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Behavioral phenotype of smith-magenis syndrome (del 17p11.2)

✍ Scribed by Smith, Ann C.M.; Dykens, Elizabeth; Greenberg, Frank

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 40 KB
Volume: 81
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980328)81:2<179::aid-ajmg10>3.0.co;2-e

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✦ Synopsis

Smith

-Magenis syndrome (SMS) is a distinct and clinically recognizable multiple congenital anomaly (MCA) and mental retardation syndrome caused by an interstitial deletion of chromosome l7 p11.2. The phenotype of SMS has been well described and includes: a characteristic pattern of physical features; a hoarse, deep voice; speech delay with or without associated hearing loss; signs of peripheral neuropathy; variable levels of mental retardation; and neurobehavioral problems. Although self-injury and sleep disturbance are major problems in SMS, studies are limited on the behavioral phenotype of SMS. This report reviews the current state of knowledge about SMS and presents new data based on syndromespecific observations by the authors' longitudinal experience working with SMS, specifically related to the behavioral aspects of SMS. This information should have relevance for parents, clinicians, geneticists, and educators involved in the care of individuals with SMS. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 81:179-185, 1998.

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