children includes treatment for eye exposure, smile asymmetry, drooling and lack of labial function and synkinesis. Free tissue transfer dynamic restoration is the preferred method for smile restoration86 in this population. The outcomes are apparently better than in adults.
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BEST CLINICAL PRACTICE ✓✓ MRI is the only imaging modality that demonstrates the facial nerve comprehensively from the pons to the parotid gland; with gadolinium enhancement it is capable of showing inflammatory changes. ✓✓ Electroneurography is a useful adjunct to clinical findings in predicting recovery from facial nerve palsy. ✓✓ In facial palsy secondary to acute otitis media optimum management is wide myringotomy and systemic antibiotics.
✓✓ Congenital and acquired facial paralysis in the neonate can be differentiated on the basis of examination supplemented as required by electrophysiologic investigations. ✓✓ It is standard practice to have facial nerve monitoring during parotid and tympanomastoid surgery in children with a high incidence of anatomical abnormalities of the facial nerve, e.g. Down syndrome, craniofacial anomalies. ✓✓ Retrograde dissection of the marginal mandibular branch of the facial nerve to find the trunk is particularly unreliable in children.
FUTURE RESEARCH ➤➤ The treatment for facial paralysis in children remains largely empirical; randomized controlled trials may help answer some of the questions. In view of the small number of cases and the generally good prognosis, multicentred trials with sufficiently large numbers of cases are required.
➤➤ The currently available monitoring systems for facial nerve function during surgery lack total reliability and are limited in scope.
KEY POINTS • The commonest cause of facial paralysis in children is Bell’s
• These differences and the confined surgical space can
palsy. • Knowledge of the embryology and developmental anatomy of the facial nerve allows for a clear understanding of the various anomalies and clinical presentations of disorders of the facial nerve. • There are important anatomical differences between the topography of the facial nerve in adults and children.
make tympanomastoid surgery and surgery of the parotid region in children particularly challenging. Surgeons operating in children must be extra vigilant to avoid iatrogenic facial palsy. • The management of facial palsy in children includes treatment for eye exposure, smile asymmetry, drooling and lack of labial function and synkinesis.
REFERENCES 1. Lin JC, Ho KY, Kuo WR, et al. Incidence of dehiscence of the facial nerve at surgery for middle ear cholesteatoma. Otolaryngol Head Neck Surg 2004; 131: 452–6. 2. May M, Fria TJ, Blumenthal F, Curtin H. Facial paralysis in children: differential diagnosis. Otolaryngol Head Neck Surg 1981; 89: 841–8. 3. Leng TJ. Malformations of chorda tympani nerve. Lin Chuang Er Bi Yan Hou Ke Za Zhi 2000; 14: 308–10. 4. Kraus P, Ziv M. Incus fixation due to congenital anomaly of chorda tympani. Acta Otolaryngol 1971; 72: 358–60. 5. Strömland K, Sjögreen L, Miller M, et al. Möbius syndrome: A Swedish multidiscipline study. Eur J Paediatr Neurol 2002; 6: 35–45. 6. D’Amico-Martel A, Noden DM. Contributions of placodal and neural crest cells to avian cranial peripheral ganglia. Am J Anat 1983; 166: 445–68. 7. Nager GT, Procter B. The facial canal: normal anatomy, variations and anomalies. II. Anatomical variations and anomalies involving the facial canal. Ann Otol Rhinol Laryngol 1982; 97: 45–61. 8. Procter B, Nager GT. The facial canal: normal anatomy, variations and anomalies. I. Normal anatomy of the facial canal. Ann Otol Rhinol Laryngol Suppl 1982; 97: 33–44.
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9. Raine CH, Hussain SSM, Khan S, SetiaRN. Anomaly of the facial nerve and cochlear implantation. Ann Otol Rhinol Laryngol Suppl 1995; 166: 430–1. 10. Jahrsdoerfer RA. The facial nerve in congenital middle ear malformations. Laryngoscope 1981; 91: 1217–25. 11. Glastonbury CM, Fischbein NJ, Harnsberger HR, et al. Congenital bifurcation of the intratemporal facial nerve. Am J Neuroradiol 2003; 24: 1334–7. 12. Al-Mazrou KA, Alorainy IA, Al-DousarySH, Richardson MA. Facialnerve anomalies in association with congenital hearing loss. IntJ Pediatr Otorhinolaryngol 2003; 67:1347–53. 13. Baxter A. Dehiscence of the fallopian canal: an anatomical study. J Laryngol Otol 1971; 85: 587–94. 14. Moreano EH, Paparella MM, ZeltermanD, Goycoolea MV. Prevalence of facial canal dehiscence and of persistent stapedial artery in the human middle ear: a report of 1000 temporal bones. Laryngoscope 1994; 104: 309–20. 15. Guinto FC, Garrabrant EC, Radcliff WB. Radiology of the persistent stapedial artery. Radiology 1972; 105: 365–9. 16. Pahor AL, Hussain SSM. Persistent stapedial artery. J Laryngol Otol 1992; 106: 254–7.
17. Farrior JB, Santini H. Facial nerve identification in children. Otolaryngol Head Neck Surg 1985; 93: 173–6. 18. Eavey RD, Herrmann BS, Joseph JM, Thornton AR. Clinical experience with electroneurography in the pediatric patient. Arch Otolaryngol Head Neck Surg 1989; 115: 600–7. 19. Glassock ME, Shambaugh GE. Surgery of the ear. Philadelphia: W.B. Saunders; 1990, pp.441–2. 20. Harris JP, Davidson TM, May M, Fria T. Evaluation and treatment of congenital facial paralysis. Arch Otolaryngol Head Neck Surg 1983; 109: 145–51. 21. Toelle SP, Boltshauser E. Long-term outcome in children with congenital unilateral facial nerve palsy. Neuropediatrics 2001; 32: 130–5. 22. Jervis PN, Bull PD. Congenital facial nerve agenesis. J Laryngol Otol 2001; 115: 53–4. 23. Carr MM, Ross DA, Zuker RM. Cranial nerve defects in congenital facial palsy. JOtolaryngol 1997; 26: 80–7. 24. Berker N, Acaroglu G, Soykan E. Goldenhar’s Syndrome (oculo-auriculovertebral dysplasia) with congenital facial nerve palsy. Yonsei Med J 2004; 45: 157–60. 25. Yanagihara N, Yanagihara H, KabasawaI. Goldenhar’s syndrome associated with anomalous internal auditory meatus. JLaryngol Otol 1979; 93: 1217–22.
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21: FACIAL PARALYSIS IN CHILDREN 239 26. Parving A. Progressive hearing loss in Goldenhar’s syndrome. Scand Audiol 1978; 7: 101–3. 27. Caksen H, Odabas D, Tuncer O, et al. Review of 35cases of asymmetric crying facies. Genet Couns 2004; 15: 159–65. 28. Shah UK, Ohlms LA, Neault MW, et al. Otologic management in children with the CHARGE association. Int J Pediatr Otorhinolaryngol 1998; 44: 139–47. 29. Bauer PW, Wippold FJ 2nd, GoldinJ, Lusk RP. Cochlear implantation in children with CHARGE association. ArchOtolaryngol Head Neck Surg 2002; 128: 1013–17. 30. Byerly KA, Pauli RM. Cranial nerve abnormalities in CHARGE association. Am J Med Genet 1993; 45: 751–7. 31. Kondev L, Bhadelia RA, Douglass LM. Familial congenital facial palsy. Pediatr Neurol 2004; 30: 367–70. 32. Andreassen CS, Ovesen T. Multiple recurrences of ipsilateral facial palsy in a patient with widening of the facial canal. Int J Ped Otorhinolaryngol 2015; 17: 274–7. 33. Moriniere S, Lanotte P, Celebi Z, et al. Mastoïdite aiguë de l’enfant. La Presse Medicale 2003; 32: 1445–9. 34. Sheehy JL, Brackmann DE, Graham MD. Cholesteatoma surgery: residual and recurrent disease. A review of 1024 cases. Ann Otol Rhinol Laryngol 1977; 86: 451–4. 35. Mathews TJ. Acute and acute-on-chronic mastoiditis: a five-year experience at Groote Schuur Hospital. J Laryngol Otol 1988; 102: 115–17. 36. Burgdorfer W, Barbour AG, Hayes SF, etal. Lyme disease: A tick borne spirochetosis? Science 1982; 216: 1317–19. 37. Clark JR, Carlson RD, Sasaki CT, etal. Facial paralysis in Lyme disease. Laryngoscope 1985; 95: 1341–5. 38. Siwula JM, Mathieu G. Acute onset of facial nerve palsy associated with Lyme disease in a 6-year-old child. Pediatr Dent 2002; 24: 572–4. 39. Eppes SC. Diagnosis, treatment, and prevention of Lyme disease in children. Paediatr Drugs 2003; 5: 363–72. 40. Hato N, Kisaki H, Honda N, et al. Ramsay Hunt syndrome in children. Herpes zoster syndrome. Ann Neurol 2000; 48: 254–6. 41. Dickins JR, Smith JT, Graham SS. Herpes zoster oticus: treatment with intravenous acyclovir. Laryngoscope 1988; 98: 776–9. 42. Stafford FW, Welch AR. The use of acyclovir in Ramsay Hunt syndrome. JLaryngol Otol 1986; 100: 337–40. 43. Kansu L1, Yilmaz I. Herpes zoster oticus (Ramsay Hunt syndrome) in children: case report and literature review. Int J Pediatr Otorhinolaryngol 2012; 76: 772–6. 44. Terada K, Niizuma T, Kosaka Y, et al. Bilateral facial nerve palsy associated with Epstein–Barr virus infection with a review of the literature. Scand J Infect Dis 2004; 36: 75–7. 45. Ndjolo A, Njock R, Ngowe NM, etal. Early ENT manifestations of HIV infection/AIDS: An analysis of 76cases observed in Africa. Rev Laryngol Otol Rhinol (Bord) 2004; 125: 39–43. 46. Saunders NC, Albert DM. Tuberculous mastoiditis: when is surgery indicated? Int J Pediatr Otorhinolaryngol 2002; 65: 59–63. 47. Weiner GM, O’Connell JE, Pahor AL. The role of surgery in tuberculous mastoiditis: appropriate chemotherapy is not always enough. J Laryngol Otol 1997; 111: 752–3.
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48. Hwang GH, Jung JY, Yum G, Choi J. Tuberculous otitis media with facial paralysis combined with labyrinthitis. Korean J Audiol 2013; 17: 27–9. 49. Hadfield PJ, Shah BK, Glover GW. Facial palsy due to tuberculosis: the value of CT. Laryngol Otol 1995; 109: 1010–12. 50. Falco NA, Eriksson E. Facial nerve palsy in the newborn: incidence and outcome. Plast Reconstr Surg 1990; 85: 1–4. 51. Smith JD, Crumley RL, Harker LA. Facial paralysis in the newborn. Otolaryngol Head Neck Surg 1981; 89: 1021–4. 52. Frances HW. Facial nerve emergencies. In: Eisele DW, McQuone SJ (eds). Emergencies of the head and neck. StLouis: Mosby; 2000, pp.337–66. 53. Lee D, Honrado C, Har-El G, GoldsmithA. Pediatric temporal bone fractures. Laryngoscope 1998; 108: 816–21. 54. Liu-Shindo M, Hawkins DB. Basilar skull fractures in children. Int J Ped Otolaryngol 1989; 17: 109–17. 55. Cannon CR, Jahrsdoerfer RA. Temporal bone fractures: review of 90 cases. Arch Otolaryngol Head Neck Surg 1983, 109: 285–8. 56. Dunklebarger J, Branstetter B 4th, LincolnA, et al. Pediatric temporal bone fractures: current trends and comparison of classification schemes. Laryngoscope 2014; 124: 781–4. 57. Green JD Jr, Shelton C, Brackmann DE. Iatrogenic facial nerve injury during otologic surgery. Laryngoscope 1994; 104: 922–6. 58. Graham MD. Prevention and management of iatrogenic facial palsy. Am J Otol 1984; 5: 513. 59. Horn KL, Brackmann DE, Luxford WM, Shea JJ 3rd. The supratubal recess in cholesteatoma surgery. Ann Otol Rhinol Laryngol 1986; 95: 12–15. 60. House JR 3rd, Luxford WM. Facial nerve injury in cochlear implantation. Otolaryngol Head Neck Surg 1993; 109: 1078–82. 61. Miyamoto RT, Young M, Myres WA, etal. Complications of pediatric cochlear implantation. Eur Arch Otorhinolaryngol 1996; 253: 1–4. 62. Luetje CM, Jackson K. Cochlear implants in children: what constitutes a complication? Otolaryngol Head Neck Surg 1997; 117: 243–7. 63. D’Souza AR, Uppal HS, De R, Zeitoun H. Updating concepts of first branchial cleft defects: a literature review. Int J Pediatr Otorhinolaryngol 2002; 62: 103–9. 64. Hussain SSM, Mclay KA. Otolaryngology, head and neck surgery. In: Eremin O (ed.). The scientific and clinical basis of surgical practice. Oxford: Oxford University Press; 2001, pp.620–1. 65. Solares CA, Chan J, Koltai PJ. Anatomical variations of the facial nerve in first branchial cleft anomalies. Arch Otolaryngol Head Neck Surg 2003; 129: 351–5. 66. Lilleyman JS, Antoniou AG, Sugden PJ. Facial nerve palsy in acute leukaemia. Scand J Haematol 1979; 22: 87–90. 67. Zappia JJ, Bunge FA, Koopmann CF Jr, McClatchey KD. Facial nerve paresis as the presenting symptom of leukemia. Int J Pediatr Otorhinolaryngol 1990; 19: 259–64. 68. Durve DV, Kanegaonkar RG, Albert D, Levitt G. Paediatric rhabdomyosarcoma of the ear and temporal bone. Clin Otolaryngol 2004; 29: 32–7.
69. Jan MM. Facial paralysis: a presenting feature of rhabdomyosarcoma. IntJ Pediatr Otorhinolaryngol 1998; 46: 221–4. 70. Holoborow CA, White LL. Embryonic sarcoma (rhabdomyosarcoma) of the nasopharynx presenting with facial palsy. J Laryngol Otol 1958; 72: 157–65. 71. Levy R, Har-El G, Segal K, Sidi J. Acute myelogenous leukemia presenting as facial nerve palsy: A case report. Int J Pediatr Otorhinolaryngol 1986; 12: 49–53. 72. Li B, Liu S, Yang H, Wang W. Primary T-cell lymphoblastic lymphoma in the middle ear. Int J Ped Otorhinolaryngol 2016; 82: 19–22. 73. Sullivan FM, Swan IR, Donnan PT, etal. Early treatment with prednisolone or acyclovir in Bell’s palsy. N Engl J Med 2007; 357: 1598–607. 74. Inamura H, Aoyagi M, Tojima H, et al. Facial nerve palsy in children: clinical aspects of diagnosis and treatment. Acta Otolaryngol Suppl 1994; 511: 150–2. 75. Worsaae N, Christensen KC, Schiodt M, Reibel J. Melkersson-Rosenthal syndrome and cheilitis granulomatosa: A clinicopathological study of thirty-three patients with special reference to their oral lesions. Oral Surg Oral Med Oral Pathol 1982; 54: 404–13. 76. Graham MD, Kemink JL. Total facial nerve decompression in recurrent facial paralysis and the Melkerrsson–Rosenthal syndrome: A preliminary report. Am J Otol 1986; 1: 34–7. 77. Dutt SN, Mirza S, Irving RM, DonaldsonI. Total decompression of facial nerve for Melkersson–Rosenthal syndrome. JLaryngol Otol 2000; 114: 870–3. 78. Feng S1, Yin J, Li J, et al. Melkersson– Rosenthal syndrome: a retrospective study of 44patients. Acta Otolaryngol 2014; 25: 1–5. 79. Litofsky NS, Megerian CA. Facial canal decompression leads to recovery of combined facial nerve paresis and trigeminal sensory neuropathy: case report. Surg Neurol 1999; 51: 198–201. 80. Thornton MA, O’Sullivan TJ. Otological Wegener’s granulomatosis: a diagnostic dilemma. Clin Otolaryngol 2000; 25: 433–4. 81. Atula T, Honkanen V, Tarkkanen J, Jero J. Otitis media as a sign of Wegener’s granulomatosis in childhood. Acta Otolaryngol Suppl 2000; 543: 48–50. 82. Stegeman CA, Tervaert JW, de JongPE, Kallenberg CG. Trimethoprimsulfamethoxazole (co-trimoxazole) for the prevention of relapses of Wegener’s granulomatosis. Dutch Co-Trimoxazole Wegener Study Group. N Engl J Med 1996; 335: 16–20. 83. Aynaci FM, Sen Y. Peripheral facial paralysis as initial manifestation of hypertension in a child. Turk J Pediatr 2002; 44: 73–5. 84. Harms MM, Rotteveel JJ, Kar NC, Gabreels FJ. Recurrent alternating facial paralysis and malignant hypertension. Neuropediatrics 2000; 31: 318–20. 85. Jörg RL, Milani GP, Simonetti GD, et al. Peripheral facial nerve palsy in severe systemic hypertension: a systematic review. Am J Hypertens 2013; 26: 351–6. 86. Ishii LE. Facial nerve rehabilitation. Facial Plast Surg Clin North Am 2016; 24: 573–5.
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22 CHAPTER
EPISTAXIS Mary-Louise Montague and Nicola E. Starritt
Introduction.................................................................................. 241 Epidemiology................................................................................ 241 Anatomy....................................................................................... 241 Pathogenesis................................................................................ 241 Aetiology...................................................................................... 242
Assessment.................................................................................. 243 Investigations...............................................................................244 Management................................................................................244 References................................................................................... 248
SEARCH STRATEGY AND EVIDENCE BASE A literature search was conducted for systematic reviews and randomized controlled trials and guidelines with the focus on management of childhood epistaxis. The core search terms used for Medline, Embase, and the Cochrane Database of Systematic Reviews were epistaxis and nosebleeds and were limited to children 0–18 years. The guidelines databases on www.evidence.nhs.uk, NICE Clinical Knowledge Summaries and BestBETS (Best Evidence Topics) were also searched.
INTRODUCTION Epistaxis, from the Greek epistazō, ‘to bleed at the nose’, is a common problem in children although it is rarely severe and seldom requires hospital admission. Most episodes resolve spontaneously and can be managed at home or in the community setting. Recurrent frequent nosebleeds can, however, cause distress and anxiety to children and their parents and can be disruptive to sleep, school and sporting activities. It is this group of children who are most frequently referred for assessment and treatment to an otolaryngologist along with children presenting with severe acute bleeding and those children in whom an unusual aetiology is suspected.
EPIDEMIOLOGY There is a bimodal distribution in the incidence of epistaxis, with peaks occurring in children under 10 years and adults over the age of 50 years. In childhood, as in adulthood, it is more common in males than females. It peaks between the ages of 3 and 8 years, and becomes much less common after puberty. Up to 60% of children will have had at least one nosebleed by the age of 10 years.1 A cross-sectional study of 1218 children aged 11–14 years reported that 9% had frequent episodes of epistaxis. 2 The incidence of recurrent childhood epistaxis
is highest in the winter months in northern climates. This mirrors the seasonal increase in viral upper respiratory tract infections and low relative indoor humidity associated with central heating use. 3 The presentation of epistaxis under the age of 2years is rare and should prompt consideration of either an underlying coagulation disorder or non-accidental injury.4,5
ANATOMY In children anterior bleeds are by far the most common type, accounting for more than 90% of epistaxis.6 They originate from Little’s area on the anterior nasal septum either from Kiesselbach’s plexus, a richly vascular arterial anastomosis just under the thin overlying nasal mucosa, or from retrocolumellar veins. Kiesselbach’s plexus is formed by the anastomoses of the septal branches of five arteries: anterior and posterior ethmoidal arteries, sphenopalatine artery, greater palatine artery and the superior labial artery. Little’s area therefore receives arterial supply from both the external and the internal carotid arteries.
PATHOGENESIS The precursor to epistaxis in children is most commonly local dryness and crusting over Little’s area (Figure22.1). 241
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242 Section 1: Paediatrics TABLE 22.1 Local and systemic aetiologies of epistaxis in children
LOCAL
Aetiology
Examples
Trauma
Nose picking or rubbing Blunt trauma or facial fractures Foreign body
Inflammation
Upper respiratory infection Allergic rhinitis Vasculitis
Anatomical
Septal deviation Septal perforation
Neoplasms
Benign • Polyps • Pyogenic granuloma • Haemangioma • Juvenile nasopharyngeal angiofibroma • Inverted papilloma Malignant • Rhabdomyosarcoma • Nasopharyngeal carcinoma • Lymphoma
Intranasal drugs
Steroids Decongestants Cocaine
Bleeding disorders
Coagulopathies • von Willebrand Disease • Haemophilia Platelet disorders • Idiopathic thrombocytopenic purpura • Glanzmann thrombasthenia • Bernard–Soulier syndrome Myeloproliferative disease • Leukaemia • Thrombocytopenia
Vascular abnormalities
Hereditary haemorrhagic telangiectasia (Rendu–Osler– Weber syndrome)
Figure 22.1 Endoscopic view of nasal septal crusting seen in children with recurrent epistaxis.
SYSTEMIC
Liver disease
Figure 22.2 Endoscopic view of prominent septal vessels seen in children with recurrent epistaxis.
Most cases were historically labelled as idiopathic but recent evidence has led to the hypothesis that colonization of the nasal cavity by Staphylococcus aureus may contribute by causing low-grade inflammation.7 Release of inflammatory mediators in response to more prolonged inflammation is thought to lead to neovascularization of the nasal septal mucosa. This may give rise to the frequently seen vessels on Little’s area (Figure22.2) which have been shown histologically to be thin-walled arterioles and capillaries with a surrounding inflammatory infiltrate.8
AETIOLOGY Recurrent childhood epistaxis is usually attributed to digital trauma. Other common causes include allergic, viral and bacterial rhinitis and foreign bodies. Table22.1 illustrates the range of local and systemic aetiologies one needs to consider in children.
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Antiplatelet drugs
Aspirin Non-steroidal anti-inflammatory drugs
Other drugs
Anticoagulants Valproic acid
Parasitic infection
Dengue haemorrhagic fever
Tumours, such as juvenile nasopharyngeal angiofibroma (JNA) and rhabdomyosarcoma, are rare causes of epistaxis that can be both dramatic and difficult to control. JNA is a benign vascular hormonally sensitive tumour which arises in the lateral nasopharynx and occurs only in adolescent males. Although benign, it can cause severe problems through local invasion of adjacent structures.9 Rhabdomyosarcoma is a rare malignant tumour occurring in young children presenting with severe intermittent epistaxis. It causes nasal obstruction with or without mucopurulent or bloody nasal discharge, often with signs of Eustachian tube dysfunction such as unilateral middle ear effusion. It can also present with pain and cranial
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(a)
(b)
Figure 22.3 (a)Axial MRI and (b) coronal MRI showing nasopharyngeal rhabdomyosarcoma displacing the parapharyngeal fat space laterally. Opacification of right middle ear and mastoid air cells is also seen.
neuropathies (Figure22.3). Nasopharyngeal carcinoma is fortunately rare in children. Approximately 50% present with epistaxis. It is often accompanied by a neck mass or neck pain.10 Primary and acquired coagulopathies are less common causes of nosebleeds in children but may present with recurrent or extremely refractory epistaxis. Von Willebrand disease (vWD) is the most commonly identified inherited coagulopathy with a prevalence of 5–10% in children with recurrent epistaxis when full coagulation studies including tests for vWD are performed.2, 11 The haemophilias (factors VII, VIII, IX or XI deficiency) aremuch less common. Acquired coagulopathies are a rare cause of epistaxis in children in comparison to adults. They include various liver diseases with consequent depletion of clotting factors. An acquired form of vWD has also been described in children receiving valproic acid for epilepsy.12 Hereditary haemorrhagic telangiectasia (HHT) (Rendu–Osler–Weber syndrome), an autosomal dominant disorder of blood vessel walls characterized by extensive mucocutaneous telangiectasias, also causes recurrent epistaxis in more than 90% of those affected. Nosebleeds present at a mean age of 12years and progressively worsen with age.13 Gastrointestinal bleeding and pulmonary arteriovenous malformations can occasionally occur in childhood. Nosebleeds often occur in children with thrombocytopenia either secondary to chemotherapy or a haematological disorder. It is rare, however, for haematological disorders to present with epistaxis as the primary symptom in children. Although rare, Glanzmann thrombasthenia, in which the platelet glycoprotein IIb/IIIa complex is either deficient or dysfunctional, is the commonest of the genetic platelet disorders.
ASSESSMENT The assessment of children with recurrent epistaxis should begin with a careful history and physical examination.
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History The history should include the frequency, duration and laterality of the bleeding. Most epistaxis is bilateral, although one nostril may be more severely affected. One should also enquire about associated nasal and systemic symptoms and any precipitating factors including trauma. Past medical, family and drug histories and review of systems should also be covered.
UNILATERAL NASAL SYMPTOMS When epistaxis is unilateral and accompanied by foulsmelling nasal discharge in a young child, a foreign body must be presumed present until proven otherwise. Having excluded a nasal foreign body, unilateral epistaxis should raise suspicion of a more serious local cause in the nose such as angiofibroma in a teenage boy or rhabdomyosarcoma in a younger child. Other ‘red flag’ symptoms include unilateral nasal obstruction, pain and facial swelling.
ALLERGIC RHINITIS Nasal itch and blockage along with watery rhinorrhoea and sneezing are suggestive of allergic rhinitis.
SYSTEMIC SYMPTOMS Bleeding from other anatomical sites or a history of easy bruising may indicate an underlying bleeding disorder. Symptoms of fever, arthralgia and weight loss may point to a diagnosis of vasculitis such as Granulomatosis with polyangiitis (Wegener’s Granulomatosis), which may manifest in adolescence with epistaxis.
FAMILY HISTORY A family history of bleeding disorders (e.g. HHT, haemophilia) should be enquired about. Often no definitive condition is identified but a positive family history of prolonged bleeding after surgery or dental extraction may warrant onward referral for haematological investigations.
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244 Section 1: Paediatrics
DRUG HISTORY Nosebleeds may be more frequent or more difficult to control in children taking certain medications, particularly anti-inflammatory agents (aspirin, ibuprofen) and anticoagulants (e.g.children with complex congenital heart disease or thromboembolic disease). Incorrect application of topical steroid sprays for rhinitis resulting in nasal septal trauma may be complicated by epistaxis.
