NDLI: Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Tierney, Elaine Conley, Sandra K. Goodwin, Halima Porter, Forbes D.
Description	Country affiliation: United States Author Affiliation: Tierney E ( Department of Psychiatry, Kennedy Krieger Institute, Baltimore, MD, USA.)
Abstract	Smith-Lemli-Opitz syndrome (SLOS) is an inborn error of cholesterol synthesis due to mutations of 7-dehydrocholesterol reductase (DHCR7). DHCR7 catalyzes the reduction of 7-dehydrocholesterol (7DHC) to yield cholesterol in the final step of cholesterol biosynthesis. Phenotypically patients with SLOS have multiple malformations, cognitive deficits, and behavioral difficulties. Impaired DHCR7 activity results in the accumulation of 7DHC and frequently decreased cholesterol in blood and tissues. Dietary cholesterol supplementation has become standard therapy for SLOS, and anecdotal reports suggest rapid, marked clinical improvement of behavior problems. Although reported in the literature, beneficial behavioral effects of dietary cholesterol supplementation have not been formally documented through a randomized clinical trial. To address this we initiated a double-masked, placebo-controlled, cross-over trial to test the hypothesis that dietary cholesterol supplementation has rapid beneficial effects on behavior. Our primary outcome measure was the hyperactivity subscale of the Aberrant Behavior Checklist (ABC). Hyperactivity is a symptom that has been reported to respond rapidly to dietary cholesterol supplementation. Secondary outcome measures included the total ABC score and other ABC subscale scores. Ten subjects completed this study. Although the trial was done under conditions similar to those reported to induce marked behavioral changes in SLOS patients, we observed no differences between treatment and placebo phases. The results of this study call into question anecdotal reports supporting rapid behavioral benefits previously reported for dietary cholesterol supplementation in SLOS and underscore the need for a larger placebo-controlled trial.
File Format	HTM / HTML
ISSN	15524825
e-ISSN	15524833
DOI	10.1002/ajmg.a.33148
Journal	American Journal of Medical Genetics Part A
Issue Number	1
Volume Number	152A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-01-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Genetics Cholesterol, Dietary Administration & Dosage Mental Disorders Diet Therapy Smith-lemli-opitz Syndrome Adolescent Child, Preschool Cross-over Studies Double-blind Method Oxidoreductases Acting On Ch-ch Group Donors Genetics Metabolism Placebos Psychology Research Support, N.i.h., Intramural Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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