The Prodigy's Cousin

by Joanne Ruthsatz

  This heterogeneity of behaviors, cognitive traits, and genetics has led many researchers to argue that the notion of autism as a disorder with a single underlying cause must be abandoned. The prodigies, too, have distinct cognitive traits: different strengths undergird the abilities of the artists, the musicians, and the scientists. Do they also differ from one another genetically, according to either specialty or another unidentified variable? Could there be different genes that result in prodigious talent, just as there seem to be many genetic pathways to autism?

  Guy Rouleau, an affable, gray-haired French Canadian, is the director of the Neuro (McGill University’s neuroscience research hospital), a professor at the University of Montreal’s medical school, and a genetics rock star. Over the course of his career, he has tracked down a number of disease-causing genes. He specializes in de novo mutations, the genetic mutations that are present in an individual but not in either parent. He and his team have tied such de novo mutations to both schizophrenia and autism.

  All of the mutations he has identified have led to a decrease in functionality; they often negatively impact an individual’s quality of life or daily living skills. But, in theory, if de novo mutations can result in a decrease in functionality, they can also lead to enhanced abilities. It was this idea that inspired Rouleau’s long-burning interest in trying to track down a savant gene, the name he used for a yet-unidentified mutation that he thought was likely to enhance an individual’s cognitive functioning and result in savant-level skills.

  Others had tried to find such a gene before. One group of researchers attempted to cut through some of the complexity of autism genetics by focusing on autists with a savant skill and their family members, and they found some evidence of a connection between such savant skills and chromosome 15. But when another team tried to replicate those results, they failed.

  Rouleau wanted to see if he could get better results by looking for de novo mutations. He and his team tried to track down savants willing to provide DNA samples, but they didn’t get terribly far. Savants are rare; there are often gatekeepers—friends or family or managers—unconvinced that participating in research is in the individual’s best interest. For a while, the project stalled.

  One of Rouleau’s collaborators read about Joanne’s research. There was probably some overlap between prodigies and savants, the team thought, given their shared abilities—why not see if they could get something going on the prodigy front? A few months after Joanne met Autumn in Las Vegas, she had breakfast with Guy in Montreal, and the two discussed a potential collaboration.

  Soon after, Joanne and her Ohio State collaborators would find evidence of a possible inherited link between autism and prodigy. But what if Guy’s theory about de novo mutations is right, too: What if, just as there’s more than one genetic path to autism, there’s also more than one genetic path to prodigy? Is it possible that prodigy, like autism, isn’t a single condition but a multitude of related conditions, all grouped together because of the similarity of their symptoms? Does prodigy, like autism, have multiple different genetic origins—important underlying variations hidden by a mask of similar behaviors? After nearly two years of discussions, Joanne sent Guy and his team the prodigy DNA. They are now searching for de novo mutations that could provide another piece of the prodigy puzzle.

  Chapter 10

  The Recovery Enigma

  Lucie is still wondering: Did her sons recover from autism?

  To her, it certainly seems like it.

  Her older son, Alex, has long since had his autism diagnosis stripped away, and he’s humming through the mainstream school system. He’s an excellent swimmer, a skilled Lego architect (his creations include a four-foot replica of the Queen Mary 2), and an outgoing chatterbox. He’s popular and enjoys social situations: one morning over breakfast, the child who used to retreat to his room when company came over asked his parents to have more parties. By the time he was ten, his school behavior reports weren’t just passable; they were excellent.

  Her second son, William, is also becoming more socially adept and a better communicator. He was never formally reassessed regarding his autism diagnosis—he’s not in therapy, so the government hasn’t requested another evaluation, and Lucie and Mike don’t care about the label, so they’ve never bothered—but every year he seems happier and more engaged. He’s more open to new experiences, participates in group projects at school, and, more and more often, joins the other kids’ games on the playground.

  His mind is still insatiable. He’s enrolled in Stanford’s online high school math courses and draws Fibonacci spirals in chalk. One Thanksgiving, when his parents gave thanks for family, jobs, Canada, and health, and Alex gave thanks for the family Lego room, William, then seven, expressed his gratitude for irrational numbers.

  To Lucie, the boys’ autism seems to have disappeared; it looks an awful lot to her as though her sons have recovered.

  In scientific circles, though, “recovery”—the notion that an individual no longer has any symptoms of autism—was, for a long time, something of a dirty word. In the earliest autism studies, there was the occasional mention of a former patient who no longer seemed autistic, but the scientists who described such rare cases never used the word “recovered.” More common were reports of individuals who adjusted somewhat to school and their community but who didn’t seem to have fully shed autism’s symptoms. These individuals might have progressed through school, for example, but they still generally had limited communication and obsessive tendencies. As the author of a 1956 study put it, even those with the best outcomes often remained “somewhat odd.”

