Fragile X Syndrome: Diagnosis, Treatment, and Research

Front Cover
Randi Jenssen Hagerman, Paul J. Hagerman
JHU Press, May 17, 2002 - Medical - 540 pages

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.

 

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Świetne opracowanie. Bardzo konkretne informacje o funkcjonowaniu osób z zespołem łamliwego chromosomu X.Adresowana do specjalistów.

Contents

The Physical and Behavioral Phenotype
3
The Molecular Biology of the Fragile X Mutation
110
Epidemiology
136
FMR1 Protein Studies and Animal Model for Fragile X Syndrome
169
Brain Structure and the Functions of FMR1 Protein
191
Neuropsychology
206
Treatment and Intervention
249
Genetic Counseling
251
An Integrated Approach to Intervention
363
Academic Interventions
428
FMR1 Gene Expression and Prospects for Gene Therapy
465
General Information about Fragile X Syndrome
495
Computer Software Information
501
Learning Materials and Equipment
514
Toilet Training the Child with Fragile X Syndrome
527
INDEX
531

Medical Followup and Pharmacotherapy
287
The Treatment of Emotional and Behavioral Problems
339

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Page 492 - Schwarze, SR, Ho, A., Vocero-Akbani, A., and Dowdy, SF (1999) In vivo protein transduction: delivery of a biologically active protein into the mouse.

About the author (2002)

Randi Jenssen Hagerman, M.D., is Tsakopoulos-Vismara Professor of Pediatrics at the M.I.N.D. Institute in Sacramento, California. Paul J. Hagerman, M.D., Ph.D., is a professor in the Department of Biological Chemistry at the University of California, Davis.

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