Cited by 82Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersCholesterol and Lipid Metabolism

Autism: The role of cholesterol in treatment

Aneja, Alka, Tierney, Elaine·2008·International Review of Psychiatry

Abstract

Cholesterol is essential for neuroactive steroid production, growth of myelin membranes, and normal embryonic and fetal development. It also modulates the oxytocin receptor, ligand activity and G-protein coupling of the serotonin-1A receptor. A deficit of cholesterol may perturb these biological mechanisms and thereby contribute to autism spectrum disorders (ASDs), as observed in Smith-Lemli-Opitz syndrome (SLOS) and some subjects with ASDs in the Autism Genetic Resource Exchange (AGRE). A clinical diagnosis of SLOS can be confirmed by laboratory testing with an elevated plasma 7DHC level relative to the cholesterol level and is treatable by dietary cholesterol supplementation. Individuals with SLOS who have such cholesterol treatment display fewer autistic behaviours, infections, and symptoms of irritability and hyperactivity, with improvements in physical growth, sleep and social interactions. Other behaviours shown to improve with cholesterol supplementation include aggressive behaviours, self-injury, temper outbursts and trichotillomania. Cholesterol ought to be considered as a helpful treatment approach while awaiting an improved understanding of cholesterol metabolism and ASD. There is an increasing recognition that this single-gene disorder of abnormal cholesterol synthesis may be a model for understanding genetic causes of autism and the role of cholesterol in ASD.

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Crossref · 10.1080/09540260801889062

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1 of the 34 references couldn’t be matched to a known paper.

Research works printed but not linked: 5

  1. Centers for Disease Control (CDC), 2007, Morbidity and Mortality Weekly Report Surveillance Summaries
  2. Irons M, 1995, International Pediatrics, 10, 28
  3. Nowaczyk MJM, 2001, Clinical Genetics, 59, 75
  4. Nwokoro NA, 1997, American Journal of Medical Genetics, 68, 315, 10.1002/(SICI)1096-8628(19970131)68:3<315::AID-AJMG13>3.0.CO;2-W · DOI
  5. Sikora DM, 2004, Journal of Pediatrics, 144, 783

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Authors
Aneja, A., & Tierney, E.
Affiliations
Kennedy Krieger Institute (US)
Corresponding author
Aneja, Alka
Venue
International Review of Psychiatry
Published
2008-01
Volume
20
Issue
2
Pages
165-170
ISSN
  • 0954-0261 (ISSN-L)
  • 1369-1627
OpenAlex
W2041258414
Cited by
82
References
34
Citations by year
2026: 1 · 2025: 3 · 2024: 3 · 2023: 3 · 2022: 3 · 2021: 7 · 2020: 9 · 2019: 4 · 2018: 2 · 2017: 2 · 2016: 6 · 2015: 3 · 2014: 10 · 2013: 8 · 2012: 7
FWCI
1.87
Type
journal article
Language
en
Open access
closed
Locations
  • International Review of Psychiatry (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Health Sciences › Medicine › Surgery › Cholesterol and Lipid Metabolism
Keywords
autism spectrum disorder, cholesterol, cholesterol supplementation, Smith-Lemli-Opitz syndrome, 7-dehydrocholesterol, neurosteroids, myelination, oxytocin receptor, 5-HT1A receptor, dietary therapy, trichotillomania, cholesterol metabolism
MeSH terms
Autistic Disorder, Child, Cholesterol, Humans, Phenotype, Smith-Lemli-Opitz Syndrome

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