Recently a team of researchers announced the publication of preliminary results from the largest genome scan ever conducted in autism research. Thomas Wassink, MD, one of the two researches who participated in the project at University of Iowa Hospitals and Clinics, tells more about the report:

What is autism?

Autism is a disorder of childhood, so it begins before the age of three, usually it's recognized much earlier than that, and it's characterized by three areas of impairment:

• One area is in language. Children with autism develop language more slowly, often times they never develop useful language
• The second is impairments in the social or non-verbal aspect of communication. When we communicate with one another, we make eye contact, we use gestures, but children with autism are severely limited in that area of communication.
• The third is children with autism also will often times exhibit excessively rigid behavior, repetitive behavior. They adhere to routine in an excessive way and they also often have some degree of mental retardation.

These change some as life goes on, but there's usually some degree of impairment into adulthood.

How many people are affected by autism?

That's an interesting question. When autism was first diagnosed in the middle of the 20 th century, it was a very rare disorder, but the rate of autism, or the number of people diagnosed with it, has increased in subsequent decades. The current thinking is that it's probably somewhere between one to five people per thousand, but the diagnostic boundaries get a little vague and fuzzy. There are some other associated disorders, but that's probably a reasonable number - one to five per thousand.

How many researchers from how many countries worked on this autism report?

Yes, this was an exciting study because it brought together most of the prominent autism genetics research groups from around the world. It can be challenging to bring together these large groups of people who have been working independently for five, 10, or 15 years on a problem. But this brought together at least 120 researchers from about a dozen research centers, most of them in the United States, but some from Canada, England, and France. It was really exciting to see all of these people working together.

Why is finding these key genetics so important?

The prevailing evidence that has been convincingly proven or supported is that autism is caused by genetic or heritable factors. So, if we want to understand the disease better; if we want to understand what has happened in the brain of autistic children; if we want to have some idea about how to predict it; how to ultimately treat it; we need to know the cause. This study, the pooling all this data, was trying to identify specific genetic factors that would underlie the susceptibility to develop autism. And it did meet with some success, which is really exciting.  

What is the next phase or step in this research?

The results pointed to a couple of specific places on the chromosomes that might be hiding or harboring autism-related genes. The next step with that data is to look very closely in those chromosomal regions to see if we can discover those genes. Additionally, and this was a finding that emerged from the Iowa contribution, one specific gene was identified as playing a role in a very small number of cases of autism, but is interesting because other similar genes had been identified within the past year. That gives us a targeted group of genes, a sort of a select or focus group of genes, so instead looking at all of them, we look at genes related to the few that have been implicated within the past year. It gives us a better idea of where to look, what to look for, and so the next step will be to look very carefully and in very many ways at this very specific, select group of genes.

Will this report eventually lead to treatment or possibly even a cure for autism?

That's the hope, certainly, that by understanding the specific cause of the disorder, we can target treatments and perhaps some day provide a cure. That would still be a long way off. This study does not, for example, produce a finding where you can do a genetic test on somebody to tell whether or not they have autism, or what is causing their autism. But it's that kind of goal that we're after. That's what we're looking for, it's not there yet, and actually translating it to treatments and cures is probably a long way off, though, who knows?   Sometimes we can be surprised and things can happen more quickly than we expect.

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