Shopping for Autism Research
I have been privileged to see many fascinating and insightful proposals for autism research in the context of my service on the NIH and Autism Speaks review boards. In the proposals scientists share their ideas and to some extent, their hopes and dreams for future autism study.
When these proposals come in, I consider it an honor to advocate on behalf of the ones I believe have the best chance of benefiting today’s autistic population. I’ve discussed and spoken up for al kinds of research on behalf of many scientists and institutions. Yet there are some proposals I think about . . . but I have not seen.
You might say I am dreaming of research. Things I wish people would propose. Projects I’d like to see. Here are two:
1 Studying Geek Success
There is an awful lot of talk about “Almost Asperger Geniuses.” People banter names like Bill Gates, and they say things like, “One third of the science faculty at my university has Asperger’s.” It’s clear that there is a popular perception that many successful geeks are either on the spectrum or close to it. Yet those people are not disabled; far from it. Instead, they are exceptionally successful.
There are a number of screening tools that pick up Asperger/Autism personality traits that fall short of an ASD diagnosis. One good example would be Simon Baron Cohen’s AQ, EQ, and SQ tests. You can explore those tests yourself at www.cambridgepsychology.com
Why doesn’t some intrepid grad student gather a bunch of successful geeks who score high on something like the AQ, yet are successful in life, and look at the reasons for their success. Ideally, those people might be compared to a diagnosed Asperger group who has similar AQ scores yet have an official diagnosis and a disability.
If the scores are similar, what sets one group apart from the other? Why is one person with a high AQ score earning seven figures while someone else with the same score is on social security disability? Are there insights that could transfer from the more successful group to the less successful one?
Is the less successful group missing a particular set of traits? Do they have “extra” traits that make them less successful?
We talk at great length about the great things these exceptional people have brought society. Yet I am not aware of any comprehensive study that examined how this might have come to pass.
This spring, Autism Speaks funded a 25-year follow up study of people with more sever autism. The goal of that study is similar to what I describe here, but for a different population. The folks in that study are much more disabled as many had DSM III autism diagnoses. If the people at the very top of the spectrum are so successful, why don’t we try to learn how they do it and transfer that knowledge to others?
Can it be done?
I think that would be a fascinating piece of work.
2 Attacking the Environmental part of the puzzle
At the profoundly disabled end of the autism spectrum, we look at genetic defects or mutations that result in very severe autistim. In the latest studies, scientists are finding a significant number of de novo, or new, mutations.
That means the parents do not have a particular genetic problem, yet the child does.
Intuition tells us that some of these de novo mutations are caused by a complex inheritance mechanism we just don’t understand. Yet the same intuition tells us a good number of the mutations are the result of some kind of environmental trigger. Probably many environmental triggers.
I would like to see some well thought through studies to explore those possible environmental triggers for some of these newfound mutations.
This is a really hard question to attack. But it must be done.
You can look at genetic data from a disabled person’s blood, and compare his genome to that of a someone else who’s not autistic. The differences put us on the trail of genes that are implicated in the autism puzzle.
I say that as if it’s easy . . . it’s not! It’s very hard work. But we have a plan to attack the problem, and it’s being attacked on many fronts right now. That’s why we are moving faster on the genetic side than the environmental side . . .we know how to attack the problem and get results.
Yet that’s only part of the puzzle. We’re finding mutations, but it’s much, much harder to figure out how they came to be. Where do you start?
You can subject developing cells to bombardment from chemicals, light, noise, magnetism, radiation . . . there’s no limit to the environmental contaminants we can assault cells with. The problem is knowing which bombardments are happening to real people, and which cause damage?
How do we know what’s really happening out there in the world?
We’ve implicated some chemicals in recent years, and ruled out others. We are nowhere close to answering this fundamental question.
I think the environmental question needs to be attacked on the public health/statistical analysis front first. Where are the “pockets of autism?” I hear about school districts, counties, parts of Silicon Valley, and other places in the news. What’s real? What does the statistic data suggest in terms of exposures or agents?
I don’t know how these environmental studies should be structured. But Hesh on the Sopranos had it right when he said, “I don’t know how to write the songs, but I know a hit when I hear it.”
I feel the same way. Bring me a hit for environmental research.
A special interest in something that actually counts as a marketable skill might be a big factor. I obsess over my favorite games and TV shows. My nephew who is low functioning has an obsession with boxes. I know another autistic child who has special interests in Ben 10 and iCarley. None of these provide the same job prospects as, say, an obsession with computer programing.
I was thinking the same thing. There are successful Aspergians, and yet they still have real areas of difficulty. Like you, John. And there are those of us who are semi-successful, like me. I have done well in academics, but have had difficulties finishing my Ph.D. And I also still have many problems dealing with the social world, and of all things--I HATE to talk on the phone. I am very bad at that.
"At its most basic, epigenetics is the study of changes in gene activity that do not involve alterations to the genetic code but still get passed down to at least one successive generation. These patterns of gene expression are governed by the cellular material — the epigenome — that sits on top of the genome, just outside it (hence the prefix epi-, which means above). It is these epigenetic "marks" that tell your genes to switch on or off, to speak loudly or whisper. It is through epigenetic marks that environmental factors like diet, stress and prenatal nutrition can make an imprint on genes that is passed from one generation to the next."
I really enjoyed reading this blog. It's written in language that is very clear to me. Thank you for making an effort to publicize and encourage autism research.
When it comes to obsessions, I too think that it's a matter of luck. Some people just get more financially productive obsessions than others.
Trying to "channel" your obsessions from one thing to another is pretty much impossible. No matter how hard I try, I can't get obsessed with statistics or engineering in the same way I'd naturally get obsessed with, like, the computer game called Colonization (the original one, btw, not the new one).
Also, and kind of unrelated to this particular post -- thank you. Your writing helps me tremendously as the mother of a 4-year-old with Asperger Syndrome.
He had a really easy time being social and well-rounded, even in drama.
It says that the best mathematics students in Iceland were more likely to develop Schizophrenia, which is the opposite of Autism. I know you really like autism but the truth is not what we decide.
You end up realizing how little we will know about the universe in this lifetime. That even top mathematicians in the world take years to solve problems that look simple. And that luck is a significant factor. It feels like I'm staring into a black hole in front of me. Einstein once said "In striving to do scientific work, the chance, even for very gifted persons, to achieve something of real value is very small"