Autism: The role of cholesterol in treatment

Alka Aneja, Elaine Tierney

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)165-170
Number of pages6
JournalInternational Review of Psychiatry
Volume20
Issue number2
DOIs
StatePublished - Apr 2008
Externally publishedYes

Fingerprint

Autistic Disorder
Cholesterol
Smith-Lemli-Opitz Syndrome
Therapeutics
Embryonic and Fetal Development
Trichotillomania
Oxytocin Receptors
Dietary Cholesterol
Receptor, Serotonin, 5-HT1A
Genetic Models
Interpersonal Relations
Growth
Myelin Sheath
Dietary Supplements
GTP-Binding Proteins
Sleep
Steroids
Ligands
Membranes
Autism Spectrum Disorder

ASJC Scopus subject areas

  • Psychiatry and Mental health

Cite this

Autism : The role of cholesterol in treatment. / Aneja, Alka; Tierney, Elaine.

In: International Review of Psychiatry, Vol. 20, No. 2, 04.2008, p. 165-170.

Research output: Contribution to journalArticle

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