The Effects of Genetic Hearing Impairment in the Family

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1 The Effects of Genetic Hearing Impairment in the Family Edited by DAFYDD STEPHENS AND LESLEY JONES

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3 The Effects of Genetic Hearing Impairment in the Family

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5 The Effects of Genetic Hearing Impairment in the Family Edited by DAFYDD STEPHENS AND LESLEY JONES

6 Copyright 2006 John Wiley & Sons, Ltd The Atrium, Southern Gate, Chichester, West Sussex PO19 8SQ, England Telephone (+44) (for orders and customer service enquiries): Visit our Home Page on All Rights Reserved. No part of this publication may be reproduced, stored in a retrieval system or transmitted in any form or by any means, electronic, mechanical, photocopying, recording, scanning or otherwise, except under the terms of the Copyright, Designs and Patents Act 1988 or under the terms of a licence issued by the Copyright Licensing Agency Ltd, 90 Tottenham Court Road, London W1T 4LP, UK, without the permission in writing of the Publisher. Requests to the Publisher should be addressed to the Permissions Department, John Wiley & Sons Ltd, The Atrium, Southern Gate, Chichester, West Sussex PO19 8SQ, England, or ed to permreq@wiley.co.uk, or faxed to (+44) Designations used by companies to distinguish their products are often claimed as trademarks. All brand names and product names used in this book are trade names, service marks, trademarks or registered trademarks of their respective owners. The Publisher is not associated with any product or vendor mentioned in this book. This publication is designed to provide accurate and authoritative information in regard to the subject matter covered. It is sold on the understanding that the Publisher is not engaged in rendering professional services. If professional advice or other expert assistance is required, the services of a competent professional should be sought. Other Wiley Editorial Offices John Wiley & Sons, Inc., 111 River Street, Hoboken, NJ 07030, USA Jossey-Bass, 989 Market Street, San Francisco, CA , USA Wiley-VCH Verlag GmbH, Boschstr. 12, D Weinheim, Germany John Wiley & Sons Australia Ltd, 42 McDougall Street, Milton, Queensland 4064, Australia John Wiley & Sons (Asia) Pte Ltd, 2 Clementi Loop #02-01, Jin Xing Distripark, Singapore John Wiley & Sons Canada Ltd, 6045 Freemont Blvd, Mississauga, ONT L5R 4J3 Wiley also publishes its books in a variety of electronic formats. Some content that appears in print may not be available in electronic books. Library of Congress Cataloging-in-Publication Data The effects of genetic hearing impairment in the family / edited by Dafydd Stephens and Lesley Jones. p. ; cm. Includes bibliographical references and index. ISBN-13: (pbk. : alk. paper) ISBN-10: (pbk. : alk. paper) 1. Deafness Genetic aspects. 2. Ear Abnormalities Genetic aspects. 3. Hearing disorders Patients Family relationships I. Stephens, Dafydd. II. Jones, Lesley, [DNLM: 1. Hearing Disorders genetics. 2. Attitude to Health. 3. Family Health. 4. Genetic Counseling. 5. Genetic Predisposition to Disease. 6. Hearing Disorders psychology. WV 270 E ] RF292.E dc British Library Cataloguing in Publication Data A catalogue record for this book is available from the British Library ISBN-13: ISBN-10: Typeset by SNP Best-set Typesetter Ltd., Hong Kong Printed and bound in Great Britain by TJ International Ltd, Padstow, Cornwall This book is printed on acid-free paper responsibly manufactured from sustainable forestry in which at least two trees are planted for each one used for paper production.

7 Contents Contributors ix Preface xi Acknowledgements xv PART I RETROSPECTIVE STUDIES 1 The Impact of Having a Family History of Hearing Loss in Elderly People 3 Dafydd Stephens, Peter Lewis and Adrian Davis 2 The Impact of a Family History of Hearing Loss in the Blue Mountains Study 15 Doungkamol Sindhusake, Dafydd Stephens, Philip Newall and Paul Mitchell 3 The Impact for Children of Having a Family History of Hearing Impairment in a UK-Wide Population Study 29 Heather Fortnum, Garry Barton, Dafydd Stephens, Paula Stacey and A. Quentin Summerfield 4 Early Childhood Hearing Impairment and Family History: A Long-Term Perspective 43 Per-Inge Carlsson and Berth Danermark 5 Effects on the Working Life of a History of Hearing Problems in the Family of Origin 55 Lotta Coniavitis Gellerstedt and Berth Danermark PART II PROSPECTIVE STUDIES LATE ONSET HEARING IMPAIRMENT 6 Effects of a Family History on Late Onset Hearing Impairment: Results of an Open-Ended Questionnaire 71 Sophia E. Kramer, Adriana A. Zekveld and Dafydd Stephens 7 Factors in the Effects of a Family History on Late Onset Hearing Impairment 81 Dafydd Stephens, Sophia E. Kramer and Angeles Espeso

