Fragile X Syndrome

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.

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 2003

• 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