Rett syndrome PDF
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2 © 2017 Mac Keith Press 6 Market Road, London, N7 9PW Managing Director: Ann-Marie Halligan Commissioning Editor/Production Manager: Udoka Ohuonu Project Management: Riverside Solutions Ltd The views and opinions expressed herein are those of the authors and do not necessarily represent those of the publisher. 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 or otherwise, without the prior written consent of the copyright holder or the publisher. First published in this edition in 2017 British Library Cataloguing-in-Publication data A catalogue record for this book is available from the British Library Cover image: Sydney Crandall, a patient of Prof Kaufmann. Cover design: Hannah Rogers ISBN: 978-1-909962-83-5 Mac Keith Press is supported by Scope 3 CONTENTS AUTHORS’ APPOINTMENTS FOREWORD BENGT HAGBERG : LEADING THE WAY TO RETT SYNDROME TODAY A tribute by Dr Alan K Percy PREFACE PROLOGUE: PERSONAL PERSPECTIVES My ‘Rett’ Story Bengt Hagberg A Mother’s Journey Kathy Hunter A Perspective from the British Isles Alison Kerr 1. THE DIAGNOSIS OF RETT SYNDROME Walter E Kaufmann and Jeffrey L Neul 2. THE NATURAL HISTORY OF RETT SYNDROME: BUILDING ON RECENT EXPERIENCE Alan K Percy and Daniel G Glaze 3. THE CLINICAL GENETICS OF RETT SYNDROME Hayley Archer, John Christodoulou and Angus Clarke 4. GENETIC SOURCES OF VARIATION IN RETT SYNDROME Sonia Bjorum Brower, Helen Leonard, Francesca Mari, Alessandra Renieri and Jeffrey L Neul 5. COGNITION, COMMUNICATION AND BEHAVIOR IN INDIVIDUALS WITH RETT SYNDROME Gillian S Townend, Walter E Kaufmann, Peter B Marschik, Rosa Angela Fabio, Jeff Sigafoos and Leopold MG Curfs 6. MOTOR ABNORMALITIES IN RETT SYNDROME Jenny Downs and Teresa Temudo 7. ORTHOPEDIC ISSUES IN RETT SYNDROME David P Roye Jr, Jenny Downs, Gordon Baikie and Brendan A Williams 8. SLEEP ISSUES IN RETT SYNDROME Daniel G Glaze, Sarojini Budden, Yoshiko Nomura and Carolyn Ellaway 4 9. EPILEPSY IN RETT SYNDROME Andreea Nissenkorn, Maria Pintaudi, Daniel G Glaze and Bruria Ben-Zeev 10. BREATHING ABNORMALITIES IN RETT SYNDROME Jan Marino Ramirez, Christopher Scott Ward and Jeffrey L Neul 11. GROWTH, FEEDING AND NUTRITION, AND BONE HEALTH IN RETT SYNDROME Kathleen J Motil 12. MOLECULAR COMPLEXITIES OF MeCP2 FUNCTION IN RETT SYNDROME Michael L Gonzales and Janine M LaSalle 13. THE NEUROBIOLOGY OF RETT SYNDROME Walter E Kaufmann, James H Eubanks, Michael V Johnston and Mary E Blue 14. TREATMENTS FOR RETT SYNDROME: PROSPECTS FOR TARGETED THERAPIES Wendy A Gold, SakkuBai Naidu and John Christodoulou 15. REHABILITATION IN RETT SYNDROME Sarojini Budden 16. PERSPECTIVES IN RETT SYNDROME: WHERE WE ARE AND WHERE WE SHOULD GO Walter E Kaufmann, Alan K Percy, Angus Clarke, Helen Leonard and SakkuBai Naidu 5 AUTHORS’ APPOINTMENTS Hayley Archer Former Consultant Clinical Geneticist, All Wales Medical Genetics Service, University Hospital of Wales, Cardiff, UK Gordon Baikie Honorary Research Fellow, Murdoch Childrens Research Institute; Honorary Clinical Senior Lecturer, department of Paediatrics, University of Melbourne, Australia Bruria Ben-Zeev Head of Pediatric Neurology Unit & National Rett Clinic, Safra Children Hospital, Sheba Medical Center, Tel Ha Shomer, Sackler School of Medicine, Tel Aviv University, Israel Mary E Blue Associate Professor of Neurology and Neuroscience, Hugo W Moser Research Institute at Kennedy Krieger, Inc., and Johns Hopkins University School of Medicine, Baltimore, Md, USA Sonia Brower Senior Technical Writer, ATCC Federal Solutions, Manassas, VA, USA Sarojini Budden Emeritus Associate Professor, department of Pediatrics, oregon Health and Sciences University Portland, oR, USA John Christodoulou Head, Neurodevelopmental Genomics Research Group, Murdoch Children’s Research Institute; Chair of Genomic Medicine, department of Pediatrics, University of Melbourne, Melbourne, Australia Angus Clarke Professor of Clinical Genetics, School of Medicine, Cardiff University, Wales, UK Leopold MG Curfs Professor and director Governor Kremers Center and Head, Rett Expertise Center Netherlands, Maastricht