Fragile X Syndrome and Premutation Disorders Hagerman

Fragile X Syndrome and Premutation Disorders (Coming Soon!)

New Developments and Treatments

Product Type: Print Edition (Complete Book)

ISBN: 9781911612377

Randi J Hagerman (Editor), Paul J Hagerman (Editor)

Series: Clinics in Developmental Medicine

Edition: 1st

Publication date: October 2020

Page count: 176

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Fragile X Syndrome results from a gene mutation on the X-chromosome that lead to various developmental problems such as intellectual disabilities and cognitive impairment.

The main focus of this book is to help clinicians understand a multidisciplinary treatment approach and to give the best possible care to patients. It covers both molecular and clinical aspects of Fragile X Syndrome and other premutation disorders so that new targeted treatments can be understood. Unique features include what to do when your baby or toddler is diagnosed, issues in women, the impact on family and an international perspective on how different cultures deal with the syndrome.

  • The international team of experts present up-to-date diagnostic and treatment approaches for those with Fragile X Syndrome and its premutation disorders
  • Summaries of new treatments indicate why these interventions are beneficial from a molecular or neurobiological standpoint and guide the primary health care provider to appropriate treatment
  • Practical clinical strategies, that include behavioural and medical treatment information, enable clinicians to improve the care of children and adults with these conditions
  • Covers all premutation disorders including FXTAS, FXPOI and FXAND


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

Clinics in Developmental Medicine

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.

  • 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