Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome.
作者： Elaine Tierney , Ngozi A. Nwokoro , Forbes D. Porter , Lisa S. Freund , Jaswinder K. Ghuman
DOI: 10.1002/1096-8628(20010115)98:2<191::AID-AJMG1030>3.0.CO;2-M
关键词: Temperament 、 Osteochondrodysplasia 、 Behavior disorder 、 Phenotype 、 Endocrinology 、 Smith–Lemli–Opitz syndrome 、 Internal medicine 、 Sleep disorder 、 Audiology 、 Autism 、 Medicine 、 Metabolic disorder
摘要: The behavior phenotype of Smith-Lemli-Opitz syndrome (SLOS) was studied by assessing behavior, social, and communication abilities, sensory hyperreactivity, the deficits associated with autistic disorder. Fifty-six SLOS subjects, age 0.3 to 32.3 years, were evaluated multiple age-dependent questionnaires telephone interviews. Of 56 50 (89%) had a history repeated self-injury: 30 (54%) bit themselves; 27 (48%) head-banged; threw themselves backward in highly characteristic upper body movement ("opisthokinesis"). Forty-seven these subjects also direct observation interview parent or caregiver. 11 10 years older, three (27%) stereotypic stretching motion accompanied hand flicking. Additional measures showed temperament dysregulation, sleep disturbance, social deficits. Nine 17 (53%) met diagnostic criteria for disorder Autism Diagnostic Interview-Revised (ADI-R) algorithm questions [Lord et al., 1993, 1994]. Thus, is metabolic that can be autism other behavioral characteristics define distinctive diagnostically important
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