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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.
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.
This book should sit on the library shelves of clinical geneticists. It is well written, well referenced, and should become well thumbed.
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 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.
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.
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.
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.
About
Book Details
Publication Date
Status
Available
Trim Size
6
x 9
Pages
552
ISBN
9780801868443
Illustration Description
29 halftones, 21 line drawings
Subject
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
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
