Book Review

Fragile X Syndrome: Diagnosis, Treatment, and Research

N Engl J Med 1993; 328:146January 14, 1993

Article

Fragile X Syndrome: Diagnosis, Treatment, and Research
(Johns Hopkins Series in Contemporary Medicine and Public Health.) Edited by Randi Jenssen Hagerman and Amy Cronister Silverman. 378 pp., illustrated. Baltimore, Johns Hopkins University Press, 1991. $85. ISBN: 0-8018-4169-0

In the 10-year period from the elucidation of the clinical picture of the X-linked form of mental retardation associated with a fragile X chromosome to the publication of this book, it has become apparent that the fragile X syndrome is the most common inherited form of mental retardation. Thus, a book dealing with this disorder, which is associated with an unusual pattern of inheritance, is an appropriate addition to the literature. It contains 11 chapters by 17 authors and is divided into two parts: “Diagnosis and Research” and “Treatment and Intervention.” The book is well organized and well written, but it suffers from the fact that molecular discoveries made since the chapters were written now permit diagnosis of the syndrome by direct DNA analysis. An editors' note has been added at the end of the chapter on cytogenetics regarding the sequencing of the fragile X mental-retardation gene (FMR-1) and a “Note Added in Proof” has been appended to the chapter on molecular biology.

The lack of information about recent molecular advances notwithstanding, the clinical and cytogenetic material in this book is excellent and provides a strong background for physicians and students. The proposed model for the inheritance and expression of the fragile X syndrome, based on the X-inactivation imprinting model of Charles D. Laird and colleagues, is well presented and intriguing.

Of the seven chapters in part I, covering diagnosis and research, one is devoted to other disorders characterized by X-linked mental retardation and includes a review of 33 syndromes. Although this chapter is potentially useful for the diagnostic workup of mentally retarded males with a possible X-linked mental-retardation syndrome other than fragile X, its inclusion in a book devoted to the fragile X syndrome is, in my opinion, questionable.

Part II, on treatment and intervention, will be useful for anyone who deals with or cares for patients with the fragile X syndrome and their families. Genetic counseling for families is complex and difficult, and the chapter by Silverman presents an excellent approach to the subject; however, it too needs to be updated by the inclusion of the new molecular information and its applications. The chapter on medical follow-up and pharmacotherapy and that on the treatment of behavioral and emotional problems are comprehensive guides to the problems of affected persons.

The chapter entitled “An Integrated Approach to Intervention” points out the need for additional research in this area, but the information presented can be extremely useful to professionals involved in educational interventions from infancy, childhood, and late adolescence through adulthood.

Although the editors and authors are unwitting victims of a rapidly evolving field, 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.

Lawrence R. Shapiro, M.D.
New York Medical College, Valhalla, NY 10595