Fragile X Syndrome and Premutation Disorders

This book covers both molecular and clinical aspects of Fragile X Syndrome (FXS) and premutation disorders so that new targeted treatments can be understood by clinicians and parents. It covers all premutation disorders including FXTAS, FXPOI and FXAND problems. The main focus is to help clinicians to give the best care possible to patients with FXS and to understand a multidisciplinary treatment approach. Underserved populations such as babies and toddlers with FXS and mothers with the full mutation are highlighted, including the treatments that can be beneficial to them. This book also discuss fragile X associated disorders as they impact the family whose proband has FXS. A highlight of this book is the international perspective on how different cultures deal with FXS and targeted treatments.

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 Villarreala

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