Sunday, April 18, 2010

Rethinking Autism

How many times have you heard that autism is genetic or that autism is present from birth? I know I run across those statements quite often when I read stories about autism in the media and even in scientific studies. But the more I read, the more I have to wonder if statements like these are correct.  Is autism somehow a part of who a person is or is it rather a condition that develops in response to the interaction between a person's genes and the environment?

Why is it that, after years and years of searching for the genetic culprits behind autism, we still have no clear picture as to what genetic changes could be responsible for the majority of cases of autism.  Sure, we have found some changes that are in some tiny group (1% - 2%) that might play some role in autism.  If you add up all of these small groups, you might make it to 10% or 20% of all cases but that is a big if built on the back of an even larger maybe.

Overall, the idea that autism is predominately genetic has not gotten us very far in our pursuit to understand what autism is and how it can be treated or cured. The good news is that some scientists are (finally) seeing the problem and research is slowly shifting from genetic based studies toward ones that look more at the biology and possible environmental triggers of autism.

Consider this opinion article that was just published in the online journal Autism Insights that talks about the preconceived notion that autism is psychiatric condition, present from birth, and how this idea has held back research into the cause, prevention, or cure of autism. I think the conclusion of the article summarizes the problem better than I could ever hope to and, since the article is licensed under a Creative Commons Attribution license, I am including the text below. Enjoy.


Reconceptualizing Autism: Moving Beyond the Behavioral to Address Cause, Cure and Prevention
Kerrie Shandley and David W. Austin
Autism Insights 2010:2 25-30

Conclusion -

Some 70 years have passed since autism was first identified, yet we are no closer to understanding what it is caused by, nor how the condition may be cured or prevented. We argue that this lack of progress is at least partially attributable to Kanner and the manner in which he conceptualized autism as a parentally-mediated psychopathology. Why do we need to be concerned about this? Simply put, autism is a devastating condition, lifelong in duration, with the majority of afflicted individuals requiring supported living arrangements. The majority of sufferers will never engage in meaningful employment, marry nor have children, and cannot engage in meaningful conversation. Autism affects not only the individual, but the family unit and community as a whole.

To avoid simply treading the same unfruitful path of the previous 70 years, we would suggest an urgent revision of autism as a disease state such that its operationalization in major diagnostic systems such as the DSM and International Classification of Diseases recognizes biological variables known to be associated with autism. The affect of this would be to facilitate a more multi-disciplinary and inclusive range of health disciplines to research the biological bases of autism. Improving our understanding of these bases is a fundamental way of addressing the touchstones of medical research into autism; cause, cure, prevention and treatment.

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