ALLERGY HISTORY A history of nut or soya allergy becomes pertinent if prescription of a topical antiseptic cream containing arachis (peanut) oil is being considered. There is a possible relationship between allergy to peanut and allergy to soya and it should not be used in children with soya allergy either.14
Clinical examination Clinical examination focuses on the nose but complete ENT, head and neck and general examination of the child are also required. Younger children feel more secure sitting on a parent’s knee. Initial assessment can be made with the child looking upwards by gently elevating the tip of the nose with a thumb allowing inspection of the nasal vestibule, anterior nasal septum, and anterior portion of the inferior turbinate illuminated by a headlight. Anterior rhinoscopy can also be performed with a well-illuminated otoscope with a large speculum. The most common findings are crusting (two-thirds of children) and visible vessels (40–50% of children) on the anterior septum.15, 16 Hallmarks of allergic rhinitis may be present including a transverse nasal skin crease (‘the allergic salute’), and periorbital markers such as ‘allergic shiners’ and ‘Dennie–Morgan lines’. Pale or bluish nasal mucosa and turbinates are also typical in allergic rhinitis. A nasal foreign body should be excluded. Distortion of nasal anatomy, an intranasal mass, polyps or cervical lymphadenopathy should raise the suspicion of tumour and also prompt a screen for cranial nerve palsies. Rigid nasendoscopy is not tolerated well by children and, if a more posterior view of the nasal cavity and nasopharynx is required, a fine 2.2 mm flexible nasendoscope can be used after application of topical anaesthetic and vasoconstricting agent. Given the low yield of nasal endoscopy findings in younger children in particular, routine use is probably not warranted.17 As the diagnosis of a nasal mass is most likely in adolescent males, nasal endoscopy should continue to be routine in their assessment. Stigmata of systemic causes of bleeding, such as bruising, petechiae, cutaneous or mucocutaneous telangiectasia, should be looked for. Pallor may indicate significant blood loss or anaemia. The jaundiced child may have liver disease with a secondary coagulopathy. In some circumstances, if an adequate view cannot be obtained or the child is not sufficiently cooperative, examination under general anaesthesia may be required.
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INVESTIGATIONS No consensus exists on the standard laboratory workup for paediatric epistaxis with clinician judgement largely guiding outpatient investigations. The routine use of blood testing is not advantageous from a healthcare cost perspective as there is such a low yield of significant findings.17 Observational studies suggest that laboratory tests should be considered for children with prolonged (i.e.more than 30minutes) or severe bleeding despite appropriate application of pressure, in children under the age of 2years, and when the history and physical findings are suggestive of a bleeding disorder, malignancy, liver or other systemic disease. Laboratory tests may include a full blood count (FBC) with differential white cell count and platelet count, and a coagulation screen comprising prothrombin time (PT) and activated partial thromboplastin time (APTT). The international normalized ratio (INR) should be checked if the child is receiving anticoagulants. Children found to have abnormalities should be referred for investigation to a paediatric haematologist. Further laboratory tests may include factor assays, von Willebrand factor and platelet function assays. When tumour is suspected on the basis of history and examination including nasendoscopy, the diagnosis is usually confirmed by contrast-enhanced MRI. CT is often complementary. In the case of JNA a vascularenhancing nasopharyngeal mass is seen (Figure22.4a,b). Intranasal biopsy of JNA, which is a highly vascular tumour, should be avoided because of the risk of lifethreatening bleeding. Selective digital subtraction angiography (DSA) elegantly demonstrates the vascular supply and allows pre-operative embolization of feeder vessels (Figure 22.5a,b). Post-embolization surgical resection is the treatment of choice. When tumour is suspected, multidisciplinary review and discussion are essential between paediatric otolaryngologist, oncologist and radiologist to ensure that appropriate laboratory tests, imaging and histopathological specimens are obtained.
MANAGEMENT Epistaxis in children can present either as an acute spontaneous episode or as chronic recurrent intermittent episodes of bleeding. The management of both scenarios is outlined.
Management of acuteepisodes of bleeding It is unusual for acute epistaxis in children to need urgent transfer to hospital for resuscitation, most responding to direct pressure over the soft cartilaginous part of the nose (alae nasi) for 10–15 minutes (the Hippocratic method) (Figure 22.6a,b). Urgent transfer to hospital should be arranged if the bleeding is not responsive to pressure.
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22
(a)
Figure 22.4 (a) Coronal CT. Juvenile nasopharyngeal angiofibroma (asterisk) extending into the choana with obstruction of the left nasopharynx, bowing of the vomer to the right (arrow) and bowing of the medial wall of the left maxillery antrum (arrowhead). (b) Axial CT. Bone windows showing erosion of the vomer (thick arrow), destruction of the pterygoid (arrowhead) and extension into the pterygopalatine fossa (thin arrow). Images courtesy of Dr S Goodwin, Consultant Paediatric Radiologist, Royal Hospital for Children, Glasgow.
(b)
(a)
(b)
Figure 22.5 (a) Pre- and (b) post- embolization DSA demonstrating hypervascular tumour blush which has reduced significantly post-embolization of the distal left internal maxillary artery. Images courtesy of DR S Goodwin, Consultant Paediatric Radiologist, Royal Hospital for Children, Glasgow.
Initial assessment in the emergency department focuses on the child’s airway, breathing and circulation. In a haemodynamically unstable child an effort should be made to assess blood loss, secure intravenous access and send venous blood for FBC, coagulation screen and blood group and save followed by fluid resuscitation. If the child is haemodynamically stable at presentation, laboratory blood tests do not need to be requested routinely. A careful history is taken from the parent or carer. The nasal cavity is examined, gently looking for a bleeding point anteriorly. If the bleeding stops with first aid measures, a topical antiseptic cream (e.g. containing chlorhexidine
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hydrochloride 0.1% and neomycin sulfate 0.5%) can be applied and continued twice daily for up to 2 weeks to minimize crusting. If there is a history of peanut, neomycin or soya allergy, mupiricin ointment can be prescribed twice daily for 1week as an alternative. Most acute nosebleeds in children respond to simple pressure and do not require referral to otolaryngology services. Examination of the child who continues to bleed despite nasal pressure can be difficult. The oropharynx should be inspected for signs of posterior bleeding. Subsequent measures to control anterior epistaxis include nose blowing followed by gently placing cotton pledgets soaked in vasoconstrictor and local anaesthetic such as Co-phenylcaine
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Figure 22.6 Demonstration of Hippocratic method to arrest bleeding with child seated, head tilted slightly forward and mouth open to prevent airway obstruction and swallowing of blood.
(lignocaine hydrochloride 5% with phenylephrine hydrochloride 0.5%) or Oxymetazoline in the anterior nasal cavity. This is followed by further digital pressure for 5 minutes. In small children the lowest concentration of phenylephrine should be used (e.g.phenylephrine 0.25% diluted with an equal volume of sterile saline to 0.125%). If bleeding continues the next step is usually chemical cautery with silver nitrate if a bleeding point can be seen anteriorly and the child can tolerate the procedure. Using a stick, 75% silver nitrate is applied to the bleeding point for up to 5 seconds (Figure22.7) until a grey-white eschar develops (Figure22.8a,b). Excess chemical should be gently mopped away with a cotton bud, topical antiseptic applied to the site and a barrier lubricant such as soft white paraffin applied to the external skin to protect it. The topical antiseptic preparation is continued twice daily for up to 2weeks. Local chemical cautery is sufficient to control most epistaxis in children. The placement of an anterior nasal pack under direct vision may be required if the bleeding continues despite local cautery, in the presence of diffuse mucosal bleeding or in a child with a coagulopathy pending treatment directed at rectifying the bleeding problem. Absorbable packs such as gelatin sponge, alginate or oxidized cellulose are favoured in children over non-absorbable packs, having the obvious advantage of not requiring subsequent
removal, which in itself may cause further trauma to the anterior nasal septum (Figure22.9). If an anterior pack is placed, the child should be admitted to the ENT or children’s ward for observation. Examination under anaesthesia may be required if bleeding continues, or in a young child unable to tolerate
(a)
(b)
Figure 22.7 Stick with 75% silver nitrate used for chemical cautery.
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Figure 22.8 (a)Bleeding vessel on anterior septum before silver nitrate cautery and (b)the grey/white eschar that appears post-cautery.
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Figure 22.9 Gelatin sponge pack (left) and Alginate packing material (right).
chemical cautery or placement of an anterior pack under local anaesthesia. Chemical cautery or electrocautery can be undertaken with or without placement of an anterior pack. Posterior bleeding in children is much less common but often more severe and should be suspected if the bleeding is profuse and bilateral, there has been no response to pressure and a bleeding site cannot be identified anteriorly. Rarely, placement of a posterior nasal pack or balloon inflated under general anaesthesia is warranted. Thorough examination of the nasal cavity and nasopharynx can be performed simultaneously. The child should be cared for post-operatively on the critical care floor until the post-nasal pack or balloon is removed, again usually under general anaesthesia. The child with persistent anterior or posterior epistaxis refractory to these measures in the absence of a correctable bleeding disorder may require consideration of either arterial ligation or radiological selective arterial embolization. These are rarely necessary in children.
Management of recurrent episodes of bleeding In children referred to the otolaryngologist for outpatient assessment and treatment of recurrent epistaxis a detailed history and examination should seek to determine if there is an underlying cause. It should also be established what treatment, if any, has already been provided in the primary care setting. If the child is not at high risk of having a serious underlying cause for their recurrent epistaxis, treatment options should be discussed and include: • • • • • •
mucosal hydration with saline drops or spray emollients, e.g.petroleum jelly topical antiseptic cream chemical cautery chemical cautery combined with antiseptic cream bipolar electrocautery.
The optimal management of recurrent epistaxis in children remains controversial as the available studies are limited
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by small numbers and short-term follow-up.18 Petroleum jelly application to the nose is often recommended but it has no benefit over simple observation.16 Topical antiseptic cream was found to significantly increase the resolution of recurrent epistaxis at 8 weeks when compared to no treatment.15 Long-term benefit of topical antiseptic, however, has not been established.19 It is not known if chemical cautery is better than no treatment but, if a child has been referred to a paediatric otolaryngology clinic and has already had treatment with an antiseptic cream, most would consider it reasonable to offer chemical cautery if a prominent vessel is visible as it is of low morbidity. Antiseptic cream would appear to be as effective as silver nitrate cautery in reducing the number of nosebleeds in children with recurrent epistaxis. 20, 21 It is therefore not unreasonable for antiseptic cream to be considered the first-line treatment for recurrent epistaxis in children in primary care. Treatment with chemical cautery and antiseptic cream may be more effective than antiseptic cream alone at 4 weeks after completing treatment in children with visible anterior septal vessels. 22 It is recommended to use 75% rather than 95% silver nitrate for chemical cautery in children as it appears to be more effective, has fewer side effects and is less painful. 23 Simultaneous bilateral cautery is not recommended owing to the possible increased risk of septal perforation. 24 Bipolar electrocautery may be superior to chemical cautery under general anaesthesia in children who will not tolerate outpatient chemical cautery. It has been shown to afford a longer epistaxis-free period and a lower incidence of recurrence within 2 years of treatment. After 2years however, the outcomes of the two treatments are no different. 25 Less commonly performed interventions in children include laser treatment, submucosal resection or limited septoplasty in the presence of septal deviation or a prominent septal spur and endoscopic diathermy but these are usually only applicable on an individual case basis and are not supported by a strong evidence base. The management of HHT in children requires special mention as it may require unique approaches to treatment. Chemical cautery should be avoided and, when packing is necessary, absorbable packing is preferred. Treatment with topical fibrin glue or matrix sealant (e.g. Floseal), the anti-fibrinolytic agent, tranexamic acid, KTP laser, cold ablation and the anti-neoplastic agent Bevacizumab (Avastin) have been employed in some centres with some success though there is very little in the published literature with respect to their use, safety and efficacy in children. Septal dermoplasty remains a viable surgical option but has the disadvantage of a donor split skin graft site and associated discomfort for the child.
22
Prevention of further bleeds After treatment for either acute or recurrent epistaxis, parents/caregivers should be educated in the correct first-aid management in the event of recurrence. Children’s fingernails should be kept trimmed and clean. Management of suspected or proven allergic rhinitis is
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essential to help prevent recurrence. Parents should be instructed how to apply their child’s nasal steroid spray correctly, with advice to hold the bottle in the opposite
hand (right hand for left nostril and vice versa) to ensure the spray is directed to the lateral nasal wall and away from the septum.
BEST CLINICAL PRACTICE ✓✓ In acute epistaxis the child’s airway, breathing and circulation should be assessed and, if compromised, urgent transfer arranged to the emergency department. ✓✓ Adolescent boys with unexplained recurrent epistaxis require urgent referral to otolaryngology as JNA is possible, although rare. ✓✓ In children younger than 2years of age consider referral to a paediatrician with child protection expertise as epistaxis is unusual in this age group.
✓✓ Laboratory investigations are not usually required unless an underlying cause for recurrent epistaxis is suspected. ✓✓ Chemical cautery with 75% silver nitrate in the hands of an appropriately trained clinician is a well-tolerated procedure with little morbidity and should be offered when there is a visible blood vessel. ✓✓ Antiseptic cream containing peanut oil must not be prescribed for children with known or suspected peanut allergy.
FUTURE RESEARCH ➤➤ It is unlikely that the role of silver nitrate cautery will ever be validated by randomized controlled trials as this treatment is operator-dependent. ➤➤ There is a lack of study data assessing the effect of recurrent epistaxis on the quality of life of the child and parent or the effect of intervention on quality of life indices. ➤➤ High-quality studies, with longer follow-up, are needed to ascertain which, if any, of the current treatments for
recurrent epistaxis in children are optimal in its long-term prevention. ➤➤ As most epistaxis in children is managed in the primary care setting, large population studies on the natural history of epistaxis and the effect of intervention will need to be primarycare centred.
KEY POINTS • Epistaxis in children is extremely common and usually innocuous. • The most common cause of epistaxis in the paediatric population is digital trauma. • Most episodes of acute epistaxis in children respond to simple compression and do not require hospital referral.
• Routine laboratory blood testing is not indicated for most children with self-limiting epistaxis.
• Spontaneous resolution of benign simple recurrent epistaxis in children is to be expected.
REFERENCES 1. 2.
3.
4.
5.
Petruson B. Epistaxis in childhood. Rhinology 1979; 17: 83–90. Rodeghiero F, Castaman G, Dini E. Epidemiological investigation of the prevalence of von Willebrand’s disease. Blood 1987; 69: 454–9. Nunez DA, McClymont LG, Evans RA. Epistaxis: a study of the relationship with weather. Clin Otolaryngol Allied Sci 1990; 15: 49–51. Elden V, Reinders M, Witmer C. Predictors of bleeding disorders in children with epistaxis: value of preoperative tests and clinical screening. Int J Pediatr Otorhinolaryngol 2012; 76: 767–71. McIntosh N, Mok JYQ, Margerison A. Epidemiology of oronasal haemorrhage in the first 2years of life: implications for child protection. Paediatrics 2007; 120: 1047–8.
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6.
7.
8.
9.
Manning S, Culbertson M Jr. Epistaxis. In: Bluestone C, Stool S, Kenna M (eds). Pediatric otolaryngology. 4th ed. Philadelphia, PA: Saunders; 2003, pp.925–31. Whymark AD, Crampsey DP, FraserL, et al. Childhood epistaxis and nasal colonization with Staphylococcus aureus. Otolaryngol Head Neck Surg 2008; 138(3): 307–10. Montague ML, Whymark A, HowatsonA, Kubba H. The pathology of visible blood vessels on the nasal septum in children with epistaxis. Int J Paediatr Otorhinolaryngol 2011; 75(8): 1032–4. Lopez F, Suarez V, Costales M, et al. Treatment of juvenile angiofibromas: 18-year experience of a single tertiary centre in Spain. Rhinology 2012; 50: 95–103.
10. Zubizarreta PA, D’Antonio G, RaslawskiE, et al. Nasopharyngeal carcinoma in childhood and adolescence: a single-institution experience with combined therapy. Cancer 2000; 89: 690–5. 11. Elden L, Reinders M, Witmer C. Predictors of bleeding disorders in children with epistaxis: Value of preoperative tests and clinical screening. Int J Pediatr Otorhinolaryngol 2012; 76: 767–71. 12. Serdaroglu G, Tütüncüoglu S, Kavakli K, Tekgül H. Coagulation abnormalities and acquired von Willebrand’s disease type 1 in children receiving valproic acid. J Child Neurol 2002; 17(1): 41–3. 13. Faughnan ME, Palda VA, Garcia-Tsao G, et al. HHT Foundation International – Guidelines Working Group. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. JMed Genet 2011; 48: 73–87.
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22: EPISTAXIS 249 14. Electronic Medicines Compendium. Datapharm Communications Ltd. Summary of product characteristics for Naseptin cream. ABPI Medicines Compendium. 2014. Available from: www.medicines.org.uk 15. Kubba H, MacAndie C, Botma M et al. A prospective, single-blind, randomised controlled trial of antiseptic cream for recurrent epistaxis in childhood. Clin Otolaryngol Allied Sci 2001; 26: 465–8. 16. Loughran S, Spinou E, Clement WA, et al. A prospective, single-blind, randomised controlled trial of petroleum jelly/Vaseline for recurrent paediatric epistaxis. Clin Otolaryngol Allied Sci 2004; 29: 266–9. 17. Patel N, Maddalozzo J, Billings KR. An update on management of pediatric epistaxis. Int J Paediatr Otorhinolaryngol 2014; 78: 1400–4.
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18. Qureishi A, Burton MJ. Interventions for recurrent idiopathic epistaxis (nosebleeds) in children. Cochrane Database Syst Rev 2012; (9): CD004461. 19. Robertson S, Kubba H. Long-term effectiveness of antiseptic cream for recurrent epistaxis in childhood: five-year follow up of a randomised, controlled trial. JLaryngol Otol 2008; 122: 1084–7. 20. Ruddy J, Proops DW, Pearman K, RuddyH. Management of epistaxis in children. Int J Paediatr Otorhinolaryngol 1991; 21: 139–42. 21. Ozmen A, Ozmen OA. Is local ointment or cauterization more effective in childhood recurrent epistaxis. Int J Paediatr Otorhinolaryngol 2012; 76: 783–6.
22. Calder N, Kang S, Fraser L, et al. Adouble-blind randomized controlled trial of management of recurrent nosebleeds in children. Otolaryngol Head Neck Surg 2009; 140; 670–4. 23. Glynn F, Amin M, Sheahan P, McShane D. Prospective double blind randomized clinical trial comparing 75% versus 95% silver nitrate cauterization in the management of idiopathic childhood epistaxis. Int J Pediatr Otorhinolaryngol 2011; 75: 81–4. 24. McGarry G. Recurrent epistaxis in children. BMJ Clin Evid 2013; 2013: 0311. 25. Johnson N, Faria J, Behar P. A comparison of bipolar electrocautery and chemical cautery for control of pediatric recurrent anterior epistaxis. Otolaryngol Head Neck Surg 2015; 153: 851–6.
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23 CHAPTER
NEONATAL NASAL OBSTRUCTION Michelle Wyatt
Introduction.................................................................................. 251 Congenital disorders..................................................................... 251
Acquired pathologies....................................................................257 References...................................................................................259
SEARCH STRATEGY Data in this chapter may be updated by a Medline search using the keys nasal obstruction and neonatal and focusing on a variety of keywords appropriate to the individual topics. These include all the subheadings listed below (e.g.choanal atresia, piriform aperture stenosis). The Cochrane Database of Systematic Reviews and the National Electronic Library for Health for ENT were also consulted.
INTRODUCTION The aetiology of neonatal nasal obstruction is diverse. Neonates are generally obligate nasal breathers for the first few months of life, and therefore they can present as acute respiratory emergencies, classically with cyclical cyanosis, relieved by crying. The extent of their problems will alter related to the neonate’s ability to breathe orally which is dependent on their maturity and neurological development. Thus, an oral airway is often sufficient to relieve the respiratory distress until definitive treatment can be undertaken. Neonates with nasal obstruction may also present with stertor and feeding problems. Failure to thrive particularly raises level of concern. Examination is essential.
BOX 23.1 Congenital causes of nasal obstruction in neonates Anatomical/ Congenital nasal skeletal anomalies cysts
Nasal masses
BOX 23.2 Acquired causes of nasal obstruction in neonates Structural
Inflammatory
Osseocartilaginous nasal deformity
Neonatal rhinitis
Flexible nasendoscopy is particularly useful and imaging via computed tomography (CT) and magnetic resonance imaging (MRI) is of great value in delineating both nasal and post-nasal lesions.1,2 Boxes 23.1 and 23.2 list the variety of causes of neonatal nasal obstruction. This chapter aims to review those conditions not covered elsewhere in this book.
CONGENITAL DISORDERS
Choanal atresia
Dermoid cysts
Glial heterotopia
Skeletal anomalies
Pyriform aperture stenosis
Nasolacrimal duct cysts
Meningo- or encephalocoele
CHOANAL ATRESIA
Midnasal stenosis
Thornwald’s cyst
Haemangioma
Nasal agenesis
Nasoalveolar cysts
Teratoma
Craniosynostosis syndromes
Dentigerous cysts
Hamartoma
‘Cleft palate’ nose
Mucous cysts
Chordoma
This is a rare condition (incidence 1 in 7000 live births) in which there is complete obstruction of the posterior choanae on one or both sides (Figure 23.1). The blockage is thought to be either bony or membranous in origin, but in reality a mixed picture is usually seen (70% of cases), with the remainder being purely bony. It is believed to be secondary to persistence of the nasobuccal membrane. 251
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Figure 23.1 Bilateral choanal atresia as viewed from the nasopharynx with a 120-degree endoscope.
Figure 23.2 CT scan (axial view) to illustrate the expansion of the posterior vomer and medial maxillary walls of the nasopharynx in choanal atresia (arrows).
Bilateral choanal atresia in neonates presents as acute respiratory distress as neonates are obligate nasal breathers. Classically the neonate will have cyclical cyanosis relieved by crying, and placement of an appropriatesized oral airway resolves the distress. Unilateral choanal atresia may present later in life, and can be picked up in neonates when there is an inability to pass a nasogastric tube through one nasal passageway. Neonates with choanal atresia will have difficulty with feeding. The uvula and epiglottis usually form a respiratory channel from the nose to the larynx with two lateral pathways from the mouth to the oesophagus to allow for the safe passage of food. In neonates with bilateral choanal atresia this respiratory channel is lost and therefore cyanosis can develop during feeds.1 McGovern nipples have been shown to be of benefit for children who develop feeding difficulties. Misting upon placement of a metal spatula below the neonate’s external nasal aperture excludes a diagnosis of choanal atresia, and this test can easily be performed in the clinic setting. If suspected, the diagnosis should be confirmed with flexible nasendoscopy, and CT scanning should then be performed to determine the extent and nature of the choanal atresia (with suction clearance of the nose and application of 0.5% ephedrine drops 30minutes prior to scanning) (Figure23.2). In neonates, often a simple oral airway is well tolerated, in which case endotracheal intubation can be avoided. Choanal atresia can occur in isolation, but it can also be one feature of a number of associated congenital anomalies in the CHARGE (coloboma, heart defects, atresia choanae, retardation of growth, genital anomalies, ear abnormalities) syndrome, due to mutations in the CHD7 gene on chromosome 8. These abnormalities must be excluded in a child with choanal atresia and therefore the minimum investigations in addition to the nasal CT scan are cardiac echo, renal ultrasound scan, and an ophthalmology and audiology review.
The literature describes numerous techniques for the repair of choanal atresia, but there is little in the way of direct comparisons and outcomes are difficult to define objectively. Most studies report on the surgeons’ assessment of the size of the nasal airway, and whether the family feel that the symptoms have resolved. The number of surgeries required and time taken to reach a satisfactory outcome are used to make comparisons. A recent Cochrane review concludes that there is no definitive evidence to demonstrate the potential advantages or disadvantages of any surgical technique for patients with choanal atresia. 3 The two most common techniques for choanal atresia repair are the transnasal and transpalatal approaches, but the sublabial, transantral and transseptal approaches have also been described.4 Transpalatal and transnasal surgery have been shown to have similar outcomes.5 The transpalatal technique is not as common now, but it can be useful in those neonates with significant craniofacial anomalies where the dimensions of the nose and postnasal space are limited. There are two methods described for the endoscopic transnasal approach. One involves using the zero degree endoscope transnasally, with serial dilatations using urethral sounds or using powered instruments such as microdrills. In cases where the nasal cavity is too small to accommodate both instruments a posterior septal window is created and expanded, thus allowing the endoscope through one nostril and the powered instrument through the other nostril, creating a ‘neo-unichoana’.6,7 The second transnasal approach involves a 120-degree endoscope being placed in the mouth and positioned in the nasopharynx behind the soft palate to give a view of the postnasal space. Instruments and the drill can then be introduced through the nose. This technique is described in three papers from Great Ormond Street Hospital in London and represents the largest reported experience at 161patients using the endoscopic transnasal approach.8–10
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Figure 23.3 Bilateral nasal stents with an endotracheal tube bridging piece.
There are reports in the literature of high success rates using the endoscopic endonasal approach with balloon dilatation for choanal atresia, although the numbers involved in these series are still quite small.11 The role of nasal stenting post choanal atresia repair is also debated. If used, bilateral nasal stents can be fashioned from two ivory Portex™ endotracheal tubes cut to length with the bevelled end of each sitting in the nasopharynx orientated towards the septum. The philtrum is protected by either a small length of size 12 suction catheter cut to act as a bridging piece or a further small piece of endotracheal tube (Figure23.3). The stents are secured by a circumseptal ‘0’ prolene suture and left insitu for up to 6weeks. An alternative is to use a single tube as a stent, with a window cut in the middle to allow access for the securing suture. This avoids the need for a bridging piece (Figure23.4). There is debate as to the need for stenting, and a systematic review with metaanalysis has shown that the success rates for bilateral choanal atresia repair are similar with and without nasal stents, and that the use of stents may be associated with more complications.12 There is evidence that regular suctioning to clear secretions and daily washing with sodium chloride solution
Figure 23.4 Bilateral nasal stents without a bridging piece.
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results in successful outcomes.13 Authors who do not support using stents stress the need for resection of the posterior aspect of the vomer and early (1week post repair) repeat examination for removal of granulations and dilatation as required.13 Given the limitations in the definition of outcome as described previously, success rates have been shown to be similar over the past 20 years with the three Great Ormond Street papers showing rates of 68–80% for bilateral and 82–93% for unilateral choanal atresia. A group of 78children from the Philadelphia Children’s Hospital were followed up for 35months on average with similar results.14 Mitomycin C is thought to act to reduce granulation tissue and fibrosis by inhibiting fibroblasts and angiogenesis leading to its use during stent removal. However, several papers have found no benefit in terms of outcomes whether mitomycin C is used or not.12, 15 Carter et al. suggest, however, that mitomycin does have beneficial effects.16 The KTP laser has also been shown to be helpful in the treatment of granulation tissue which develops post-operatively. 5
23
PIRIFORM APERTURE STENOSIS This abnormality, first described in 1988, is a very rare condition leading to nasal obstruction in the neonate which arises due to bony overgrowth of the nasal process of the maxilla (Figure23.5).17 The piriform aperture is the narrowest part of the nasal airway and so even minimal reduction in diameter here can cause significant problems. Symptoms similar to bilateral choanal atresia occur and epiphora is also often seen secondary to bony involvement of the nasolacrimal ducts. Diagnosis is suggested by the inability to pass a narrow gauge nasogastric tube or 2.2 mm endoscope through the anterior nasal vestibule due to the bony obstruction. CT scan confirms the diagnosis with an aperture width of less than 11 mm measured on an axial CT at the level of the inferior meatus (in a term neonate). CT can also demonstrate a single central incisor, which exists in some affected individuals. This single central incisor is associated with an absent upper frenulum and arch-shaped lower lip. In this subgroup with a ‘megaincisor’ there is a suggested association with holoprosencepaly, a rare condition in which the developing forebrain fails to divide appropriately to form the cerebral hemispheres, diencephalon, and optic and olfactory bulbs. These patients should undergo further evaluation for central nervous system defects with an MRI and particularlythe hypothalamic–pituitary–thyroid axis. There are variable reports on the incidence rates of this condition with piriform aperture stenosis, but a figure of around 50% is generally accepted.18 Conservative treatment with nasal steroid drops or decongestants (for up to 2weeks) and saline irrigation is generally recommended as first-line treatment.19 If there is severe obstruction, respiratory distress or failure to thrive, surgical treatment is warranted. It has also been found that an aperture of less than 5 mm on CT is almost always associated with the need for surgical intervention. 20
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(a)
(b)
Figure 23.5 CT scan (axial view) of bilateral piriform aperture stenosis. Note the single central incisor.
