Cholesterol Deficiencies and Autism

by Amber Brooks, CACCP

Many children with autism have low cholesterol and this has been brought to the forefront for some time now. A researcher at Johns Hopkins found that some of the behaviors that children with autism exhibit are in fact due to a genetic disorder called Smith-Lemli-Opitz syndrome (SLOS) and can be fixed with supplementation of cholesterol.

SLOS is an autosomal recessive genetic disorder associated with autism, multiple malformations and mental retardation syndrome. The syndrome is due to a deficiency of 7-dehydrocholesterol (7DHC) reductase, the enzyme responsible for catalyzing the final step in cholesterol synthesis. As a result of the enzyme deficiency the 7 DHC accumulates and the level of cholesterol dramatically decreases. Although some children with SLOS have physical abnormalities, many are only mildly affected and the autistic behaviors may be their only abnormality. Obviously a child can have low cholesterol without having SLOS or autism, this is why it is important to test and why supplementation in either case is warranted.

When testing you will want to do a full lipid panel, many times doctors do not do enough testing leaving them thinking all is good. There have been questions and concerns about supplementing cholesterol and where it goes in the body. The cholesterol from the supplement does not know the difference between the different types of cholesterol (HDL VS LDL). Therefore, a purified cholesterol supplement cannot be inherently good or bad; the body will distribute it to the locations where it is needed most. It is important to start slow as with any supplement for a child. In trials they gave between 20-300mg/kg/day. I have found in practice that the cholesterol levels can take many months to come up although the patient will report improvements far before the levels are normal. I suggest checking the lipid levels every 90 days and doing more frequently as you get closer to normal values.

Some of the many things supplementation with cholesterol can do when needed include: improvements in sleep, aggressive behavior, walking, speaking for the first time and being more responsive socially. When supplementing with cholesterol you may also see decreased rate of infection, reduced skin rashes, reduction in self-injurious behaviors, improved muscle ton, growth, and decreased tactile defensiveness. Many parents see an improvement before the levels start to improve on actual blood tests, which may indicate the importance of this in the production of steroid hormones and bile salts.

When you are treating a child with any of the above behaviors or have a child diagnosed with autism proceed with ordering a lipid panel along with the normal blood work you order. Do not ever give cholesterol as “a trial”; you could do a lot of damage. I make it a point to do blood work on all of the kids I see and a lipid panel is part of their initial testing, I suggest you do the same and then you won’t miss anything. You can start with the basic panel and if there is suspicion move to genetic testing, this is especially important to know for long term care management.

Be Well,
Dr. Amber Brooks <read more>

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