8 vi CONTENTS 8 The Impact that a Family History of Late Onset Hearing Impairment Has on Those with the Condition Themselves 95 Sarah Coulson 9 Influence of a Family History of Hearing Impairment on Participation Restriction, Activity Limitation, Anxiety and Depression 117 Angeles Espeso and Dafydd Stephens 10 Does a Family History of Hearing Impairment Affect Help-Seeking Behaviour and Attitudes to Rehabilitation? 127 Claire Wilson and Dafydd Stephens 11 The Impact of a Family History of Hearing Impairment on Rehabilitative Intervention: A One-Year Follow-Up 135 Christophe Saglier, Fernando Perez-Diaz, Lionel Collet and Roland Jouvent PART III CONDITIONS ASSOCIATED WITH FAMILIAL HEARING IMPAIRMENT 12 The Influence of a Family History of Hearing Loss, and/or of Tinnitus, on Tinnitus Annoyance and Distress 147 Sylviane Chéry-Croze and Hung Thai-Van 13 Tinnitus: The Impact of Family History 187 Veronica Kennedy and Dafydd Stephens 14 Psychosocial Aspects of Neurofibromatosis Type 2 Reported by Affected Individuals 207 Wanda Neary, Dafydd Stephens, Richard Ramsden and Gareth Evans 15 Psychosocial Aspects of Neurofibromatosis Type 2 Reported by Relatives and Significant Others 227 Wanda Neary, Dafydd Stephens, Richard Ramsden and Gareth Evans 16 Attitudes of Adults with Otosclerosis towards Issues Surrounding Genetics and the Impact of Hearing Loss 237 Anna Middleton, Ioannis Moumoulidis, Graeme Crossland, Mallappa Raghu, Pranay Kumat Singh, Evan Reid and Patrick Axon 17 People s Reaction to Having a Family History of Otosclerosis 245 Dafydd Stephens and Nele Lemkens PART IV GENETIC COUNSELLING AND FAMILY REACTIONS 18 Genetic Counselling and the d/deaf Community 257 Anna Middleton

9 CONTENTS 19 Seeing Chromosomes: Improving Access to Culturally Sensitive Genetic Counselling through the Provision of Genetic Information in British Sign Language 285 Rachel Belk 20 Ethnicity, Spirituality and Genetics Services 297 Lesley Jones, Ghazalla Mir and Rehana Khan 21 Living with NF2 321 Peter Crawshaw and Cynthia Crawshaw 22 The Meaning of Hearing Loss in the Same Family over Nearly 200 Years 327 Anna-Carin Rehnman vii PART V RESEARCH NEEDS 23 Family History of Hearing Impairment and Its Psychological and Social Consequences What Next? 343 Berth Danermark (with contributions from Per-Inge Carlsson, Lesley Jones and Dafydd Stephens) Index 357

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11 Contributors Patrick Axon, Department of Otolaryngology, Addenbrookes Hospital, Cambridge, England Garry Barton, Division of Primary Care, University of Nottingham, Nottingham, England Rachel Belk, Department of Genetic Conselling, University of Manchester, Manchester, England Per-Inge Carlsson, Swedish Institute for Disability Research, Örebro University, Örebro, Sweden Sylviane Chéry-Croze, Neurosciences and Sensory Systems Laboratory, UMR CNRS UMR 5020, Lyon, France Lionel Collet, Neurosciences and Sensory Systems Laboratory, UMR CNRS UMR 5020, Lyon, France Lotta Coniavitis Gellerstedt, Swedish Institute for Disability Research, Örebro University, Örebro, Sweden Sarah Coulson, Department of Medical Genetics, Leeds, England Peter and Cynthia Crawshaw, Department of Radiology, Furness General Hospital, Barrow-in-Furness, England Graeme Crossland, Department of Otolaryngology, Addenbrookes Hospital, Cambridge, England Adrian Davis, Department of Audiology, University of Manchester, Manchester, England Berth Danermark, Swedish Institute for Disability Research, Örebro University, Örebro, Sweden Angeles Espeso, Welsh Hearing Institute, University Hospital of Wales, Cardiff, Wales Gareth Evans, Department of Medical Genetics, University of Manchester, Manchester, England Heather Fortnum,Trent Research and Development Support Unit, Nottingham University Medical School, Queen s Medical Centre, Nottingham, England Lesley Jones, Centre for Research in Primary Care, University of Leeds, Leeds, England Roland Jouvent, CNRS UMR 7593, Hôpital de la Salpêtrière, Paris, France Veronica Kennedy, Welsh Hearing Institute, University Hospital of Wales, Cardiff, Wales Rehana Khan, Department of Genetic Counselling, University of Manchester, Manchester, England

