Fragile X Syndrome and Premutation Disorders


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Fragile X syndrome results from a gene mutation on the X-chromosome, which leads to various intellectual and developmental disabilities. Fragile X Syndrome and Premutation Disorders offers clinicians and families a multidisciplinary approach in order to provide the best possible care for patients with Fragile X. Unique features of the book include what to do when an infant or toddler is first diagnosed, the impact on the family and an international perspective on how different cultures perceive the syndrome.

  • Presents up-to-date diagnostic and treatment approaches for Fragile X syndrome and other premutation disorders, including FXTAS, FXPOI and FXAND
  • Summary of new beneficial treatments from a molecular/neurobiological standpoint
  • Practical clinical strategies for managing both behavioural and medical aspects of the syndrome
  • Explores the unique effects of the disorder on women


This book will be of interest  to Paediatricians, Paediatric Neurologists, Allied Health Professionals and families.

From the Foreword

“This book is an essential addition to the existing literature, offering a wealth of information on all clinical and molecular aspects of the Fragile X syndrome mutation in one place.”

Professor Frank Kooy, University of Antwerp, Edegem, Belgium

Clinics in Developmental Medicine