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Rett Syndrome

Product Type: Print Edition (Complete Book)

ISBN: 9781909962835

Series: Clinics in Developmental Medicine

Edition: 1st

Publication date: September 2017

Page count: 240

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£75.00

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Among the vast body of literature that has grown around Rett syndrome, this volume is the first to be aimed at both clinicians and researchers.

It presents a comprehensive overview of the disorder and examines the areas where gaps in knowledge are most significant.

Rett Syndrome is intended to be a guide for both initial examination and in-depth study of the disorder. It is a practical text for the physician approaching the disorder for the first time and a valuable reference resource for the specialist or researcher.

Video About the Book

Watch Dr Walter Kaufmann, Editor of Rett Syndrome, discuss the book.

Clinics in Developmental Medicine Series

Walter E Kaufmann (Editor)

Walter E. Kaufmann

Professor Walter E Kaufmann is Director of the Center for Translational Research and Curry Chair in Genetic Therapeutics at the Greenwood Genetic Center, South Carolina, USA. He is a clinician and researcher whose career has focused on characterizing the neurobehavioral phenotypes and underlying mechanisms of genetic disorders associated with intellectual disability and autism.

Alan Percy

Alan Percy

Alan Percy is a Professor in Child Neurology and currently the Interim Director of Clinical Neuroscience at the Civitan International Research Center, University of Alabama School of Medicine, Birmingham , USA. He trained in paediatrics at Stanford University Hospital and specialised in paediatric neurology at the Johns Hopkins University School of Medicine.

Angus Clarke

Professor Angus Clarke

Professor Angus Clarke is Honorary Consultant in Clinical Genetics at the Institute of Medical Genetics, University Hospital of Wales, UK. He established the Cardiff University MSc course in Genetic Counselling in 2000 and has been Course Director since then. His is also medical advisor to Rett UK.

Helen Leonard and SakkuBai Naidu

Professor Helen Leonard

Professor Helen Leonard is Senior Research Fellow and Principal Research Fellow at the Telethon Kids Institute, Perth, Western Australia. In 1992 she established the internationally unique, population-based Australian Rett Syndrome Database and has maintained the register since that time. In 2002 she set up the International Rett Syndrome Foundation Phenotype Database, InterRett.

SakkuBai Naidu , MD

Dr SakkuBai Naidu works as a Pediatric Neurologist at Kennedy Krieger Institute where she also directs Rett syndrome research at the Department of Neurogenetics. Dr Naidu is also a Professor in the Departments of Neurology and Pediatrics at the Johns Hopkins University School of Medicine. Her special interest is in developmental and neurogenetic disorders affecting children and adults.

  • AUTHORS’ APPOINTMENTS
  • FOREWORD
  • PREFACE
  • A TRIBUTE TO BENGT HAGBERG, ALAN PERCY
  • PROLOGUE: PERSONAL PERSPECTIVE BENGT HAGBERG, ALISON KERR AND KATHY HUNTER
  • 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 PERCY AND DANIEL GLAZE
  • 3. THE CLINICAL GENETICS OF RETT SYNDROME, ANGUS CLARKE, HAYLEY ARCHER AND JOHN CHRISTODOULOU
  • 4. GENETIC SOURCES OF VARIATION IN RETT SYNDROME, JEFFREY L NEUL, HELEN LEONARD, ALESSANDRA RENIERI, SONIA BROWER AND FRANCESCA MARI
  • 5. COGNITION, BEHAVIOUR AND COMMUNICATION, 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. ORTHOPAEDIC ISSUES IN RETT SYNDROME, JENNY DOWNS, DAVID P ROYE, GORDON BAIKIE AND BRENDAN WILLIAMS
  • 8. SLEEP ISSUES IN RETT SYNDROME, CAROLYN ELLAWAY, DANIEL GLAZE, SAROJINI BUDDEN AND YOSHIKO NOMURA
  • 9. EPILEPSY IN RETT SYNDROME, BRURIA BEN-ZEEV, ANDREEA NISSENKORN, MARIA PINTAUDI AND DANIEL GLAZE
  • 10. BREATHING ABNORMALITIES IN RETT SYNDROME, NINO RAMIREZ, CHRISTOPHER S WARD AND JEFFREY L NEUL
  • 11. GROWTH, FEEDING AND NUTRITION, AND BONE HEALTH IN RETT SYNDROME,
  • KATHLEEN MOTIL
  • 12. MOLECULAR COMPLEXITIES OF MECP2 FUNCTION AS A MASTER EPIGENETIC REGULATOR DEFICIENT IN RETT SYNDROME, JANINE M LASALLE AND MICHAEL L GONZALES
  • 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,
  • SAKKUBAI NAIDU, WENDY GOLD AND JOHN CHRISTODOULOU
  • 15. REHABILITATION IN RETT SYNDROME, SAROJINI BUDDEN
  • 16. PERSPECTIVES, WALTER E KAUFMANN
  • INDEX

