Book Review

Neurogenetic Developmental Disorders: Variation of Manifestation in Childhood

N Engl J Med 2008; 358:540-541January 31, 2008

Article

Neurogenetic Developmental Disorders: Variation of Manifestation in Childhood
(Issues in Clinical and Cognitive Neuropsychology.) Edited by Michèle M.M. Mazzocco and Judith L. Ross. 507 pp., illustrated. Cambridge, MA, MIT Press, 2007. $60. ISBN: 978-0-262-13480-4

It is typical for most pediatric or genetic textbooks to present very general information, focusing on brevity to cover a wide variety of topics. What is unusual about Neurogenetic Developmental Disorders is the focus on only some of the many common neurogenetic disorders, with much more attention paid to the developmental and cognitive aspects of these well-known disorders. To accomplish this purpose, the editors have divided the book into three sections: part I, “Common Genetic Disorders: Widely Ranging Outcomes from a Specific Etiology”; part II, “Complex Etiologies and Complex Outcomes”; and part III, “Reactions and Responses: Beyond the Diagnosis.”

The book is not meant to be a diagnostic algorithm of neurogenetic diseases, and therefore it will not help clinicians in reaching a differential diagnosis for neurogenetic and developmental disorders. Once a diagnosis is determined, however, this book will be a valuable resource for developmental pediatricians, geneticists, pediatric neurologists, and generalists who need to provide for the long-term care and education of these children. In part I, common chromosomal disorders such as Turner's syndrome and Klinefelter's syndrome are discussed, but with an emphasis on the neurodevelopmental, behavioral, and educational problems that children and adults with these disorders are likely to have. A well-known genetic disease, Duchenne's muscular dystrophy, is discussed in this section, with the same emphasis on cognitive function instead of on detailing the musculoskeletal aspects. There are also excellent discussions of the neuropsychiatric aspects of other genetic conditions — such as the fragile X syndrome, Williams syndrome, and the velocardiofacial syndrome (a 22q11.2 deletion) — with practical suggestions for management. Since the book is not intended to be an encyclopedia of neurodevelopmental disorders, some common diseases, such as Prader–Willi syndrome, regrettably were not included in this section.

Part II of the book unfortunately does not live up to part I. The chapter on inborn errors of metabolism, for example, covers a large list of metabolic diseases — mostly disorders of amino acids, intermediate metabolism, fatty acid disorders, and mitochondrial diseases — but does not contain a substantial discussion of lysosomal or peroxisomal disorders. The neurocognitive aspects of metabolic diseases are not given the same attention that other diseases receive in many of the previous chapters. It might have been more helpful for the authors to concentrate on a few of these disorders, such as Smith–Lemli–Opitz syndrome, and to delve into their cognitive and neurodevelopmental aspects. The chapter on heavy metal exposure synthesizes very useful information concerning the cognitive aspects of lead intoxication and also gives some information about exposure to other heavy metals.

A unique aspect of this book is the discussion that occurs in part III. The chapters in this section give more practical information that can be very useful in dealing with the complex social and educational issues of children with cognitive problems that are caused by neurodevelopmental disorders. These chapters discuss the adaptation that occurs in patients and families when a diagnosis of mental retardation or a learning disability is given. Also included in this part of the book is advice on the psychosocial aspects of addressing abnormal behaviors and on maneuvering through the complex maze of development testing. Finally, the concept of an individual educational plan is described in detail, with a pragmatic approach to dealing with educational systems and schools.

Overall, this book fills a niche in the field of neurodevelopmental disorders, and although it does not include every disorder or provide information on every aspect of this diverse field, it is a practical guide for the management of many well-known neurogenetic disorders.

Edward M. Kaye, M.D.
Children's Hospital Boston, Boston, MA 02115