
Fragile X Syndrome
Diagnosis, Treatment, and Research
Johns Hopkins University Press
3rd Edition
Published on 12. July 2002
Book
Paperback/Softback
552 pages
978-0-8018-6844-3 (ISBN)
Description
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.
Reviews / Votes
This useful and unique book can be used as a reference for specific issues related to fragile X, as an overview of particular topics, and as a comprehensive review of all of the various aspects of this condition. -- William O. Walker, Jr. Doody's Health Sciences Review Includes updated chapters on the cytogenetic and molecular biology of the FXS mutation and premutation. The first half addresses the diagnosis and research aspects and is well referenced. The latter half is dedicated to treatment and intervention. The chapter that emphasizes an integrated approach to intervention could easily qualify for continuing medical education credit. Journal of the American Medical Association This book should sit on the library shelves of clinical geneticists. It is well written, well referenced, and should become well thumbed. Journal of Medical Genetics Answers nearly all the questions that parents or clinicians might raise about fragile X syndrome... Can be recommended confidently as a thoroughly up-to-date, reliable, and informative account of the condition. The Lancet The clinical and cytogenetic material in this book is excellent and provides a strong background for physicians and students... Fragile X Syndrome still presents the best comprehensive treatment of this complex disorder. Physicians, students, and other interested professionals can either read this book from cover to cover or select the chapters that interest or apply to them. New England Journal of Medicine This useful and unique book can be used as a reference for specific issues related to fragile X, as an overview of particular topics, and as a comprehensive review of all of teh various aspects of this condition. -- William O. Walker, Jr.MD Doody's Book Reviews I strongly encourage genetic counselors and clinical geneticists to invest in a copy of this book. It is an invaluable resource on all aspects of Fragile X syndrom from genetic counceling, molecular testing, and prenatal diagnosis, to the latest treatment, education, and interventional strategies. When searching for up-to-date information on Fragile X syndrom, this book constitutes as one-stop-shopping. -- Barbara Pettersen Journal of Genetic Counseling This book is essential on the desk of everyone committed to the care of fragile X patients and to the research of the fascinating syndrome. Human GeneticsMore details
Edition
third edition
Language
English
Place of publication
Baltimore, MD
United States
Target group
College/higher education
Professional and scholarly
Edition type
Revised edition
Product notice
Paperback (trade)
Illustrations
29 s/w Photographien bzw. Rasterbilder, 21 s/w Zeichnungen
21 Line drawings, black and white; 29 Halftones, black and white
Dimensions
Height: 228 mm
Width: 154 mm
Thickness: 30 mm
Weight
730 gr
ISBN-13
978-0-8018-6844-3 (9780801868443)
DOI
10.56021/9780801868436
Copyright in bibliographic data and cover images is held by Nielsen Book Services Limited or by the publishers or by their respective licensors: all rights reserved.
Schweitzer Classification
Other editions
Additional editions

Book
07/2002
3rd Edition
Johns Hopkins University Press
€128.50
Article not available for order
Previous edition
Randi Jenssen Hagerman | Amy Cronister Silverman
The Fragile X Syndrome
Diagnosis, Treatment and Research
Book
06/1996
2nd Edition
Johns Hopkins University Press
€59.62
Article exhausted; check for reprint
Persons
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.
Content
Contents: List of Contributors Preface to the Third Edition I Diagnosis and Research 1 The Physical and Behavioral Phenotype - Randi Jenssen Hagerman 2 The Molecular Biology of the Fragile X Mutation - W. Ted Brown 3 Epidemiology - Stephanie Sherman 4 FMR1 Protein Studies and Animal Model for Fragile X Syndrome - Ben. A. Oostra and Andre T. Hoogeveen 5 Brain Structure and Functions of FMR1 Protein - Scott Irwin, Roberto Galvez, Ivan Jeanne Weiler, Andrea Beckel-Mitchener, and William Greenough 6 Neuropsychology - Loisa Bennetto and Bruce F. Pennington II Treatment and Intervention 7 Genetic Counseling - Louise W. Gane and Amy Cronister 8 Medical Follow-up and Pharmacotherapy 9 The Treatment of Emotional and Behavioral Problems - Jennifer L. Hills Epstein, Karen Riley, and William E. Sobesky 10 An Integrated Approach to Intervention - Sarah Scharfenaker, Rebecca O'Connor, Tracy Stackhouse, Marcia L. Braden, and Kristen Gray 11 Academic Interventions - Marcia L. Braden 12 FMRI Gene Expression and Prospects for Gene Therapy - Paul J. Hagerman Appendix 1: General Information about Fragile X Syndrome - Susan Harris Appendix 2: Computer Software Information - Andrew Halpern, Lisa Nobel, and Kristen Gray Appendix 3: Learning Materials and Equipment - Andrew Halpern, Sarah Scharfenaker, Rebecca O'Connor, Tracy Stackhouse, Marcia L. Braden, and Kristen Gray Appendix 4: Toilet Training the Child with Fragile X Syndrome - Franci Crepeau-Hobson and Rebecca O'Connor INDEX