Fragile X syndrome is one of the main causes of child developmental delay and autism spectrum disorders. A premutated form of the same gene is also the basis for neurological disabilities in adults. This book breaks down the complex science of this genetic disorder and provides the facts and advice that every bewildered parent or professional needs to support individuals with Fragile X syndrome.
This handbook offers a straightforward introduction that clearly explains the condition on both a scientific and practical level. With sections on diagnosis, symptoms and treatment, as well as discussions of various emotional and behavioral considerations, the book covers all aspects Fragile X syndrome, its implications, and the possibilities open to families affected by it. The book demonstrates how with the right therapies progress can be made and emphasizes how music can be used effectively to promote communication, interaction, fine motor skills and responsiveness in children with the condition.
This is an essential reference tool for families of individuals with Fragile X syndrome, as well as therapists and healthcare professionals who are unfamiliar with the condition and looking to find out more.
Table des matières
1. What is Fragile X Syndrome? 2. Understanding Heredity; Genetic Factors and Inheritance. 3. The Common Symptoms of Fragile X Syndrome. 4. Associated Fragile X Syndromes: Primary Ovarian Insufficiency (POI) and Fragile X Associated Tremor/Ataxia Syndrome (FXTAS). 5. Diagnosing Fragile X Syndrome and its Implications. 6. Interventions for Fragile X Syndrome 7. Talking with the Family. Appendices. I. References. II. Associations. III. Weblinks.
A propos de l’auteur
Isabel Fernández Carvajal is a Doctor of Medicine working on the genetic basis of intellectual disability at the Instituto de Biologia y Genetica Molecular (IBGM) at the University of Valladolid, Spain. She has a special interest in Fragile X Syndrome, Autistic Spectrum Disorders and other forms of intellectual disability with genetic origin. David Aldridge is co-director of the Nordoff-Robbins Zentrum, Witten, Germany.
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