Sunday, August 22, 2010

Will autism speaks get my brain?

I still remember at one of the autism society of america conferences I attended, I met with a representative from the autism tissue program, which is a program affiliated with that Microsoft of autism research, autism speaks,that collects postmortem brains of autistic persons for analysis.

I signed some paperwork, gladly donating my brain to science in the event of my inevitable passing, whenever that would be. They also gave me a stickie to decorate my refrigerator, which is still a prominent ornament I see everytime I get some food out.

To date, genetic studies have been of limited value in clarifying the etiology of autism. The genotypes which can lead to similar though not necessarily identical phenotypes are probably too heterogeneous and the sample sizes that can be obtained to date have not been large enough to show many unifying genetic etiologies. For obvious reasons, there are no really good animal models of autism, though research similar to the type Harry Harlow did on rhesus monkeys might produce such a model if a scientist ever wants to pursue that line of work. Also Jocelyne Bachevalier has done some interesting work on lesioning the amygdala and possibly other parts of the limbic system in monkeys for a putative animal model of autism, but there are also obvious inherent limitations in this work. MRI scans and fMRI scans are also most likely quite limited in what they can tell us about anomalies in autistic brains.

Autopsies might be our ace in the hole for being able to get to the bottom of the underlying causes of autism and help in finding more advanced treatments, prevention or even a cure. One problem with this is that autistic persons live out their natural lives and the oldest persons diagnosed with autism might be like 75 years old now (though I suppose an older person could be diagnosed retrospectively), so there is a dearth of available brains. For this reason probably not much more than a few dozen autistic brains have been autopsied. I wrote an essay arguing that we needed to locate autism's so called "hidden horde" if possible so we could have as many post mortem brains available for autopsy as possible. Of course the problem with so many different types of "autism" being out there, even if we could get more brains they might not provide elucidation on the etiology. If enough brains were obtained, though we might get a general idea of what was wrong in a significant subset of at least some autistic persons.

Though of late i have been lax in reading more of the recent literature in autism, many years ago I did read the studies with the first autopsy reports in autism including a study by Williams et al which did not find abnormalities in four brains, but did allude to some cerebellar problems in at least a couple of the autistic brains. Then came the study at UCLA by Ritvo et. al. who found reduced Purkinje cell counts in the cerebella of some deceased autistics. They only looked for Purkinje cells and did not look for granule cells or other types of neurons which may have limited the studies potential for usefulness. Last but certainly not least I read the studies by Bauman and Kemper showing the various problems with the cerebellum and limbic systems in autism. Later, I seem to recall that David Amaral of the MIND institute did some studies of postmortem autistic brains that showed differences in the amygdalas between autistics and normal controls (no offense intended Larry Arnold).

About 9 years ago, Margaret Bauman was in town and gave a lecture to our support group. I knew that because of new techniques developed that the etiology of Parkinson's disease had been discovered, damage to the nigrostriatal bundle, the main dopaminergic pathway of the brain. I asked her if enough brains were available for autopsy in autism if some day we might have the same understanding of autism's etiology as exists in Parkinson's. She seemed to believe that the answer was yes.

Later I worried about how autism speaks would be able to obtain my brain when I passed away. Though my parents are both still living, the likelihood I will outlive them is not low. I don't have a terribly close relationship with my sister who lives about a thousand miles away from me. So, who would know that I willed my brain to science and that it would be imperative to get it out of my skull and preserve it in formaldehyde so it won't spoil immediately. I knew that though I had good intentions, I might never be able to carry them out posthumously. Of course one thing I did not have to worry about is having my feelings hurt if Socrates or some other members of the neuroperversity (a tip of the gadfly hat to Billy "Lurker" Cresp for that term) movement called me a traitor and a "house aspie" for having the temerity to donate my brain to an autism speaks affiliated project, as I would be dead and it would not matter.

Slowly I started to become disillusioned with AS.

I learned that they donated half a million dollars to a rogue scientist who stated that their goal of curing autism was nonsensical and also stated that autism was not harmful and was not a disorder but merely a difference.

They implied their insurance lobbying would make a difference between autistic children having friends and not having friends without providing any proof.

They put on a dog and pony show talking about how important it was to employ autistic persons yet did not employ a single autistic person in their organization or do anything to actually help a person with autism find a job.
Last but certainly not least it would seem AS engages in cronyism.

I was a bit distressed about the logistical problems of autism speaks being able to get my postmortem brain, but maybe it does not matter after all.

1 comment:

Autism Mom Rising said...

Did you ever see the Johns Hopkins Autism/Autopsy study? It found brain inflammation. A lot of it:

This is interesting to me because my Autistic son has massive brain inflammation. Once he was put on Predisone it was like a miracle. Learned to read in a matter of weeks (he's 8 and couldn't read before). No longer on the ground for hours a day writhing in pain. He had his first normal GI function in 5 years within a week of starting Pred.

I know this is just one person, but I wonder if he is part of a specific etiology.