Studying child prodigies could be the key to the autism breakthrough scientists have been waiting for

Child prodigies have long been a riddle.

Two academics, David Feldman and Martha Morelock, once complained — only somewhat facetiously — that “divine inspiration, reincarnation, or magical incantation” were the best explanations for child prodigies that science had to offer.

But the psychologist Joanne Ruthsatz developed a startling hunch after a chance encounter with a music prodigy’s autistic cousin:  Could autism have something to do with prodigious talent?

The answer seems to be yes. Child prodigies don’t typically have autism.

But many prodigies have autistic relatives. Brothers. Sisters. Uncles. Grandmothers. Some have autism in every twig and branch of the family tree.

The prodigies themselves — all of them — have autistic characteristics, such as extraordinary attention to detail and a tendency toward obsession.

They draw on these traits to rocket to the top of their fields; these attributes are essential to their success.

Ruthsatz and a research team at The Ohio State University have even found evidence that prodigies and autists may have a genetic link in common, a mutation on chromosome 1 that some prodigies and autists (but not their non-prodigious, non-autistic relatives) share.

This connection is fascinating; it offers an unexpected perspective on the riddle of the prodigies’ talent and an intriguing take on what drives children to hone their skills with laser-like focus and intensity.  

But understanding child prodigies’ abilities is only the first step; the next is to find out whether studying this connection could improve our understanding of autism. Doing that requires investigating why it is that prodigies possess the strengths associated with autism but not the challenges.

The answer may be in the prodigies’ genes.

The prodigies and the autists appear to share genes on chromosome 1 — a common foundation. But it is likely that the two groups also have critical genetic differences.

What if there is something about the prodigies’ genes that protects them from autism’s social and communication deficits but leaves the heightened attention to detail, astounding memory, and passionate interests of autism in place?

If the prodigies and the autists share a genetic mutation and have important genetic differences, maybe studying the prodigies could unlock a piece of autism’s infamously complex genetic architecture.

It could mean that a breakthrough in autism research will come not from studying autists, but from studying child prodigies.

This sort of thinking has begun to light other areas of medical research on fire.

For decades, scientists sought to learn more about medical conditions ranging from diabetes to heart disease by studying those who have those conditions.

But recently scientists have begun looking in the other direction for answers.

Instead of focusing solely on those who are sick, scientists have taken a keen interest in those who are well — especially those who are at high risk for a particular disease, due to genes, lifestyle, or both, but don’t develop it.

The idea is that if the scientists can isolate whatever it is that protects these inexplicably healthy individuals from the disease in question, perhaps they can use that knowledge to help those who actually have the disease.

Scientists investigating HIV, for example, made a major breakthrough by studying high-risk individuals who never contracted the virus: they discovered a genetic mutation that protects against some strains of HIV, which ultimately led to the improvement of HIV treatments.  

This beneficial mutation would never have been discovered, and the associated treatments likely wouldn’t have been developed, if scientists hadn’t scoured the DNA of people who were well. These inexplicably healthy but at-risk HIV subjects are the prodigies of the HIV world; researchers study them in an effort to help their “cousins” — those who contract the virus.

Such efforts to better understand those who are well have produced some spectacular results, but autism is not HIV.  Not everyone agrees that scientists should try to “cure” autism in the same way they might try to cure diabetes or heart disease. Some advocates argue that we should view conditions like autism as neurological variations, not neurological disorders. Autism then is a distinct combination of strengths and weaknesses and a part of the individual’s personhood.

From this perspective, focusing on the search for autism’s genetic roots could be misguided (as could efforts to develop pharmaceutical treatments, which are often tied to this sort of work). Autists may not view their autism negatively. Autists also can and do make great contributions to society, and they may be able to do so not in spite of their autism but because of it.

And every dollar spent on analysing genes is a dollar not spent on accommodations, support, and efforts to increase sensitivity that could help autists now. As Julia Bascom, deputy executive director of the Autistic Self Advocacy Network, put it, “The biggest barrier the autistic community faces is not our autism, but a society which is ignorant, unaccommodating, and often actively hostile to people who are different, people with disabilities, and autistic people.”

Others are equally adamant about the necessity and urgency of finding effective ways to treat autism. It’s a disorder, they believe, and parents should do all they can to help their children fight against it. Those who argue for acceptance over intervention, they often claim, are “high functioning”: they don’t appreciate the difficulties faced by those with more severe autism.

The rarity of child prodigies poses another difficulty for this kind of research, as scientists attempting to study prodigies’ genes are stuck with a small sample size. Similar autism research has been done in genetics studies involving siblings of autists (the autists’ genes are compared with those of their non-autistic siblings), and while this approach has helped identify autism-linked genes, it hasn’t yielded any genetic variants that seem beneficial.

Autism has such complicated, knotty underlying genetics that it may not be possible to tease out anything useful.

“So far, none of these single-gene studies has given us anything that’s in some sense actionable to say ok, we can take this, block that gene, or further goose up the effect of that gene, and it’s gonna get us somewhere,” Bruce Cuthbert, the acting director of the National Institute of Mental Health, said. “That just hasn’t proven to be the case.”

But that doesn’t mean it’s not worth exploring. The debate over the nature of autism is important and should be approached with great sensitivity, but you don’t need to believe that autism should be “cured” to appreciate the power of studying those who aren’t on the spectrum from a research perspective.

To this end, prodigies have something important in common with the high-risk but unaffected patients who helped transform HIV research.

Given their family histories, prodigies could be considered at high risk for autism, just as some people are at high risk for contracting HIV, and unlike the typically developing siblings of autists, the prodigies all demonstrate some truly extreme autism-linked behaviours and cognitive abilities. From this perspective, maybe the prodigies aren’t just a marvellous curiosity. Maybe they are a potential Rosetta stone for some variations of autism.

The prodigy genetics research is ongoing. The Ohio State team still needs to pin down the chromosome 1 mutation shared by prodigies and autists. Ruthsatz is also collaborating with Guy Rouleau, the director of the Neuro (McGill University’s neuroscience research hospital) and his colleagues in Canada to hunt for a de novo mutation that contributes to prodigious talent.

It’s possible that neither team will find anything of interest to autism researchers, but it’s also possible that they will.

It’s only by actually studying child prodigies, a group long relegated to the research sidelines, that we’ll find out.  If the connection between prodigy and autism bears out, if prodigies really can point the way toward an improved understanding of autism, maybe child prodigies aren’t so much a mystery anymore.

Maybe they’re the beginning of an answer.

Reprinted from “The Prodigy’s Cousin: The Family Link Between Autism and Extraordinary Talent” by Joanne Ruthsatz and Kimberly Stephens with permission of Current, an imprint of Penguin Publishing Group, a division of Penguin Random House LLC. Copyright (c) Joanne Ruthsatz and Kimberly Stephens, 2016.

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