Surgery involves either a transnasal approach with an alar-releasing incision or a sublabial approach with a gingival–buccal sulcus incision and elevation of the soft tissue and periosteum to expose the piriform aperture. The abnormal bone is drilled away using a diamond burr and the mucoperiosteal flap replaced. Post-operatively nasal stents can be used for up to 4weeks, although more recent studies suggest that stenting is not necessary.21 Complications include adhesions, septal perforations and septal ulceration, but the use of suctioning, nasal irrigation and treating gastro-oesophageal reflux minimizes this.22
MIDNASAL STENOSIS Midnasal stenosis is a rare condition secondary to overgrowth of the nasal bones halfway along the nasal cavity. It usually occurs in association with syndromes characterized by midfacial hypoplasia, such as Apert syndrome, but cases in isolation are also reported. 23 Neonates will present in a similar fashion to those with piriform aperture stenosis or choanal atresia with apnoea, cyanosis and failure to thrive. Diagnosis can be confirmed with nasal endoscopy or CT scanning which will demonstrate isolated bony narrowing of the midpart of the nasal cavity or narrowing with stenosis of the rest of the nasal cavity (Figure23.6). Treatment is usually conservative, allowing the child’s midface to grow, such that by the age of 6months the obstruction is relieved. For those children struggling with significant respiratory problems or failure to thrive, dilatations or stent placement can be considered.1
NASAL AGENESIS Complete arhinia is very rare but can occur in isolation or as part of a syndrome. It originates at the fifth week in utero when the nasal placode fails to canalize to form the nasal passages. Presentation at birth with acute
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Figure 23.6 Midnasal stenosis associated with a patient with Apert syndrome.
respiratory distress occurs. Management is initially with an oral airway and tube feeding. A tracheostomy may be required. Definitive surgical treatment usually involves a two-staged procedure aimed at reconstructing the nasal cavity as well as the external nose, and is usually delayed until facial development is almost complete. 24
Congenital nasal cysts Congenital cysts, as listed in Table 23.1, can either obstruct the nose or cause discharge from an associated sinus tract.
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born with nasolacrimal duct blockage. 26 These lesions can cause epiphora and nasal obstruction, sometimes leading to respiratory distress and feeding difficulties, and may present with a bluish cystic mass at the medial canthus. They are more commonly unilateral but can be bilateral, 27 and their incidence is slightly higher in female infants. CT imaging confirms the diagnosis and shows a dilated nasolacrimal duct, an intranasal cyst and cystic dilatation of the lacrimal sac. Initial management is with nasal decongestants but, if surgical removal is required, endonasal marsupialization under endoscopic guidance is recommended.27 Endonasal ablation with the carbon dioxide laser has also been reported previously.26 Opthalmology input is helpful as intra-operative nasolacrimal probing and stenting may be necessary (seeChapter25, Lacrimal disorders in children).
23
THORNWALDT CYST
Figure 23.7 Midline nasal sinus associated with an underlying dermoid cyst.
DERMOID CYST Dermoid cysts (Figure23.7) arise from the ectoderm and mesoderm and usually contain all the structures of normal skin. They are the most common midline nasal mass, and account for between 1% and 3% of all dermoids. These cysts usually present as a slowly growing cystic midline mass over the nasal dorsum. An associated pit is often seen in any position from the nasal tip to the glabella, and hair may be present at its opening. Occasionally these dermoids can become infected and thus present as an abscess requiring drainage. Between 4% and 45% of dermoid cysts have an intracranial component, thus pre-operative imaging with CT (for bony anatomy) and MRI (to delineate any connection to the central nervous system) is essential. 25 Nasal dermoids are discussed in more detail in Chapter41, Cysts and sinuses of the head and neck.
NASOLACRIMAL DUCT CYST (DACRYOCYSTOCOELE) The nasolacrimal duct system should canalize in utero from a superior to inferior direction and is usually complete by the sixth foetal month through a process of reabsorption; however, not infrequently, at birth the lower end can remain closed. This barrier can be combined with a proximal valve-like obstruction at the junction of the common canaliculus and lacrimal sac, thus the tear fluid builds up resulting in a cyst. This is a common problem for neonates and it is reported that 5–30% of babies are
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The pharyngeal recess or bursa sits in the midline of the posterior wall of the nasopharynx. It ends next to the adenoids and is lined by the pharyngeal mucous membrane. Cystic transformation of this recess was first described by Thornwaldt in 1885 and so it bears his name. Inflammation of the lesion causes nasal obstruction, occipital pain, fullness in the ears and discharge. It rarely causes significant obstruction in neonates. Endoscopic examination confirms the diagnosis. Imaging by CT and MRI demonstrates any adhesion to the cervical vertebrae. Incision and excision of the cyst have been described while total clearance requires a palatal approach.28
NASOALVEOLAR CYSTS These are rare, non-odontogenic, soft-tissue lesions arising from the incisive canal during the development of the maxilla. They present lateral to the midline at the alar base and can cause asymmetrical alar flare. Excision is usually via a sub-labial approach, but the transnasal approach has been recently reported. 29
DENTIGEROUS CYSTS Dentigerous cysts present in the floor of the nose or maxillary sinus and have a dental origin. Endoscopic marsupialization or removal via the nose is usually satisfactory.
MUCOUS CYSTS Mucous cysts have been described anywhere in the nose but appear to be more common in the floor. They may be congenital but are more usually seen as a complication of rhinoplasty. Endoscopic and open approaches are used depending on the position of the lesion.30
Nasal masses ENCEPHALOCOELE, MENINGOCOELE, GLIOMA A nasal encephalomeningocoele represents a herniation of meninges with or without associated brain through bony defects of the calvarium. A meningocoele consists of either
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256 Section 1: Paediatrics
Figure 23.8 Broadened nasal dorsum in a child with a glioma.
meninges alone or with CSF and an encephalocoele contains nervous tissue. Their combined incidence is around 1 in 4000 live births and they have an equal male/female distribution. Encephalocoeles can be described as frontoethmoidal or basal.31 Frontoethmoidal are usually associated with craniofacial deformity as they arise either at or anterior to the foramen caecum. The basal types present intranasally through defects in the skull base causing nasal obstruction and widening of the nasal bridge. Nasal gliomas (Figure23.8) are benign midline masses containing glial cells and fibrous and vascular tissue. They are similar to encephalocoeles but have become separated from the intracranial structures. Around 15% do, however, remain attached to the brain via a fibrous stalk. There is usually no associated abnormality of the brain. Abetter term for these lesions is ‘glial heterotopia’: glioma implies a neoplasm and these lesions are actually choristomas (aggregations of structurally normal tissue in an abnormal location). Presentation is usually early on as a firm, non-compressible, reddish swelling. Differentiation between gliomas and encephalocoeles can be made in a number of ways. A probe will pass laterally but not medially to an intranasal encephalocoele while an intranasal glioma can arise from the lateral nasal wall. Furstenberg’s test (compression of the internal jugular vein) usually causes an encephalocoele to enlarge but a glioma does not. Imaging is mandatory to confirm the nature of the lesion. MRI is the most effective modality due to its better resolution of soft tissue, and because the anterior skull base contains unossified cartilage which can be mistaken for bony dehiscence on CT, but CT has a role in image guidance. On MRI, an encephaocoele is seen as a mass in continuity with the brain with an associated skull base defect, while a glioma is discontinuous to the brain parenchyma and the tissue is dysplastic and gliotic,
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therefore more hyperintense on T2 compared to normal brain parenchyma. Surgical excision is recommended for these masses, particularly if they are causing significant problems. As with dermoid cysts, masses in the lower part of the nose can be removed via the external rhinoplasty approach.32 More recently, the endoscopic approach is advocated, and this has been shown to have successful outcomes with image guidance. 33, 34 The glial tissue can be removed with a zero-degree or 120-degree endoscope. Encephalocoeles and meningocoeles that require surgery usually require a combined transnasal and neurosurgical approach. Ventriculoperitoneal shunting may be required pre-operatively. The intracranial portion can be excised via a bicoronal flap with a frontal craniotomy, but this can be associated with complications of epilepsy, anosmia, scarring and intracerebral haemorrhage. More recently, the endoscopic approach is advocated without the need for formal craniotomy.35 The defect left by endoscopic excision can be closed with temporalis fascia graft, mucosa or a composite graft from the inferior turbinate, with Gelfoam® and packing (if small), or if a larger defect is present fascia lata and bone from the septum may be required. This prevents the risk of CSF leak potentially leading to meningitis. The role of prophylactic antibiotics is controversial.
NASAL HAEMANGIOMA Vascular anomalies such as haemangiomas, arteriovenous malformations (AVMs) or vascular malformation (including lymphatic malformations) can present in the nose either externally or internally (Figure23.9). Internal haemangiomas often arise from the inferior turbinate. Classically, a haemangioma is either absent or flat at birth and then undergoes a period of rapid growth to present as a mass at around 6weeks of age. Growth then continues for the first 6months of life before gradual involution occurs, and the lesion generally disappears by around the age of 6 years. This natural history supports conservative management if possible. Ultrasound and MRI imaging are the recommended modes of imaging, particularly to exclude any intracranial connection, and treatment depends on the extent of involvement of the surrounding tissues. Treatment for haemangiomas has been transformed with the use of oral propranolol and involvement of the appropriate paediatric medical team familiar with its use is recommended. 36, 37 In cases where there is encroachment on the orbit with a potential risk to vision, surgical excision has been used to good effect. The use of chemotherapy (such as methotrexate or vincristine) is reported but should be undertaken with caution due to the risks of side effects, and it has now largely been superseded by propranolol (see Chapter42, Haemangiomas and vascular malformations). 38
TERATOMA A teratoma is a true neoplasm consisting of all three germ cell layers with cells varying in maturity. They occur in 1in 4000 live births with less than 10% occurring in the
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23
(a)
(b)
(c)
(d)
Figure 23.9 External nasal haemangioma in a 10-month-old girl.
head and neck. The cervical forms are the most common, followed by nasopharyngeal teratomas. They are associated with polyhydramnios, stillbirth and prematurity, and can result in significant airway compromise. They usually present as a firm mass. Maternal serum alpha fetoprotein levels and beta HCG levels may be raised. Imaging is with CT andMRI. Teratomas will appear as heterogeneous masses on MRI, with fatty and bony components, and they may have a stalk,giving them mobility in different positions. Management is surgical, either endoscopic or open, depending on the size of the lesion. 39
MISCELLANEOUS Hamartomas, chordomas and craniopharyngiomas are extremely rare causes of nasal obstruction in the neonate.
ACQUIRED PATHOLOGIES Osseocartilaginous septal deformity The septum develops as an outgrowth from the merged medial nasal processes and nasofrontal process. At week9, it fuses with the palate just posterior to the incisive foramen, and then fuses anteriorly and posteriorly.40 A number of babies are born with a septal deviation either in isolation or in association with an abnormality of the bony pyramid. It is felt that the problem is due either to intrauterine positioning or to birth trauma. Closed reduction of the septal deformity with topical anaesthetic in each nostril in the first few days of life has been described and is thought to be successful if the deviation is severe.41 However, most of the studies that advocate intervention have inadequate follow-up periods and there is little evidence for the adverse effects of conservative management.42 Formal surgical repair is generally recommended later in childhood to avoid damage to the main growth centre of the nose; it is interesting, however, that the external rhinoplasty approach has been used for other pathology in very young children and no detrimental effects on
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nasal growth have been reported (see Vol1, Chapter 103, Nasal septum and nasal valve).
Neonatal rhinitis Swelling of the nasal mucosa in newborn infants can cause significant airway problems, particularly when feeding, as neonates are obligate nasal breathers. Idiopathic neonatal rhinitis is characterized by mucoid rhinorrhoea with nasal mucosal oedema in the afebrile newborn. This results in stertor, poor feeding and respiratory distress.43 Structural abnormalities should be excluded. Treatment of neonatal rhinitis depends on the severity of symptoms. Nasal bulb suction with saline drops in the first instance is recommended. A short course of nasal steroid drops would be the next step. This should be closely monitored to avoid the potential side effects from systemic absorption. It is important to consider chlamydia infection acquired in the birth canal. This usually results in conjunctivitis but involvement of the nose is seen in around 25% of affected individuals. Presentation is with obstruction, rhinorrhoea and a markedly erythematous nasal mucosa on examination. Swabs are diagnostic and the appropriate antibiotics should be given. Rarely congenital syphilis (Treponema pallidum) can cause nasal symptoms in the neonate. Thin, clear secretions are seen between the second week and third month of life. This progresses to a mucopurulent discharge with significant obstruction and crusting of the nostrils. Antibiotic treatment is required both for symptomatic relief and to prevent chronic infection of the cartilage resulting in saddle deformity.
Fibrous dysplasia This is an uncommon cause of nasal obstruction in older children and young adults. It is a benign fibro-osseous dysplasia and can present either as a solitary lesion (monostotic) or less commonly in multiple sites (polyostotic), typically in the craniofacial bones. Presentation is usually as pain with progressive facial deformity between the ages of 10 and 30.44
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258 Section 1: Paediatrics
Nasal obstruction, with a mass on endoscopy or facial deformity due to growth of a lesion in the nose or sinus should raise suspicion. Imaging helps to confirm the diagnosis; normal healthy bone is replaced with a more radiolucent ‘ground-glass’ appearance. There can be endosteal scalloping of the inner cortex with a smooth non-reactive periosteal surface. Lesions have diffuse margins. Management is expectant but surgical excision may be needed with the aim of preserving function and limiting disability. The mid-facial degloving approach has been shown to achieve good results with minimal cosmetic defect. Medical treatment involves medication to increase bone density, for example biphosphonates. A subgroup of polyostotic patients (around 3%) have associated endocrine abnormalities such as h yperthyroidism, adrenal disorders, diabetes, hyperpituitarism and hypercalcaemia with cafe-au-lait spots. This is termed McCune– Albright syndrome after the two physicians who first described it in 1937.
The condition usually becomes dormant by adulthood but there is a 1% risk of malignant transformation, mostly in the polyostotic form.
Neoplasms of the nasal bones Juvenile ossifying fibroma (JOF) is a true neoplasm which is defined radiologically as a radiolucent, expansile, welldefined lesion with variable calcification. It can be unilocular or multilocular with cortical thinning and possible perforation. Pain is rare. There are two subtypes, trabecular and psammomatoid, which have different histopathological appearances. Surgical excision is recommended and this may need to radical as recurrence rates are high (30–50%) probably due to the propensity of this disease to perforate cortical bone. Malignant change has not been reported. Bony malignancies can rarely present as nasal obstruction or deformity; good-quality imaging will usually alert the clinician to the need for further investigations.
BEST CLINICAL PRACTICE ✓✓ Use of an oral airway in neonates with nasal obstruction can facilitate transfer for definitive treatment. ✓✓ Minimal additional investigations for a child with choanal atresia to look for CHARGE syndrome are echocardiography, renal ultrasound and ophthalmology/audiology review. ✓✓ Early surgical excision of dermoid cysts is recommended before infection or further expansion occurs. ✓✓ Nasal masses may not be as innocuous as they seem; always consider intracranial extension and imaging with CT (for bony anatomy) and MRI (to identify a CNS connection).
✓✓ Compression of the internal jugular vein (Furstenberg’stest) usually causes an encephalocoele but not a glioma to enlarge. ✓✓ The treatment of nasal haemangiomas has been revolutionized by propranolol. ✓✓ Idiopathic neonatal rhinitis is underdiagnosed and improves with intranasal steroids. ✓✓ The endoscopic approach is rapidly becoming the procedure of choice for removal of neonatal nasal masses.
FUTURE RESEARCH ➤➤ Multicentre studies including long-term follow-up of patients who undergo surgery for choanal atresia. ➤➤ Studies looking at the success rates of the endoscopic approach for nasal encephalocoeles and gliomas are needed.
➤➤ Long-term follow-up of neonates who have had closed reduction of their septal deviation is unknown. ➤➤ Better evidence for the management of neonatal rhinitis is needed.
KEY POINTS • Neonates are obligate nasal breathers; nasal obstruction can cause significant airway compromise. • Affected neonates may develop stertor, mouth-breathing, feeding problems, sleep disturbance and rhinorrhoea. • Immediate relief can be brought about by insertion of an oral airway.
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• Choanal atresia may occur in isolation but is often one of a number of associated anomalies.
• A congenital nasal mass can consist of ectopic intracranial tissue.
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REFERENCES 1.
2.
3.
4. 5.
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Adil E, Huntley C, Choudhary A, CarrM. Congenital nasal obstruction: clinical and radiologic review. Eur J Pediatr 2012; 171: 641–50. Vanzieleghem BD, Lemmerling MM, Vermeersch HF, et al. Imaging studies in the diagnostic workup of neonatal nasal obstruction. J Comput Assist Tomogr 2001; 25(4): 540–9. Cedin AC, Atallah AN, Andriolo RB, etal. Surgery for congenital choanal atresia. Cochrane Database Syst Rev 2012; 2: CD008993. Gallagher TQ, Hartnick CJ. Endoscopic choanal atresia repair. Adv Otorhinolaryngol 2012; 73: 127–31. Triglia JM, Nicollas R, Roman S, ParisJ. Choanal atresia: therapeutic management and results in a series of 58 children. Rev Laryngol Otol Rhinol (Bord) 2003; 124(3): 139–43. Kinis V, Ozbay M, Akdag M, et al. Patients with congenital choanal atresia treated by transnasal endoscopic surgery. J Craniofac Surg 2014; 25(3): 892–7. Kwong KM. Current updates on choanal atresia. Front Pediatr 2015; 9(3): 52. Morgan DW, Bailey CM. Current management of choanal atresia. Int J Pediatr Otorhinolaryngol 1990; 19(1): 1–13. Friedman NR, Mitchell RB, Bailey CM, et al. Management and outcome of choanal atresia correction. Int J Pediatr Otorhinolaryngol 2000; 52(1): 45–51. Kubba H, Bennett A, Bailey CM. An update on choanal atresia surgery at Great Ormond Street Hospital for children: preliminary results with mitomycin C and the KTP laser. Int J Pediatr Otorhinolaryngol 2004; 68(7): 939–45. Riepl R, Scheithauer M, HoffmannTK, Rotter N. Transnasal endoscopic treatment of bilateral choanal atresia in newborns using balloon dilatation: own results and review of literature. Int J Pediatr Otorhinolaryngol 2014; 78(3): 459–64. Strychowsky JE, Kawai K, Moritz E, et al. To stent or not to stent? A meta-analysis of endonasal congenital bilateral choanal atresia repair. Laryngoscope 2016; 126(1): 218–27. Teissier N, Kaguelidou F, CouloignerV, et al. Predictive factors for success after transnasal endoscopic treatment of choanal atresia. Arch Otolaryngol Head Neck Surg 2008; 134(1): 57–61. Samadi D, Shah U, Handler D. Choanal atresia: a twenty year review of medical comorbidities and surgical outcomes. Laryngoscope 2003; 113(2): 254–8. Newman JR, Harmon P, Shirley WP, et al. Operative management of choanal atresia: a 15-year experience. JAMA Otolaryngol Head Neck Surg 2013; 139(1): 71–5.
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16. Carter JM, Lawlor C, Guarisco JL. Theefficacy of mitomycin and stenting in choanal atresia repair: a 20 year experience. Int J Pediatr Otorhinolaryngol 2014; 78(2): 307–11. 17. Ey EH, Han RB, Juon WK. Bony inlet stenosis as a cause of nasal airway obstruction. Radiology 1988; 168: 477. 18. Visvanathan V, Wynne DM. Congenital nasal pyriform aperture stenosis: a report of 10 cases and literature review. Int J Pediatr Otorhinolaryngol 2012; 76(1): 28–30. 19. Van Den Abbeele T, Francois M, TrigliaJM, Narcy P. Congenital nasal pyriform aperture stenosis: diagnosis and management of 20 cases. Ann Otol Rhinol Laryngol 2001; 110: 70–5. 20. Wormald R, Hinton-Bayre A, BumbakP, Vijayasekaran S. Congenital nasal pyriform aperture stenosis 5.7 mm or less is associated with surgical intervention: a pooled case series. Int J Pediatr Otorhinolaryngol 2015; 79(11): 1802–5. 21. Merea VS, Lee AH, Peron DL, et al. CPAS: surgical approach with combined sublabial bone resection and inferior turbinate reduction without stents. Laryngoscope 2015; 125(6): 1460–4. 22. Devambez M, Delattre A, Fayoux P. Congenital nasal pyriform aperture stenosis: diagnosis and management. Cleft Palate CraniofacJ 2009; 46(3): 262–7. 23. Raghavan U, Faud F, Gibbin KP. Congenital midnasal stenosis in an infant. Int J Pediatr Otorhinolaryngol 2004; 68(6): 823–5. 24. Zhang MM, Hu YH, He W, Hu KK. Congenital arhinia: a rare case. Am J Case Rep 2014; 15: 115–18. 25. Denoyelle F, Ducroz V, Roger G, Garabedian EN. Nasal dermoid sinus cysts in children. Laryngoscope 1997; 107(6): 795–800. 26. Hepler KM, Woodson GE, Kearns DB. Respiratory distress in the neonate: Sequela of a congenital dacryocystocele. Arch Otolaryngol Head Neck Surg 1995; 121(12): 1423–5. 27. Lecavalier M, Nguyen LH. Bilateral dacryocystoceles as a rare cause of neonatal respiratory distress: report of 2 cases. Ear Nose ThroatJ 2014; 93(1): E26–E28. 28. El-Anwar MW, Amer HS, Elnashar I, et al. 5 years follow up after transnasal endoscopic surgery of Thornwaldt’s cyst with powered instrumentation. Auris Nasus Larynx 2015; 42(1): 29–33. 29. Sazgar AA, Sadeghi M, Yazdi AK, OjaniL. Transnasal endoscopic marsupialization of bilateral nasoalveolar cysts. Int J Oral Maxillofac Surg 2009; 38(11): 1210–11.
30. Olnes SQ, Schwartz RH, Bahadori RS. Consultation with the specialist: diagnosis and management of the newborn and young infant who have nasal obstruction. Pediatr Rev 2000; 21(12): 416–20. 31. Suwanwela C, Suwanwela N. A morphological classification of sincipital encephalomeningocoeles. JNeurosurg 1972; 36:201–11. 32. Koltai PJ, Hoehn J, Bailey CM. The external rhinoplasty approach for rhinologic surgery in children. Arch Otol Head Neck Surg 1992; 118: 401–5. 33. Bonne NX, Zago S, Hosana G, et al. Endonasal endoscopic approach for removal of intranasal nasal glial heterotopias. Rhinology 2012; 50(2): 211–17. 34. Hussein OF, Collins M, Kang DR. Neuroglial heterotopia causing neonatal airway obstruction: presentation, management, and literature review. Eur J Pediatr 2008; 167(12): 1351–5. 35. Abdel-Aziz M, El-Bosraty H, Qotb M, etal. Nasal encephalocoele: endoscopic excision with anaesthetic consideration. Int J Pediatr Otorhinolaryngol 2010; 74(8): 869–73. 36. Li L, Ma L. Use of propranolol on a nasal hemangioma in an extremely low birthweight premature infant. JDermatol 2015; 42(11): 1101–2. 37. Perkins JA, Chen BS, Saltzman B, et al. Propranolol therapy for reducing the number of nasal infantile hemangioma invasive procedures. JAMA Otolaryngol Head Neck Surg 2014; 140(3): 220–7. 38. Qiu Y, Lin X, Ma G, et al. Eighteen cases of soft tissue atrophy after intralesional bleomycin a5 injections for the treatment of infantile hemangiomas: along-term follow-up. Pediatr Dermatol 2015; 32(2): 188–91. 39. Huth ME, Heimgartner S, Schnyder I, Caversaccio MD. Teratoma of the nasal septum in a neonate: an endoscopic approach. J Pediatr Surg 2008; 43(11): 2102–5. 40. Neskey D, Eloy JA, Casiano RR. Nasal, septal and turbinate anatomy and embryology. Otolaryngol Clin North Am 2009; 42(2): 193–205. 41. Tasca I, Compadretti GC. Immediate correction of nasal septum dislocation in newborns: long-term results. Am J Rhinol 2004; 18(1): 47–51. 42. Cashman EC, Farrell T, ShandilyaM. Nasal birth trauma: a review of appropriate treatment. Int J Otolaryngol 2010; 2010: 752974. 43. Nathan CA, Seid AB. Neonatal rhinitis. Int J Pediatr Otorhinolaryngol 1997; 39(1): 59–65. 44. Riddle ND, Bui MM. Fibrous dysplasia. Arch Pathol Lab Med 2013; 137(1): 134–8.
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24 CHAPTER
PAEDIATRIC RHINOSINUSITIS AND ITS COMPLICATIONS Daniel J. Tweedie
Overview......................................................................................261 Anatomy.......................................................................................261 Definitions....................................................................................262 Severity of disease........................................................................262
Duration of symptoms: Acute versus chronic rhinosinusitis...........263 Paediatric acute rhinosinusitis......................................................263 Paediatric chronic rhinosinusitis ...................................................269 References................................................................................... 275
SEARCH STRATEGY Data in this chapter may be updated by a Medline search using the keywords: paediatric (pediatric) rhinosinusitis, sinusitis, complications, respiratory tract infections, immune deficiency, reflux, primary ciliary dyskinesia, cystic fibrosis, orbital cellulitis, endoscopic sinus surgery, adenoidectomy, and with particular reference to international consensus papers: the European Position Papers on Rhinosinusitis and Nasal Polyps (EPOS, 2007 and 2012).1,2 The American Academy of Otolaryngology – Head and Neck Surgery (AAO-HNS) Consensus Statement on Pediatric Chronic Rhinosinusitis (2015) 3 and the International Consensus Statement on Allergy and Rhinology: Rhinosinusitis (ICAR:RS, 2016).4 These documents have made use of multinational consensus expert opinion and consider the latest available evidence.
OVERVIEW Rhinosinusitis in children is extremely common, typically following viral upper respiratory tract infection, but other factors may be involved.
