These beneficial mutations 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, despite being at high risk for various diseases. The at-risk but inexplicably healthy subjects of the CCR5-Delta32 studies are the prodigies of the HIV world; researchers studied them in an effort to help their “cousins”—those who contracted the virus.
Now, let’s not get too far ahead of ourselves. These efforts to better understand those who are well have produced some spectacular results—but autism is not HIV, type 2 diabetes, or heart disease. There are a couple of important reasons why autism is different.
First, not everyone agrees that you ought to think about “curing” autism in the same way you think about curing diabetes or heart disease; there’s real debate about how best to support autists and their families. 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. As Jim Sinclair, one of the founders of Autism Network International, an autism advocacy organization run by the autistic, put it in his 1993 essay, “Don’t Mourn for Us,”
Autism isn’t something a person has, or a “shell” that a person is trapped inside. There’s no normal child hidden behind the autism. Autism is a way of being. It is pervasive; it colors every experience, every sensation, perception, thought, emotion, and encounter, every aspect of existence. It is not possible to separate the autism from the person—and if it were possible, the person you’d have left would not be the same person you started with.
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 as Jacob Barnett observed, they may be able to do so not in spite of their autism but because of it. And every dollar spent on analyzing 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 second challenge with using this approach in autism research involves both the methodological difficulties and the heterogeneity of autism genetics. Child prodigies are rare, so scientists attempting to study their genes are stuck with a small sample size. Similar work 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 okay, 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 and the director of the Research Domain Criteria project (which we’ll get to shortly), 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 are well from a research perspective. The scientists who discovered that certain SLC30A8 mutations may lower type 2 diabetes risk, for example, challenged the conventional wisdom about that gene, which had previously been associated with an increased diabetes risk. The first time the team submitted their findings for publication, the paper was rejected. “It was so at odds with the previous knowledge of how this gene had worked,” Jason Flannick, the lead author of the SLC30A8 study, said. “This is a totally new hypothesis that has very strong genetic data behind it, but it’s definitely not the end of the story; it’s the start of what will be a very long period of work.” This sort of insight seems like something that could be quite helpful to autists, autists’ families, and scientists. As the prominent autism researcher Geraldine Dawson put it in the general context of autism genetics studies:
We’re not really trying to cure autism in the sense that we think autism is something that you absolutely want to get rid of, because autism actually comes with gifts and unique differences that I think are really special and very important to have as part of our human society. Really, what we want to be able to do is to help each individual with autism reach their full potential—to be able to communicate and to be able to use the unique talents and gifts that they have and also not to suffer from some of the medical comorbidities that go along with autism.
To this end, the prodigies have something important in common with Erich Fuchs and Stephen Crohn. Given their family histories, the prodigies could be considered at high risk for autism, just as Erich and Stephen were at high risk for HIV, and unlike the typically developing siblings of autists, the prodigies all demonstrate some truly extreme autism-linked behaviors and cognitive abilities. But just like Erich and Stephen, who never contracted HIV, the prodigies don’t have the deficits associated with autism.
From this perspective, maybe the prodigies aren’t just a marvelous curiosity. Maybe they’re a potential Rosetta stone for some variations of autism. And as for autism’s complexity and heterogeneity, there’s at least one prominent organization where those issues are high on the research agenda.
Bruce Cuthbert has gray hair, blue eyes, and an oval face. When he smiles, which he does often, he resembles a midwestern news broadcaster.
His office is on the eighth floor of the Neuroscience Center in Rockville, Maryland, a building that houses the National Institute of Mental Health’s headquarters. The space is nondescript: cream walls, gray overhead bins, books lining the top of the shelves. It hardly looks like the staging ground for a mental health revolution. But it’s from this office that Cuthbert is leading the Research Domain Criteria project, an effort more commonly known as RDoC—NIMH’s answer to the mismatch between symptoms-based DSM-5 diagnoses and the underlying biological reality.
This effort leaped into the public spotlight in 2013 when Thomas Insel, then the director of NIMH, slammed the new edition of the DSM as little more than a dictionary. It described groups of symptoms, he said, but didn’t actually diagnose anything; the symptom clusters weren’t rooted in the underlying biology. Using symptoms to diagnose mental illnesses, he argued, was like diagnosing diseases of the body based on the type of chest pain or severity of fever. “As long as the research community takes the D.S.M. to be a bible, we’ll never make progress,” Insel told the New York Times.