University Medical Center, Maastricht, the Netherlands Jenny Downs Co-Head, Child disability and Senior Research Fellow, Telethon Kids Institute, Perth, Australia Carolyn Ellaway Associate Professor, Clinical Geneticist, Genetic Metabolic disorders Service, Sydney Children’s Hospital Network, Sydney University, Australia James H Eubanks Senior Scientist, Krembil Research Institute, University Health Network, Toronto, ontario, Canada Rosa Angela Fabio Professor of Experimental Psychology, department of Cognitive Science, Psychological, Pedagogical and Cultural Studies, 6 University of Messina, Italy Daniel G Glaze Professor, departments of Pediatrics and Neurology; Medical director, The Blue Bird Circle Rett Center, Baylor College of Medicine, Houston, TX, USA Wendy A Gold Senior Lecturer, Kids Research Institute, The Children’s Hospital at Westmead, University of Sydney, Australia Michael L Gonzales Senior Scientist, Fluidigm Corporation, Biotechnology Company, San Francisco, CA, USA Bengt Hagberg Emeritus Professor of Pediatrics, University of Gothenburg, Sweden Kathy Hunter Founder, International Rett Syndrome Association, Fort Washington, Md, USA Michael V Johnston Chief Medical officer and Blum Moser Endowed Chair for Pediatric Neurology, Kennedy Krieger Institute; Professor of Neurology, Pediatrics and Physical Medicine and Rehabilitation, Johns Hopkins University School of Medicine, Baltimore, Md, USA Water E Kaufmann Ravenel Boykin Curry Chair in Genetic Therapeutics, Professor of Neurology, Greenwood Genetic Center; Research Professor of Pediatrics, University of South Carolina School of Medicine; Adjunct Professor of Human Genetics, Emory University School of Medicine, Atlanta GA, USA Alison Kerr Honorary Clinical Senior Lecturer (Retired), Institute of Health and Wellbeing, University of Glasgow, Scotland, UK Janine M LaSalle Professor, Medical Microbiology and Immunology, School of Medicine, University of California, davis, CA, USA Helen Leonard Associate Professor, NHMRC Senior Research Fellow, Principal Research Fellow, Telethon Kids Institute, The University of Western Australia, Crawley, Australia Francesca Mari Associate Professor, Medical Genetics Unit, Policlinico S. Maria alle Scotte, Siena, Italy Peter B Marschik Head of Interdisciplinary developmental Neuroscience; Associate Professor, department of Phoniatrics, Medical University of Graz, Austria; Associate Professor, Karolinska Institutet, Center of Neurodevelopmental disorders (KINd), department of Women’s and Children’s Health, Stockholm, Sweden Kathleen J Motil Professor of Pediatrics, Baylor College of Medicine, Section of Gastroenterology, Hepatology, & Nutrition, Texas Children’s 7 Hospital, Houston, TX, USA SakkuBai Naidu Professor, departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine; Research Scientist, department of Neurogenetics Kennedy Krieger Institute, Baltimore, Md, USA Jeffrey L Neul Professor and Chief of division of Child Neurology, department of Neurosciences, University of California, San diego, La Jolla, CA, USA Andreea Nissenkorn Head of Rare diseases Service, Pediatric Neurology Unit, Safra Children Hospital, Sheba Medical Center, Tel Ha Shomer, Sackler School of Medicine, Tel Aviv University, Israel Yoshiko Nomura director, Yoshiko Nomura Neurological Clinic for Children, Tokyo, Japan Alan K Percy Professor, Pediatrics, Neurology, Neurobiology, Genetics, and Psychology, University of Alabama at Birmingham School of Medicine, Birmingham, AL, USA Maria Pintaudi Child Neuropsychiatrist, department of Neuroscience Rehabilitation, opthalmology, Genetics and Maternal-Infant Sciences, University of Genoa, Italy Jan Marino Ramirez Professor of Neurological Surgery and Pediatrics, University of Washington School of Medicine; director, Center for Integrative Brain Research, Seattle Children’s Hospital, Seattle, WA, USA Alessandra Renieri Professor, department of Medical Biotechnology, University of Siena, Italy David P Roye Jr Professor of Clinical Pediatric orthopedic Surgery, Columbia University Medical Center, New York, NY, USA Jeff Sigafoos Professor, School