J Neuropsychiatry Clin Neurosci 17:91-97, February 2005
© 2005 American Psychiatric Press, Inc.
The Neuropsychiatry and Multisystem Features of the Smith-Magenis Syndrome: A Review
Bhaskara P. Shelley, M.B.B.S., M.D., D.M. and
Mary M. Robertson, M.B.Ch.B., M.D., D.P.M., M.R.C.P., M.R.C.P.H., F.R.C.Psych.
Received November 19, 2002; revised April 21, 2003; accepted May 15, 2003. From the University College London, Department of Psychiatry and Behavioural Sciences, Royal Free and University College Medical School, University College London, United Kingdom. Address correspondence to Dr. Robertson, Wolfson Bldg., 48 Riding House St., London W1N 8AA, U.K.; m.robertson{at}ucl.ac.uk (E-mail).
Smith-Magenis Syndrome (SMS) is a complex, pediatric, neurobehavioral, contiguous gene syndrome ascribed to interstitial microdeletion of chromosome 17, band 11.2. The syndrome is characterized by distinctive behavioral, neurocognitive, and neuropsychiatric abnormalities. This genetically mediated disorder of mental retardation prompts behavioral researchers to examine the links between genes, brain, and behavior in order to solve the gene-behavior puzzle and the genotype/phenotype correlation. In this article, the authors review literature on behavioral profile and its associated psychopathologies, cognitive profiles, multisystem abnormalities, and genetic correlates that highlight the complexities of the disorder.
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