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
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,
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
'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
'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
'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
'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
‘This book is unique in its overall broad spectrum describing RETT syndrome (RTT) from the history of its identification to the detailed clinical, communication, cognitive and behavioral features, their temporal evolution, its medical and surgical management, molecular genetics, research findings leading to therapeutic trials, and including a parental experience description. As such, this precious compendium skillfully crafted by 40 expert authors led by five editors can be thought of as a model for the comprehensive approach needed for rare disease syndrome management by professionals in pediatrics, neurosciences, genetics, physiology, physiotherapy, rehabilitation, and drug discovery. This book constitutes a prototype for rare disease syndrome description with its large collaborative authorship, its broad spectrum of specialties, its inclusion of parental descriptions and case studies, its very thorough clinical and scientific analysis of all features of the disorder, its therapeutic outlook, and its practical advices for all healthcare workers.’
Pierre Bitoun, European Journal of Human Genetics, 2018