of Education,Victoria University of Wellington, Wellington, New Zealand Teresa Temudo Pediatric Neurologist, Serviço de Neuropediatria, Centro Hospitalar do Porto, Porto, Portugal Gillian S Townend Researcher, Rett Expertise Centre-GKC, Maastricht University Medical Centre, Maastricht, The Netherlands Christopher S Ward Preclinical Studies Manager; Research Associate, Jan and dan duncan Neurological Research Institute, Baylor College of Medicine, Houston, Texas USA Brendan A Williams Chief Resident in orthopedics, University of Florida, Gainesville, FL, USA 8 9 FOREWORD Rett syndrome is an important disorder to a great many people. This is not so much because it affects several thousand individuals worldwide (it is a rare disease), or that it results in substantial disability but because the recognition of its complexity has paralleled fundamental developments in pediatric neurology, neurogenetics, and neurodisability. It has become impossible to make sense of any neurodevelopmental disorder without a thorough multi-dimensional perspective, which is ably demonstrated in this book. In addition to accurate, up- to-date information about every aspect of Rett syndrome, regarding both basic understanding and clinical management, this timely volume provides messages that may serve as guiding principles across a wide array of neurological conditions. As described in the Prologue, the characterisation of Rett syndrome originated in self-confident, clinical observation: Andreas Rett observed facts (i.e. empirical data) and in the face of incomplete knowledge, made a situational judgement that the girls he had observed who showed stereotypical hand movements and other signs shared a specific syndrome that had not been described previously. This approach remains at the core of all good medical practice. The same scenario was repeated by other clinicians in Japan, Sweden and elsewhere until the syndrome gained wide recognition in the medical world. The phenotype of Rett syndrome was refined to suggest diagnostic criteria, update them based on better observation, and pave the way to the discovery of its biological basis. A breakthrough in this process was the demonstration of MECP2 mutations, with crucial implications for diagnosis and new questions on pathophysiology, many of them still unanswered. Thus, Rett syndrome became the first neurodevelopmental disorder related to defective transcription of methylated DNA. Importantly, those clinicians recognised the value of behavioural manifestations by characterising the association of the cognitive, language, social skills, and motor control features that constitute the behavioural phenotype of Rett syndrome. The behavioural phenotype of conditions that were described around the time of Andreas Rett’s first observations (e.g. Williams syndrome [1961], Lesch–Nyhan syndrome [1964], or Angelman syndrome [1965]), remain highly relevant to current clinical practice, in particular with regard to diagnosis, management, and outcome measures. Yet the clinical course of Rett syndrome poses a challenge to the classic distinction between neurodevelopmental disorders, in which a brain defects cause symptoms from birth, and neurodegenerative disorders in which progressive, life-limiting changes induce the gradual loss of acquired skills. In Rett syndrome, most infants do not show any obvious developmental problems. After a few months, however, severe regression occurs, together with a delay in acquiring new skills, emergence of autistic features, loss of purposeful manipulation skills replaced by stereotyped hand movements, ataxia and apraxia, while no neuronal degeneration explains the change. This has led clinicians to consider development and neurodevelopmental disorders in a more complex way than the linear approach that has long prevailed in the field. Several models have been suggested to explain the ‘natural history’ of Rett syndrome, from arrested development to stage systems, though the current trend tends to focus on individual developmental trajectories, activities of daily 10
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