Paediatric rhinosinusitis (RS) and its complications describe a spectrum of disease, varying in aetiology, pathophysiology and duration, which influences clinical presentation and management. Apart from exposure to the common viral precipitants, known predisposing factors include allergy,5–8 impaired cilial function,9 immune deficiency, gastro-oesophageal reflux,10 environmental pollution, malnutrition, and medical conditions such as diabetes mellitus and other metabolic conditions.2 There are also specific congenital and acquired disorders in which rhinosinusitis is often a major component, for example cystic fibrosis and primary ciliary dyskinesia, and these warrant special consideration. Rhinosinusitis is common in children11–14 but frequently overlooked. It is significantly detrimental to quality of life15 and costly in health economic terms. For example, the estimated annual cost of treatment of
sinusitis in children under 12 years of age in the USA in 2012 was $1.8 billion.16 While paediatric and adult rhinosinusitis are often considered together, these conditions are multifactorial, with predisposing factors and aetiology changing with age, and the childhood and adult forms differ in a number of ways. These have been summarized in the EPOS 2007 document1 and are shown in Table24.1.
ANATOMY The paranasal sinuses are air-containing spaces which are positioned around the nasal cavities, communicating with these via natural ostia. They are lined by type II pseudostratified columnar ciliated epithelium (respiratory mucosal epithelium), with anatomical factors and cilial function optimized to facilitate mucus drainage and preserve a sterile environment.17 Sinus development is progressive throughout childhood. At birth, the maxillary sinuses measure 7 mm in depth, 3 mm in width and 7 mm in height.1 The sphenoidal (sphenoid) sinuses and two or three ethmoidal (ethmoid) cells are found on each side at this stage, and the ethmoid labyrinth is complete by 4years of age. The frontalsinuses, 261
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262 Section 1: Paediatrics TABLE 24.1 The differences between paediatric and adult chronic rhinosinusitis (reproduced with permission2) Young children
Adults
30%
35%
Commensal microflora Coagulase-negative staphylococci Staphylococcus aureus
20%
8%
Haemophilus influenzae
40%
0%
Moraxella catarrhalis
24%
0%
Streptococcus pneumoniae
50%
26%
Corynebacterium species
52%
23%
Streptococcus viridans
30%
4%
Immunity
Immature: defective response to polysaccharide antigens (IgG2, IgA)
Mature, except in a subset
History
Self-limited in time (improves after the age of 6–8years)
No history of spontaneous improvement after certain age
Histology
Mainly neutrophilic disease, less basement membrane thickening and mucus gland hyperplasia, more mast cells
Mainly eosinophils
Endoscopy
Polyps are rare, except in CF
Polyps frequently present
CT-scan
Younger child more diffuse sinusitis, involving all sinus
Sphenoid and posterior sinus less often involved
not present at birth, develop from cranial extension of the ethmoid cells. Once the roof of these frontal cells reaches the level of the upper orbit, at around the age of 5years, they are termed ‘frontal sinuses’. These are demonstrable radiographically in 20–30% of children by 6years18 and more than 85% by 12years of age. The maxillary sinuses expand in parallel, reaching the same level as the nasal floor by 7–8years of age, and are 4–5 mm below this by adulthood. The sphenoid sinuses extend posteriorly over the first 7 years, and are radiologically distinct in 85% of cases by this stage, completing growth by 15 years, although some posterior extension can be seen into adulthood. Sinus expansion subsequently mirrors the dimensional changes of the midface during adolescence and towards adulthood. The maxillary and ethmoid sinuses reach full size by the age of 15 or 16, and the frontal sinuses by 19years of age.19
DEFINITIONS A number of consensus statements have sought to define rhinosinusitis in terms of symptoms and duration, but in practice the clinical diagnosis of rhinosinusitis in children can be challenging, and the diagnosis can be overlooked. Rhinitis and sinusitis typically coexist in the same affected individual, given the close proximity of the nose and paranasal sinuses and their common mucosal lining. Guidelines and consensus documents including EPOS, ICAR:RS and statements from AAO-HNS now typically use the term rhinosinusitis, as opposed to sinusitis, reflecting the clinical and pathophysiological picture.1–4, 20–22
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In a similar fashion as for adults, EPOS 2012 defines paediatric rhinosinusitis clinically as follows: 2 ‘Inflammation of the nose and paranasal sinuses characterized by two or more symptoms, one of which should be either nasal blockage/obstruction/congestion or nasal discharge (anterior/posterior nasal drip): • +/– facial pain/pressure • +/– cough (as opposed to reduction or loss of smell in
the adult definition). and either: • endoscopic signs of:
nasal polyps, and/or mucopurulent discharge primarily from the middle meatus, and/or ❍❍ oedema/mucosal obstruction primarily in the middle meatus and/or: ❍❍ ❍❍
• CT changes: ❍❍
mucosal changes within the osteomeatal complex and/or sinuses’.
These diagnostic criteria are very similar to those endorsed in the AAO-HNS Pediatric RS consensus statement.3
SEVERITY OF DISEASE According to EPOS, 2 as for adults, the severity of paediatric rhinosinusitis can be classed as mild, moderate and
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severe according to a patient-reported visual analogue scale (VAS). However, although also applied to children, this system has only been validated in adults to date. Using a 10 cm scale, between 0 (not troublesome) and 10 (worst thinkable), the patient (or parent) is asked to mark the severity, when asked ‘How troublesome are your (or your child’s) symptoms of rhinosinusitis?’ A score of 0–3 is classed as mild, >3–7 moderate and >7–10 is severe. Ascore of greater than 5 indicates symptoms which affect patient quality of life.
of symptoms. 24 Viral URTIs occur extremely frequently in young children (six episodes per year, 25 more in day care), and it is generally agreed (despite low rates of virus recovery from sinus aspirates26) that these are the precipitant for most cases of paediatric rhinosinusitis. 27,28 In prospective longitudinal studies in young children, some 8% of viral URTI cases in patients 6–35months of age were complicated by acute RS, equivalent to 0.5 episodes per patient year. 25 Epidemiological studies also suggest that:
24
• RS is commonest in younger children, and the preva-
DURATION OF SYMPTOMS: ACUTE VERSUS CHRONIC RHINOSINUSITIS Paediatric chronic rhinosinusitis will be considered later in the chapter, although clinical assessment, investigation and treatment options are similar in certain aspects. Acute rhinosinusitis (ARS) in children is defined by EPOS2 as: ‘Sudden onset of two or more of the symptoms: • nasal blockage/ obstruction/ congestion • or coloured nasal discharge • or cough (daytime and night-time)
for 39 °C and facial pain in many cases. Most cases are viral in aetiology, but bacterial infection should be considered in cases with persistent and severe symptoms and those with deterioration after initially mild symptoms. In terms of relative preponderance between acute and chronic RS, nasal, local and systemic clinical features differ, 30,54,55 as summarized in the EPOS 2007 document1 and shown in Table24.2. Apart from these symptom differences between acute and chronic forms, the distinction in definition is made according to symptom duration, as above, recognizing the common scenario of a child with symptoms of chronic RS who also has infection-related acute exacerbations.
Classification of paediatric ARS by aetiology As with the definitions and criteria discussed above, there is some variation between consensus documents regarding the aetiological classifications and diagnostic features differentiating the subtypes of acute paediatric RS. For children, as for adults, EPOS,1, 2 ICAR:RS 4 and the American Academy of Otolaryngology – Head and Neck Surgery (AAO-HNS)3 define acute viral rhinosinusitis (viral ARS, common cold), where nasal symptoms are present for less than 10days. The most recent guidelines from the AAO-HNS included data on the duration of typical viral symptoms in support of the commonly accepted
TABLE 24.2 Presenting symptoms of rhinosinusitis in children (data reproduced with permission2) Symptom Rhinorrhoea
Preponderance 71 – 80%
Acute/chronic All forms
time frames used to differentiate acute viral RS from ABRS. The EPOS 2012 statement 2 describes acute post-viral rhinosinusitis as an increase of symptoms after 5 days, or persistent symptoms after 10days, but with symptom duration of less than 12weeks. This is not recognized separately by the AAO-HNS guidelines. Acute bacterial rhinosinusitis (ABRS) is diagnosed clinically, according to EPOS,2 by the presence of at least three of: • discoloured discharge (with unilateral predominance)
and purulent secretion in the nasal cavity • severe local pain (with unilateral predominance) • ‘double sickening’ - deterioration after an initial milder
phase of illness • elevated erythrocyte sedimentation rate (ESR)/C-reactive
protein (CRP) • fever (>38 °C).
The latter criterion is not considered diagnostically specific or sensitive for ABRS according to the AAO-HNS criteria. 3,4 For the clinician, the most common presentation of ABRS in children is a persistent and non-improving nasal discharge or cough (or both), which lasts for more than 10days.14 In children, the cough often worsens at night (in 80% of cases), with nasal symptoms (anterior/posterior discharge) in 76%, and associated fever for more than 3days in 63%.56 Halitosis is commonly seen in addition, but associated facial pain and swelling, headache and sore throats are unusual in children. In terms of the variable clinical presentation, a number of consensus panels have identified the following three characteristic presenting features of ABRS which are diagnostically discriminating versus simple viral URTI.57–60 Given the possible diagnostic difficulties already outlined, Wald identified three main clinical features which are suggestive of acute bacterial rhinosinusitis, over and above acute viral RS61 which are supported by other studies:9,62,63 1. Persistent symptoms for more than 10 days, but less than 30 (although the EPOS documents define the duration of acute RS as up to 3months). 2. Onset with severe symptoms (ill appearance, high fever >39 °C, purulent nasal discharge for at least consecutive 3–4 days at the onset of illness and other features including headache and facial pain). 3. Worsening after initial improvement (double sickening) is also strongly suggestive of ABRS.58 In non-allergic children, neutrophil proportions of ≥5% in nasal brushings have a 91% sensitivity and positive predictive value of 84% for maxillary sinusitis.64
Cough
50 – 80%
All forms
Fever
50 – 60%
Acute
Pain
29 – 33%
Acute
Nasal obstruction
70 – 100%
Chronic
Differential diagnoses
Mouth breathing
70 – 100%
Chronic
Ear complaints (recurrent purulent otitis media or OME)
40 – 68%
Chronic
In children with nasal discharge, one should always exclude the possibility of a nasal foreign body or choanal stenosis or atresia. Dental disease may also give rise to sinonasal and facial symptoms. These cases most typically
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present with unilateral findings, and often a suggestive history. These can usually be excluded with careful examination, including nasal endoscopy. Hypertrophy and inflammation of the adenoids (adenoiditis) may also present with nasal obstruction and mucus. This tends to be more long-standing, with a suggestive parental history. Again, nasal endoscopy is useful to determine this. Similarly, parental history may suggest allergic rhinitis as the basis for nasal symptoms.65
Clinical assessment of a child with acute rhinosinusitis Considering the clinical features outlined above, the history and clinical examination should be focused towards confirming the diagnosis of ARS, distinguishing likely bacterial versus viral aetiology and excluding local and systemic complications.
HISTORY The history should include enquiry about current symptoms, past history and risk factors (Box 24.1).
CLINICAL EXAMINATION The clinical examination may be challenging in young children, but should ideally include: • general observations, including temperature and neu-
rological status • complete ENT and head and neck examination (includ-
ing the pharynx, oral cavity and teeth, orbits, ocular BOX 24.1 Clinical assessment – history Current symptoms
Past history and risk factors
Onset
Similar episodes of sinusitis and RTI
Duration Precipitants (viral URTI, nasal foreign body)
Previous use of antibiotics
Improvement and deterioration in clinical picture (‘doublesickening’)
Prior hospitalization and sinonasal surgery
Nasal/paranasal symptoms (congestion, mucopurulent discharge)
Day-care arrangements
Facial/orbital pain or swelling Headaches and neurological sequelae Cough Fever (severity and duration) Hyposmia Oral/dental/pharyngeal symptoms
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Comorbidities
Allergy history Exposure to cigarette smoke Immunization history
motility, vision, facial palpation and percussion over the paranasal sinuses, pupillary responses, cranial nerves) • anterior rhinoscopy (oedema, inflammation, mucus/ pus, foreign body) – this can by lifting up the tip of the nose and/or use of an otoscope66,67 • nasal endoscopy (rigid or flexible), including middle meatal swabs for culture and sensitivity.
24
The nasal and pharyngeal mucosa is typically erythematous, with yellow/green nasal discharge of varying consistency. Studies have suggested the relative prevalence of associated features: post-nasal drip of mucus into the pharynx in 60%, 55 middle meatal pus in 50% and oedema of the inferior turbinates in 29%.54 Adenotonsillar enlargement and modest, tender cervical lymphadenopathy is also sometimes seen.66,68
Acute fungal rhinosinusitis in children This is rare, and diagnosis and workup are already considered in Vol1, Chapter94. Allergic fungal rhinosinusitis is addressed later in this chapter.
Investigations in children with rhinosinusitis The relevance and relative indications for investigations will depend upon the clinical presentation of rhinosinusitis, including the duration and severity of symptoms, complications and underlying comorbidities. For example, an acute, infective episode will direct a different investigative approach than a chronic, inflammatory case, where atypical organisms and/ or underlying inflammatory conditions or immunocompromise might be suspected. Although microbiological and radiological investigations are certainly indicated in complicated cases, in most instances a clinical assessment of the child with acute RS is sufficient. In chronic RS, unusual organisms may be involved, and surgery may be warranted, prompting investigations to inform further management (see below).
MICROBIOLOGY Cultures from nasal mucus are not needed in most cases of uncomplicated ARS. But there are some situations where this is needed. As mentioned above, antral aspiration, with measures to reduce contamination, remains the gold standard although it is impractical in everyday practice. This is reserved for particularly severe or resistant cases, or where surgical intervention is undertaken. An alternative method is to take a swab from the maxillary sinus 52 under endoscopic guidance. Nasal contamination is suggested by low bacterial quantities in the sample from a patient with significant symptoms, highly suggestive of acute bacterial RS, so isolates are considered positive when they contain more than 10 000 CFU/mL. 61
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Indications for culture are:69 • severe symptoms and toxic patient • illness not improving after 48–72 hours of medical
treatment • immunocompromised patient • suppurative complications (orbital, intracranial) or systemic sepsis.
TABLE 24.3 Treatment evidence and recommendations for children with acute rhinosinusitis (reproduced with permission2) Therapy
Level
Grade of recommendation
Relevance
Antibiotic
Ia
A
Yes, in ABRS
Topical steroid
Ia
A
Yes, mainly in postviral ARS studies only done in children 12years and older
Addition of topical steroid to antibiotic
Ia
A
Yes, in ABRS
Mucolytics (erdosteine)
1b (–)*
A(–)**
No
Saline irrigation
IV
D
Yes
Oral antihistamine
IV
D
No
Decongestants
IV
D
No
IMAGING The diagnosis of rhinosinusitis in children is typically clinical and usually does not require imaging. In any event, radiological investigations will not distinguish between viral and bacterial RS.70 Transillumination and ultrasound have been considered, but are limited in young children by thickness of soft tissues and the hard palate.71 Plain sinus radiographs, once in common use, are now not indicated in the investigation of RS, as they correlate very poorly with CT findings. More than 50% of children with viral URTI will have abnormal maxillary sinus radiographs.72 The radiation exposure is not justified in these circumstances. 23 Imaging is occasionally indicated, for the same reasons as for microbiological culture above. Computerized tomography (CT) is the modality of choice, with intravenous contrast if intracranial complications are to be excluded. This is performed very quickly, usually without the need for sedation, and it is therefore favoured over MRI for these reasons.73 But it is important to note that even asymptomatic children have a high incidence of abnormalities on CT,72, 74 which by definition require no treatment. Additionally, in young adults, it has been found that 87% of those recovering from a viral URTI have maxillary sinus changes on CT. 27 Therefore any CT abnormalities in patients with RS must be correlated against clinical findings. While CT has many advantages, MRI offers greater soft-tissue resolution 56 and does not involve any radiation exposure. The American College of Radiology has commented that CT and MRI are complementary modalities in the investigation of suspected orbital and intracranial complications of ABRS.75 However, the bony resolution of CT is essential if surgery is considered, particularly given that the size of the developing sinuses in children often differs significantly on the two sides. This can be combined with image guidance systems at the time of surgical intervention. In addition, the practicalities and speed of CT and its widespread availability mean that it remains the most frequently used radiological modality in cases of RS, often as a sole imaging investigation.
Treatment of acute rhinosinusitis in children The evidence based management of children with ARS has been presented very clearly in the EPOS 2012 document, 2 and is outlined in Table24.3.
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*1b (–): 1b study with negative outcome; **A(–): grade A recommendation not to use.
ANTIBIOTICS Antibiotics are the mainstay of management of children with ARS. Meta-analysis of randomized controlled trials (RCTs), which included 17 studies (three of these in children), and 2915 adults and 376 children) showed an increase in resolution of symptoms. This effect was significant but modest,76 and suggests that antibiotics may simply hasten slightly the resolution of uncomplicated cases of ARS, but that most cases will improve, irrespective of treatment. The choice of antibiotics should ensure activity against the likely organisms, and include amoxicillin, a moxicillin-clavalunate and cephalosporins (the lat ter two covering beta-lactamase-producing organisms). Other options for patients with allergies to these agents include macrolides (azithromycin, clarithromycin) or trimethoprim/sulfamethoxazole. There is no formal recommendation for dose and duration of antibiotic use, which may be adjusted according to severity of symptoms and other factors.
INTRANASAL STEROIDS There is evidence to support the use of intranasal steroids in conjunction with antibiotics in the management of children with ARS. In a specific paediatric trial, where 89 children received amoxicillin-clavalunate and either intranasal budesonide or placebo, significant improvements were seen by the end of the second week in those receiving intranasal steroids compared to placebo.77 Anumber of other trials have considered adults and older children (12 years and above), demonstrating benefits in those receiving intranasal steroids during ARS, typically with antibiotics. 2, 77 However, while there is also evidence to
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support the safety and efficacy of intranasal steroids for allergic rhinitis in younger children, data are so far lacking for ARS in this group, and the benefits are less certain. Therefore clinical judgement on an individual basis will determine whether intranasal steroids are offered in this context, most likely as an adjunct to antibiotics.
OTHER MEASURES While saline douching may offer some benefit in children with ARS, there is no strong evidence to support the use of mucolytics and oral antihistamines in this context. 57
Complications of paediatric acute rhinosinusitis With the advent of antibiotics and improved standards and availability of medical care, the incidence and associated mortality from complications of paediatric ARS has declined. But these complications still occur and require prompt diagnosis and specialized management. The overall rate of complications is 3–10 cases per million per year, equivalent to 1 per 12 000 ARS episodes. 2 Complications are more often seen in winter months,78 and significantly more often in males than females. Importantly, studies from the Netherlands and the UK have shown that prescribing antibiotics in ARS does not prevent the occurrence of complications.79,80 Complications occur as follows, although in some cases a combination may be seen:81 orbital (60–75%), intracranial (15–20%), osseous (5–10%). Rhinosinusitis is the presumed underlying cause in many cases of peri-orbital sepsis (10% of cases of preseptal cellulitis, 90% of cases of orbital cellulitis/subperiosteal abscess/orbital abscess)82 and about 10% of intracranial suppuration.83, 84 Orbital complications are more often seen in small children, although intracranial complications can occur at all ages, particularly in the second and third decades of life.79,85
ORBITAL COMPLICATIONS Orbital complications can occur as a result of direct spread of infection across the lamina papyracea, or via a haematogenous route through small veins.86 This is most likely from the ethmoid sinuses, and less often the maxillary, frontal and sphenoid sinuses in decreasing frequency.79,87 Such complications may occur with minimal pain or systemic upset.88 The Chandler classification is widely used to describe orbital complications of ARS81 with respect to the orbital septum. This identifies five stages of orbital sepsis: 1. 2. 3. 4. 5.
Inflammatory oedema (preseptal cellulitis) Orbital cellulitis Subperiosteal abscess Orbital abscess Cavernous sinus thrombosis.
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It should be noted, however, that these are not necessarily seen clinically in a sequential manner. For example, intracranial complications including cavernous sinus thrombosis (see below) may occur without prior abscess formation. Additionally, the inclusion of preseptal cellulitis has also been questioned, which by definition is not an orbital infection, and is far less commonly seen as a result of ARS than true orbital complications. Other classification systems have therefore also been considered. 89,90
24
Preseptal cellulitis Preseptal cellulitis describes inflammation of the eyelid and conjunctiva, anterior to the orbital septum). It may occur as a complication of upper respiratory tract infection, dacryocystitis or skin infection and less often sinusitis.91–94 Presenting features include eyelid oedema and erythema, orbital pain, with or without fever and systemic upset. There is typically no proptosis or restriction of eye movements, but this can be challenging to assess in small children. Preseptal cellulitis usually responds to an oral antibiotic but may spread beyond the orbital septum, with intraorbital complications. As such, it can usually be assessed clinically, but imaging is sometimes considered. True orbital complications, while presented individually, can be considered together in terms of a more severe clinical presentation, and require far more aggressive investigation and management strategies. Orbital cellulitis Orbital cellulitis and subperiosteal abscess are seen more commonly than preseptal cellulitis as a result of ARS.91, 93 Inflammation behind the orbital septum, within the tight confines of the orbit itself, will reduce the range of eye movements and produce pain on movement, diplopia, chemosis (conjunctival oedema) and proptosis. This requires a proactive management regime, including treatment with intravenous antibiotics and cross-sectional imaging to exclude orbital or intracranial abscess and other complications. Subperiosteal and orbital abscess A subperiosteal abscess forms between the periorbita (softtissue orbital contents) and the sinuses, and is ‘extraconal’, lying outside the cone of ocular muscles. The clinical features of a subperiosteal abscess are similar to those of orbital cellulitis: oedema, erythema, chemosis and proptosis with painful, limited eye movements. Systemic upset and derangement of inflammatory markers may be more pronounced95 but they cannot be relied upon to discriminate an abscess from cellulitis. Orbital abscess is less commonly seen, with a frequency of between 8.3%96 and 13% in studies of orbital complications in children.97 This is ‘intraconal’, within the cone of the ocular muscles, and may result from diagnostic delay or immunosuppression.98
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MANAGEMENT OF ORBITAL COMPLICATIONS Orbital complications and their management are considered together, although in some cases these can coexist with intracranial and osseous complications, in many cases with similar investigation and treatment strategies. The child’s vision is at risk, and there is also the possibility of life-threatening intracranial complications. Theimportance of a high index of suspicion, comprehensive history and clinical assessment cannot be overstated, as well as a considered, proactive approach to investigation, medical and surgical management. This mandates a multispeciality approach, with input from otolaryngology, paediatrics, ophthalmology, neurosurgery and microbiology personnel. Clinical assessment Considering the clinical features above, history and examination should include assessment of the eyes with respect to swelling, proptosis, movements, colour vision and acuity, plus assessment of the child’s general condition, vital signs, level of consciousness and neurological status. This is undertaken with help from paediatric and ophthalmology colleagues. Twice-daily ophthalmology review of colour vision and acuity is recommended.99 If there is failure to respond to medical management or otherwise any clinical suspicion, cross-sectional imaging is indicated.99 The first-line investigation is CT with contrast, including orbital detail, the paranasal sinuses and brain, with a view to assessing orbital and intracranial complications adequately. This is usually quick to perform and normally possible in an awake child. CT may allow distinction between cellulitis and orbital/subperiosteal abscess. In the case of subperiosteal abscess, findings include oedema of the medial rectus muscle, lateralization of the periorbita, and displacement of the globe downward and laterally. Orbital abscess is associated with obliteration of the detail of the extraocular muscle and the optic nerve by a confluent mass, sometimes with gas bubbles from anaerobic bacteria. The predictive accuracy of a clinical diagnosis has been found to be 82% and the accuracy of CT 91%. MRI may be useful in cases of diagnostic uncertainty or when intracranial complications are suspected,100, 101 but this usually requires sedation or general anaesthesia in young children, so this should not delay management. Treatment Initial medical treatment consists of high-dose intravenous antibiotics (according to local protocols), covering aerobic and anaerobic organisms, plus analgesia/antipyretics, intravenous fluids and adjuncts including intranasal steroids and saline douching. Antibiotics can be converted to an oral preparation when the patient has been afebrile for 48hours.102 Where there is evidence of an abscess on CT and/ or absence of clinical improvement after 24–48 hours of intravenous antibiotics, orbital exploration and
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drainage is indicated.96 Current consensus from the EPOS 2012 document 2 suggests that preseptal and orbital cellulitis should be treated with antibiotics, while subperiosteal and intraorbital abscesses require surgical exploration. In adults, drainage may be attempted endoscopically in expert hands, with adjuvant endoscopic sinus surgery (including ethmoidectomy)95 and the consensus is to attempt to drain the abscess endoscopically by opening the lamina papyracea and draining the abscess after completing an endoscopic ethmoidectomy. However, in children with small noses and paranasal sinuses and marked nasal congestion, access and the quality of the endoscopic surgical field may be extremely unfavourable, such that external approaches (via a modified Lynch Howarth incision in the case of medial subperiosteal abscess or eyelid approaches for superior/lateral orbital abscess) are often used. However, good outcomes can be seen with non-surgical management, with intravenous antibiotics in small children with subperiosteal abscess, 98, 100, 102 provided the following apply: • There is clinical improvement within 24–48 hours. • There is no decrease in colour vision or visual acuity. • The abscess is subperiosteal and small (12weeks.’
This duration is endorsed by the ICAR:RS 4 and AAOHNS3 consensus statements.
Clinical overview Paediatric CRS has not been as extensively studied as in adults. The relative contribution of anatomical and other factors will differ between children and adults. Only a minority of cases present for treatment, and this is
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270 Section 1: Paediatrics
typically medical, with surgery reserved for more resistant and severe cases. 2 While the above definition is clear, confirming a diagnosis of CRS in children is often challenging or even impossible.2 The precise history may be difficult to establish, particularly separating persistent symptoms lasting more than 12weeks from frequently recurrent symptoms, interspersed with short periods of remission. Examination is not always straightforward, nasal endoscopy may not be tolerated and imaging is withheld in most cases. Even when CT scanning is undertaken, it should be noted that 18–45% of normal controls may have sinus-related changes.116, 117 In one study, children without CRS were found to have a mean Lund-MacKay score of 2.8.118 With this in mind, it has been proposed that a Lund-MacKay score greater than 5 in children indicates CRS,119 but in reality most children with CRS will be managed on a clinical basis and will not undergo imaging. There is also significant overlap with other very common childhood upper respiratory conditions, including recurrent viral URTI, allergic rhinitis and adenoiditis and/ or adenoidal hypertrophy. In fact, the EPOS 2012 consensus group deemed it impossible to distinguish CRS from adenoid-related pathology in young children. 2 Given these clinical and diagnostic uncertainties, it is important to establish which clinical features have the highest positive predictive value for CRS. Studies have suggested that the four most common features are:120,121 • • • •
cough, particularly chronic cough rhinorrhoea nasal congestion post-nasal drip.
One study examined the correlation between chronic cough (>4weeks) and CT sinus changes. In these patients, abnormalities on sinus CT were found in 66% of cases, with mild changes in 14%, moderate changes in 19% and severe changes in 33% of all cases.122
Pathophysiology of paediatric CRS Some of the contributing factors in children with ARS will also apply in CRS, but it is worth considering separately the particular factors involved in CRS. This also applies to the differences in aetiology, pathology and management of CRS between children and adults.
