The near universal presence of autism spectrum disorders in children with Smith–Lemli–Opitz syndrome
Abstract
Smith–Lemli–Opitz syndrome (SLOS) is an autosomal recessive condition caused by a defect in cholesterol synthesis. Affected children often have malformations and mental retardation. Autistic behaviors also are evident. The purpose of the present study was to determine the prevalence of autism spectrum disorders (ASDs) in children with SLOS. Fourteen children, 3–16 years old, were evaluated using three different methods to document autistic symptoms: (a) parent interview, (b) direct observation, and (c) a behavior checklist. Blood sterols were also measured at regular intervals. Each subject was determined to have Autistic Disorder, Pervasive Developmental Disorder, not otherwise specified (PDD NOS), or no diagnosis on the autism spectrum, based on DSM‐IV criteria. Correlations among variables were calculated, and blood sterol levels were compared between diagnostic groups. Approximately three‐fourths of the children with SLOS (71–86% depending on the evaluation method) had an ASD, about 50% diagnosed with Autistic Disorder and the rest with PDD NOS. The children's baseline cholesterol, 7‐dehydrocholesterol (7‐DHC), and 8‐dehydrocholesterol (8‐DHC) levels, and cholesterol levels following supplementation did not correlate with the presence or severity of autistic symptoms. These results suggest that most children with SLOS have some variant of autism. SLOS appears to have the most consistent relationship with autism of any single gene disorder. Therefore, a link between cholesterol metabolism and autism is suggested. With further study, these findings, together with knowledge of the genetic and biochemical defects in SLOS, will likely provide valuable insights into the causes of autism in general. © 2006 Wiley‐Liss, Inc.
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ASD is frequently observed in SLOS; however, the rate of ASD clinical diagnosis appears to be artificially increased due to lower cognitive function.
“ASD is frequently observed in SLOS [52, 53]; however, the rate of ASD clinical diagnosis appears to be artificially increased due to lower cognitive function.”
From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [53]
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- Authors
- Sikora, D. M., Pettit‐Kekel, K., Penfield, J., Merkens, L. S., & Steiner, R. D.
- Affiliations
- Oregon Health & Science University (US)
- Corresponding author
- Sikora, Darryn M.
- ORCID
- Steiner, Robert D.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2006-06-07
- Volume
- 140A
- Issue
- 14
- Pages
- 1511-1518
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2119315359
- Cited by
- 196
- References
- 26
- Citations by year
- 2026: 5 · 2025: 5 · 2024: 8 · 2023: 6 · 2022: 5 · 2021: 9 · 2020: 9 · 2019: 4 · 2018: 4 · 2017: 11 · 2016: 11 · 2015: 6 · 2014: 15 · 2013: 21 · 2012: 16
- FWCI
- 4.85
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Oregon Health and Science University
- Deutsches Krebsforschungszentrum
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- Smith-Lemli-Opitz syndrome, autism spectrum disorder, autism prevalence, cholesterol metabolism, 7-dehydrocholesterol, 8-dehydrocholesterol, autistic disorder, pervasive developmental disorders, autism severity, cholesterol supplementation, monogenic disorders
- MeSH terms
- Adolescent, Autistic Disorder, Child, Child, Preschool, Cholesterol, Female, Genes, Recessive, Humans, Male, Smith-Lemli-Opitz Syndrome
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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