Autism

Autism is a debilitating mental disorder. Autistic patients are unable to form meaningful social connections and are cognitively impaired. At the same time, the data from genetic and twin studies leave little doubt that there is a significant genetic contribution to autism. Since autism is a harmful condition, researchers have assumed that the genes that cause autism are harmful new mutations. However, this does not fit the current epidemiological data.

Autism is increasing in frequency and is fairly prevalent. Harmful new mutations should not spread and should not be prevalent. We postulate that autism is caused by multiple alleles in the homozygous state that confer an advantage in the heterozygous state. We postulate that these are not new harmful mutations, but old beneficial alleles that are advantageous in the heterozygous state because they confer an advantage.

What type of advantage? It has been observed that many autistic children, so called savants, have extraordinary special mental abilities, and yet they are generally impaired cognitively. These savants, as well as extraordinary individuals with light autism (so called Asperger’s syndrome), possess special mental abilities such as 1) great memory 2) obsessive preoccupation with tasks 3) generation of new ideas 4) great music ability 5) great mathematical skills, among others.

Maybe it’s these special mental gifts that are the advantages of “autistic” alleles in the heterozygous state, and in the homozygous state these same autistic alleles cause severe cognitive disability and social impairment instead. The first-degree relatives who do not suffer from symptoms of autism may be heterozygous for many of these “autistic” alleles. According to our hypothesis, these first-degree relatives should possess the mental abilities of the heterozygotes enumerated above to a greater degree than the general population.

The genetic mechanisms that produce symptoms of autism may be much more complex than the "heterozygote advantage" of several "autistic genes". It's possible that many more genes are involved. In "normal" people, these genes cause greater than normal intellectual abilities and higher success rate in life. But in autistic individuals, the expression of the same genes may lead to cognitive impairment and inability to function well in normal society.

Anecdotally, we have often heard of stories that autistic kids are born to very bright and successful parents. There have also been researches showing that parents who possess greater than average intellectual ability seem to have a higher rate of having autistic kids. Autistic dysfunction and intellectual giftedness are not diametrically opposed to each other and may have the same genetic origin.

We will test our hypothesis by asking first-degree relatives of autistic individuals to fill out a questionnaire asking them to rate themselves on the following: 1) memory 2) obsessive preoccupation with tasks 3) generation of new ideas 4) music ability 5) mathematical skills.

Our hypothesis will be supported if the first-degree relatives rate themselves significantly higher than the general population in these categories.

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