Fragile X Syndrome: Diagnosis, Treatment, and Research / Edition 3

by Randi Jenssen Hagerman MD, Paul J. Hagerman MD PhD

Overview

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.

Product Details

ISBN-13:	9780801868443
Publisher:	Johns Hopkins University Press
Publication date:	05/17/2002
Series:	Johns Hopkins Series in Contemporary Medicine and Public Health
Edition description:	third edition
Pages:	552
Product dimensions:	6.00(w) x 9.00(h) x 1.13(d)
Age Range:	18 Years

About the Author

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.

Table of 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

Editorial Reviews

Reviewer: William O. Walker, Jr., MD (University of Washington School of Medicine)
Description: Last revised in 1996, this book on fragile X syndrome is organized to balance information on diagnosis and research with methods for treatment and intervention. It incorporates a high level of detail, particularly in the chapters on neuropsychology and animal research models of fragile X, and it includes new chapters on neurobiology, treatment programs, academic interventions and gene expression.
Purpose: Fragile X remains the most common genetic cause of mental retardation. As such, a comprehensive and current book will always be needed by a variety of disciplines. The authors' goal is to meet this need by integrating information from a variety of sources, including clinicians, basic scientists, educators, and parents.
Audience: The principal editors, recognized authorities on fragile X, have been actively involved in the clinical and research aspects of the field for over 20 years. The book requires some basic understanding of the syndrome and may not be a best basic, first information source for students. Its integration of educational, medical, and psychological issues extends its value across several disciplines. It uses an evidence-based approach to integrate the latest research information with clinical experience, interspersed with summary recommendations for current and future interventions.
Features: The book uses a multidisciplinary approach to interventions in this population that address educational, behavioral management, and family support concerns. There are comparisons between normal individuals, other populations with mental retardation and the unique characteristics of persons with fragile X. The authors use brief case histories as a method to focus their discussions. A unique characteristic is the discussion of the entire spectrum of fragile X (premutation, full expression) and its impact across an individual's lifespan. Each chapter ends with an extensive list of references, current through 2001. The book includes appendixes addressing Web and print resources on fragile X and educational software.
Assessment: Discoveries since 1996 regarding the molecular basis and impact of this condition certainly warrant this new edition. Its focus moves beyond methods of identification toward treatment interventions and hopes for a future cure. 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.

Doody's Review Service

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

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.

Journal of Genetic Counseling - Barbara Pettersen

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 Genetics

"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

"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

"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

3 Stars from Doody

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.

Lancet

Part one describes the phenotype of fragile X syndrome; reviews the epidemiology of the condition and the associated cytogenetic and molecular findings; and presents research regarding protein studies and the neuropsychology of fragile X syndrome. Part two reviews treatment and intervention, including genetic counseling, medical follow-up, psychopharmacology, psychotherapy, education, occupational therapy, speech and language therapy, and protein and gene therapy. First published in 1991. Some b&w illustrations. Paper edition (unseen), $29.95. Annotation c. Book News, Inc., Portland, OR (booknews.com)

Booknews

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 Genetics

From the Publisher