Cited by 65Autism Spectrum Disorder ResearchSexual Differentiation and DisordersGenetics and Neurodevelopmental Disorders

The role of cholesterol metabolism and various steroid abnormalities in autism spectrum disorders: A hypothesis paper

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Gillberg, Christopher, Fernell, Elisabeth, Kočovská, Eva, Minnis, Helen, Bourgeron, Thomas, Thompson, Lucy, Allely, Clare S.·2017·Autism Research

Abstract

Based on evidence from the relevant research literature, we present a hypothesis that there may be a link between cholesterol, vitamin D, and steroid hormones which subsequently impacts on the development of at least some of the “autisms” [Coleman & Gillberg]. Our hypothesis, driven by the peer reviewed literature, posits that there may be links between cholesterol metabolism, which we will refer to as “steroid metabolism” and findings of steroid abnormalities of various kinds (cortisol, testosterone, estrogens, progesterone, vitamin D) in autism spectrum disorder (ASD). Further research investigating these potential links is warranted to further our understanding of the biological mechanisms underlying ASD.Autism Res2017. © 2017 The Authors Autism Research published by Wiley Periodicals, Inc. on behalf of International Society for Autism Research.Autism Res 2017, 10: 1022–1044. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

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  • Decreased neuroactive steroid levels and sterol-related abnormal levels of cortisol, testosterone, estrogen, progesterone, and vitamin D have been reported in ASD.

    “Decreased neuroactive steroid levels [11] and sterol-related abnormal levels of cortisol, testosterone, estrogen, progesterone, and vitamin D have been reported in ASD [12–14].”

    From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [14]

    The Testosterone in Autism Spectrum Disorders section reports elevated fetal progesterone, testosterone, and cortisol in a study of males later diagnosed with ASD. The Vitamin D in Autism Spectrum Disorders section reports vitamin D deficiency in at least a subgroup. The Estrogens in Autism Spectrum Disorder section discusses estrogen-related genes and signaling, but does not establish abnormal estrogen levels; the paper also treats a common sterol-related mechanism as a hypothesis. The separate claim about decreased neuroactive steroids is attached to citation [11], not this source. (LLM, conf=0.84)

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2 of the 178 references couldn’t be matched to a known paper.

Research works printed but not linked: 3

  1. Coleman, M., & Gillberg, C. (2012). The autisms (4th ed). New York: Oxford University Press.
  2. Kumar, V.S. (2014). Phenylketonuria with autism spectrum disorders: A case study. International Journal of Health Sciences and Research (IJHSR), 4, 308– 312.
  3. Tierney, E., Nwokoro, N.A., Porter, F.D., Freund, L.S., Ghuman, J.K., & Kelley, R.I. (2001). Behavior phenotype in the RSH/Smith‐Lemli‐Opitz syndrome. American Journal of Medical Genetics, 98, 191– 200. 11223857

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Authors
Gillberg, C., Fernell, E., Kočovská, E., Minnis, H., Bourgeron, T., Thompson, L., & Allely, C. S.
Affiliations
  • University of Gothenburg (SE)
  • Queen Mary University of London (GB)
  • University of Glasgow (GB)
  • Centre National de la Recherche Scientifique (FR)
  • University of Salford (GB)
Corresponding author
Allely, Clare S.
Venue
Autism Research
Publisher
Wiley
Published
2017-04-12
Volume
10
Issue
6
Pages
1022-1044
ISSN
  • 1939-3792 (ISSN-L)
  • 1939-3806
OpenAlex
W2605545000
Cited by
65
References
178
Citations by year
2025: 7 · 2024: 8 · 2023: 7 · 2022: 11 · 2021: 10 · 2020: 9 · 2019: 6 · 2018: 7
FWCI
0.67
Type
journal article
Language
en
Open access
Locations
  • Autism Research (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • ENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) (acceptedVersion)
  • University of Salford Institutional Repository (University of Salford) (submittedVersion, cc-by)
  • HAL (submittedVersion, cc-by)
  • Aberdeen University Research Archive (Aberdeen University) (submittedVersion)
Topics
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords
autism spectrum disorder, cholesterol metabolism, steroid metabolism, vitamin D, steroid hormones, cortisol, testosterone, estrogen, progesterone
MeSH terms
Autism Spectrum Disorder, Cholesterol, Estrogens, Hormones, Humans, Hydrocortisone, Progesterone, Testosterone, Vitamin D

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