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  1. K. A. Freeman,
  2. D. Sikora,
  3. R. D. Steiner
  1. Departments of Pediatrics and Molecular & Medical Genetics and the Child Development and Rehabilitation Center, Oregon Health & Science University, Portland, OR


Smith-Lemli-Optiz syndrome (SLOS) is a multiple malformation, mental retardation syndrome caused by a defect in cholesterol metabolism. Aberrant behavior reportedly occurs in many patients with SLOS, including irritability, hyperactivity, aggressive behavior, self-injury, insomnia/sleep disturbances, and behavioral symptoms of autism, based primarily on anecdotal report. We studied aberrant behavior in SLOS using several measures, two with sound psychometric properties. We hypothesized that participants would display varied and significant behavioral disturbances. Parents of children with SLOS (ages 2-16) completed behavioral measures to document aberrant behavior. As part of the study protocol, measures are completed while patients receive continuous cholesterol supplementation and after a 3-week period of a cholesterol-free diet. Only data obtained during cholesterol supplementation are presented. The Child Behavior Checklist, a measure of emotional/behavioral disturbance normed with typical children, was completed on 14 children. Significant elevations on syndrome factors were noted for 8 (57%) children. The average number of factors elevated was 2.3. Parents of 10 children completed the Nisonger Child Behavior Rating Form, a measure of emotional/behavioral disturbance normed for children with neurodevelopmental disabilities. Two participants received ratings in the significant range, in the area of Self-Injury/Stereotypic Behavior. Care providers of 11 children completed a measure designed to gather data on the type and form of aberrant behavior in those with neurodevelopmental disabilities. Mean number of aberrant behavior reported as occurring during the month prior to assessment was 10.1. Mean number of different forms of self-injury = 3.5, stereotypic behavior = 3.9, physical aggression = 2.3, and disruptive/destructive behavior = 3.8. Findings confirm that children with SLOS experience significant emotional/behavioral behavior as compared to the general population but suggest that most may not display more frequent/severe aberrant behavior than expected in children with neurodevelopmental disorders. Future plans include continued evaluations longitudinally, to correlate behavior with developmental trajectory; comparison of aberrant behavior in SLOS against a control group, to investigate the uniqueness of the SLOS behavioral phenotype; and evaluation while participants are on and off high-cholesterol diets, to systematically investigate the effect of the intervention on aberrant behavior in SLOS.

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