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Child Adolesc Psychiatr Clin N Am. 2007 Jul;16(3):631-47.

Social phenotypes in neurogenetic syndromes.

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Department of Child & Adolescent Psychiatry, Lucile Packard Children's Hospital, MC 5719, Stanford, CA 94305, USA.


Many of the known genetically based neurodevelopmental disorders are associated with a distinctive behavioral phenotype. As these behavioral phenotypes have been elucidated by clinical research, distinctive profiles of social traits have emerged as prominent syndromic features. This article reviews social phenotypic findings for fragile X syndrome, Down syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, Turner syndrome, Williams syndrome, and velocardiofacial syndrome. An analysis of these social profiles raises several questions regarding the relationship between identified social impairments and autism and the relationship between social impairments in neurodevelopmental disorders and those found in normative child populations. The unique profile of certain of the known behavioral phenotypes also serves to distinguish several dimensions of sociability that are not readily observed in typical populations.

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