Article
Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome.
American journal of medical genetics - 15 Jan 2001
Tierney E, Nwokoro N A, Porter F D, Freund L S, Ghuman J K, Kelley R I
Abstract excerpt
The behavior phenotype of Smith-Lemli-Opitz syndrome (SLOS) was studied by assessing behavior, social, and communication abilities, sensory hyperreactivity, and the deficits associated with autistic disorder. Fifty-six SLOS subjects, age 0.3 to 32.3 years, were evaluated by multiple age-dependent questionnaires and telephone interviews. Of the 56 subjects, 50 (89%) had a history of repeated self-injury: 30 (54%)...
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