Normal function of the nose and paranasal sinuses depends upon the health and integrity of the ciliated, columnar mucosal epithelium, and the overall anatomical pathways for mucus clearance, aeration and sinus drainage. The osteomeatal complex (OMC) is central to these considerations, which functionally represents the final common drainage pathway for the majority of the paranasal sinuses (frontal anterior/middle ethmoid cells and maxillary sinuses). The OMC comprises five structures: • maxillary ostium: the main drainage channel of the
maxillary sinus into the middle meatus • infundibulum: a common channel draining the ostia
of the maxillary and ethmoid sinuses to the hiatus semilunaris • bulla ethmoidalis: a single air cell which projects infero medially over the hiatus semilunaris • uncinate process: a crescent-shaped process arising from the posteromedial aspect of the nasolacrimal duct, forming the anterior border of the hiatus semilunaris • hiatus semilunaris: the final drainage passage, between the bulla ethmoidalis superiorly and free edge of the uncinate process. The sphenoid and posterior ethmoid cells drain separately into the sphenoethmoidal recess. The region of the OMC is subject to significant anatomical variation, often with little effect on sinonasal function. But mechanical obstruction of this area, as a result of congenital malformation, trauma, surgery and, more commonly, mucosal inflammation, may greatly impair its functional efficacy. This is considered to be the key event in most cases of chronic rhinosinusitis, although a diverse group of precipitating factors are involved. Obstruction of sinus drainage leads to retained secretions, reduced sinus aeration, mucosal hypoxia and dysfunction. Mucosal oedema and cilial impairment, with stimulation of further mucus production, lead to mucus stasis, further secretion retention and secondary infection. 56
Contributing factors in paediatric CRS With these considerations in mind, contributing factors for CRS in children can be subdivided into local/anatomical, inflammatory and infective, and systemic (Box24.2). 56
BOX 24.2 Contributing factors in paediatric CRS Local factors
Inflammatory and infective factors
Systemic conditions
Sinus obstruction (anatomical, e.g.concha bullosa)
Viral URTI
Immune deficiency
Septal deviation
Bacterial infection
Cystic fibrosis
Nasal polyps
Allergy
Primary ciliary dyskinesia
Adenoidal inflammation
Gastro-oesophageal reflux disease (GORD)
Trauma/iatrogenic
Tobacco smoke
Foreign body
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The variation in contributing factors, and indeed the heterogeneity of individual anatomical variations and comorbidities, necessitates a circumspect approach in the investigation and management of such cases. Some particular issues warrant special consideration and are discussed below.
MICROBIAL FLORA Microbial involvement in the pathogenesis of CRS has been increasingly considered, in addition to the cases of acute and chronic infection with the typical bacterial pathogens associated with ARS (above). It has traditionally been thought that the paranasal sinuses are sterile, but some studies have now suggested that this is not thecase. In fact, reduced diversity of sinus microbial flora has been demonstrated in some cases with CRS, compared to healthy controls.123 Lactobacillus sakei was shown in murine models of CRS to have a protective effect. In cases of CRS, it could therefore be possible that use of antibiotics may reduce the naturally protective effects of these organisms.
BACTERIAL INFECTION: EXOTOXINS AND BIOFILMS On the other hand, infection by pathogenic organisms (as opposed to colonization by non-pathogenic flora) is a precipitant in some cases. The organisms involved are those which are typically implicated in acute bacterial RS (above). The mechanisms whereby these infections lead on to CRS are under review. Bacterial exotoxins may have an important role, with provocation of an excessive immune response by these mediators. For example, in patients with inflammatory nasal polyps, staphylococcal exotoxins have been found to affect T-cell function.124 Biofilms (aggregates of bacteria within an external matrix of proteins, nucleic acids and polysaccharides) are also thought to be important, greatly decreasing the efficacy of antimicrobials. In fact, biofilms have been found in up to 80% of sinus biopsies from patients undergoing functional endoscopic sinus surgery (FESS),125 and adenoid tissue, abundant in young children, may also harbour large volumes of biofilms, contributing to these processes.126
ADENOIDS The role of the adenoids in the pathogenesis of paediatric RS, especially in chronic cases, is increasingly appreciated. It is also known that adenoidectomy reduces or eliminates symptoms in a high proportion of children with CRS. This is covered extensively in the EPOS 2012 document. 2 Several findings from a number of studies have highlighted this presumed aetiopathologic relationship. • Bacterial ‘reservoir’. In children with CRS, the bacte-
ria cultured from middle meatal swabs and adenoidal core cultures are very similar, including Streptococcus pneumoniae, group A streptococci, Haemophilus influenzae, Staphylococcus aureus and coagulase-negative
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staphylococci.127 The positive predictive value of adenoid core culture in predicting middle meatal culture results in one study was 91.5%, with a negative predictive value of 84.3%.127 Interestingly, adenoid size alone has not been shown to correlate with the severity of disease on CT,128 suggesting that the role of the adenoids as a reservoir for bacteria and associated inflammation (‘adenoiditis’) is more relevant than the size of the tissues (pure adenoidal hypertrophy). • Biofilms are thought to have an important role within inflamed adenoid tissues in cases of adenoiditis and are also implicated in CRS in children, in the same patients. One study compared the biofilm volume on the surface of the adenoids excised in cases of adenoiditis/CRS versus those removed purely for obstructive symptoms. Although carried out in small numbers of cases, there was a major difference in the surface area of the adenoid tissue covered in biofilms between children with CRS symptoms, (88–99% of the surface area) and those with simple obstruction (0–6.5% of the surface area).129 • Immunological effects of the adenoid tissue have also been considered. In cases of CRS, adenoid tissue has lower IgA expression than in comparable tissue of children with simple adenoidal hypertrophy but no CRS symptoms.130 Conversely, inflammatory markers (such as tissue remodelling cytokines, transforming growth factor β (TGF-β1), matrix metalloproteases MMP-2 and MMP-9) were found at higher levels in the adenoids of CRS patients than in controls.131
24
These studies, while small, correlate well with the near-identical clinical pictures of CRS and adenoiditis in children, and the relative benefit of adenoidectomy, independent of adenoid size, in the management of these patients. This is further addressed in ‘Surgical management’ below.
GASTRO-OESOPHAGEAL REFLUX DISEASE Gastro-oesophageal reflux disease (GORD) is now recognized as a feature in a proportion of children with CRS. A large retrospective study comparing children with a diagnosis of GORD with non-reflux controls showed significantly higher rates of diagnosis of concomitant RS than in the non-reflux group (4.19% vs 1.35% respectively).132 Effective antireflux therapy has been shown to reduce the need for sinus surgery in many of these cases.133 But the presence of these conditions together, while suggestive, does not confirm a causal relationship. Further controlled trials will be required before antireflux medical treatment of children with CRS can be recommended routinely.
ALLERGY AND ALLERGIC RHINITIS Children with CRS will often have an atopic history, including allergic rhinitis. But both conditions are common within the paediatric population and, again, their coexistence within the same individual does not demonstrate causality per se.
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A number of studies have examined this relationship, albeit comprising relatively small numbers of children. Their findings are mixed, suggesting that the link between the two domains is not clear-cut. One examined the correlation between radioallergosorbent test (RAST) test and CT findings in patients (children and adults) with CRS symptoms which were resistant to treatment. Of 42 patients, 40% were atopic and 60% had negative RAST tests; the RAST-positive group also had more pronounced CT findings than the RAST-negative group.134 But other studies have not shown significant correlations between atopic and non-atopic groups, either in terms of CT changes,135,136 or in the prevalence of atopy between children with and without a history of CRS.137 The lack of consistent data has led the EPOS consensus group to suggest that there is probably no link between allergic rhinitis and CRS in children. 2
ALLERGIC FUNGAL RHINOSINUSITIS Allergic fungal rhinosinusitis (AFRS) results from hypersensitivity to fungi. It has a relatively high prevalence in adults with CRS who undergo surgery, and is estimated to occur in 5% to 10% of adults with chronic sinusitis who require surgery.138 Children with allergic fungal rhinosinusitis may present with proptosis and polyposis.139 Treatment includes sinus surgery to remove inflammatory tissue, polyps and fungus. Evidence is lacking for other treatments in children, although topical and systemic steroids and immunotherapy may be beneficial. The clinical diagnosis is easily overlooked, so a high index of suspicion is needed. Typical CT findings are unilateral sinus opacification with non-erosive expansion of the sinuses on CT.
ASTHMA Some small studies examining the clinical course of children with asthma and CRS have shown marked improvements in asthma-related measures after medical and/or surgical treatment of CRS120 (need for asthma medications, spirometry, wheezing and inflammatory markers in nasal lavage).140 The improvements were seen to reverse once the CRS relapsed. These findings suggest that successful treatment of CRS in patients with asthma will help better control their chest symptoms, as is the case for allergic rhinitis. But while the links between asthma and allergic rhinitis are well documented, the relationship between asthma and CRS in children has not been demonstrated definitively by controlled trials.
IMMUNODEFICIENCY A number of studies have evaluated the relationship between CRS in children and underlying immune deficiencies. These comprise series where cases of persistent CRS, which have been resistant to medical treatment, were investigated for a number of different immune parameters. Relatively small numbers of children were investigated in each series, with very variable results, including low IgA, Ig1 and/or Ig3 levels, poor pneumococcal antigen7responses in some cases
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(but normal vaccine responses in others).141–143 Additionally, one study examined the clinical response of six children with refractory CRS who were treated with intravenous immunoglobulin for 1 year.144 This showed a significant reduction in sinusitis episodes, total number of days of antibiotic usage and improved CT findings. These results suggest that various forms of immunodeficiency may have a role in a proportion of children with CRS, particularly in resistant cases. The EPOS 2012 consensus group therefore suggest evaluation of immune function in such cases, with quantification of Ig levels, and responses to various immunizations, including pneumococcal conjugate vaccine, tetanus and diphtheria.2
CYSTIC FIBROSIS Cystic fibrosis (CF) is an autosomal recessive condition affecting 1 in 2500 live births in the UK, and is associated with high incidence of CRS and nasal polyposis in children. The mutated CFTR gene (cystic fibrosis transmembrane conductance regulator gene, long arm of chromosome 7–7q31.2) leads to abnormal cyclic AMPmediated transmembrane chloride transport in epithelia and exocrine glands. This gives rise to multiorgan pathologies, including chronic pulmonary infections and bronchiectasis, pancreatic dysfunction and infertility. CRS is extremely common in these patients, and nasal polyposis is a feature in 7–50%.145,146 Genetic testing and screening for suspected CF More than 1000 mutations of the CFTR are known. The most commonly encountered mutation leads to a single amino acid deletion at position 508 in the CFTR protein (ΔF508). However, such is the number of possible mutations, and possible allelic combinations between individuals, that CF is not always straightforward to diagnose. It may be missed with screening, and can present variably (a disease spectrum), sometimes even into late childhood or adulthood. Neonatal screening for the condition (as part of the Guthrie heel prick blood tests) has been offered universally in the UK since October 2007, having commenced earlier in some areas. This is also undertaken in a number of other countries. Blood levels of immunoreactive trypsinogen (IRT) are known to be high in cases of CF,147 and this forms the basis of the CF component of the Guthrie test, undertaken universally within 5days of life. Babies with high IRT levels at or above the 99.5th centile are forwarded for genetic testing across four common loci (a four-panel DNA test, including ΔF508), with subsequent protocols designed to maximize accurate CF diagnosis as early as possible, while limiting parental anxiety associated with delays and false positives. Babies with mutations in both CFTR genes have a presumptive diagnosis of CF and are reported as ‘CF suspected’, before referral to a paediatric service for evaluation (clinical assessment, sweat test and confirmatory mutation analysis). Babies with one mutation detected will most often have a normal second allele, and are therefore
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asymptomaticcarriers. But a minority have an abnormal second allele which is not detected by the four-panel test. To identify such cases, a second IRT test is undertaken between day 21 and day 28, using a repeat dried blood spot specimen. Those with a high IRT on this second sample are reported ‘CF suspected’ and are referred as above, while those with IRT levels below a defined cut-off are considered probable carriers with a low risk of CF. Those babies who have no detected mutation and a first IRT above the 99.5th centile but below the 99.9th centile are reported as ‘CF not suspected’. Babies with an initial IRT at or above the 99.9th centile require a second IRT, as above, at 21–28days; a second IRT below a given cut-off is reported as ‘CF not suspected’, but those with a high second IRT above the cut-off are considered ‘CF suspected’ and are referred on, with a presumptive diagnosis. Sweat test Owing to the great genetic heterogeneity of the condition, however, any genetic screening is accompanied by a sweat test, assaying the chloride levels in sweat induced by pilocarpine iontophoresis.148 At the test site (usually the forearm), an electrode is positioned over gauze containing pilocarpine (a parasympathomimetic alkaloid) and an electrolyte solution. A second electrode is placed on untreated skin nearby, and a small electric current is applied, which draws sweat out of the skin. This is collected using preweighed filter paper over 30minutes under controlled conditions to prevent contamination and evaporation. Weighing and subsequent analysis of the sweat sample will determine the chloride level, and this is compared against age-appropriate levels (for children under or over 6months of age). The sodium level should be commensurate with the chloride level. If not, then technical errors may be responsible; the reliability of the sweat test may be compromised by an insufficient sample, evaporation, contamination and other metabolic conditions, for example. A reliable positive test with high chloride levels on two separate days is diagnostic of CF. Endoscopic sinus surgery in patients with cystic fibrosis Surgical management of this group has been considered in the EPOS 2012 paper, 2 but studies are relatively small. The limited evidence from these studies suggests a significantly increased incidence of nasal polyps in children with CF, when compared with non-CF patients with CRS, and a high correlation between positive culture of Pseudomonas from sinonasal samples and underlying CF.149 A further study demonstrated that, although certain measures, such as hospital admissions, were unaffected by ESS in this paediatric CF group, quality of life, nasal obstruction, discharge and other symptoms were significantly improved by ESS/polypectomy.150 It would therefore appear reasonable to consider surgical management of children with CF who have sinonasal manifestations, bearing in mind the existing disease burden and the likelihood of symptom recurrence requiring multiple procedures throughout life. As such,
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theextent of surgery should be carefully considered on an individual basis, with the aim of maximizing benefits but limiting the risks of morbidity and complications.
24
PRIMARY CILIARY DYSKINESIA Primary ciliary dyskinesia (PCD) is an autosomal recessive condition, involving dysfunction of cilia, present in 1 of 15 000 of the population.151 The normal movement of mucus by mucociliary transport toward the natural ostia of the sinuses and nasopharynx is disrupted. Half of children with PCD also have situs inversus, bronchiectasis and CRS, collectively termed Kartagener syndrome. The diagnosis of PCD, like CF, should be suspected in children with atypical asthma, bronchiectasis, chronic wet cough or rhinosinusitis. Additionally, in PCD, children are prone to chronic and resistant otitis media, with persistent middle ear effusion. This tends to respond poorly to ventilation tubes, with persistent mucoid discharge.9 Screening tests for PCD include nasal nitric oxide (NO) (with lower NO levels than controls) and the saccharin test, demonstrating slower mucociliary transit time from the anterior nares to the nasopharynx. Specific diagnosis involves examination of cilia (from mucosal brushings) by light and electron microscopy. In cases of PCD, this most often demonstrates lack of outer dynein arms, or a combined lack of both inner and outer dynein arms.152 In contrast to CF cases, nasal polyposis is not typically encountered, despite significant sinonasal symptoms in many cases.153
Management of chronic rhinosinusitis in children ASSESSMENT AND DIAGNOSTIC WORKUP The clinical assessment of children with CRS is similar to that already described in cases of ARS. History, examination and further investigations should be targeted according to individual presentation, bearing in mind the possibility of underlying aetiologies, including adenoidal hypertrophy, and rarer conditions including CF, PCD, allergic fungal rhinosinusitis and immunodeficiency, for example. This heterogeneity of conditions demands a high index of suspicion when managing children with CRS, altering the threshold for referral for other specialist consultations and diagnostic tests, including cross-sectional imaging (CT and MRI) and culture of nasal samples. The sensitivity and specificity of sampling from the middle meatus (directly or under endoscopic visualization) for microbial culture has already been addressed.52,53 Similarly, the rationale for CT and MRI, and their advantages and limitations have also been discussed.119,120 Plain radiographs do not correlate well with CT findings in CRS.154 CT offers an excellent road map for surgical treatment, identifying anatomical variants and areas of bony erosion or distortion from disease.155 Particular diagnoses in the context of CRS may be revealed by CT, for instance in the case of allergic fungal rhinosinusitis and CF. Characteristic features of AFS are expansile disease with attenuation of the skull base and orbital wall,
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274 Section 1: Paediatrics
often with a ‘starry sky’ speckled pattern of high attenuation on soft tissue and bone windows, as a result of thick allergic mucin and calcification. This is corroborated by MRI, with low signal on T1 weighting in areas of mucin, with signal void on T2 weighting, plus a high signal rim of surrounding mucosal inflammation.156 In patients with CF, CT demonstrates panopacification of the sinuses and medial displacement of the lateral nasal wall, which may obstruct the nasal passages.157
MEDICAL THERAPY In contrast to CRS in adults, young children with CRS typically can be managed conservatively, as symptoms tend to resolve spontaneously.158 A moderate-sized prospective study following 169patients over 6months demonstrated that no children with persistent runny nose developed severe clinical symptoms or complications of CRS.30 Data regarding specific medical treatment for CRS in children are very limited. The levels of evidence for each treatment are summarized in the EPOS 2012 document 2 and shown in Table24.4. While antibiotics have a modest overall benefit in the management of short-term RS symptoms, no such benefits have been demonstrated in the long term for children with CRS in one study.159 No studies have demonstrated conclusive benefits of topical steroids in children with CRS, although a number of studies have demonstrated significant benefits in rhinitis, such that the EPOS consensus supports their use in paediatric CRS, albeit with little supporting evidence. 2 Nasal steroids in asthmatic patients with CRS may also reduce bronchial hyper-reactivity.140 Saline douching with normal160 or hypertonic saline161 has some demonstrable efficacy in CRS, and may also improve parallel asthma symptoms,162 but antral washouts are not recommended, with little evidence to support them. Treatment of active gastro-oesophageal reflux is also believed to improve CRS symptoms in patients affected by both conditions.133,163
SURGICAL MANAGEMENT
children with CRS.2 Whether the most important factor is the presence of the adenoids per se, their size or related bacterial colonization and inflammation (adenoiditis) is unclear, but there is likely to be a degree of heterogeneity in this context among young children with CRS. Nasal obstruction, snoring and hyponasal speech occur more often in children with adenoid hypertrophy while symptoms of rhinorrhoea, cough, headache, signs of mouth breathing, and abnormalities on anterior rhinoscopy occur as frequently in children with chronic rhinosinusitis as in children with adenoid hypertrophy.164 In one study, antibiotic-resistant bacteria were found on culture of adenoid tissue in 56% of children undergoing adenoidectomy for hypertrophy plus otitis media with effusion and CRS, compared to 22% undergoing adenoidectomy purely for hypertrophy without those complications.165 In another study, no significant correlation was found between the size of the adenoid and the presence of purulent secretions in the middle meatus on fibreoptic examination in 420children aged 1–7years. There was, however, a very significant correlation between the size of the adenoid and the complaints of mouth breathing and snoring.166 Endoscopic sinus surgery Functional endoscopic sinus surgery (FESS) is a common intervention in adults with CRS, but its role in the management of paediatric CRS remains controversial. Certainly, conservative measures, initial medical management and adenoidectomy should be considered first, and where appropriate other underlying conditions should be excluded, before FESS is undertaken. Surgical management decisions will also be influenced by the presence of underlying pathology such as CF, PCD and AFS. Importantly, washout procedures which were previously commonly undertaken (antral washouts, inferior meatal antrostomy and Caldwell Luc procedures) are ineffective and not recommended in this context.1,66,67,167,168 Absolute indications for FESS in children are the following: 69 • complete nasal obstruction in cystic fibrosis due to
Adenoidectomy The role of the adenoids in the pathogenesis of paediatric rhinosinusitis remains uncertain, but adenoidectomy is known to improve symptoms in at least half of young
massive polyposis or due to medialization of the lateral nasal wall • orbital abscess • intracranial complications
TABLE 24.4 Treatment evidence and recommendations for children with chronic rhinosinusitis (reproduced with permission2) Therapy
Relevance
Ia
A
Yes
Therapy for gastro-oesophageal reflux
III
C
No Yes
IV
D
no data
D
Oral antibiotic short term 40, and oxygen saturation nadir 1500 g extubation failure secondary to laryngeal pathology no assisted ventilation for 10days before evaluation supplemental O2 requirement 100) series of paediatric tracheostomies and complications Study and publication year Line et al. 19862
Number of tracheostomies
Years of study
153
1970–1985
38
Overall Early Late Overall complication complication complication mortality rate (%) (%) (%) (%) 12
26
Tracheostomyrelated death (%)
22
3 0.9
319
1976–1985
32
9
23
13.5
Carter and Benjamin 198330
164
1972–1981
25
5 (est)
19 (est)
10.9
Carr et al. 200131
142
1990–1999
77
14
63
15
0.7
Prescott and Vanlierde 19903
293
1980–1985
32 (est)
–
–
10
2
Carron et al. 200034
218
1988–1998
44
–
–
19
3.6
Midwinter et al. 200235
143
1979–1999
46
–
–
7
2.8
Wetmore et al. 19821
420
1971–1980
49
28.3
52.6
28
2 2.9
Crysdale et al.
19886
103
1980–1990
45.6
30
15.6
36
Corbett et al. 20077
116
1995–2004
45
11.2
44.8
19.6
1.8
Levi et al. 201636
264
2001–2011
32.6
7.6
25.0
22.0
n/a
Mahadevan et al. 200737
193
1987–2003
51
7.4
43.0
14.0
1.6
D’Souza et al. 201638
302
2000–2014
19.9
13.9
3.4
n/a
282
1968–2005
18.0
8.5
10.0
19.0
1
119
1990–2009
23
–
–
23
0.84
Ward et al.
199532
Ozmen et al.
200939
De Trey 201340 (est) = figure estimated from text.
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the tube tip, as a result of either use of suction catheters or direct trauma from the tube itself.
35
Pneumothorax, pneumomediastinum, surgical emphysema In the infant the domes of the pleura extend well into the neck. Inadvertently straying from the midline during dissection increases the risk of post-operative pneumothorax. This should be detected immediately post-operatively on a routine chest X-ray. Small pneumothoraces can be treated conservatively while larger ones will require chest drainage. If the tracheostomy wound is closed too tightly around the tube, or the dressings are too tightly applied to the neck skin, air may leak into the soft tissues of the neck (surgical emphysema) or track down into the mediastinum. In this instance the wound should be reopened to allow air to track back out through the tissues and a corrugated drain should be inserted. Pneumothorax is a rare complication in elective tracheostomy but commoner in emergency tracheostomy.41,42 Although it considered normal practice to perform a chest X-ray after all paediatric tracheostomies both to check tube position and to exclude pneumothorax, Genther and Thorne have suggested that the radiation risk from this may not be justified in an otherwise uncomplicated elective procedure.43
Bleeding Bleeding in the first few days after tracheostomy usually arises as a result of failure to achieve complete haemostasis during surgery. Commonly, bleeding may persist from the wound edge, anterior jugular veins or their tributaries, or the edge of the thyroid isthmus. If direct pressure is not adequate to control haemorrhage, the wound may be carefully packed with haemostatic gauze (Surgicel or Kaltostat ®). Re-exploration is rarely required. Later, minor bleeding may arise from areas of granulation around the tube. This can normally be controlled with cautery and ongoing medical treatment such as application of steroid and antibiotic ointment.
Tracheo-innominate fistula Tracheo-innominate artery fistula is a rare but lethal complication. There is no reliable estimate of the risk in children, which in adults has been estimated as 0.4%.44 In some children the innominate artery lies abnormally high in the neck (Figure35.16). If this finding is made at the time of surgery, the decision to perform a tracheostomy should be reconsidered. If there is no safe alternative, it is acceptable to place the tracheal incision higher than one would normally advocate and accept the risk of subglottic stenosis. An abnormally low tracheostomy will also increase the risk. A fistula into the artery forms as a result of erosion of the arterial wall by direct pressure from the tube.
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Figure 35.16 High innominate artery.
Although most bleeding coming from the tracheostomy tube itself is likely to represent granulation formation at the tube tip, in all cases the possibility of tracheal innominate artery fistula should be considered. The trachea should be examined by flexible bronchoscopy on the ward or by rigid endoscopy under anaesthesia. If the bleeding appears to arise from the anterior tracheal wall rather than tube-tip granulation, the wound must be reexplored immediately, ideally with the assistance of a cardiothoracic surgeon. It may be possible to tamponade the bleeding by using a cuffed tube temporarily and, if the laryngeal anatomy permits, endotracheal intubation should be established prior to exploration. The mortality from this complication remains very high.
Granulation The presence of the tracheostomy tube as a foreign body and the persistent presence of bacterial flora in the tract act as an ongoing stimulus for the formation of granulation tissue. Granulation may form at the skin edge of the tract (peristomal granulation) and inside the trachea itself, both on the anterior wall of the trachea above the tube (suprastomal granulation) and also at the tube tip lower in the trachea. Excessive or overexuberant suctioning can lead to more granulation through mucosal trauma and the tube itself can cause mucosal injury. This was generally more common with more rigid tube designs, particularly the silver45 and PVC designs. Granulation tissue can pose a number of problems: on the surface, granulations tend to discharge and bleed and, when severe, they can lead to difficulty in changing the tube. More modern tubes made from less reactive silicone are more flexible and softer and are felt to reduce the problem both at the skin and inside the trachea. Peristomal granulations can generally be controlled with topical steroid/antibiotic preparations. When more severe, they may be removed with bipolar diathermy. Caution needs to be exercised when using silver nitrate cautery as the silver nitrate solution can easily enter the
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406 Section 1: Paediatrics (a)
(b)
Figure 35.17 Obstructing suprastomal granuloma (a)before removal, and (b)1month after removal.
trachea itself, leading to irritation, coughing and mucosal injury. In the author’s unit, this practice is avoided. Suprastomal granulations are almost universal. In theory, if they are large, they will reduce the lumen of the supraglottic airway above the tube and increase the risks associated with accidental decannulation. Large suprastomal granulations can affect tube changing and make the use of a speaking valve impossible (Figure 35.17). Many authors advocate their removal at endoscopy on a regular basis,46 however others feel that they are an inevitable consequence of tracheostomy; Rosenfeld and Stool47 describe granulation in 80% of 265tracheostomies at bronchoscopy and advise against interval endoscopy to remove granulation tissue. At microlaryngoscopy, immediately prior to planned decannulation, all granulation should be removed to maximize airway patency. After decannulation and stomal closure, granulation generally resolves spontaneously.
REMOVAL OF SUPRASTOMAL GRANULATION If required, suprastomal granulations may be removed endoscopically using microlaryngeal instruments, a microdebrider using a Skimmer® or Tru-Cut ® blade or by KTP or CO2 laser. The KTP laser has the advantage of beam delivery using a flexible optic fibre in the relatively limited confines of the subglottis. Large granulation may be removed using a small sphenoid punch or a sinus surgery backbiting forceps inserted into the tracheostome from externally, under endoscopic guidance at mircrolaryngoscopy. Alternatively, if the child can be intubated normally, the ET tube pushes the granulation externally out of the stoma where it can be excised by sharp dissection.48
Suprastomal collapse Suprastomal collapse is distinct from suprastomal granulation although the two conditions often coexist. For reasons that are not completely understood, the anterior tracheal wall immediately superior to the stoma itself softens and prolapses into the lumen of the subglottic trachea (Figure35.18). This can significantly reduce the available airway, which in turn increases the risks associated with accidental decannulation and also leads to decannulation failure.
