Rethinking Autism Research

John Elder Robison believes it’s about time:

Research into the genetic and biological foundations of autism is surely worthwhile, but it’s a long-term game. The time from discovery to deployment of an approved therapy is measured in decades, while the autism community needs help right away. If we accept that autistic people are neurologically different rather than sick, the research goal changes from finding a cure to helping us achieve our best quality of life.

One way to do so, he suggests, is to “put autistic people in charge”:

The fact is, researchers have treated autism as a childhood disability, when in fact it’s a lifelong difference. If childhood is a quarter of the life span, then three-quarters of the autistic population are adults. Doesn’t it make sense that some of us would want to take a role in shaping the course of research that affects us? If you’re a researcher with an interest in autism—and you want to really make a difference—open a dialogue with autistic people. Ask what they want and need, and listen.

Meanwhile, Stephen S. Hall examines how genetic mutations appear to contribute to autism spectrum disorders. He consults researcher Evan Eichler, who suggests “it’s like autism is the price we pay for having an evolved human species”:

Copy number variations in one specific [genetic] hot spot on the short arm of chromosome 16, for example, have been associated with autism. By comparing the DNA of chimpanzees, orangutans, a Neanderthal, and a Denisovan (another archaic human) with the genomes of more than 2,500 contemporary humans, including many with autism, Xander Nuttle, a member of Eichler’s group, has been able to watch this area on the chromosome undergo dramatic changes through evolutionary history known as BOLA2 that seems to promote instability. Nonhuman primates have at most two copies of the gene; Neanderthals have two; contemporary humans have anywhere from three to 14, and the multiple copies of the gene appear in virtually every sample the researchers have looked at. This suggests that the extra copies of the BOLA2 gene, which predispose people to neurodevelopmental disorders like autism, must also confer some genetic benefit to the human species. …

In other words, the same duplications that can lead to autism may also create what Eichler calls genetic “nurseries” in which new gene variants arise that enhance cognition or some other human trait.