Auteur : Hagerman, Randi Jenssen 1949- / Hagerman, Paul J.

Édition : 3rd edition

Maison d'édition : Johns Hopkins University Press

Date de publication : 2002

Collation : xii, 540 p. : ill.

ISBN : 0801868440

Langue : Anglais

Table des matières : I : Diagnosis and research
1. The physical and behavioral phenotype -- 2. The molecular biology of the Fragile X mutation -- 3. Epidemiology -- 4. FMR1 protein studies and animal model for Fragile X Syndrome -- 5. Brain structure and the functions of FMR1 protein -- 6. Neuropsychology
II : Treatment and intervention
7. Genetic counseling -- 8. Medical follow-up and pharmacotherapy -- 9. The treatment of emotional and behavioral problems -- 10. An integrated approach to intervention -- 11. Academic interventions -- 12. FMR1 gene expression and prospects for gene therapy

Résumé : Fragile X syndrome is the most common inherited form of mental retardation. Now substantially revised and updated, this acclaimed book discusses the clinical approach to diagnosing the disorder, supported by the latest research in epidemiology, molecular biology and genetics, and neuropsychology. It also presents information on treatment: genetic counseling, pharmacotherapy, intervention, and gene therapy.

Mots-clés : Syndrome de l'X fragile

Cote : QS 677 H144f 2002