title: Behavioral phenotype of RSH/Smith-Lemli-Opitz syndrome.
abstract: 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. MRDD Research Reviews 2000;6:131-134.
authors.affiliation: Department of Psychiatry, Kennedy Krieger Institute, Baltimore, Maryland 21231, USA. Tierney@KennedyKreiger.org
authors.forename: E
authors.initials: E
authors.lastname: Tierney
authors.forename: N A
authors.initials: NA
authors.lastname: Nwokoro
authors.forename: R I
authors.initials: RI
authors.lastname: Kelley
mesh_terms: D000465:Algorithms; D001321:Autistic Disorder / Q000150:complications / Q000175:diagnosis; D001519:Behavior; D002784:Cholesterol / Q000627:therapeutic use; D006801:Humans; D007406:Interview, Psychological; D009043:Motor Activity; D010641:Phenotype; D012678:Sensation Disorders / Q000150:complications; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics / Q000503:physiopathology / Q000523:psychology*
chemical_list: D002784:Cholesterol