Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder that causes impairment of cholesterol synthesis and is characterised by physical malformations, mental retardation and behavioural problems.

A recent study found that 75% of 14 children with SLOS also had an autistic spectrum disorder. Since SLOS appears to have the most consistent relationship with autism of any single gene disorder this research suggests a possible link between impaired cholesterol and autism.

Sikora DM, Pettit-Kekel K, Penfield J, Merkens LS, Steiner RD (2006). "The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome". Am J Med Genet A 140 (14): 1511–8.

First published in January 2007

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