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Fragile X Syndrome - Diagnosis, Treatment and Research
  1. John Tolmie

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    Third edition. Editors Randi Jenssen Hagerman, Paul J Hagerman. £65.50 HB, £31.00 PB. Baltimore: The Johns Hopkins University Press. 2002. ISBN 0-8018-6844-0.

    This is the third edition of a book that is already well known to clinical geneticists and genetic counsellors. Probably, just as many scientists from the cytogenetic and DNA laboratories are familiar with the title. The first edition was printed in 1991, at the same time that the mutation that causes fragile X syndrome was identified. When the second edition appeared in 1996, much more could be written about the gene product, FMRP. Advances in understanding molecular and cellular changes in fragile X syndrome have proceeded, but in smaller increments in more specialised fields. The neuroscientific aspects of the syndrome are thus allotted more space in this new edition and, perhaps related to this, there has been an editor substitution with Paul Hagerman, spouse of Randi and molecular arm of the husband-wife collaboration, replacing Amy Cronister, who continues to make a major contribution co-authoring the chapter on genetic counselling.

    To make room for new information on neuroscience, the chapter on cytogenetics of fragile X syndrome has been cut but, really, this omission should be regarded as a sound reason for retaining the second edition on the bookshelf. Happily, the opening chapter by Randi Hagerman is not shortened as it contains a wealth of clinical information including perfect illustrations of macro-orchidism and the value of a Prader orchidometer. Older geneticists may wistfully recall epic estimations of testicular volume in burly men pre-1991, but new trainees need only gaze in astonishment at these pictures and perhaps give silent thanks for the trinucleotide repeat.

    The essays in this edition also provide a good illustration of how one dramatic discovery, the CGG expansion, clarifies much that was previously perplexing, but also leads to many more complex questions being posed. Ted Brown’s very clear chapter on the molecular biology of the fragile X mutation sits alongside Stephanie Sherman’s fascinating account of the syndrome’s epidemiology, but self-congratulatory feelings about one’s adult learning capacity are then dashed by detailed state of play reviews of protein studies, an animal model, and the brain structural phenotype. After this, a review of the neuropsychology of the syndrome brought home to me the importance of a technical approach to the definition of behavioural phenotypes, and wound up the first half of the book.

    In the second half, essays explore treatment options and give practical advice on dealing with learning difficulties and troublesome behaviours. Much of the best advice is of a general nature and is not specific to the management of children with fragile X syndrome. The chapter on drug therapies will also be of interest to the paediatrician or specialist in learning disability who supervises clinical management. The accounts of academic and psychological interventions that may improve quality of life for affected subjects and their families contain much information that is of value to teachers and therapists. To close, there are useful appendices with web and e-mail addresses for general information, educational software, and other helpful resources.

    In summary, this is a book that may be read by the fireside; especially pleasing are the many paragraphs that supply historical background to major discoveries about the syndrome, but the book’s main use is for reference purposes. Quite simply, it should always be consulted when considering clinical problems.

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