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

Kurt A Freeman; Erin Olufs; Megan Tudor; Jean-Baptiste Roullet; Robert D Steiner

doi:10.1097/DBP.0000000000000317

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

Journal article

Peer reviewed

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

Kurt A Freeman, Erin Olufs, Megan Tudor, Jean-Baptiste Roullet and Robert D Steiner

Journal of developmental and behavioral pediatrics, Vol.37(5), pp.424-430

06/2016

DOI: 10.1097/DBP.0000000000000317

PMCID: PMC4890614

PMID: 27244299

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Abstract

Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic disorder characterized by cholesterol synthesis impairment. A host of physical, developmental, and behavioral presentations are associated with SLOS, many of which have been related with disorder severity. Sleep disturbance is commonly reported in SLOS. This study is the first to examine the association between sleep disturbance and biomarkers of cholesterol synthesis defect. Twenty youth with SLOS participated. Biomarkers of cholesterol synthesis were obtained, including plasma sterols (i.e., 7-dehydrocholesterol, 8-dehydrocholesterol, and cholesterol), mevalonic acid, and 24-S hydroxycholsterol. A ratio of plasma cholesterol precursors to cholesterol levels was used as a measure of biochemical severity. Parents reported their children's sleep problems using the Children's Sleep Habits Questionnaire. Most markers of cholesterol synthesis disruption were associated with overall sleep disturbance. Biochemical severity of SLOS was also associated with specific sleep problems (e.g., decreased sleep duration and increased sleep onset delay) and was identified as a significant predictor of these factors. This study is the first to demonstrate associative relationships between cholesterol levels and sleep disturbance in youth with SLOS. These results add to the current understanding of how cholesterol levels may contribute to the behavioral phenotype of SLOS. These findings may inform future studies related to the role cholesterol synthesis defects play in the behavioral phenotype of SLOS and, subsequently, modalities of intervention for behavioral symptoms.

Cholesterol - blood

Humans

Smith-Lemli-Opitz Syndrome - physiopathology

Child, Preschool

Infant

Male

Rare Diseases

Biomarkers - blood

Pilot Projects

Adolescent

Mevalonic Acid - blood

Sleep Wake Disorders - blood

Smith-Lemli-Opitz Syndrome - blood

Female

Sleep Wake Disorders - physiopathology

Child

Sleep Wake Disorders - etiology

Details

Title: Subtitle: A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome
Creators: Kurt A Freeman - Division of Psychology, Institute on Development and Disability, Oregon Health & Science University, Portland, OR; †Department of Pediatrics, Oregon Health & Science University, Portland, OR; ‡Child Study Center, Yale School of Medicine, New Haven, CT; §Experimental and Systems Pharmacology, Washington State University, Spokane, WA; ‖University of Wisconsin School of Medicine and Public Health, Madison, WI
Erin Olufs
Megan Tudor
Jean-Baptiste Roullet
Robert D Steiner
Resource Type: Journal article
Publication Details: Journal of developmental and behavioral pediatrics, Vol.37(5), pp.424-430
DOI: 10.1097/DBP.0000000000000317
PMID: 27244299
PMCID: PMC4890614
NLM abbreviation: J Dev Behav Pediatr
ISSN: 0196-206X
eISSN: 1536-7312
Publisher: United States
Grant note: U54 HD061939 / NICHD NIH HHS R01 HL073980 / NHLBI NIH HHS
Language: English
Date published: 06/2016
Academic Unit: Psychiatry
Record Identifier: 9984003990102771

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