Fragile X Syndrome and Premutation Disorders – Chapter 1: Overview of FXS and Fragile X Spectrum Disorders (free ebook)

New Developments and Treatments

Product Type: PDF (Sub-Section of Book)

Series: Clinics in Developmental Medicine

Edition: 1st

Publication date: November 2020

Page count: 27

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Chapter 1 – Overview of FXS and Fragile X Spectrum Disorders from Fragile X Syndrome and Premutation Disorders: New Developments and Treatments

About the Complete book

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

Why not?

Randi J Hagerman (Editor)

Randi J. Hagerman

Randi J Hagerman, M.D., FAAP, is a Distinguished Professor of Pediatrics at the University of California Davis Medical Center and Director of the Fragile X Research and Treatment Center at the MIND Institute and holds an Endowed Chair in Fragile X Research. Dr Hagerman is a developmental and behavioral pediatrician and has studied patients with fragile X syndrome (FXS), autism (ASD), and other neurodevelopmental disorders. She has carried out numerous targeted treatment studies in FXS and autism. She and her husband and team have published extensively regarding fragile X premutation disorders including the first description of FXTAS in 2001. She co-founded the National Fragile X Foundation in 1984 and has been involved in targeted treatments for fragile X syndrome, autism, and FXTAS for several years. Dr Hagerman has written over 400 peer-reviewed articles and several books on fragile X and autism.

Paul J Hagerman (Editor)

Paul J. Hagerman

Paul J Hagerman is a molecular geneticist whose interest in neurodevelopmental and neurodegenerative diseases is focused on fragile X-associated disorders. In 2001, Drs. Hagerman discovered the neurological disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), which affects “premutation” carriers of the fragile X (FMR1) gene, one of the most common single-gene neurodegenerative disorders. The Hagerman lab also discovered the mRNA dysregulation that underlies the pathogenesis of FXTAS; the lab has since helped to identify the core molecular processes underpinning FXTAS. The Hagerman lab has published the first systematic investigation of the relationship between the fragile X protein (FMRP) and IQ.

  • Complete book contents
  • 1. Overview of FXS and Fragile X Spectrum Disorders
  • Randi J Hagerman
  • 2. Autism Spectrum Disorders and Fragile X Syndrome: Intertwined and Guiding Interventions
  • Leonard Abbeduto, Angela John Thurman and Jenniffer Villarreal
  • 3. The Diagnosis of Fragile X syndrome: New Advances, Population Screening and Cascade Testing
  • Mittal J Jasoliya and Flora Tassone
  • 4. Molecular Advances in Fragile X Syndrome and Fragile X-associated Disorders
  • Jamie L Randol, Malgorzata Bzymek and Paul J Hagerman
  • 5. Medical, Psychopharmacological and Targeted Treatment for FXS
  • Randi J Hagerman, Dragana Protic and Elizabeth M Berry-Kravis
  • 6. Behavioral Interventions to Improve Tantrums, Aggressions, Anxiety, and Mood Instability
  • Karen Riley, Andrea Schneider, David Hessl and Marcia L Braden
  • 7. Women’s Issues in Fragile X Spectrum Disorders
  • Jessica Ezzell Hunter, Anne C Wheeler, Emily Graves Allen, Kaitlyn Wald, Aleksandar Rajkovic, Randi J Hagerman and Stephanie L Sherman
  • 8. FXTAS: New Advances and Treatments
  • Verónica Martínez-Cerdeño, Jun Yi Wang, Jim Grigsby, Deborah Hall and Randi J Hagerman
  • 9. My baby has just been diagnosed with Fragile X Syndrome: What is there to know?
  • Susan M Rivera, Jane E Roberts, Anne C Wheeler and Randi J Hagerman
  • 10. Academic Intervention and Therapies for Children with FXS
  • Kerrie Lemons Chitwood, Laura Greiss Hess, María Diez-Juan and Marcia Braden
  • 11. International Perspective on Identification and Treatment of Fragile X Syndrome and Associated Disorders
  • Suma Shankar, Tri Indah Winarni, Weerasak Chonchaiya, Gry Hoem, Angel Belle C Dy, Lourdes Sumpaico-Tanchanco, Aruna Gowdra, Maria Jimena Salcedo-Arellano and Wilmar Saldarriaga
  • 12. Parent Advocacy and Establishing an International Parent Support Organization
  • Robert M Miller, Jayne Dixon Weber and Elizabeth M Berry-Kravis

Supplemental Material: Behavior Intervention Plan Worksheet

Provided as an Appendix to the book and as a PDF download.

'Randi and Paul Hagerman provide a timely and comprehensive update. The book covers both clinical and molecular aspects, and extends both across the spectrum of fragile X-associated disorders and also the life course, from preconception and newborn infant screening to late-onset disorders. It is aimed primarily at clinicians and researchers, with some chapters being relatively technical in presentation. But there are also parts that will be useful for educators and families who are seeking an in-depth understanding of fragile X and premutation disorders. It is at its best when dealing with the practical management and treatment aspects of fragile X disorders, as this information is not readily accessible from the published literature.' David J Amor, Developmental Medicine & Child Neurology, 2020