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Figure 35.18 Suprastomal collapse.
Minor collapse may be left, as it will tend to improve after decannulation. More significant collapse will require surgical treatment. The simplest of these involves excision and transfixion of the tracheostomy tract followed by endotracheal intubation for 2–3 days to support the trachea as the stoma heals.49 The author’s preference in mild to moderate suprastomal collapse is to explore the neck, identify the area of suprastomal collapse and pass a suture through the cartilage and around the strap muscles to elevate the collapsed section. This is carried out with excision and transfixion of the tracheostome skin. Sharp and Hartley50 describe ablation of the collapsed segment with KTP laser, and a number of authors have described supporting the collapsed segment with a cartilage graft in more severe collapse.51 The specific procedure will depend on the degree of collapse and the surgeon’s personal preference.
Speech development A tracheostomy may adversely affect the development of speech in children. Clearly, normal phonation will be impaired for the duration of a tracheostomy as insufficient subglottic pressure is generated, and small infants tend not
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to tolerate speaking valves well. A significant proportion of tracheostomized children have coexisting developmental abnormalities which can make it difficult to assess the relative effect of the tracheostomy. If decannulation occurs in the first 12–18months, before the time at which normal speech patterns begin to develop, the long-term outcome is favourable, 52 whereas longer-term tracheostomy may lead to longer-term impairment of speech function.
Effects on caregivers and family Caring for a child with a tracheostomy puts a significant strain on carers and families. The demands on the caregiver’s time may be exhausting and the extra effort required may prevent carers engaging in employment. As a result, mental health status53 and social-economic status54 are adversely affected in caregivers of children with tracheostomy. The degree of community nursing support that families currently receive in the UK is very variable and dependent on local healthcare policy and provision.
2. Bedhead documentation should be displayed at all times providing immediately visible information including tube size and length, and existing upper airway abnormalities (Figure35.20). 3. Emergency treatment algorithms should be provided for attending resuscitation teams (Figure35.21).
35
It is hoped that making this information and equipment visible to first responders and resuscitation teams will improve the safety of patients with tracheostomies and This patient has a
NEW TRACHEOSTOMY Patient label/Details Tracheostomy
Add tube specification including cuff or inner tube
___mmID,____mm distal length Suction
Indicate on diagram any sutures in place
___FG Catheter to Depth____cm
UPPER AIRWAY ABNORMALITY: Yes/No
Document laryngoscopy grade and notes on upper airway management or patient specific resuction plans
TRACHEOSTOMY SAFETY INITIATIVES The majority of life-threatening tracheostomy-specific complications (tube displacement and blockage) should be avoidable with correct tracheostomy care. Furthermore, if these complications are recognized quickly, they should be rapidly treatable. Children with tracheostomies are unusual and the medical and nursing skills required are not always immediately available. The UK National Tracheostomy Safety Project55 is a multidisciplinary collaboration devised to improve the management of child and adult patients with tracheostomies. The recommendations of the project include the following:
Due 1st tracheostomy change ___/___/___ (by ENT ONLY) In an Emergency: Call 2222 and request the Resuscitation Team & ENT surgeon Follow the Emergency Paediatric Tracheostomy Management Algorithm on reverse
Figure 35.20 Bedhead documentation for a new tracheostomy. Emergency Paediatric Tracheostomy Management SAFETY - STIMULATE - SHOUT FOR HELP - OXYGEN SAFE: Check safe area, Stimulate, and Shout for help, Call 2222 (hospital) or 999 (home) AIRWAY: Open child’s airway: head tilt/chin lift/pillow or towel under shoulders may help OXYGEN: Ensure high flow oxygen to the tracheostomy AND the face as soon as oxgen available Capnograph: Exhaled carbon dioxide waveform may indicate a patent airway (secondary responders) SUCTION TO ASSESS TRACHEOSTOMY PATENCY Remove any attachments: humidifiers (HME), speaking valve and change inner tube (if present) Inner tubes need re-inserting to connect to bagging circuits Can you pass a SUCTION catheter
1. An emergency minimum set of equipment should accompany a tracheostomy patient at all times, including spare tubes, suction catheters and dressings (Figure35.19).
YES
The tracheostomy tube is patent Perform tracheal suction Consider partial obstruction Consider tracheostomy tube change CONTINUE ASSESSMENT (ABCDE)
NO EMERGENCY TRACHEOSTOMY TUBE CHANGE Deflate cuff (if present). Reassess patency after any tube change 1st - same size tube, 2nd - small size tube *3rd small size tube sited over suction catheter to guide IF UNSUCESSFUL – REMOVE THE TUBE IS THE PATIENT BREATHING? - Look, Listen, and feel at the mouth and tracheostomy / stoma 5 RESCUE BREATHS USE TRACHEOSTOMY IF PATENT Patient Upper Airway - deliver breath to mouth Obstructed upper airway - deliver breath to tracheostomy/stoma CHECK FOR SIGNS OF LIFE? _ START CPR
15 compressions: 2 rescue breaths Ensure help or resuscitation team called
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RESPONDS: Continue oxygen, reassessment and stabilization Plan for definitive airway if tube change failure
Primary emergency oxygenation
Secondary emergency oxygenation
Standard ORAL airway manoeuvres may be appropriate. If so cover the stoma (swabs/hand). Use: Bag-valve face mask Oral or nasal airway adjuncts Supraglottic airway device e.g. Laryngeal Mask Airway (LMA)
Oral intubation may be appropriate with a downsized ET tube Uncuttable, advanced beyond stoma Prepare for difficult intubation ‘Difficult Airway’ Expert and Equipment**
Tracheostomy STOMA ventilation Paediatric face mask applied to stoma LMA applied to stoma
Figure 35.19 Box containing emergency equipment for a tracheostomy patient.
YES
Attempt intubation of stoma 3.0 ID tracheostomy tube / ETT ‘Difficult Airway’ Expert and Equipment** **EQUIPMENT: Fibreoptic scope, bougie, airway exchange catheter, Airway trolley
*3-smaller size tube sited over suction catheter to guide: to be used if out of hospital
Figure 35.21 Emergency algorithm for resuscitation.
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408 Section 1: Paediatrics
the outcome of complications. The Global Tracheostomy Collaborative formed in 2012 is a multidisciplinary and international organization which shares information and experience to disseminate best practices and improve outcomes. 56
DISCHARGE AND HOME CARE Discharge Getting home with a tracheostomy is a complex and timeconsuming process. Not all families will have sufficient support or resources at home to care for children with a tracheostomy. While in hospital, the caregivers must be educated to care for the day-to-day eventualities of tracheostomy, including tube changing, the recognition and initial treatment of complications and basic life-support training.57 Generally, two responsible adults are required for tube change; home tracheostomy care is difficult but not impossible for single carers. Children who are included in home-ventilation programmes tend to be more carefully supervised and a national protocol for discharge requirements is well established. 58 Non-ventilated tracheostomized children tend to have less structured support. In some areas, specific local organizations exist for the community nursing care of children with complex illnesses; in other areas home care is shared between hospital and primary care district nurses who have little specific training.
With sufficient support and education of teachers and coworkers, tracheostomized children without other significant disabilities can now attend mainstream schooling in the UK, although certain activities must be avoided, particularly swimming, water-based sports and contact sports.
Physical requirements Boxes 35.1 and 35.259 list the resources required for the child with a tracheostomy at home. In the author’s experience, the ease with which equipment and accessories can be obtained by caregivers is extremely variable in the
BOX 35.1 Requirements for children athome with tracheostomy Caregivers
Physical
Support
Generally two responsible adults
Home with adequate space, heating, electricity, telephone, access to transport
District nurse Community paediatrician Health visitor General practitioner Hospital-based support Specific community organizations where available
BOX 35.2 Equipment requirements for children at home with tracheostomy with and without home ventilation Most of the items need to be duplicated in a portable set. A battery-powered suction machine is essential and, if the child is oxygendependent, portable cylinders. Reprinted with permission.57
Requirements for children without ventilation
Additional requirements for children on home ventilation
Appropriate-sized tracheostomy tubes and one a size smaller
Two ventilators/CPAP machines, one of which is portable plus batteries and chargers for use outside the home
Neck ties to hold tube in place Scissors for emergency tube change to cut neck ties Lubricant for inserting tube Sterile saline and syringes for saline suction if required Tracheostomy dressing if required Gauze to clean stoma Appropriate-sized suction catheters Heat and moisture exchangers / Swedish noses Speaking valves
Disposable ventilator circuits Humidifier for ventilator circuit and water for inhalation to supply humidifier Dry circuit for ventilation when outside the home Heat and moisture exchanger for dry circuit Nebulizer CO2 monitor Rechargeable torch for use at night in the event of a power cut
Gloves – non-sterile for procedures and alcohol gel hand rub
Uninterrupted power supply – battery which powers ventilator in the event of a power cut
Plastic aprons and protective goggles
Suitable trolley in bedroom for equipment
Stethoscope
Adequate power sockets in house, particularly child’s bedroom
Two suction machines, one of which must be portable. Most children keep a third machine at school as spare
Trolley for children with a lot of equipment to transport equipment at nursery/school
Saturation monitor and possibly portable saturation monitor for use outside the home
Larger than normal buggy when baby/toddler to transport child and equipment
Ambu bag Oxygen: concentrator if used on a daily basis, cylinders if used less frequently, portable cylinders
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community as financial constraints in the delivery of care lead to reluctance to supply regular consumables. Prior to discharge, it is essential to communicate with the child’s general practitioner and other primary care workers and establish responsibility for provision of equipment.
TABLE 35.4 Great Ormond Street protocol for ward decannulation. Reprinted with permission47 Day
Procedure
1
Admission, downsize to 3.0 tube
2
DECANNULATION
Block for 12hours from 8 a.m. If successful, continue overnight for a further 12hours
3
Decannulate, occlude stoma with adhesive tape and dressing. Observe on the ward
Decision to decannulate
4
Observe off the ward
5
Discharge
Decannulation may be considered when the original condition requiring tracheostomy has improved but, to make decannulation successful, the child must be able to maintain an adequate airway without the tracheostomy in place. The majority of paediatric tracheostomies are short term, as the natural airway tends to improve with overall growth of the child or as a result of corrective surgery such as laryngotracheal reconstruction. The decision to decannulate is a complicated one which needs to be taken by a senior clinician after careful discussion with the parents and other relevant healthcare professionals. In paediatric otolaryngology practice it is generally considered essential to undertake endoscopic assessment of the airway prior to definitive decannulation.49 Suprastomal collapse and granulation lead to a considerable reduction in the lumen of the subglottic airway in children. Prescott60 suggested that this was the most common cause of decannulation failure in children, finding significant granulation in 50 and significant suprastomal collapse in 52 of 300tracheostomies. In addition, vocal cord mobility should be assessed at endoscopy. Granulation may be removed at the time of endoscopy using punch forceps or laser ablation. More significant suprastomal collapse requires KTP laser ablation or reconstructive surgery using cartilage grafting if the collapse is greater than 50%.50 If the subglottic airway is deemed satisfactory at endoscopy, the child may then proceed to formal decannulation in the next few days. One should also consider comorbidity, such as pulmonary, neurological disease, and the need for further surgery; if a child requires operations that may temporarily compromise the airway (e.g.mandibular advancement or cleft palate repair), decannulation should be deferred until these treatments are complete.
Decannulation technique Removal of a tracheostomy leads to a significant change in the physiology of the upper airway. The dead space is doubled and airway resistance is trebled. With a longstanding tracheostomy, the child may have no memory of mouth and nose breathing and the new sensation may be distressing (‘decannulation panic’).
STAGED DECANNULATION To effect these changes more gradually, decannulation protocols have been developed which involve tube
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35
‘downsizing’ and reversible capping (Table 35.4).61 To assess whether the child can breathe through the normal anatomical airway, the tube is capped off, either with a button, by taping or by inserting the obturator. However, the tracheostomy tube itself occupies a significant f raction of the tracheal lumen and, to try to reduce this effect, the tube size is reduced to a size 3.0 (or size 2.5 in children under 13months62), either in stages or in one step. Leaving the small tube in situ allows a certain amount of respiration if required and also prevents the tract from closing down should decannulation fail.
IMMEDIATE DECANNULATION The tracheostomy tube may occupy as much as half of the lumen of the trachea in an infant. If a child can tolerate this degree of obstruction, the airway after decannulation is likely to be more than sufficient. However, some children will not be able to tolerate this degree of tracheal obstruction. In this instance, it may be considered appropriate to simply remove the whole tube and occlude the stoma with a dressing. However, it is vital that this be carried out in a controlled setting (i.e.intensive care) where facilities for intubation are available should decannulation fail and reinsertion of the tracheostomy not be possible. If the nature of the child’s airway obstruction is such that oral intubation is not possible (e.g.some cases of Treacher Collins syndrome), then it is not safe to remove the tube in this manner, and decannulation should be delayed until the child is large enough to tolerate staged decannulation with capping off.
Persistent tracheocutaneous fistula After decannulation, a fistula may persist between the trachea and skin. This may be small and only lead to problems with discharge of tracheal secretions. A larger fistula may continue to function as an alternative airway. The incidence of tracheocutaneous fistula (TCF) is between 19% and 42% in various series. Certain factors lead to an increased risk: lower age at initial tracheostomy, duration of tracheostomy and, most importantly, persistent obstruction above the level of the stoma (e.g. inadequate reconstruction of subglottic stenosis). Although it is often felt likely that stomal maturation sutures lead to an increased risk of fistula formation, this has been disproven in larger recent series (n > 100). 36, 63
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There is no specific consensus as to how long a persistent TCF should be allowed to close before considering surgery. Most authors would allow 6–12months before formal closure is attempted.
Closure of TCF It is essential that the upper airway be reassessed prior to TCF closure to exclude persistent obstruction and tracheal granulation. Some children will still be using the fistula as an accessory airway if the original obstruction is not resolved. The persistence of squamous epithelium lining the tracheostome increases the likelihood of a persistent fistula. Surgically removing the skin lining the tract, or cauterizing the tract using diathermy, coblation or chemicals such as trichloroacetic acid may lead to scarring and satisfactory closure.64 This has become known as secondary closure or closure by secondary intention. More commonly, the tract of the stoma is dissected down to the level of the trachea and closed with transfixion sutures. This is referred to as primary closure. The strap muscles can then be reapposed to each other, which tends to fill in the cosmetic defect left after conventional decannulation. Lastly, the scarred skin surrounding the tracheostome can be excised in a fusiform incision with horizontal skin closure. This leads to a much improved cosmetic result. It is the author’s practice to leave a drain in the wound for 24hours in case of air leak from the closure, which might otherwise lead to surgical emphysema and pneumomediastinum. Because of the increased risks associated with primary closure, some authors advocate secondary closure as the preferred technique65 although a recent systematic review
found no difference in outcome or complication between the two techniques. 66
Revision of the tracheostomy scar Revision of the tracheostomy scar (Figure 35.22) usually involves a fusiform horizontal incision to excise the scarred skin of the tracheostome with wide undermining of surrounding skin to assist in primary closure. The strap muscles should be identified and reapposed in the midline to eliminate the defect in the contour of the neck skin. Deep dermal/platysmal sutures are used to support the wound and then the skin edges are closed meticulously. Flexing the neck makes it easier to close a large skin defect.
Figure 35.22 Scar following long-term tracheostomy.
BEST CLINICAL PRACTICE ✓✓ Endotracheal intubation rather than tracheostomy is the accepted mode of management for acute obstructing airway infection in children. ✓✓ Premature babies may be safely intubated for several weeks. Tracheostomy should normally be considered in older children after 2–3weeks of endotracheal intubation. ✓✓ Large skin incisions are generally not required in paediatric tracheostomy. A vertical skin incision is preferred to a horizontal one. ✓✓ Careful dissection using diathermy is advisable in small children to minimize blood loss. ✓✓ Palpate the trachea regularly throughout the dissection to ensure that you have not strayed from the midline. ✓✓ A simple vertical incision to open the trachea is associated with the lowest risk of long-term complications. Avoid removing any cartilaginous tissue in children. ✓✓ Stay sutures in the wall of the trachea on either side of the vertical incision facilitate reintroduction of the tube in the event of accidental decannulation before a mature track has developed.
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✓✓ Maturation sutures securing the edge of the skin incision to the tracheal wall lead to a safer and more secure tracheostomy in the initial post-operative period. ✓✓ In children who are difficult to intubate (e.g. retrognathia, laryngeal stenosis), it is safer to do the first tube change in the operating theatre in case surgical intervention is needed. ✓✓ The small diameter of the child’s airway makes suction and humidification especially important as secretions can quickly occlude the airway. ✓✓ Tube obstruction or accidental decannulation may be fatal. ✓✓ An ‘inner tube’ reduces the diameter of the lumen and is therefore not practical in small children. ✓✓ Fenestrated tubes are impractical in smaller children: the fenestration tends to become a focus for granulation and mucosal trauma on suctioning. ✓✓ Cuffed tubes are rarely needed in children. ✓✓ Speaking valves should be used under supervision and not while the child is asleep. ✓✓ The airway should be thoroughly assessed prior to decannulation.
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FUTURE RESEARCH ➤➤ Paediatric tracheostomy is now largely undertaken in specialist paediatric units. It is difficult for otolaryngologists in training to get experience in the management of children with tracheostomies outside these centres. This trend is likely to increase. ➤➤ Research in paediatric airway disorders is focused on conditions which give rise to the need for tracheostomy, such as laryngotracheal stenosis and major congenital anomalies.
➤➤ There is a need to improve training resources and support in primary care and community settings to enable families to look after tracheostomized children at home. The work of national and international organizations is helping to improve tracheostomy care.
35
KEY POINTS • Tracheostomies in children are performed in the main to relieve upper airway obstruction or to assist with mechanical ventilation. • A reduction in the incidence and change in the treatment of infections affecting the airway has led to a gradual change in the indications for tracheostomy. Many are now undertaken to allow prolonged ventilation in children with complex medical problems. • Tracheostomy in children is now an uncommon operation. • Tracheostomy technique in children has changed in the last decade. Vertical skin incisions and maturations sutures are now considered standard practice.
• Tracheostomy complications are more likely in children than in adults. Preterm infants are at particular risk.
• Specific medical and nursing skills are essential in postoperative care.
• Suprastomal granulations are almost universal in children. • Getting home with a tracheostomy is a complex and timeconsuming process. Not all families will have sufficient support or resources at home to care for a child with a tracheostomy.
REFERENCES 1. Wetmore RF, Handler SD, Potsic WP. Pediatric tracheostomy: Experience during the past decade. Ann Otol Rhinol Laryngol 1982; 91(6 Pt 1): 628–32. 2. Line WS, Hawkins DB, Kahlstrom EJ, etal. Tracheotomy in infants and young children: the changing perspective 1970–1985. Laryngoscope 1986; 96(5): 510–15. 3. Prescott CA, Vanlierde MJ. Tracheostomy in the management of laryngotracheobronchitis: Red Cross War Memorial Children’s Hospital experience, 1980–1985. SAfrMed J 1989; 77(2): 63–6. 4. Benjamin B, O’Reilly B. Acute epiglottitis in infants and children. Ann Otol Rhinol Laryngol 2017; 85(5 Pt1): 565–72. 5. Friedberg J, Morrison MD. Paediatric tracheotomy. Can J Otolaryngol 1974; 3(2): 147–55. 6. Crysdale WS, Feldman RI, Naito K. Tracheotomies: a 10-year experience in 319children. Ann Otol Rhinol Laryngol 1988; 97(5 Pt 1): 439–43. 7. Corbett HJ, Mann KS, Mitra I, et al. Tracheostomy: A 10-year experience from a UK pediatric surgical center. J Pediatr Surg 2007; 42(7):1251–4. 8. Lewis CW, Carron JD, Perkins JA, etal. Tracheotomy in pediatric patients: a national perspective. Arch Otolaryngol Head Neck Surg 2003; 129(5): 523–9. 9. Gergin O, Adil EA, Kawai K, et al. Indications of pediatric tracheostomy over the last 30years: Has anything changed? Int J Pediatr Otorhinolaryngol 2016; 87: 144–7. 10. Bajaj Y, Kapoor K, Ifeacho S, et al. Great Ormond Street Hospital treatment guidelines for use of propranolol in infantile isolated subglottic haemangioma. JLaryngol Otol 2013; 127(3): 295–8.
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11. Wiatrak BJ, Reilly JS, Seid AB, et al. Open surgical excision of subglottic hemangioma in children. Int J Pediatr Otorhinolaryngol 1996; 34(1–2): 191–206. 12. Siegel B, Mehta D. Open airway surgery for subglottic hemangioma in the era of propranolol: Is it still indicated? Int J Pediatr Otorhinolaryngol 2015; 79(7): 1124–7. 13. Cotton RT, Seid AB. Management of the extubation problem in the premature child: Anterior cricoid split as an alternative to tracheotomy. Ann Otol Rhinol Laryngol 1980; 89(6 Pt 1): 508–11. 14. Lusk RP, Gray S, Muntz HR. Single-stage laryngotracheal reconstruction. Arch Otolaryngol Head Neck Surg 1991; 117(2): 171–3. 15. Benjamin B. Intubation injuries. In: Endolaryngeal surgery. London: Martin Dunitz Ltd; 1998, pp.143–68. 16. Wallis C, Paton JY, Beaton S, Jardine E. Children on long-term ventilatory support: 10years of progress. Arch Dis Child 2011; 96(11): 998–1002. 17. Ruggiero FP, Carr MM. Infant tracheotomy: results of a survey regarding technique. Arch Otolaryngol Head Neck Surg 2008; 134(3): 263–7. 18. Park JY, Suskind DL, Prater D, et al. Maturation of the pediatric tracheostomy stoma: effect on complications. Ann Otol Rhinol Laryngol 1999; 108(12): 1115–19. 19. Jackson C. High tracheotomy and other errors: the chief causes of chronic laryngeal stenosis. Surg Gynecol Obstet 1921; 32: 392–8. 20. Koltai PJ. Starplasty: a new technique of pediatric tracheotomy. Arch Otolaryngol Head Neck Surg 1998; 124(10): 1105–11.
21. Fry TL, Jones RO, Fischer ND, Pillsbury HC. Comparisons of tracheostomy incisions in a pediatric model. Ann Otol Rhinol Laryngol 1985; 94(5 Pt 1): 450–3. 22. Bailey C, Kattwinkel J, Teja K, Buckley T. Shallow versus deep endotracheal suctioning in young rabbits: pathologic effects on the tracheobronchial wall. Pediatrics 1988; 82(5): 746–51. 23. Raymond SJ. Normal saline instillation before suctioning: helpful or harmful? Areview of the literature. Am J Crit Care 1995; 4(4): 267–71. 24. Sherman JM, Davis S, Albamonte-PetrickS, et al. Care of the child with a chronic tracheostomy. This official statement of the American Thoracic Society was adopted by the ATS Board of Directors, July 1999. Am J Respir Crit Care Med 2000; 161(1): 297–308. 25. Tweedie DJ, Skilbeck CJ, Cochrane LA, et al. Choosing a paediatric tracheostomy tube: an update on current practice. JLaryngol Otol 2008; 122(2): 161–9. 26. Dettelbach MA, Gross RD, Mahlmann J, Eibling DE. Effect of the Passy-Muir valve on aspiration in patients with tracheostomy. Head Neck 2017; 17(4): 297–302. 27. Buswell C, Powell J, Powell S. Paediatric tracheostomy speaking valves: our experience of forty-two children with an adapted Passy-Muir® speaking valve. Clin Otolaryngol 2017; 42(4): 941–4. 28. Donnelly MJ, Lacey PD, Maguire AJ. Atwenty year (1971–1990) review of tracheostomies in a major paediatric hospital. Int J Pediatr Otorhinolaryngol 1996; 35(1): 1–9. 29. Kenna MA, Reilly JS, Stool SE. Tracheotomy in the preterm infant. Ann Otol Rhinol Laryngol 1987; 96(1 Pt 1): 68–71.
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412 Section 1: Paediatrics 30. Carter P, Benjamin B. Ten-year review of pediatric tracheotomy. Ann Otol Rhinol Laryngol 1983; 92(4 Pt 1): 398–400. 31. Carr MM, Poje CP, Kingston L, et al. Complications in pediatric tracheostomies. Laryngoscope 2001; 111(11 Pt 1): 1925–8. 32. Ward RF, Jones J, Carew JF. Current trends in pediatric tracheotomy. Int J Pediatr Otorhinolaryngol 1995; 32(3): 233–9. 33. Gianoli GJ, Miller RH, Guarisco JL. Tracheotomy in the first year of life. Ann Otol Rhinol Laryngol 1990; 99(11): 896–901. 34. Carron JD, Derkay CS, Strope GL, et al. Pediatric tracheotomies: changing indications and outcomes. Laryngoscope 2000; 110(7): 1099–104. 35. Midwinter KI, Carrie S, Bull PD. Paediatric tracheostomy: Sheffield experience 1979–1999. J Laryngol Otol 2002; 116(7): 532–5. 36. Levi JR, Topf MC, Mostovych NK, etal. Stomal maturation does not increase the rate of tracheocutaneous fistulas. Laryngoscope 2016; 126(10): 2395–8. 37. Mahadevan M, Barber C, Salkeld L, etal. Pediatric tracheotomy: 17 year review. Int J Pediatr Otorhinolaryngol 2007; 71: 1829–35. 38. D’Souza JN, Levi RJ, Park D, Shah UK. Complications following pediatric tracheotomy. JAMA Otolaryngol Head Neck Surg 2016; 142(5): 484–8. 39. Ozmen S, Ozmen OA, Unal OF. Pediatric tracheostomies: a 37-year experience in 282 children. Int J Pediatr Otorhinolaryngol 2009; 73(7): 959–61. 40. de Trey L, Niedermann E, Ghelfi D, et al. Pediatric tracheotomy: a 30-year experience. J Pediatr Surg 2013; 48(7): 1470–05. 41. Hawkins DB, Williams EH. Tracheostomy in infants and young children. Laryngoscope 1976; 86(3): 331–40. 42. Rabuzzi DD, Reed GF. Intrathoracic complications following tracheotomy in children. Laryngoscope 1971; 81(6): 939–46. 43. Genther DJ, Thorne MC. Utility of routine postoperative chest radiography in pediatric tracheostomy. Int J Pediatr Otorhinolaryngol 2010; 74(12): 1397–400.
