Autism Vox

What is Autism?

by Kristina Chew, PhD on June 9th, 2007

What is autism?

How would you answer that question in 30 seconds? in a minute? what is the most basic piece of information you would like someone who knows nothing about autism, to know about autism? Would you mention biomarkers and genetics as factors in autism aetiology? Some DSM-IV criteria; the “triad of impairments“?

Or maybe it might just be better to tell a story, an honest account, of someone with autism. Examples of both, with reference to research in neuroscience and genetics I heard at the Eden Institute Princeton Lecture Series, follow.

Research by neurologist Martha R. Herbert, M.D., Ph.D., and geneticist Michael Wigler, Ph.D., can be said to describe “two new kinds of autism,” as Clarence Schutt, professor of chemistry at Princeton University and the father of 21-year-old Alex, who has autism. Dr. Herbert indeed started her lecture, “A Brain Disorder or a Disorder Affecting the Brain?,” with the question “what is autism” and went on to describe how her own views have changed. Noting that her study of Eastern philosophy, systems theory and evolutionary and developmental theory motivated her to turn to neurology, Dr. Herbert described the process by which her own thinking about autism changed to consider what is “below the neck,” as she put it. She suggested a correlation between macrocephaly and higher IQ in autistic persons and argued that there are changes—-particularly, an inflammation of the brain—in all parts of the brains of autistic persons, rather than in only those parts of the brain associated with the “triad of impairments” (social, communicative, behavioral) used to diagnose autism. Thus did Dr. Herbert suggest that

“autism now keeps company with a different class of neurological diseases, not just developmental disorder, including Alzheimer’s, Parkinson, HIV.”

Is it “sufficient,” she asked, to define autism as a “behavioral syndrome” or do we need to have a more “whole body” definition of autism that would include behavioral domains but also an understanding of the biological domains involved? As one sign that the latter might be the case, Dr. Herbert showed a graph that suggested that, in recent years, the number of articles on “biological measures in autism” (which, she noted, she has a “hobby/interest/obsession with looking at”) has increased to the point that it is nearly the same as the number of articles on genetics. (Contrast the results of a study by Stanford University researchers published in Feburary about autism research: from 1994-2004, 41% of research funding and published papers on autism was on brain and behavior research, and 13% on the environmental causes of autism.) Towards the end of Dr. Herbert’s lecture, the environment specifically became the focus, as when she showed two visually striking images (dolphin brain abscesses as a result of “PCB/PBDE/Hg [=mercury] burden”, and a great grey cloud of air pollution over China) and made mention of dolphins and other sea animals so contaminated by toxins that she referred to “flame proof killer whales.”

I would have liked to have asked Dr. Herbert about the Stanford study on autism research and about whether we need to rethink “what autism is” not, or not only, in terms of the “biological markers” that she described, but also if there are other ways to understand and diagnose autism than via the “triad of impairments” (and might that slide suggest that parents ought to be wary of dolphin therapy……..). Questions were to be asked at the end of the day and I had to leave early in order to get home in time to meet Charlie on the yellow school bus. (Which duty is, for me, the quintessence of life as an autism mom: How many years has it been since my entire day rotated around getting home to pick him up…….?)

The second “new kind of autism” was described by a geneticist, Dr. Wigler who, after offering a five-minute summation of his lecture on “A Unified Genetic Theory for Sporadic and Inherited Autism,” went back and explained the science. A large proportion of genetic disorders, he noted, could be brought about by spontaneous mutation; a spontaneous mutation causes cancer (which was what he has previously studied; in this biography, Dr. Wigler refers to his undergraduate study of mathematics as “a more autistic activity”). Quoting the motto from Sirius radio—-”"all music was once new”—Dr. Wigler noted that all genetic mutations in humans were once new: One is ten times more likely to find new things—a change in DNA—in the genome of an autistic child, while the rate of finding such things in a typical child is 1%. He distinguished between “sporadic autism,” which is present in a child but not in his or her parents, and “inherited autism”; while research in autism genetics has been on families with multiple autistic children, Dr. Wigler’s research considers cases where there is simplex autism, in which there is one autistic child in a family. Sporadic autism is caused by spontaneous mutation, especially deletion, and he suggested that this finding might be connected to the “increased incidence” of autism. Inherited autism is “less than half, but a substantial proportion of all” and appears to be transmitted dominantly by males (and dominant genes, it was noted, are usually defective genes).

A break for lunch followed Dr. Wigler’s talk (I wanted to ask him if one can accurately use the term “simplex autism” to describe a family with one autistic child who does not have any other children, but might have) and some of the conversations I had with other autism mothers was about how we or our spouses might be carriers; whether autism seemed “sporadic” or “inherited” in our families: No one was diagnosed with autism before my son Charlie, but (keeping in mind the changes that have occurred in the DSM criteria ), I have often wondered if more relatives on my side or Jim’s side might have been—might be some of those never-yet-identified autistic adults. That was a question I wanted to ask Fred R. Volkmar, M.D of the Yale University Child Study Center but I was on the road heading home: When the school bus pulls up, Charlie is looking out the window and he is looking for me.

I got home in time to do a load of laundry, say hi to Jim’s aunt who was visiting, make coffee, and make the bed where several blankets and a sheet had been twisted into an impressive mound by Charlie. I went out to the driveway and, noting my neighbor getting the mail across the street, waved. She smiled, waved back, checked for cars, and walked across the street.

“Are you working this summer?” I asked.

“Oh no. No. But I’d sure like to,” she said. And she told me about how, when she had used to work in the cafeteria for a large corporate headquarters, she had worked year-round. She got laid off when the company moved.

“What kind of work do you do at the school?” I asked. “Do you cook?”

“No, my boss does that. I wrap the bagels and I fill the containers with cream cheese. And I get out the fruit from a big can and mix it up. I fill the ketchup containers and I put out the napkins on the tables. And I make sandwiches, or my boss wants me to, but I don’t know.”

“It’s too bad you can’t work in the summer,” I said.

“It is,” she said. “I didn’t work last summer and it was bad. Real bad.” She paused. “There’s a new company now, I’d really like to work for them.” I asked her what kind of work she had done in the cafeteria and she told me: “I did dishes. I started doing them when I was 17 or 18.” She described how she took them off the conveyor belt and how she took off the garbage too and cleaned the tables. “But I’m 56. Who wants to hire someone who’s my age? Mom said she would try to ask around……..”

“I don’t know anyone who works for that company, but let me see,” I said. I saw Charlie’s bus turning the corner.

“After I got laid off, I didn’t work for a year and it got bad. Bad.” And the bus door opened, and Charlie walked off grinning, and backpackless.

“Charlie! Get your books,” said our neighbor.

“Backpack,” said Charlie, and ran back for it, and our neighbor and I exchanged good byes.

So what is autism?

Maybe we can let that question rest for awhile and work on this one: What is the best thing, the most urgent needs, that need to be addressed? Is it figuring out autism aetiology? is it finding a job for my neighbor, and planning ahead so that, when the yellow school bus comes no more, Charlie, and I, know where he is going?

I have some research to do.

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POSTED IN: Adulthood, Cause, Charlisms, Environment, Genetics, Health, Neuroscience, Schoolbus, Science, Work