12 x LIST OF CONTRIBUTORS Sophia E. Kramer, Department of Audiology, Vrije University, Amsterdam, Netherlands Nele Lemkens, Department of Otolaryngology, University of Antwerp, Antwerp, Belgium Peter Lewis, Department of Mathematical Sciences, University of Bath, Bath, England Anna Middleton, Institute of Medical Genetics, University Hospital of Wales, Cardiff, Wales Ghazalla Mir, Centre for Research in Primary Care, University of Leeds, Leeds, England Paul Mitchell, Department of Ophthalmology, University of Sydney, Australia Ioannis Moumoulidis, Department of Otolaryngology, Addenbrookes Hospital, Cambridge, England Wanda Neary, Department of Paediatrics, Warrington Hospital, Warrington, England Philip Newall, Department of Linguistics, Macquarie University, New South Wales, Australia Fernando Perez-Diaz, CNRS UMR 7593, Hôpital de la Salpêtrière, Paris, France Mallappa Raghu, Department of Otolaryngology, Addenbrookes Hospital, Cambridge, England Richard Ramsden, Department of Otolaryngology, University of Manchester, Manchester, England Anna-Carin Rehnman, Department of Human Development, Learning and Special Education, Stockholm Institute of Education, Stockholm, Sweden Evan Reid, Department of Medical Genetics, Addenbrookes Hospital, Cambridge, England Christophe Saglier, Neurosciences and Sensory Systems Laboratory, UMR CNRS UMR 5020, Lyon, France Doungkamol Sindhusake, Centre for Health Services Research, School of Public Health, University of Sydney at Westmead, New South Wales, Australia Pranay Kumar Singh, Department of Otolaryngology, Addenbrookes Hospital, Cambridge, England Paula Stacey, Department of Psychology, University of York, England Dafydd Stephens, Welsh Hearing Institute, University Hospital of Wales, Cardiff, Wales A. Quentin Summerfield, Department of Psychology, University of York, York, England Hung Thai-Van, Neurosciences and Sensory Systems Laboratory, UMR CNRS UMR 5020, Lyon, France Claire Wilson,Welsh Hearing Institute, University Hospital of Wales, Cardiff,Wales Adriana A. Zekveld, Department of Audiology, Vrije University, Amsterdam, Netherlands

13 Preface RATIONALE FOR BOOK ON FAMILIAL HEARING IMPAIRMENT What is to be gained by the study of a family history of hearing impairment? This book and our desire to pursue this question arose from the psychosocial working group (WP6) of the European Gendeaf Thematic Network (Stephens & Jones, 2005). During the course of this it became apparent that there were some significant effects of having a genetic hearing impairment compared with having an acquired disorder. With the increasing impact of genetics in health and medicine we felt it worthwhile to try to see whether or not the significance of family histories had an impact on people s decision-making about their lives and on clinicians practice as well as on policy. The first book revealed that, although the significance was not enormous, there did indeed seem to be some positive aspects of having a family history (e.g. Stephens, 2005; Stephens & Kramer, 2005). This could perhaps be explained in terms of having positive role models, a ready supply of help and advice or early anticipation of problems leading to solutions being sought in good time. There were a number of explanations, which have emerged in this collection of writing. Such a family history may not always have a direct genetic aetiology. It may be due to a predisposition to noise-induced hearing impairment or to chronic otitis media. In some cases it may be merely due to a chance occurrence. However, whatever the aetiology, the fact of having a clear role model in the family appears to be a key factor. We begin in Part I by looking at retrospective studies on the impact of hearing loss in elderly people, using secondary analyses. In Chapter 1, Stephens, Lewis and Davis in the UK found that those people in a population survey who reported a family history of hearing impairment, reported a greater impact of their own impairment in terms of hearing, tinnitus and hyperacusis, extending their earlier analyses (Stephens et al., 2003). In a parallel analysis of an Australian project, the Blue Mountains Survey, Sindhusake et al. (Chapter 2) report effects of a family history in elderly people resulting in greater hearing impairment and also the impact of such impairment, but no real effect on tinnitus. A large-scale study on childhood hearing impairment in the UK by Fortnum and colleagues from Nottingham (Chapter 3) suggests that most of the somewhat limited effects, both positive and negative, reported of having a family