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44. Cooper JD. Trachea-innominate artery fistula: successful management of 3consecutive patients. Ann Thorac Surg 1977; 24(5): 439–47. 45. Quiney RE, Spencer MG, Bailey CM, etal. Management of subglottic stenosis: experience from two centres. Arch Dis Child 1986; 61(7): 686–90. 46. Richter A, Chen DW, Ongkasuwan J. Surveillance direct laryngoscopy and bronchoscopy in children with tracheostomies. Laryngoscope 2015; 125(10): 2393–7. 47. Rosenfeld RM, Stool SE. Should granulomas be excised in children with long-term tracheotomy? Arch Otolaryngol Head Neck Surg 1992; 118(12): 1323–7. 48. Ismail-Koch H, Vilarino-Varela J, HarkerH, Hore I. The use of endotracheal tubes in the excision of troublesome paediatric suprastomal granulomas. Clin Otolaryngol 2011; 36(4): 403–4. 49. Benjamin B, Curley JW. Infant tracheotomy: endoscopy and decannulation. Int J Pediatr Otorhinolaryngol 1990; 20(2): 113–21. 50. Sharp HR, Hartley BEJ. KTP laser treatment of suprastomal obstruction prior to decannulation in paediatric tracheostomy. Int J Pediatr Otorhinolaryngol 2002; 66(2): 125–30. 51. Froehlich P, Seid AB, Kearns DB, et al. Use of costal cartilage graft as external stent for repair of major suprastomal collapse complicating pediatric tracheotomy. Laryngoscope 1995; 105(7 Pt 1): 774–5. 52. Jiang D, Morrison GAJ. The influence of long-term tracheostomy on speech and language development in children. Int J Pediatr Otorhinolaryngol 2003; 67 Suppl1: S217–20. 53. Hartnick CJ, Bissell C, Parsons SK, etal. The impact of pediatric tracheotomy on parental caregiver burden and health status. Arch Otolaryngol Neck Surg 2003; 129(10): 1065. 54. Hopkins C, Whetstone S, Foster T, et al. The impact of paediatric tracheostomy on both patient and parent. Int J Pediatr Otorhinolaryngol 2009; 73(1): 15–20. 55. National Tracheostomy Safety Project. Available from: http://www.tracheostomy. org.uk/Templates/Home.html. 56. Global Tracheostomy Collaborative. Available from: http://globaltrach.org/.
57. Cooke J. Appendix 4: Carer Competencies for Tracheostomy Care at Home. Great Ormond Street Hospital for Children NHSTrust. Tracheostomy: care and management review. 2009. Available from: http://www.gosh.nhs.uk/health-professionals/clinical-guidelines/tracheostomy-careand-management-review. 58. Jardine E, Wallis C. Core guidelines for the discharge home of the child on long-term assisted ventilation in the United Kingdom. UK Working Party on Paediatric Long Term Ventilation. Thorax 1998; 53(9): 762–7. 59. Longdon J. Personal communication. 2005. 60. Prescott CA. Peristomal complications of paediatric tracheostomy. Int J Pediatr Otorhinolaryngol 1992; 23(2): 141–9. 61. Waddell A, Appleford R, Dunning C, etal. The Great Ormond Street protocol for ward decannulation of children with tracheostomy: increasing safety and decreasing cost. Int J Pediatr Otorhinolaryngol 1997; 39(2): 111–18. 62. Kubba H, Cooke J, Hartley B. Can wedevelop a protocol for the safe decannulation of tracheostomies in children less than 18months old? Int J Pediatr Otorhinolaryngol 2004; 68(7): 935–7. 63. Colman KL, Mandell DL, Simons JP. Impact of stoma maturation on pediatric tracheostomy-related complications. Arch Otolaryngol Head Neck Surg 2010; 136(5): 471–4. 64. Stern Y, Cosenza M, Walner DL, CottonRT. Management of persistent tracheocutaneous fistula in the pediatric age group. Ann Otol Rhinol Laryngol 1999; 108(9): 880–3. 65. Osborn AJ, de Alarcon A, Hart CK, et al. Tracheocutaneous fistula closure in the pediatric population: should secondary closure be the standard of care? Otolaryngol Head Neck Surg 2013; 149(5): 766–71. 66. Lewis S, Arjomandi H, Rosenfeld R. Systematic review of surgery for persistent pediatric tracheocutaneous fistula. Laryngoscope 2017; 127(1): 241–6.
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36 CHAPTER
PERINATAL AIRWAY MANAGEMENT Pensée Wu, May M.C. Yaneza, Haytham Kubba, W. Andrew Clement, and Alan D. Cameron
Introduction.................................................................................. 413 Prenatal and fetal imaging............................................................ 413 Epidemiology................................................................................ 414 Interventional delivery................................................................... 415 Pre-operative planning.................................................................. 416
Outcomes..................................................................................... 419 Fetal therapy................................................................................. 419 Conclusion.................................................................................... 419 References...................................................................................420
SEARCH STRATEGY Data in this chapter may be updated by a PubMed search using the term ex utero intrapartum. Reference lists were reviewed for furtherarticles.
INTRODUCTION Neonates with potentially fatal airway obstruction can have good outcomes if the abnormality is recognized prenatally and the pregnancy managed by a team with experience in interventional delivery. Prenatal and fetal imaging has improved, which allows for earlier and more detailed analysis of the abnormality and planning of the delivery. Advances in anaesthetic techniques and intervention at delivery improve outcomes and reduce morbidity and mortality in this group of patients. This chapter summarizes developments in imaging, anaesthesia and delivery techniques for neonates with airway obstruction.
PRENATAL AND FETAL IMAGING A potentially fatal airway obstruction in the fetus can be recognized at prenatal imaging, often initially identified at the routine 20-week ultrasound as part of the fetal anomaly screening programme.1 Once a neck anomaly has been established, the remainder of the fetal survey is carefully conducted to detect the presence of any other abnormalities. Further information may be gathered via three-dimensional (3D) and four-dimensional (4D) ultrasound or magnetic resonance imaging (MRI), such as fetal
swallowing, lung function and neck mass mapping, including the presence of calcifications. 2 Ultrasound modalities are more widely available than fetal MRI, which is currently offered in tertiary centres only. A detailed plan for delivery can then be made as well as preparation for postnatal management. 3 A fetal neck mass may also present via a fetal growth scan requested due to suspected macrosomic (excessive birth weight) fetus and polyhydramnios (excess amniotic fluid in the amniotic sac) is discovered instead. A large neck lesion may compress the oesophagus and impede fetal swallowing, therefore leading to increased liquor volume, uterine irritability, and threatened preterm labour. After diagnosis, the pregnancy is closely monitored with regular sonograms, in order to detect any development or worsening of fetal hydrops (accumulation of fetal fluid) – a sign of cardiac failure. Elective delivery with ex utero intrapartum treatment (EXIT) is planned if there are markers of hydrops or when the fetus is deemed mature.4
Ultrasound Ultrasound is the mainstay of prenatal imaging as it is deemed safe for the fetus and the mother with prudent use. 3D scanning provides a reconstructed 3D volume
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image of the fetus, whereas 4D ultrasound allows a 3D picture in real time showing fetal movements. In addition to antenatal diagnosis of fetal neck anomalies, pre-operative ultrasound can be used to determine fetal position, mass location and placental site prior to an EXIT procedure. 2 In the case of a large cystic neck mass which may contribute to a difficult and traumatic delivery of the fetal head, ultrasound-guided percutaneous aspiration of the cystic mass can be performed prior to the EXIT procedure.
MRI An adjunct tool to ultrasound is MRI (Figure 36.1). It has superior soft-tissue delineation and anatomical detail (i.e. assessment of tracheal distortion, compression and position). It has better differentiation between solid and cystic structures. 2 Furthermore, when using MRI, there is less adverse influence of raised body mass index, poor fetal positioning and oligohydramnios compared with ultrasound. As measurements can be made of fetal facial features and skeletal angles, syndromes and intracranial anomalies may be more easily identified on MRI. 5 Static images of the whole fetus can be examined at MRI, therefore a more global view of the mass can be obtained and its spatial relationship to the airway more easily appreciated, in particular using the multiplanar function.6 It has been suggested that ultrafast MRI without fetal sedation can provide a more comprehensive view regarding the size and position of the lesion.7 In 50% of cases the MRI finding was different from the ultrasound diagnosis, however the MRI diagnosis was in agreement with final histology in 73% of cases.8
EPIDEMIOLOGY The most common fetal neck lesions causing airway obstruction are lymphatic malformations (formerly cystic hygroma) and teratoma. Other neck masses include haemangioma, branchial cleft cyst, cervical thymic cysts, fetal goitre, sarcoma, neuroblastoma, and kaposiform haemangioendotheliomas (Box36.1).9,10 BOX 36.1 Causes of congenital airway obstruction Internal External compression blockage Lymphatic malformation Cervical teratoma Brachial cleft cyst Cervical thymic cyst Thyroid goitre Ectopic thyroid Sarcoma Neuroblastoma Dermoid cyst Granular cell tumour Vascular ring
Laryngeal web Laryngeal stenosis Laryngeal cyst Tracheal stenosis Epignathus Choristoma Glioma Encephalocoele Choristoma Haemangiomata
Developmental Laryngeal atresia Tracheal atresia Micrognathia
Cervical lymphatic malformations are typically located in the anterior and posterior triangles of the neck and appear sonographically as fluid-filled cysts with fine septae. Conversely, cervical teratomas are unilateral and asymmetrically located. They are characterized as complex masses with mainly solid components and well-defined edges, often with vascular spaces and calcifications.11 Preterm labour from polyhydramnios due to local mass effect causing obstruction in the tracheo-oesophageal complex which leads to impaired fetal swallowing is more common in teratomas (up to 40%) than lymphatic malformations.12 [Level 1 evidence]
Extrinsic compression of the fetal airway LYMPHATIC MALFORMATION
Figure 36.1 Fetal MRI. A large lymphatic malformation (*) is demonstrated.
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The incidence of lymphatic malformation is 1 in 6000 to 1 in 16 000 live births. This congenital malformation of the lymphatic system is thought to be due to failure of the jugular lymph sacs to join the lymphatic system. As well as an association with chromosomal abnormalities in 60% of cases, in particular Turner syndrome and Down syndrome, they are also linked to underlying genetic conditions, such as Noonan syndrome and multiple pterygium syndrome. 2 Antenatal care therefore involves detection of other fetal structural anomalies, especially cardiac abnormalities, and the offer of prenatal karyotyping. There is a perinatal mortality rate of over 80% if fetal hydrops is detected. Postnatal intubation may be particularly difficult due to obstruction of the pharynx and larynx from very large lesions. Prognostic scores
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such as de Serres staging or Cologne Disease Score have been used to predict long-term outcome.13,14
CERVICAL TERATOMA Teratomas contain tissue from all three germinal layers (ectoderm, mesoderm and endoderm). Cervical teratomas represent 3–5% of all teratomas and have an incidence of 1 in 35 000 to 1 in 20 000 live births.15 Cervical teratomas cause airway obstruction via both compressive and distortive factors. A presumed prenatal diagnosis of teratoma is an indication for an interventional birth procedure. It is associated with lung hypoplasia and a higher mortality rate.16 Maternal serum alpha fetoprotein (AFP) levels may be very high as these tumours contain neural tissues as the predominant histological component. Only 200 degrees/s) is not sensed by the SCC after approximately 30seconds. Only the acceleration or deceleration phase is detected. During constant speed rotations, elastic forces pull the cupula again into its centre position. However, after sudden cessation of the rotation (e.g.with a deceleration of 400 degrees/s2), the endolymph continues to move within the SCC and a nystagmus in the opposite direction becomes evident for another 20–30seconds. The subject has the impression of being spun around in the opposite direction. After a longer time the nystagmus fades away and may reappear again in the initial direction (post-rotatory nystagmus). Based on mathematical principles and physiological measurements, the time constant during which the cupula repositions itself is determined as approximately 5–7seconds, which implies that the cupula is almost entirely restored to its central position after 12 seconds. This gradual decrease in cupular deviation results in a decrease in firing rate of the vestibular neurons to the brain, suggesting erroneously a progressively lower head velocity. The fact that the nystagmus outlasts this mechanical phenomenon is due to the so-called ‘velocity storage mechanism’ (VSM)9 which is a neurophysiological process, taking place mainly in the nucleus prepositus hypoglossus and the adjacent medial vestibular nucleus. The VSM serves to maintain the VOR at low frequencies (below about 0.02 Hz). The VSM uses principally the peripheral labyrinthine signal and by a process of integration, in the mathematical sense, increases the frequency
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response of the VOR, by prolonging the time constant (originally 7 seconds) of the decay of the vestibular nystagmus to approximately 20 seconds. This circuitry is therefore a mechanism that stores neural activity related to head and eye velocity and discharges it over its own time course. In conditions where visual information of the surrounding rotating world is present during sustained rotations, the optokinetic reflex comes into play and, although slower in response, this takes over the fading performance of the vestibular system. The transition between both reflexes is facilitated by the VSM. Indeed, the VSM not only regulates the dynamics of the VOR but also accounts for optokinetic (after) nystagmus (OKN), i.e. the reflexive eye movements that are induced by a moving background (e.g.while looking outside the window of a moving train). The VSM coordinates these two oculomotor responses that are related to self-motion. Whereas the VOR shows high-frequency behaviour, the OKN reflects low-frequency characteristics. Matching of their time constants in the brain assures smooth transition from the quick-onset vestibular response into the slow-onset optokinetic response. Together, the VOR initially and the OKN subsequently, matched and finetuned by the VSM, ensure gaze stabilization. Interestingly, the time constant of velocity storage is influenced by static inputs from the otoliths. It can be reduced considerably when the head is suddenly tilted (tilt dumping) just after the velocity step, and it is shorter during off-vertical axis rotations.10–11
Vestibulo-ocular reflex The peripheral sensors transmit motion to the brain through frequency encoding. Similar to FM radios, the brain continually receives ‘frequency-modulated’ signals. A normal resting discharge rate of approximately 90 spikes per second (recorded in the squirrel monkey vestibular nerve)12 is modulated such that increase of this rate corresponds with an excitation and decrease with inhibition. The left and right SCCs are oriented in the head such that any movement always induces an antagonistic response in both canals. For example, consider horizontal head movements occurring in the yaw plane. During rightward head rotation, the endolymph in the lateral SCCs on both sides lags behind, bending the cupula of the right SCC towards the vestibulum (ampullo- or utriculopetal) whereas simultaneously the cupula of the left SCC is deflected away from the vestibulum (ampulloor utriculofugal). A key difference is the polarization of the hair cells. Indeed, since the implantation of the hair cells is opposite for both right and left canals as a mirror image, the deflection on the ‘leading’ right side induces a movement of the stereocilia towards the kinocilium, whereas on the opposite ‘following’ ear the movement of the stereocilia is away from the kinocilium. Consequently, the activity of right lateral SCC primary afferent neurons increases, while at the same time the activity of left lateral SCC primary neurons decreases
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with respect to the normal resting discharge rate. This is called the push–pull principle of the VOR. The right medial vestibular nucleus in the brainstem receives an increased input from the right lateral SCC primary neurons (no crossing), which excites the activity of type1 position vestibular pause (PVP) secondary vestibular neurons. These excitatory neurons drive the leftward compensatory eye movements of the VOR, to ensure gaze stabilization. However, commissural disinhibition from the left lateral SCC primary neurons also contributes to the excitation of the PVP neurons. Therefore, both the excitation of the right SCC and the disinhibition of the left SCC are needed for an optimal VOR. In first approximation, the VOR process is a three-arc neuron reflex (firstorder vestibular neurons, second-order vestibular neurons and oculomotor plant neurons) as depicted in Figure49.6. The simplified principle of VOR generation (yaw-plane rotation and horizontal SCC) is as follows: 1. During head rest, hair cells in both SCCs have a resting discharge rate of 90spikes per second. 2. Head rotation is to the right. 3. Endolymph fluid lags behind, i.e.moves relative to the left within each SCC due to inertia. 4. The cupula bends to the left in each canal. 5. In the (leading) right SCC the stereocilia bend towards the kinocilium. 6. In the (following) left SCC the stereocilia bend away from the kinocilium. 7. The discharge rate increases in the leading right ear (e.g.from 90 to 300spikes per second). 8. The discharge rate decreases in the following left ear (e.g.from 90 to 20spikes per second). 9. The vestibular nuclei interpret the difference in discharge rates between left and right SCCs as movement to the right, and therefore trigger the oculomotor nuclei to drive the eyes to the left to maintain gaze stabilization. Similar to the horizontal canal, a push–pull principle also governs the vertical canal excitatory and inhibitory functions. For example, the left anterior canal is excited while the right posterior canal is inhibited for the same movement. Also, the vertical canals are direction-sensitive, but at this stage ampullopetal movement results in a decreased firing rate. Thus, the ampullar deflection in the vertical canals, corresponding to excitation, is in the opposite direction to the horizontal SCC. For the horizontal canal, excitation is elicited upon ampullopetal endolymph movement (towards the vestibulum–utricle) whereas for both the vertical posterior and anterior SCC ampullopetal flow is inhibitory. The horizontal canal is involved in pitch movements to only a small extent. The inclination of the vertical canals is more than 90° to the horizontal so that horizontal movements are always detected also by the vertical canals. However, given the antagonistic response of the anterior and posterior SCC on each side, horizontal head movements produce primarily horizontal eye movements.
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49: PHYSIOLOGY OF EQUILIBRIUM 599 Eye movement to the left
VI
Start acceleration
H
49
III
CW ACC K
K
H
Start acceleration
E E
Figure 49.6 Three-arc neuron representation of the VOR. Upon head rotation to the right (CW ACC, clockwise acceleration), the hair cells on the ‘leading ear’ side are excited and increase their discharge rate, whereas the hair cells on the following ear are inhibited, thereby decreasing the discharge rate. The vestibular nuclei encode the increased discharge rate and redirect the excitation to the ipsilateral ocumolotor nuclei to contract the medial rectus of the right eye, while the contralateral abducens nucleus is triggered generating a contraction of the contralateral lateral rectus. Consequently, the eyes are driven to the left to compensate for the head movement to the right. This is the essence of the VOR. However, only the excitatory pathway is represented here; the actual VOR is much more complex. (E, endolymph; H, hair cell; K, kinocilium; III, oculomotor nucleus; VI, abducens nucleus)
The SCCs and the otolith organs provide the inputs for the VOR. Horizontal VOR compensates for both horizontal rotation and horizontal translation. The former is due to the canal system where the latter due to the utricular system. It is therefore more convenient to use the angular VOR (aVOR) and linear VOR (lVOR). A third type of VOR, the ocular counter-rolling, is provided by the otoliths as a response to, for example, tilting of the head with respect to gravity or a stimulus that results in a shift of the gravito-inertial acceleration (the sum of an acceleration in any direction and gravity). There are three types of rotationally induced eye movements: horizontal, vertical and torsional. Each of the six pairs of eye muscles must be controlled to produce the desired response. The vertical SCCs and the saccule are responsible for controlling vertical eye movements, whereas the horizontal canals and the utricle control horizontal eye movements. Torsional eye movements are controlled by the vertical SCCs and the utricle. Stimulation of a single canal results in eye movements that lie in the plane of the canals. To understand the generation of the different eye movements, it is necessary to analyze the stimulation of individual canals and their effect on the eye muscles. Table49.1 gives an overview of the active and passive eye muscles for each stimulated canal.
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TABLE 49.1 Schematic canal stimulation and concomitant eye muscle contraction and relaxation Canal stimulation
Contracted eye muscle
Lateral SCC
Ipsimedial rectus
Ipsilateral rectus
Contralateral rectus
Contramedial rectus
Anterior SCC
Posterior SCC
Relaxed eye muscle
Ipsisuperior rectus
Ipsi-inferior rectus
Contrainferior oblique
Contrasuperior oblique
Ipsisuperior oblique
Ipsi-inferior oblique
Contrainferior rectus
Contrasuperior rectus
Figures49.7 to 49.11 represent the effects of single or multiple canal stimulation on the eye muscles and consequently which type of compensatory eye movement is generated. Figure 49.7 and Figure 49.8 illustrate the stimulation of the anterior and posterior canals. Every stimulation in whichever direction always evokes the push–pull principle. When the head is tilted sidewards (Figure49.9), a torsional nystagmus is generated, as both posterior and anterior canals are stimulated. When the head is pitched forward (Figure 49.10), both left and right anterior canals are
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600 Section 2: The Ear Right posterior SCC Left posterior SCC Right anterior SCC Left horizontal SCC Right horizontal SCC Left anterior SCC
SO
SO
SR
LR
MR
SR
MR
LR
IR IO
IO
Right eye
Left eye
Figure 49.7 Stimulation of the right anterior SCC while the left posterior canal is inhibited occurs d uring a head movement in the right anterior—left posterior (RALP) SCC plane, i.e.turn the head 45° to the right and move the head downward in that plane. This generates a counterclockwise movement of the eyes (seen from the examiner’s view), together with an elevation. The right superior rectus (SR) muscle and the left inferior oblique (IO) muscle are contracted. Theright inferior rectus (IR) muscle and the left superior (SO) muscle are inhibited. +,excitation; -,inhibition; LR,lateral rectus muscle; MR,medial rectus muscle. The black arrows show the direction of movement of the head. Right posterior SCC Left posterior SCC Right anterior SCC
Left horizontal SCC
Right horizontal SCC
Left anterior SCC
SO
SR
SO
MR
LR
SR
MR
LR
IR
IR IO Right eye
Left eye
Figure 49.8 Stimulation of the right posterior SCC while the left anterior canal is inhibited occurs during a head movement in the left anterior–right posterior (LARP) SCC plane, i.e.turn the head 45° to the left and move the head upward in that plane. This generates a counterclockwise movement of the eyes (seen from the examiner’s view), together with a depression of the eye. Theright superior oblique (SO) muscle and left inferior rectus (IR) muscle are contracting, while the right inferior oblique (IO) muscle and the left superior rectus (SR) muscle are relaxing. +, excitation; -, inhibition; LR,lateral rectus muscle; MR,medial rectus muscle. The black arrows show the direction of movement of the head.
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49: PHYSIOLOGY OF EQUILIBRIUM 601 Right posterior SCC Left posterior SCC Right anterior SCC
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Left horizontal SCC
Right horizontal SCC
Left anterior SCC
SO
SR
LR
SR
SO
MR
LR
MR
IR
IR IO
Right eye
Left eye
Figure 49.9 Stimulation of the right posterior and right anterior SCCs while the left anterior and left posterior canals are inhibited occurs during a rightward sideways tilting of the head towards the shoulder. This generates a counterclockwise movement of the eyes (seen from the examiner’s view). The right superior rectus (SR) muscle and superior oblique (SO) muscle, as well as the left inferior oblique (IO) muscle and inferior rectus (SR) muscle, are contracting while the right inferior rectus (IR) muscle and inferior oblique (IO) muscle and the left superior rectus (SR) muscle and superior oblique (SO) muscle are relaxing. The elevation and depression cancel out and a pure counterclockwise torsional nystagmus is generated. This suggests why during a unilateral lesion, such as a vestibular neuritis that affects the whole peripheral vestibular system, there is never a vertical nystagmus, but only a torsional and a horizontal (not depicted here). Spontaneous vertical nystagmus is therefore almost always due to a central neurological pathology. The black arrows show the direction of movement of the head. LR,lateral rectus muscle; MR,medial rectus muscle. Right posterior SCC Left posterior SCC
Right anterior SCC
Left horizontal SCC
Right horizontal SCC Left anterior SCC
SO
SR
LR
SO
MR
SR
MR
LR
IR
IR IO
Right eye
IO Left eye
Figure 49.10 Stimulation of the right anterior and left anterior SCCs while the right posterior and left posterior canals are inhibited occurs during a forward bending of the head. This generates an elevation of the eyes or a downbeat nystagmus, depending on the amplitude and speed of bending the head. The right superior rectus (SR) muscle and inferior oblique (IO) muscle, as well as the left inferior oblique (IO) muscle and superior rectus (SR) muscle, are contracting while the right inferior rectus (IR) muscle and superior oblique (SO) muscle and the left superior oblique (SO) muscle and inferior rectus (IR) muscle are relaxing. Given the activity of these muscles, any torsional components are cancelled out. The black arrows show the direction of movement of the head. LR,lateral rectus muscle; MR,medial rectus muscle.
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602 Section 2: The Ear Right posterior SCC
Right anterior SCC Left posterior SCC Left horizontal SCC Right horizontal SCC
Left anterior SCC
SO
SR
LR
SO
MR
SR
MR
LR
IR
IR IO
Right eye
IO Left eye
Figure 49.11 Stimulation of the right posterior and left posterior SCCs while the right anterior and left anterior canals are inhibited occurs during a backward bending of the head. This generates a depression of the eyes or an upbeat nystagmus, depending on the amplitude and speed of bending the head backwards. The right inferior rectus (IR) muscle and superior oblique (SO) muscle, as well as the left superior oblique (SO) muscle and inferior rectus (IR) muscle, are contracting while the right superior rectus (SR) muscle and inferior oblique (IO) muscle and the left superior rectus (SR) muscle and inferior oblique (IO) muscle are relaxing. Given the activity of these muscles, any torsional components are cancelled out and a pure vertical nystagmus remains. The black arrows show the direction of movement of the head. LR,lateral rectus muscle; MR,medial rectus muscle.
stimulated, whereas both posterior canals are inhibited. This produces an upward eye movement. Each anterior canal also produces an ocular counter-rolling movement, but as both are in different directions, the counter-rolling is cancelled out. The same applies when the head is tilted backwards (Figure49.11), but now both posterior canals are stimulated producing a downward compensatory eye movement. For the horizontal canal stimulation, a more detailed neurological pathway is explained later in this chapter.
Nystagmus The eye response to a head rotation consists of a combination of a slow phase or drift until the eye reaches the edge of the outer canthus, and a fast phase to reset the eye in its initial position. This pattern repeats itself as long as the head rotation lasts. This saw-tooth pattern is called nystagmus (Figure49.12). The direction of the nystagmus is defined by the fast reset phase, since that is easiest identified by the clinician. The slow phase, however, represents the actual vestibular output and is quantified. An upward excursion, by convention on electronystagmography or video-nystagmography, represents eye deviation to the right. If the slope of the sawtooth is upward to the right, i.e.a positive slope, this corresponds to a slow drift of the eye to the right, followed by a quick leftward reset s accade, as represented by a steep downward trace. Thisisdefined
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Figure 49.12 Typical pattern of nystagmus to the left. This trace represents the eye movement amplitude in degrees (vertical) as a function of time in seconds (horizontal). Upward deflection denotes rightward eye movement. The trace indicates a series of slow eye deviations to the right (upward) followed by fast beat to the left (downward). This typical behaviour of slow movement followed by a fast reset movement is called nystagmus. Although the slow phase is the vestibular partition of the movement, by convention the nystagmus is called after the direction of the fast beat, since clinically this is more easily discernible. The slope of the slow component represents the velocity that characterizes the VOR.
as a left nystagmus. It is quantified by measurement of the slope of the upward trace, which indicates the speed of the eye movement (degrees/s).
