Harriet S.MeyerMD, Contributing EditorDavid H.MorseMS, Journal Review EditorRobertHoganMD, adviser for new media
Five years ago I reviewed the second edition of this book. That edition was a thorough, textbook-type publication that also provided stimulating opinions about treatment, education, and general care of patients, male and female, with fragile X syndrome (FXS). This third edition features rewritten and improved chapters with updated information and references.
The new edition also includes three new chapters, one on the neurobiology of FXS entitled "Brain Structure and the Functions of FMR1 Protein," a second on academic interventions for affected children, and a third on gene expression, "FMR1 Gene Expression and Prospects." This last, by coeditor Dr Paul Hagerman, includes captivating theories on treatment of FXS patients using molecular techniques and gene therapy. My favorite part of the book, the chapter clarifies and reviews gene mechanisms and presents several fascinating opinions and theories on the prospect of gene therapy for FXS. Admittedly the neurobiology and gene expression chapters are academically esoteric and not helpful for diagnosis and clinical management and would probably be of limited interest to most physicians and other nonmedical buyers.
Fragile X Syndrome: Fragile X Syndrome: Diagnosis, Treatment and Research. JAMA. 2002;288(20):2615–2616. doi:10.1001/jama.288.20.2615-JBK1127-2-1
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