14 xii PREFACE history on hearing-impaired children are found in those with one or more profoundly deaf parents. Two studies in Sweden (Chapters 4 and 5) following up earlier investigations agree that, while there are some positive effects of such a family history, when the children become older, such effects are relatively small. Part II looks at prospective studies of late onset hearing impairment, which do reveal differences, and generally positive aspects of the impairment. Building on the findings of earlier studies (e.g. Stephens & Kramer, 2005) we attempt to look at ways of determining these effects on people s perceptions (Kramer et al., Chapter 6; Stephens et al., Chapter 7; and Coulson, Chapter 8). These indicate a preponderance of positive effects which are found principally among those already aware of the familial nature of their hearing impairment. However, in terms of anxiety, depression and disabilities (Espeso and Stephens, Chapter 9) the effects, if any, are very small. The ways in which people try to deal with their hearing impairment by seeking help is then examined in terms of help-seeking behaviour (Wilson and Stephens, Chapter 10) and on the effect of rehabilitative interventions by Saglier et al. (Chapter 11).Again, in these cases, effects of such a family history are minimal and dominated by other factors. Part III looks at prospective studies on conditions associated with hearing impairment. It begins with a French study on the impact of tinnitus and the influence of a family history in self-help groups (Chéry-Croze and Thai-Van, Chapter 12), followed by a UK study of the same topic in a clinic population (Kennedy and Stephens, Chapter 13). Generally speaking there was a positive effect of having a family history of tinnitus, and hence a role-model, but that effect was less in the clinical population than in the self-help group. Neary et al. look at the psychosocial effects of neurofibromatosis type 2 firstly at the effect on those with the condition (Chapter 14) and then on those closest to them (Chapter 15). Hearing impairment seems to have the largest effect on the individuals and, surprisingly, most of the patients and their partners are able to identify positive experiences associated with the condition. Otosclerosis is the next topic and its relationship to genetics. Middleton et al. (Chapter 16) were unable to define any difference between the attitudes of those who had a family history of the condition and those who did not, but Stephens and Lemkens (Chapter 17) found that most had a positive experience associated with having a family history. Part IV examines the pragmatic way in which everyday life is affected by a family history. It also concentrates on genetic counselling and how it deals with the issues and ways in which it may be improved. A forthcoming booklet by Middleton et al. will develop this further. In the present book Middleton (Chapter 18) begins by an examination of genetic counselling which is appropriate to national Sign Language users and those with a family history of deafness. She emphasises the need to work with interpreters and to avoid value-laden terms, such as abnormal, and negative words about deafness in general.

15 PREFACE xiii Belk (Chapter 19) continues this through the use of National Sign Language and the translation of genetic information. This may well be a complicated concept such as risk and transmission of genes. Belk develops some interesting ways in which these difficulties can be overcome in a culturally sensitive way. Jones, Mir and Khan (Chapter 20) write about ethnicity, spirituality and genetic counselling. This chapter explores the contested ways of describing and measuring ethnicity and its relationship to spirituality and religion. It also looks at the ways in which people s beliefs affect how they view having a child born with a hearing impairment or discovering that their family history may be involved. Decisions about whether or not to have genetic testing or whether or not to terminate are all influenced by people s beliefs. Clinicians have to find their way through this complex picture of expressed and unexpressed views. The notion of informed consent is one which requires both parties to understand each other well, so this chapter, like the earlier two about the Deaf community, discusses interpreting and translation of terms. Chapter 21 is a personal account by Peter Crawshaw and his wife, Cynthia, of living with NF2 from the point of the view of the person with the condition. Anna-Carin Rehnman (Chapter 22) writes about her own family history of hearing impairment over 200 years in a fascinating account including changes in technology and societal attitudes over that time. We conclude, in Part V, with Chapter 23 by Danermark (with contributions from others) which looks at future developments in the field and attempts to provide a model of family history and the psychological and social consequences. This acknowledges the incompleteness of our data and the complexity of the social processes involved. The chapter summarises the technological, demographic and aetiological changes affecting this area of research as well as those in medicine and socio-economics. We are seeking to identify the impact of a family history of hearing impairment on people s lives. This is obviously an area which needs more work and to which we would want to make a contribution by changing practice. In order to do this we have tried to bring together a multi-disciplinary group from several countries writing from very different perspectives. The authors in this book have been working independently and with great commitment in related fields and their research and experience have been brought together to try to broaden the scope of the study of familial hearing impairment. Lesley Jones and Dafydd Stephens REFERENCES Stephens D (2005) The impact of hearing impairment in children. In D Stephens, L Jones (eds) The Impact of Genetic Hearing Impairment. London: Whurr, pp