The Behavioral Phenotype of Smith-Lemli-Opitz-Syndrome and Other Sterol Disorders

Principal Investigator: Elaine Tierney

The primary goals of this project are to 1) determine the cognitive, social, and communication abilities and to define the behavioral phenotype of a spectrum of genetically and biochemically well-defined patients with Smith-Lemli-Opitz syndrome (SLOS) and other sterol disorders and 2) examine how these behavioral features may correlate with sterol deficits, other metabolic abnormalities. A subgroup of subjects with spoken language are being analyzed with measures related to anxiety and selective mutism