RSCN4428 WSThis week I discovered the July 29, 2011 Science News article by Laura Sanders, “One Problem, Many Paths”, which described some interesting research on the DNA and associated “neural proteins” in autistic families.

The families were studied in groups of approximately 1000 families, including many families where the parents were not autistic. As with autism studies in the past, the evidence pointed in multiple directions. “An avalanche of new genetic data shows clearly that there is no single culprit in autism,” Sanders says.

There were many new findings. They identified roughly 250 “genome regions” where the DNA of the autistic children varied from their parents.

That’s a lot. Geneticist Huda Zoghi says it demonstrates the “immense heterogeneity of autism”, meaning that there is remarkable variety in autism, one of the main reasons why scientists are still arguing about what it is.

Another interesting outcome: non-autistic children in these families often had many of the changes that appear to be leading to autism. Zoghhi suggests that autistic traits only appear after a certain threshold has been met. In the case of girls, the required threshold appears to be higher than in boys, which may explain why boys are four times more likely to be considered autistic than girls.

“Overall, it does look like a girl can have the same genetic insult as a boy, but not be diagnosed with autism,” they say.

DNA doesn’t operate by itself. It is accompanied by proteins that assist it. Specific proteins activate or deactivate sections of the DNA code. Two autism-associated proteins named SHANK3 and TSC1, that were not expected to be related actually have a “surprisingly cozy relationship”, implicating them as “tight co-conspirators.”

This is interesting, but I can’t help noticing how often autism researchers make the assumption that they’re researching a disease or disorder, rather than simply a difference in mental functioning.

Look at the language they use.

There is “no single culprit” causing the condition. Girls don’t have the same genetic change but the same “genetic insult”. Autism is always referred to as a disorder or a disease, rather than a condition. Not surprisingly, Sanders concludes her essay with the comment that this research “may lead to ways to treat or prevent autism in the future”.

Why are so many people convinced that autism is some kind of mental illness?

Go to the website Wrong Planet and you’ll see that a lot of autistic people are angry about this assumption that their difference is a disease.

Autism doesn’t qualify as a disease or disorder because the cause, or causes, of it have not been identified. Officially it is a ‘syndrome’, which simply means a cluster of traits that occur together without any reason yet determined.

Why don’t we wait until we know what autism is, and why it exists, before we try to prevent it?

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