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Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update
Open accessAbstract
BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive inborn error of cholesterol metabolism syndrome with neurocognitive manifestations. SLOS is the result of mutations in the gene encoding the 7-dehydrocholesterol reductase, which results in the elevation of the cholesterol precursor 7-dehydrocholesterol (7-DHC). Previous reports indicate that intellectual disability, behavioral disturbances, and autism symptoms are frequently part of the SLOS behavioral phenotype. In the current study, we characterize the developmental history and current behavior of 33 individuals with SLOS aged 4 to 23 years and report on biomarkers 7-DHC and 8-DHC in relation to cognition and behavior. METHODS: This was an observational case series, wherein participants with SLOS underwent extensive behavioral evaluation of cognitive function, adaptive function, autism symptoms, and problem behaviors, in addition to parent report of developmental milestones. Serum and CSF were contemporaneously obtained from the majority of participants. RESULTS: Developmental milestones such as walking, talking, and toileting were uniformly delayed. Overall levels of cognitive and adaptive functioning were low; no participant received adaptive behavior scores in the average range, and the mean level of cognitive functioning in the full sample was in the moderate range of impairment. Aggressive behavior was present in nearly half of participants. Although the majority of participants had elevated scores on the gold standard autism diagnostic instruments, only about half of participants received a clinical diagnosis of autism spectrum disorder. Finally, while CSF cholesterol was not found to correlate with cognitive or adaptive functioning, both serum and CSF 7-DHC and 8-DHC (and their ratios with cholesterol) were moderately and negatively correlated with functioning in this group. CONCLUSIONS: A history of developmental delay, followed by intellectual disability, is common in individuals with SLOS. Although autism spectrum disorder appears to be a frequent diagnosis in this population, it is apparent that the low level of functioning observed in SLOS may artificially inflate scores on standard autism assessments. Our findings further support that cholesterol precursors 7-DHC and 8-DHC are important biomarkers of the level of functioning in SLOS, especially regarding cognitive abilities, and thus may be to explore as mediators within the context of treatment trials. TRIAL REGISTRATION: ClinicalTrials.gov, NCT00001721, NCT00064792.
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“The SLOS anatomical severity score and gross neurologic pathology inversely correlate with cholesterol and the ratio of 7DHC + 8-dehydrocholesterol (8DHC) to cholesterol [48, 49];”
From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [49]
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“Serum cholesterol, serum 7DHC and cerebral spinal fluid 7DHC negatively correlate with intelligence (intelligence quotient (IQ)) and adaptive functioning (life skills) [49].”
From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [49]
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Metadata
- Authors
- Thurm, A., Tierney, E., Farmer, C., Albert, P., Joseph, L., Swedo, S., Bianconi, S., Bukelis, I., Wheeler, C., Sarphare, G., Lanham, D., Wassif, C. A., & Porter, F. D.
- Affiliations
- National Institutes of Health (US)
- Kennedy Krieger Institute (US)
- Corresponding author
- Tierney, Elaine
- ORCID
- Venue
- Journal of Neurodevelopmental Disorders
- Published
- 2016-04-05
- Volume
- 8
- Issue
- 1
- Pages
- 12-12
- ISSN
- 1866-1947 (ISSN-L)
- 1866-1955
- PMC
- PMC4822234
- OpenAlex
- W2327180343
- Cited by
- 73
- References
- 37
- Citations by year
- 2026: 4 · 2025: 10 · 2024: 8 · 2023: 7 · 2022: 3 · 2021: 17 · 2020: 4 · 2019: 5 · 2018: 4 · 2017: 7 · 2016: 3
- FWCI
- 6.19
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Journal of Neurodevelopmental Disorders (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- National Institute of Mental Health (ZIA MH002914)
- National Center for Advancing Translational Sciences (UL1 TR 001079)
- Autism Speaks
- National Institute of Child Health and Human Development
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Smith-Lemli-Opitz syndrome, 7-dehydrocholesterol, 8-dehydrocholesterol, cholesterol metabolism, DHCR7, intellectual disability, autism spectrum disorder, developmental delay, aggression, biomarkers, adaptive behavior, cognitive function
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