It was a sentiment that had been brewing for years. From Cuthbert’s perspective, there had always been something a bit strange about the DSM categories. When the third edition, a revision aimed at establishing more reliable diagnoses for a field that was struggling with consistency, came out in 1980, Cuthbert, who was then a psychology researcher with the U.S. Army Medical Services Corps, recalls being flummoxed. “It was all like a magical mystery tour to us,” Cuthbert recalled. “What is all this stuff? Where did they get all this stuff? To me, they never really did make all that
much sense from a natural science point of view.”
But when Cuthbert began his first stint at NIMH in 1998 (he was the chief of the Adult Psychopathology and Prevention Research Branch from 1999 to 2005), he realized that many researchers didn’t share his skepticism about the DSM categories. These scientists treated them as hard-and-fast diagnoses that described distinct disorders.
Strict adherence to DSM diagnoses was problematic for research; scientists grouped their subjects according to these categories despite growing evidence that the clusters of symptoms didn’t map onto any single underlying disorder.
It was even more problematic for attempts to identify treatments, the effectiveness of which varied widely among individuals who all theoretically had the same disorder. Pharmaceutical development in particular suffered. Drug development can proceed only if scientists know what they’re trying to target; with DSM disorders’ underlying biology murky, pursuing pharmaceuticals was a fool’s errand. A number of companies pulled back from developing psychiatric drugs.
NIMH scientists eventually set out to tackle the problem. In NIMH’s 2008 strategic plan, the organization declared its intent to develop a new classification system for brain disorders that took into account behaviors and biology; that’s RDoC.
RDoC casts aside current diagnoses like autism and schizophrenia. Instead of using these recognized—but, for research purposes, confusing—terms, RDoC breaks brain functioning down into broad constructs like “negative valence systems,” which includes fear and anxiety, and “cognitive systems,” which includes attention and language. These categories cut across current diagnoses in an effort to get at the underlying mechanisms that result in brain disorders and, from there, behavioral abnormalities.
The idea is that by untangling the roots of brain disorders, scientists can develop personalized, targeted treatments. Perhaps with a better understanding of the conditions we have long known as autism or schizophrenia, depression or obsessive-compulsive disorder, scientists can open up the door to improved behavioral, pharmaceutical, and even genetic treatments.
“We have treatments, but they’re not nearly as precise as we want,” Cuthbert said. “So if you really want to do a better job of diagnosing and treating people, it’s clear that we are going to have to face up to the heterogeneity that exists with all of our disorders and move in this precision medicine direction, and that’s really what this Research Domain Criteria thing is all about.”
At this point, the minds behind RDoC haven’t explicitly set out to emphasize the study of those at high risk for a particular condition but not actually affected by it. But they are attempting to broaden the range of behaviors researchers study beyond those that would qualify for a formal diagnosis. The idea is to acknowledge that many traits, like anxiety, exist on a continuum. There is no clean on-off switch demarcating the point that distinguishes those who have an anxiety disorder from those who do not. But because scientists often study only subjects who qualify for a diagnosis, there is little research on those whose symptoms put them on, but not quite over, the diagnostic threshold.
It’s a start, but science still has a long way to go before we can unravel terms like “autism” and “schizophrenia” to see what really lies beneath. In the meantime, the possibility of approaching autism from a novel angle beckons. After all, scientists have already made some headway toward identifying a mutation that seems to result in lower levels of anxiety and enhanced fear extinction (the ability to forget a learned fear response). Child prodigies, a group of individuals who seem to be at high risk for autism but who don’t have the typical social and communication difficulties, seem like another particularly promising starting point.
The prodigy genetics research is ongoing. The Ohio State team still needs to pin down the chromosome 1 mutation that prodigies and autists seem to share. Guy Rouleau and the Canadian team are hunting 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 with 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.
Epilogue
A Wide-Open Future
What happens when child prodigies grow up?
