When I think about scientists in a laboratory, my mind goes to the episode of comedian Martin Mull’s classic small-town talk show, “Fernwood Tonight,” where a guest doctor claims that leisure suits cause cancer, holding up a cage with lab rats in tiny plaid blazers and matching pants. In that same vein, is there a researcher somewhere today taking notes while a little white mouse is trying to enjoy a gluten-free, casein-free cheese wedge?
Thankfully, a lot of very smart folks out there grew up in households where offbeat comedy did not trump science. Some of them are not only investigating the causes of autism, but also striving to develop better treatments. I was fortunate enough to be invited to a conference last weekend at Columbia University Medical Center where leading neuroscientists and clinical researchers spoke about their current projects.
The Simons Simplex Collection is going the DNA route and attempting to identify specific genes related to autism by looking at families with only one autistic child (and preferably at least one typically-developing sibling). I’ve always been confused about these kinds of studies: You hear that they found a gene abnormality that they think is significant, but the catch is that it only occurs in 1% of the autistic sample. But I learned at this conference that 1% in these cases is indeed significant, because the gene mutation is so extremely rare in the general non-autistic population. If this study positively identifies any genes associated with autism, diagnosis would finally be a matter of an objective blood test instead of a subjective collection of observable symptoms. And although no one has yet been able to figure out how to fix a defective gene, “yet” is the operative word.
Participation in this study involves a day at Columbia University Medical Center, thorough evaluation of the autistic child (at no charge!), a family social history, and blood draws for all. If your child would benefit from a comprehensive evaluation, this seems like an excellent opportunity to get a great one, gratis.
Another research project had to do with transcranial magnetic stimulation. I don’t know about you, but that’s not a term I hear bandied about very often. Plain English: Magnetic resonance imaging, or MRI, studies show diminished activity in the brain’s speech and social interaction centers in autistic subjects. Researchers manage to non-invasively stimulate these tiny parts of the brain by placing specialized electromagnets on the patient’s forehead. Although it’s only in its infancy, this research path holds real promise, as brain imaging techniques like MRI’s and PET (positron emission tomography) scans become more and more sophisticated (and less stressful on the subject). Participation in this study involves a 3-hour MRI for the autistic child, which can be broken down into shorter sessions if necessary.
I’d like to be able to tell you that my family and I are contributing to the greater good and participating in both of these studies. The truth is, we’re choosing not to — for now, at least, because a 3-hour MRI would be a nightmare for my son (and for many autistic children, I would imagine), a blood draw would make him very anxious, and mostly because I already ask him to do so much that I just can’t bring myself to ask him for anything more.
If you feel your child would benefit from a free evaluation, or if it wouldn’t be too much of a hardship for your family, you might consider participating. For more information, contact Cassandra D’Accordo at daccordc@childpsych.columbia.edu.
Marni Goltsman
Capturing Autism 