Challenging Behavior in Smith-Lemli-Opitz Syndrome: Initial Test of Biobehavioral Influences

Overview

Journal Cogn Behav Neurol

Specialty Psychology

Date 2013 Mar 30

PMID 23538569

Citations 6

Authors

Kurt A Freeman

Rose Eagle

Louise S Merkens

Darryn Sikora

Kersti Pettit-Kekel

Mina Nguyen-Driver

Robert D Steiner

Affiliations

Soon will be listed here.

Abstract

Objective: To study challenging behavior (destruction, aggression, self-injury, stereotypy) in children with Smith-Lemli-Opitz syndrome (SLOS) using a biobehavioral model that helps distinguish biological from socially mediated variables influencing the behavior.

Background: SLOS is an autosomal-recessive syndrome of multiple malformations and intellectual disability resulting from a genetic error in cholesterol synthesis in all cells and tissues, including brain. The exact cause of the challenging behavior in SLOS is unclear, but defective brain cholesterol synthesis may contribute. Because the precise genetic and biochemical etiology of SLOS is known, this disorder is a good model for studying biological causes of challenging behavior.

Method: In a preliminary application of a biobehavioral model, we studied the association between cholesterol levels (as a biochemical indicator of disease severity) and behavior subtype ("biological" vs "learned") in 13 children with SLOS. Parents completed a questionnaire that categorized challenging behavior as influenced primarily by social or nonsocial (thus, presumably biological) factors.

Results: The severity of the cholesterol synthesis defect correlated significantly with behavior subtype classification for 1 of 2 challenging behaviors. Greater severity of the cholesterol synthesis defect was associated with behavior being classified as primarily influenced by biological factors.

Conclusion: The interplay between challenging behavior and defective cholesterol synthesis in SLOS may help explain biological influences on the behavior. Our findings have implications for research on the effectiveness of behavioral and medical treatments for behavioral difficulties in SLOS and other neurodevelopmental disorders.

Citing Articles

Biochemical and Clinical Effects of Vitamin E Supplementation in Hungarian Smith-Lemli-Opitz Syndrome Patients.

Koczok K, Horvath L, Korade Z, Mezei Z, Szabo G, Porter N Biomolecules. 2021; 11(8).

PMID: 34439893 PMC: 8393612. DOI: 10.3390/biom11081228.

A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome.

Freeman K, Olufs E, Tudor M, Roullet J, Steiner R J Dev Behav Pediatr. 2016; 37(5):424-30.

PMID: 27244299 PMC: 4890614. DOI: 10.1097/DBP.0000000000000317.

Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update.

Thurm A, Tierney E, Farmer C, Albert P, Joseph L, Swedo S J Neurodev Disord. 2016; 8:12.

PMID: 27053961 PMC: 4822234. DOI: 10.1186/s11689-016-9145-x.

Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome.

Bianconi S, Cross J, Wassif C, Porter F Expert Opin Orphan Drugs. 2015; 3(3):267-280.

PMID: 25734025 PMC: 4343216. DOI: 10.1517/21678707.2015.1014472.

Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of disease.

Platt F, Wassif C, Colaco A, Dardis A, Lloyd-Evans E, Bembi B Annu Rev Genomics Hum Genet. 2014; 15:173-94.

PMID: 25184529 PMC: 6292211. DOI: 10.1146/annurev-genom-091212-153412.

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