NYSTAGMUS INDUCED BY ACUTE UNILATERAL DEAFFERENTIATION The push–pull principle is very convenient to explain the origin of the nystagmus observed during acute peripheral lesions. In the case of an acute unilateral vestibular
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deafferentiation (uVD) on, for example, the right side, all three right canals and the otoliths cease spontaneous activity (from 90 spikes per second to zero), while the spontaneous activity of the left SCC remains at 90spikes per second. Although the head is not moving, the brain perceives an apparent imbalance (R: 0spikes/second versus L: 90spikes/second) similar to, for example, when the left system is triggered during head movements towards the left. This tonic imbalance drives the vestibular and, consecutively, the ocular motor nuclei to move the eyes towards the right, as would be appropriate for a head movement towards the healthy side (left). The brain erroneously interprets the abruptly decreased or absent firing rate of the ipsilateral-affected peripheral system as a relative increase of the contralateral system, resulting in a nystagmus that beats away from the acute lesion. Additionally, the combination of muscle contraction and relaxation generates not only a pure horizontal nystagmus but also a torsional nystagmus. Indeed, when all the canals are lesioned on the right side, this is interpreted by the brain as a sudden excitation of the contralateral vestibular system, which generates a contraction of the left eye medial rectus, superior rectus and superior oblique muscles. Eye movements may be considered as additive and so, although both superior muscles are on the upper surface of the eye, they have an opposite effect on the eye movement, cancelling any vertical movement. Consider the right eye, activation of the superior rectus results in an elevation, adduction and intorsion, whereas the superior oblique generates a depression, abduction and again an intorsion. When all muscles contract simultaneously, as is the case upon stimulation of all three canals on the same side, the elevation and depression cancel out, as does the abduction and adduction. The torsional movement remains, as well as a horizontal nystagmus due to the contraction of the medial rectus of the left eye (and the lateral rectus of the right eye). For a left uVD, the torsional nystagmus is counterclockwise (CCW) (from the examiner’s perspective) in combination with a horizontal nystagmus beating to the right, whereas a clockwise (CW) and leftward nystagmus is seen for a right-sided uVD. A torsional and horizontal nystagmus is the clinical sign indicating an acute whole labyrinthine deficiency. Conversely, a pure vertical nystagmus is very unlikely to be produced by an acute labyrinthine lesion, and the clinician should in that case firstly consider a central neurological lesion rather than a peripheral vestibular lesion. The sudden onset of this nystagmus is associated with vertigo and disorientation, since the absence of real movement constitutes a conflict between vision, proprioception and the vestibular system.
Vestibulocollic and vestibulospinal reflexes When they are walking, pigeons move their heads backwards and forwards. This head movement is actually a head nystagmus, meant for gaze stabilization and
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controlled in an exactly similar manner to the VOR in higher species. In rabbits, however, both eye and head nystagmus are equally present, whereas in the primate eye nystagmus predominates. The extraocular muscles are the effector organs for the VOR, while the extensor muscles of neck, trunk, arms and limbs are those for the vestibulocollic (VCR) and vestibulospinal reflex (VSR). Similar to the VOR, the same push–pull mechanisms are used for controlling the balance between extensor and flexor muscles. It is obvious that any change in movement, detected by the vestibular organ, is compensated by a series of contractions and relaxations of several muscles. Since the freedom of motion of the body is much larger than that of the eye, a multitude of muscles are involved in the reaction chain to maintain upright position and stability. These reflexes are mediated through projections of the vestibular nuclei on to the medial and lateral vestibulospinal tract. These pathways project to the lower limb and neck muscles to maintain an upright position and balanced locomotion. The driving input here is mainly gravity detected by the otolith system. However, proprioceptive and visual information is also necessary to provide the correct body position, given the fact that gravity is only detected in the head, regardless of the position of the trunk and lower body.
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Cervico-ocular reflex In some cases, when the head is fixed but the body is rotated, nystagmus may be observed. This reflex is based on the stimulation of neck receptors, rather than vestibular receptors. However, in humans, this reflex is very unreliable and unpredictable. Only in subjects with, for example, congenital peripheral vestibular loss does this alternative strategy for gaze stabilization become more robust. According to a review by Brandt,13 the clinical significance of lesions involving the cervico-ocular reflex (COR) are debatable. The fact that voluntary eye movements interfere with the reflex eye movements makes objective measurements very questionable.
Vestibulosympathetic reflex Moving from a supine to a standing position generates a substantial orthostatic stress on the body, inducing a pooling of blood of approximately 800 mL in the lower limbs and the abdomen. Maintenance of the supply of blood to the brain and other vital organs (orthostatic tolerance) requires the activation of sympathetic outflow in response to such changes in posture, generating increases in heart rate and vascular tone that maintain blood pressure and prevent pooling of blood in the lower body. Theotoliths have recently been shown to participate in mediating a vestibulosympathetic reflex that could help maintain orthostatic tolerance when upright.14–16 The baroreflex is a negative feedback response that buffers short-term changes in blood pressure, with a latency (1.4 s) that, among other factors, depends on the response to pooling of fluid in the legs. The vestibulosympathetic reflex
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604 Section 2: The Ear
has a shorter latency (0.4 s) that could provide earlier feed forward excitation to maintain orthostatic tolerance.14 In addition, recent studies have described an otolithsympathetic reflex that acts to increase vasoconstriction during nose-up linear acceleration,14, 16 which may be a short latency mechanism to sustain blood pressure upon standing. Besides this reflexive sensorimotor control of gaze and balance at the level of the brainstem and cerebellum, the vestibular system is also responsible for the perception of self-motion and sensorimotor control of voluntary movements and balance which are regulated at the cortical/subcortical level. Another important function of the vestibular system is the processing of higher cognitive vestibular functions such as spatial memory, orientation and navigation, where the hippocampus and parahippocampus play an important role.17
Vestibular cortex The insular cortex is a part of the cerebral cortex folded deep within the lateral sulcus and is believed to have a main role in the processing of vestibular signals.48,49 Moreover, a predominant role of the right hemisphere in the cortical processing of vestibular afferents has also been proven in the meta-analysis by zu Eulenburg etal.47 More specifically, zu Eulenburg et al. suggest that operculum parietale2, a histological defined part ofthe human parietal operculum in the right hemisphere, is the core region of the human vestibular cortex and possibly processes only vestibular information instead of multisensory input. Recently, changes in the vestibular cortex have been shown in an astronaut returning from space. 50 Space is a unique lab to investigate the effect of unusual physiological stimuli on the human body such as weightlessness. These preliminary findings corroborate the concept of neuroplasticity and may guide further research to find possible causes in the brain of vestibular disorders such as visual vestibular mismatch among others. Until recently, many vestibular dysfunctions were traditionally attributed to peripheral vestibular lesions, but the brain will become more and more important in vestibular physiology.
CENTRAL PROJECTIONS OF THE PERIPHERAL VESTIBULAR SYSTEM Any movement is detected by several parts of both left and right vestibular organs, and the results converge in the vestibular nuclei after being passed through the ganglion of Scarpa. The different canals and otolith maculae project to different portions of the vestibular nuclei from where they trigger other brain centres so as to maintain gaze stabilization, as well as body stabilization.
Projections to the central nuclei The vestibular nerve consists of a superior and inferior branch. Afferents coming from the horizontal and anterior
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canals, as well as from the utricular macula and anterosuperior region of the saccular macula, form the superior vestibular nerve, whereas the inferior vestibular branch contains fibres coming from the posterior canal and the saccular macula. The relative position of these vestibular afferents changes as the vestibular nerve approaches the brain. Fibres coming from the three SCCs are situated at the anterior side of the vestibular nerve, whereas saccular and utricular branches come together at the ventroposterior margin of the vestibular nerve.18 This knowledge is important for interpreting clinical vestibular tests, i.e.caloric and rotary tests evaluate the horizontal SCCs and thus the superior branch of the vestibular nerve, while the collic vestibular-evoked myogenic potential (cVEMP) test evaluates the saccule and thus the inferior branch. These vestibular primary afferents mainly project to the vestibular nuclear complex in the pontomedullary region of the brainstem and the cerebellum, with the highest projections to the nodulus and uvula. In the brainstem four classical vestibular nuclei (VN) have been identified: the superior (SVN), lateral (LVN), medial (MVN) and descending vestibular nuclei (DVN). In addition, several small cell groups lie at the periphery of this vestibular complex and also receive vestibular primary afferents. These include, among others, the y-group, the interstitial nucleus of the vestibular nerve (INT8), the parasolitary nucleus (Psol), and the nucleus intercalates.18–19 Canal and otolith afferents enter the vestibular nuclear complex at the level of the LVN and rostral DVN, and thereafter divide into ascending and descending pathways. The ascending branch mainly projects to the SVN and further on to the cerebellum, whereas the descending branch of all primary vestibular afferents innervates the central region of the vestibular nuclear complex.18 Topography within the vestibular complex exists, but it does not conform to the cytoarchitecturally defined boundaries.19 Several studies have tried to unravel the existence of a topographical map of the single end organ partitions, which confirmed large inconsistencies dependent on the type of test animals and the type of examination technique used.18, 20–26 This confusion about the topography is not surprising since VN are not simple relay nuclei passing along sensory information to other parts of the brain, but include a mix of complex intrinsic and projection neurons which are responsible for spatial transformation and sensory integration of the incoming head movement signals. 26 In general, it can be concluded that most peripheral systems project to the larger part of all the VN. In early reports22,24 common patterns in the central projection of vestibular afferent fibres have been demonstrated, with projections from the canals being prominent in the rostral part of the VN (horizontal and anterior SCC project laterally and posterior SCC medially) whereas otolith fibres terminate more caudally. Morerecent reports seem to agree more or less on the following findings: the SCCs project to all four VN, with the most heavy projection to the MVN and SVN. Saccular afferents project strongly to the DVN, the INT8, and the y-group, and weakly to the other VN, whereas the utricle mainly projects to the lateral and dorsal portions
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of theMVN, the ventral and lateral portions of the SVN and the rostral portion of the DVN.18,23,26 Besides input from the primary vestibular afferents, non-vestibular systems such as the optokinetic system, the neck-proprioceptive system and the cerebellar Purkinje cells also project to the vestibular nuclear complex,19 affecting the processing of vestibular signals. Within the vestibular brainstem nuclei there are commissural projections, which centrally reinforce the differential detection of vestibular signals by commissural inhibition. For signals coming from the SCC, these commissural projections allow push–pull reactions in the VOR, by interconnecting vestibular neurons with bilateral coplanar SCC-related signals. A similar organization exists for the utricular commissural connections, based on spatially aligned bilateral utricular epithelial sectors.27 This commissural inhibition results in a central amplification which is essential for the detection of small angular and linear head accelerations, and for the prolongation of the dominant time constant of the VOR which is regulated by the VSM.23,27–28 In the saccular system this commissural inhibition is present to a lesser extent; however, cross-striolar inhibition enhances here the sensitivity to linear acceleration.28 This amplification mechanism is based on the fact that neurons in the VN are typically excited monosynaptically by unilateral afferents from the striola of the saccule, whereas they are inhibited disynaptically by afferents from the other side.28 From the vestibular nuclear complex, second-order vestibular neurons project to different pathways. These neurons contribute to the control of balance by influencing the discharge of motor and pre-motor neurons. For the vestibulo-ocular pathways, the central and dorsal regions of the SVN, the MVN and ventral part of the LVN, as well as the dorsal division of the y-group project heavily to the oculomotor nuclei by means of the medial longitudinal fascicle (MLF) and the ascending tract of Deiters (ATD). 23, 26 The most important vestibulo-spinal pathways are the lateral vestibulospinal tract (LVST) and medial vestibulospinal tract (MVST), as well as the lateral and medial reticulospinal tracts (LRST and MRST). Vestibulospinal pathways originate from a wide area in the vestibular nuclear complex including MVN, LVN and DVN.18 Vestibulocerebellar pathways contain neurons coming from all parts of the vestibular nuclear complex, and mainly project to the cerebellar flocculus, paraflocculus, nodulus and uvula. 23 Next, there are also projections found to the nucleus prepositus hypoglossus (NPH), nucleus tractus solitarius, parabrachial nucleus, medullary autonomic centres, the thalamus and even further cortical into the parietoinsular vestibular cortex (PIVC).18,23,29 Most of these projections are beyond the scope of this chapter, but it should be kept in mind that mainly the vestibulocerebellum plays a dominant role in the fine-tuning of the vestibular functions, by adapting and readjusting central vestibular processing if necessary. A detailed neurological pathway of the horizontal canal stimulation will be explained below. Two types of neurons have been traced in the MVN, triggered by the lateral SCC input, namely type 1 and
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type2 neurons. Their resting discharge rates are approximately 80–90 spikes per seconds. This relatively low resting discharge rate implies that, under specific high accelerations, the discharge rate is blockedto 0spikes/s. Increased rates, however, can exceed 300 spikes/s. This intrinsic asymmetry is responsible for a limited VOR at higher frequencies when lesions occur. Some type1 neurons are excitatory (the PVP neurons) and some are inhibitory. Primary vestibular afferents synapse with inhibitory as well as excitatory type1 neurons (Figure49.13).
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Excitatory pathways Upon head rotation to one side (Figure 49.14), denoted as the ipsilateral side, the ampulla of the ipsilateral horizontal canal is stimulated followed by an immediate increase in firing rate of the neurons, proportional to the velocity of the head turn. These signals project mainly on to the ipsilateral MVN, but other parts of the VN are also involved. From there, axons decussate onto the contralateral abducens nucleus which innervates the lateral rectus of the contralateral eye through the VIth nucleus. Additionally, the interneurons of the contralateral abducens nucleus project through the longitudinal medial fasciculus to the ipsilateral medial rectus subnucleus in the oculomotor nucleus (III) that activates the medial rectus muscle of the ipsilateral eye. There is also an accessory pathway that originates from projections of the ipsilateral horizontal canal ampulla on to the ipsilateral magnocellular part of the MVN (formerly denoted as the ventral lateral vestibular nucleus). 26, 30 From there, increased activity is transmitted via the ATD onto the medial rectus subnucleus of the ipsilateral oculomotor nucleus, activating the medial rectus muscle of the ipsilateral eye. This drives both eyes to rotate towards theside opposite to the direction of the head to stabilize the image on the retina. It is important to realize that this is not a strict parallel circuit. Although the ipsilateral medial rectus and the contralateral lateral rectus muscles contract simultaneously, the signals coming from the VN neurons are not sent through collateral axons but through different pathways. This separation permits distinct regulation of muscle contraction to combine vergence movements with the VOR, while fixating targets at different distances. Additionally, studies have shown that there is a difference in physiological signals that are conveyed by the abducens internuclear (eye velocity and eye position) and ATD (head velocity) pathways, which suggests that there is a separate control of visuomotor and vestibular functions. 31
Inhibitory pathways In addition to the contraction of the appropriate eye muscles (ipsilaterally the medial rectus and contralaterally the lateral rectus), a relaxation of the antagonist eye muscles has to be initiated in the context of the push–pull principle (Figure49.15). This is generated by inhibitory type1 neurons in the ipsilateral MVN.
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606 Section 2: The Ear Primary afferent Excitation
Excitatory neuron
Excitation Type 1 excitatory neuron (PVP)
Inhibition
Excitation neuron
Inhibition
Type 1 inhibitory neuron Type 2 inhibitory neuron
Excitation
Inhibition
Inhibitory neuron
Lateral SCC Reduced gain type 1 excitatory neuron (PVP)
Inhibition
Excitation (Disinhibition)
Inhibitory neuron
Reduced gain type 1 inhibitory neuron
Figure 49.13 Code for excitation and inhibition of vestibular nuclei and oculomotor plants in the brain. Closed symbols represent excitation (full of neurotransmitters). Dashed lines denote inhibitory signal transfer. Solid lines denote excitatory signal transfer. Excitation of an inhibitory neuron will result in further inhibition. Inhibition of an inhibitory neuron results in excitation. This figure provides the key for Figures 49.16, 49.17, 49.18 and 49.19.
Head movement to left
LR
MR
LR
MR
III MLF VI ATD
VN
Excitatory pathways
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These inhibitory type 1 neurons project onto the ipsilateral abducens neurons and interneurons and, by inhibition, relax the lateral rectus on the ipsilateral eye through the VIth nerve. Likewise, the medial rectus of the contralateral eye is relaxed by inhibition of the contralateral oculomotor neurons where the signals come from the ipsilateral superior vestibular neurons and pass through the MLF. To enhance this mechanism even further, at the same time the contralateral ampulla is deflected such that the firing rate of the primary afferents is decreased. This inhibits the contralateral MVN, resulting in an opposite effect for the antagonist eye muscles, again optimizing the gaze stabilization during movement. To summarize, the generation of the VOR is mediated through a combination of signals coming from both labyrinths. During rotation to the ipsilateral side, the ipsilateral horizontal SCC with ampullopetal endolymph movement will transmit an increased firing rate to the central VN, whereas the contralateral SCC will transmit a decreased firing rate to the contralateral VN due to the ampullofugal endolymph movement.
Figure 49.14 During head rotation to the left, a VOR is generated to stabilize the eyes, with the concomitant nystagmus to the left. Stimulation of the horizontal SCCs initiates an excitatory pathway through the ganglion of Scarpa on to the vestibular nuclei. Given the projections of the canals and otolith organs to almost all parts of the vestibular nuclei(VN), we did not subdivide the nuclei into superior, inferior, medial and lateral VN. ATD,ascending tract of Deiters; LR,lateral rectus; MLF,medial longitudinal fascicle; MR,medial rectus; III,oculomotor nucleus; VI,abducens nucleus. See Figure49.13 for key.
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Head movement to left
LR
MR
MR
LR
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Acute peripheral vestibular lesion and central vestibular compensation
III MLF
VI
ATD
VN
Inhibitory pathways
Figure 49.15 During head rotation to the left, a VOR is generated to stabilize the eyes, with the concomitant nystagmus to the left. Stimulation of the horizontal SCCs also initiates an inhibitory pathway. ATD,ascending tract of Deiters; LR,lateral rectus; MLF,medial longitudinal fascicle; MR,medial rectus; III,oculomotor nucleus; VI,abducens nucleus. See Figure49.13 for key.
Commissural pathways In the VN, there are also type 2 secondary vestibular neurons, which behave in an exactly opposite manner to type1 neurons. Activating the inhibitory type2 neurons silences the neighbouring type1 neurons. Whereas type1 neurons increase their discharge rate upon ipsilateral head acceleration, inhibitory type2 neurons decrease their firing rate. For movement towards the contralateral side, ipsilateral type 1 neurons decrease their firing rate and ipsilateral type2 neurons increase it. The VOR-generating mechanism is enhanced in a positive feedback loop by commissural pathways where the excited type1 neurons in the ipsilateral MVN excite the type2 neurons on the contralateral side that in turn silence the contralateral type1 neurons.
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Excitation of the ipsilateral type1 neurons is increased as the silenced type1 neurons on the contralateral MVN inhibit the ipsilateral type2 neurons, so that their inhibitory effect is reduced on the ipsilateral type1 neurons. Therefore, type1 cells receive direct input from the ipsilateral SCC, as well as indirect input from the contralateral SCC. The commissural pathway is indicated at the bottom of Figures49.14 and 49.15. This feedback loop proves to be crucial in the case of unilateral lesions.
As a model for a peripheral lesion, the acute uVD is commonly chosen. After uVD, specific changes occur immediately at the level of type1 and type2 neurons in the MVN on the ipsilesioned site. Given the absence of peripheral activity by the SCC afferent neurons, the firing rate of the type1 neurons decreases. Due to the decreased inhibitory effect of the ipsilateral type1 neurons, the contralateral type2 neurons are less stimulated so their inhibitory effect on the contralateral healthy type1 neurons is decreased, and thus the healthy type 1 neurons increase their firing rate. This increased type 1 activity on the healthy side in turn activates the inhibitory type2 neurons on the lesioned side, so that they additionally inhibit the neighbouring type 1 neurons on the lesioned side. This imbalance generates the typical clinical signs of acute labyrinthine lesions, such as spontaneous nystagmus, i.e. a nystagmus that is present even under static conditions. The direction of the slow phase of the nystagmus is towards the lesioned side, i.e.the fast phase of the nystagmus beats towards the healthy side. The generated nystagmus reflects the situation as if the subject rotates towards the intact side. Indeed, both the absence of the ipsilesioned tonic input from the affected labyrinth and the increased contralesioned activity in the MVN mimic a rotation towards the intact side. This is illustrated in the scheme with acute uVD (Figure49.16), where a nystagmus is generated by pathways that are very similar to the generation of VOR response upon rotation to the contralateral side. The difference is that no input from the contralateral SCC is present and still a nystagmus is generated. Also the gain of the ipsilesioned type1 neurons is largely decreased and this will remain that way for a long time. Stance and gait disturbances, as well as vertigo, are clearly observed in most patients. The postural disturbance often includes head and trunk flexion towards the damaged labyrinth with the head tilted so that the ipsilesioned ear is directed down. The appearance is of the healthy side being pushed towards the damaged side, which lacks the power to counteract the push. These disturbances also occur under static, immobile conditions. The dynamic alterations yield a dysfunctional VOR, so that gaze stabilization during, for example, locomotion is hampered. Whereas the static symptoms improve within a week, the dynamic disturbances can last much longer, from weeks to years. The static symptoms decrease
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608 Section 2: The Ear Static head
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Acute uVD
Figure 49.16 Acute stage of a right lesion of the peripheral vestibular system. Only the horizontal pathway is depicted, although a torsional nystagmus can also be observed. Novertical eye movement is seen, since the effect of inhibition of both anterior and posterior canals cancels the vertical eye movements out. Now all excitatory pathways are secondary induced through the commissural pathways and the inhibition of the type 2 inhibitory neurons, generating an excitation. ATD, ascending tract of Deiters; LR, lateral rectus; MLF, medial longitudinal fascicle; MR, medial rectus; III, oculomotor nucleus; VI, abducens nucleus. See Figure 49.13 for key.
over time, as a restoration of the resting discharge rate is affected at the level of the vestibular nuclei. This results in the disappearance of the spontaneous nystagmus: a process called ‘vestibular compensation’. In humans, the gain of the VOR is permanently limited to a variable degree, depending on the acceleration of the head movements. Many VN neurons show convergent input from both canal and otolith systems. The spontaneous activity of otolith afferents arriving in the VN is important for the generation of the oculomotor compensatory responses to SCC stimulation. The consequence of this is that an otolith loss affects not only the lVOR but also the aVOR during angular acceleration. The otoliths are therefore fundamental for the optimal operation of the entire vestibular system. The imbalance in resting discharge rate between the lesioned vestibular neurons and the healthy vestibular
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neurons after uVD is the key factor that generates the acute clinical signs of nystagmus and unsteadiness. The short-term restoration of the imbalance of resting activity at the level of the VN results in a recovery of the static clinical symptoms, and the acute spontaneous nystagmus disappears within a week. Very soon after uVD (within 52hours), type1 neurons in the MVN generate a spontaneous firing rate to balance the situation, although this firing rate is not influenced by afferent input from the lesioned side during rotation towards the lesioned side. It is, however, modulated through the ipsilesioned type2 neurons that receive their input from the intact side type1 neurons. Therefore, the ipsilesioned type1 neurons are inhibited when the type1 neurons on the healthy side are excited during rotation towards the healthy side, and are disinhibited when the contralateral type1 neurons are inhibited during rotation towards the lesioned side. The responses of the ipsilesioned type1 neurons are only half of their initial responsiveness, but qualitatively they act in a similar manner as before the lesion. This recovery takes place over a period of weeks to months and parallels the clinical recovery of the patient. The type1 neurons on the intact side regain a firing rate equal to that before the acute lesion. The sensitivity (gain) decrease of the ipsilesioned neurons explains why the overall VOR gain after a lesion is lower than before the lesion. Even given the commissural network that largely enhances the efficiency of the generation of the appropriate VOR, an optimal VOR is never obtained. At slow accelerations, a relatively normal situation can be obtained, since the VN also receive input from extravestibular systems such as vision and proprioception, and they are not saturated. At higher accelerations, however, even in the physiological range, the intrinsic saturation of the inhibitory neurons (i.e. not being able to inhibit more than to 0 spikes per second), increases the deficiency of the VOR. Figure 49.17 represents the pathway upon rotation towards a lesioned side. As indicated from the diagram, the only input is the inhibition sensed at the contralateral side. Due to the commissural pathways, a very similar reflex arc is established, generating an appropriate VOR under normal conditions. Nonetheless, the time taken to evoke the appropriate eye movement may be increased, which is demonstrated as an increase in phase during laboratory testing. The clinician may be surprised by the fact that the nystagmus appears symmetrical, i.e.movements to the left and right induce a similar gain (eye velocity/head velocity), but when the phase is too high (>18 degrees), the reaction comes too late, with suboptimal gaze stabilization as a consequence. For the patient, this translates into global unease and unsteadiness, and general fatigue and psychotropic drugs will worsen this. A clinical bedside test to detect severe unilateral loss of SCC function is the head impulse or head-thrust test, first described by Halmagyi and Curthoys in 1988. 32 The head-thrust test is based on the fact that inhibition of primary and secondary vestibular neurons cannot produce fewer than 0spikes per second. Excitation can drive the discharge rate from 90 to 300 or more spikes per second. So when the healthy side is excited for a high acceleration
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Gaze holding
Head movement to right Left
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Figure 49.17 Under slow movement, rotating the head towards a stable lesioned side generates conditions for an appropriate nystagmus for gaze stabilization. ATD,ascending tract of Deiters; LR,lateral rectus; MLF,medial longitudinal fascicle; MR,medial rectus; III,oculomotor nucleus; VI,abducens nucleus. See Figure49.13 for key.
head movement, the healthy side will generate the larger part of the VOR since the disinhibition of the ipsilateral type1 neurons by the contralateral SCC contributes relatively little to the VOR. When the subjects head is turned to the lesioned side, the VOR is deficient and the eyes move together with the head, so that they no longer fixate. The patient therefore has to make one or more refixation saccades just after the thrust. When the head impulse is imposed in the direction of the healthy side, the VOR is able to maintain the target on the fovea and no refixation saccade is needed. The head-thrust test is positive for the side that causes the refixation saccades upon thrust (Figure 49.18). Not only can the lateral SCC be examined, which is in a sense a clinical approximation of the caloric test, but also the other SCC can be investigated. The patient’s head has then to be moved in the RALP or LARP planes.
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Not only is it necessary to drive the eyes in the opposite direction to the head movement, but when the head has stopped turning, the eyes should remain in position. This is a complex task as elastic-restoring forces drivethe eyes back to their primary position (straight ahead). This gaze-holding system is generated by the neural integrator, which is located in the NPH and the MVN for horizontal eye movements, and in the interstitial nucleus of Cajal (INC) for vertical movements. It is a circuit that integrates the velocity signal over the time the eye movement has occurred and this is mathematically equivalent to a position. In this way, the nuclei that command the eye muscles have input about the position that the eyes have to maintain and receive input mainly from the MVN. Horizontal or vertical retinal image motion of a target should be held below 5° in order to maintain visual acuity. Torsional movements along the line of sight are much better tolerated. Additionally, it is desirable for optimal vision that the image of the object is directed within 0.5° on the centre of the fovea. This explains the need for an intricate image stabilization system with high gains for horizontal and vertical movement, but much lower gains for torsional movements. To ensure gaze stabilization during normal movements of head and body, two mechanisms have evolved, namely the VORs and the visually mediated reflexes (optokinetic and smooth pursuit). The first is based on the detection by the labyrinth of the head movements, whereas the latter depends on the ability of the brain to determine the speed of image drift on the retina. Both reflexes work synergistically to maintain gaze stabilization during head movements. The eye movements generated by the VOR have, however, a much smaller latency (
