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Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome

✍ Scribed by Tierney, Elaine ;Nwokoro, Ngozi A. ;Kelley, Richard I.

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 107 KB
Volume: 6
Category: Article
ISSN: 1080-4013
DOI: 10.1002/1098-2779(2000)6:2<131::aid-mrdd7>3.0.co;2-r

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✦ Synopsis

Smith-Lemli-Opitz syndrome (SLOS, RSH/SLO syndrome, MIM 270400) is an autosomal recessive multiple malformation/mental retardation syndrome initially described by Smith et al. [1964] that is due to a defect in cholesterol biosynthesis. The behavioral phenotype of Smith-Lemli-Opitz syndrome demonstrates cognitive abilities from borderline intellectual functioning to profound mental retardation, sensory hyperreactivity, irritability, language impairment, sleep cycle disturbance, self-injurious behavior, and autism spectrum behaviors. In a recent study of 28 subjects, 14 subjects (50%) with SLOS also exhibited the behavior of throwing themselves backward in a characteristic upper body movement ("opisthokinesis") and 2 adolescents had a stretching motion of the upper body accompanied by hand flicking [Tierney et al., 1999]. In that same study, 6 of 13 subjects (46%) met the Autism Diagnostic Interview-Revised (ADI-R) algorithm criteria (Lord et al. [1993] Infant Mental Health 14:234 -252;Lord et al. [1994] J Autism Dev Disord 24:659 -685) and the Diagnostic and Statistical Manual (APA [1994] DSM-IV) diagnostic criteria for autistic disorder. Smith-Lemli-Opitz syndrome is a metabolic disorder that is associated with autism.

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