There are plenty of popular reports—and conjectures—about the fate of child prodigies. Some assume that, like Mozart, the prodigies’ spectacular early achievements destine them for the pinnacle of their professions. Others buy into the “early ripe, early rot” perspective. The idea there is that the prodigies, besieged by pushy parents and excessively exposed to the media, lacking friends their own age or the grounding to weather the natural ups and downs of a long career, will break down or fade into obscurity.
The real answer is that no one knows. Just as autism in adulthood is relatively under-studied, so, too, are child prodigies’ grown-up years.
What little can be gleaned from the academic literature suggests that there’s a wide range of outcomes for prodigies (just as there is for everyone else), and that most fall between the extremes of global stardom and the sort of failure predicted by early ripe, early rot. A small study of eight chess prodigies, for example, found that most became eminent chess players and one became a world champion. David Feldman has lost touch with two of the six prodigies he studied closely. The other four, though, have mostly carved out careers within their original fields of interest. The music prodigy graduated from Juilliard and is a solo violinist. The writing prodigy graduated from Harvard and writes about music professionally. One of the chess prodigies has become an attorney, and the jack-of-all-trades prodigy is a musician and a freelance computer consultant. There’s no one in his group of six who has achieved a household-name level of acclaim, but in fields as competitive as music and writing (or as relatively obscure as chess), what are the chances that there would be?
Child prodigies certainly have some advantages as they transition into adulthood. They have extreme work ethics and the confidence of having already developed a noteworthy ability. They have often found a measure of fame that may open up other opportunities.
Children who have already achieved much also face some unique challenges, though. The media attention may dwindle, confusing adolescents who have become accustomed to constant praise. Pursuits that once came naturally may prove more difficult, or the prodigies may find that their interests no longer align with conventional pictures of success. Critics can seem almost gleeful when a prodigy falls off his or her childhood pedestal and into something closer to normality.
Most of the prodigies described in this book are still quite young. Some are still pursuing those passions that first seized them during childhood; others have moved on to other interests. Some will have outstanding adult careers that seem to fulfill the promise of their early abilities. Some may try for success and fail. Others will opt for quieter lives, different paths, and their own unique adventures.
But what the child prodigies make of their talents is only one aspect of their lives. After all, child prodigies aren’t just highly accomplished individuals. They’re funny and charming and driven, and they have incredibly generous hearts. It’s been an amazing privilege to get to know these kids, spend time with their families, and offer a glimpse into their world.
For now, the best anyone can say with certainty is that these children are neither doomed to fail nor predestined for adult success. Here’s an update on their lives since we left off with their stories.
Garrett James
The tiny Louisiana strummer is still a wholehearted musician. He has released several CDs and tours frequently.
Greg Grossman
The Greg Grossman cooking
cyclone has never slowed.
When Greg was twenty, he became the executive chef of Beautique, a new, high-end Southampton restaurant and the sister location to a popular Manhattan eatery. On the restaurant’s busiest nights, his team served four hundred to five hundred people.
He’s a partner and co-founder of Kettlebell Kitchen, an organization that delivers Paleo meals to more than two hundred gyms across New York and New Jersey. It has expanded rapidly and delivers more than fifteen thousand meals per week.
Greg and his partners have two new restaurants in development in Manhattan—a small plates Mediterranean restaurant planned for Midtown and an East Village microbrewery. Both are scheduled to open shortly.
He still loves exploring ingredients, cooking products, and new techniques, and he of course loves eating. He can’t get enough of the challenge of running a kitchen and the close camaraderie that emerges with co-workers engaged in a true team effort.
“It’s a different battle every day. It’s constantly changing, and you have to stay on your feet,” Greg said. “It’s very exciting, and it never really gets old.”
Jonathan Russell
Jonathan is studying music composition at NYU. Since he began college, he’s released a CD of original compositions and has scored several new projects, including a feature film and a Web TV show for kids. He still performs in Central Park.
“I have more fun composing than performing,” Jonathan said. “When I compose, I can kind of just get into my own head and enjoy myself without having to worry about anything, and I certainly have stamina to do that a lot longer. I’ll sit down, and I’ll write for six hours at a time. I can’t perform for six hours, nonstop—it’s just too much.”
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