'I found it pleasant that such an emphasis is given on the molecular origin and the neurobiologic basis of the syndrome. The book by Kaufmann and coauthors covers Rett syndrome comprehensively, starting with an ample introduction on the history and course of its recognition. In this part of the book, I found the personal view of a Rett girĺs mother ('A Motheŕs Journey') most exceptional and touching. The authors of the individual chapters are experts in their fields and cover their individual topics extensively. This book will suit well in the bookshelf of any health care professional who is frequented by children with Rett syndrome.' Bernd A. Neubauer, Neuropediatrics, 2018

'The book makes an excellent read, not just for those with a specific interest in Rett syndrome, but because of the wider lessons that a rather extraordinary gene defect can teach us about the normal mechanisms of brain development and function.' Hilary Cass, Developmental Medicine & Child Neurology, 2017

'Recognizing this is a rapidly changing field, the volume is liberally sprinkled with guidance for future revisions and explorations. Chapters on sleep, GI, epilepsy, orthopedic, respiratory features are helpful for understanding not only this syndrome but these individual features in children with severe disability without RTT. The concept that RTT is more of a disorder of neuronal plasticity leading to the notion of potential but not yet realized direct treatment is intriguing. This is an excellent reference on RTT.' American Academy for Cerebral Palsy & Developmental Medicine Newsletter, 2017

'Part of the Clinics in Developmental Medicine series and authored by prominent experts on Rett syndrome, this is a marvelous source of current knowledge. A wonderful prologue by Dr. Bengt Hagber, a pioneer in Rett syndrome, provides important insights into the recognition of this rare disorder. The authors' goals are clear - it is to provide a comprehensive and succinct description of current knowledge on Rett syndrome. They also provide a historical perspective that may surprise readers about the relative recent age of Rett syndrome as recognized as a unique disorder. In addition, they present provocative data on the future of Rett syndrome and questions still yet to be answered. This book is a job well done with extreme expertise. The audience is immeasurable, from expert neurologists in the field to beginner subspecialist trainees, who will find this to be a remarkable source. Medical geneticists and basic scientists interested in genotype-phenotype correlations will recognize this as an essential book on their shelves. Finally, families affected by Rett syndrome will find valuable information to help them understand their affected relatives. The book takes readers from diagnosis, recognition, and identification of symptoms to management. It is divided in three sections: diagnosis, genotype-phenotype correlations including the molecular basis of clinical symptoms, and clinical approach to treatment. There are not many illustrations, but they are well selected. As indicated in the preface, a print medical book in the 21st century comes with the risk of quick obsolescence, but the information presented here would remain valuable for many years. This is a unique publication. There is no similar book on the market that includes the information this one presents in such well-organized manner. I enjoyed this book tremendously.' Luis Escobar, MD., MS., Peyton Manning Children's Hospital