Behavioral phenotype of RSH/Smith Lemli-Opitz syndrome

Smith-Lemli-Opitz syndrome (SLOS, RSH/SLO syndrome, MIM 270400) is an autos omal recessive multiple malformation/mental retardation syndrome initially described by Smith et al. [1964] that is due to a defect in cholesterol bio synthesis. The behavioral phenotype of Smith-Lemli-Opitz syndrome demonstra tes cognitive abilities from borderline intellectual functioning to profoun d mental retardation, sensory hyperreactivity, irritability, language impai rment, sleep cycle disturbance, self-injurious behavior, and autism spectru m behaviors. In a recent study of 28 subjects, 14 subjects (50%) with SLOS also exhibited the behavior of throwing themselves backward in a characteri stic upper body movement ("opisthokinesis") and 2 adolescents had a stretch ing 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 Me ntal 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 cr iteria for autistic disorder. Smith-Lemli-Opitz syndrome is a metabolic dis order that is associated with autism. (C) 2000 Wiley-Liss, Inc.