The Smith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder characterized by alterations in the processing of cholesterol. Specifically, people with this disorder do not produce enough cholesterol resulting in a variety of morphological, physiological, and behavioral symptoms. Of interest to autism researchers is that people with SLOS have many of the same symptoms that characterize autism spectrum disorders, including language impairments and stereotyped behaviors. How is cholesterol related to ASDs within and outside the SLOS syndrome? In this article, Aneka and Tierney (2008) present a succinct summary and conceptualization of the possible role of cholesterol in the phenomenology of Autism. The authors reviewed the physiological mechanisms by which low levels of cholesterol may play a role in the behavioral phenotype found in kids with SLOS.
The following mechanisms were discussed:
1. Cholesterol is necessary for normal embryonic and fetal development.
2. Cholesterol is a precursor of neuroactive steroids (possibly affecting anxiety)
3. Cholesterol is required for the growth of myelin membranes (affecting brain maturation).
4. Cholesterol can be a modulator in oxytocin receptor functioning (Oxytocin plays an important role in social behaviors).
5.Cholesterol is a modulator of the ligand binding activity and G-protein coupling of the serotonin1A (5-HT1A) receptor (affecting serotonin neuron development).
An examination of these factors is beyond the scope of this review, but they represent a sensible theory regarding the possible mechanisms by which low levels of cholesterol may lead to many of the behavioral symptoms present in autism. The authors then discussed the implication of these findings for assessment and possible treatment interventions. First, most comprehensive evaluations of autism may include genetic and laboratory testing, including testing for fragile X, heavy metals, etc. The authors stated that biochemical testing can be utilized to assess for low level of cholesterol (actually low levels relative to another compound – 7DHC). In my experience, requesting this test within a neuropsychological evaluation is not common. Actually I don’t remember ever conducting an evaluation of someone who had been recommended this test by anyone (neurologist, pediatricians, psychologist, etc). Finally, the authors reviewed previous studies that have examined the effectiveness of cholesterol supplementation in children with SLOS. Previous studies have found that children with SLOS that receive cholesterol supplementation show a reduction of autistic behaviors, irritability, attention problems, and improved affect.
Should cholesterol testing become a part of the standard assessment procedures of children with Autism?
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