  The word “normal” began popping up in autism studies in the late 1960s. It wasn’t used often. It applied to a kid here, a kid there. One study described a child who developed normal friendships; there was a report of an adult who lived independently and had a job and friends. But some scientists were still skeptical that these types of cases represented true recovery. Many thought autism was a lifelong condition; recovery just wasn’t a possible outcome.

  That attitude has only recently begun to change, and that change is largely due to the work of the University of Connecticut professor Deborah Fein. She and her team have tackled the recovery question head-on by investigating “optimal outcome” cases—individuals who were diagnosed with autism but who seem to have recovered.

  The team put these optimal outcome kids through a series of tests to see whether any signs of their autism remained. What they found sent a small earthquake through the autism community: The optimal outcome kids didn’t differ from their traditionally developing counterparts in communication skills or social skills. They attended mainstream schools and had developed friendships with their typically developing peers. They didn’t have any residual academic difficulties.

  As far as the examiner’s eye could see, all signs of autism were gone.

  Still, the researchers shied away from actually using the word “recovery.” They cautioned that an optimal outcome isn’t necessarily a possibility for every child and that it shouldn’t be considered the only good outcome for children diagnosed with autism.

  But Sally Ozonoff, the joint editor of one of the journals to publish the team’s findings and herself a major autism researcher, declared it time to begin taking “the ‘r’ word” seriously—and researching the idea rigorously.

  For the first time, it appeared scientifically validated that, with respect to recovery, perhaps not all hope is false hope.

  If recovery is real, why—and when—does it happen?

  This is still largely a mystery. The uncertainty surrounding any individual autist’s prognosis highlights the urgency of unraveling autism’s heterogeneous underpinnings. Despite presenting with similar symptoms, individuals with different genetic profiles or environmental exposures (and any combination thereof) will likely respond differently to different types of treatment (and some might e
ven recover or make significant gains in functioning regardless of the type of treatment they receive). So long as everyone who presents with the collection of behaviors we call autism is grouped together, there’s no way to know in advance which course of treatment will be most effective for any particular person. As the former NIMH director Thomas Insel once put it, “Symptoms alone rarely indicate the best choice of treatment.”

  Lucie, for example, credits behavioral therapy—an intervention designed to change behaviors through learning-based techniques—for her older son’s language and social gains. When she first brought Alex to the Portia Learning Centre where he received his therapy, he was nonverbal and withdrawn; within a few months, he was speaking and growing more interactive.

  Behavioral therapy was first tested as a potential autism treatment in the 1960s, a time when there was a growing consensus that other types of autism therapies hadn’t worked. In one of the earliest experiments, a team of researchers attempted to teach autistic children to press a button or deposit a coin at a particular time (the desired behavior); if they succeeded, they were rewarded with candy, coins, music, or games (the positive reinforcement). The autistic children learned the encouraged behaviors more slowly than the controls, but they did learn them. Two years later, another team reported that they had used behavioral therapy to reduce an autistic preschooler’s tantrums and improve his sleep and communication. In contrast to the failure of other therapies, behavioral therapy seemed to be brimming with potential.

  It got a dramatic boost from a series of experiments conducted by the UCLA psychologist O. Ivar Lovaas, a man whose team infamously combined positive reinforcements, like food and expressions of approval, to build communication and social behavior, with “aversive stimulations,” including slapping the children and administering electric shocks, to stymie undesirable behaviors. In the early 1970s, the researchers reported that every child in the study showed some behavioral improvement. In a follow-up investigation published in 1987, Lovaas claimed that nine of the children (or 47 percent of the experimental group) receiving more than forty hours of behavioral therapy each week finished mainstream first grade and achieved an average-or-above IQ score—“normal functioning,” as he described it. A few years later, eight out of nine of these children were attending traditional schools and blending in with their peers.

  Such results naturally attracted a great deal of scrutiny (even apart from any concerns over the use of aversives). Some scientists suggested that Lovaas and his colleagues had limited their experimental group to autists with relatively better prognoses; others were skeptical of whether the bar for “normal functioning” had been set sufficiently high.

  Since then, behavioral therapy has been explored from many angles. Some studies tinker with the protocol; others test the importance of the specific type of therapy, the number of hours administered, whether the therapy was led by a professional or a parent, and the age at which the child started therapy.

  Despite this growing body of research, the advisability and efficacy of behavioral therapy remains somewhat controversial. Behavioral therapy’s critics view some of its aims as misguided. They view efforts to eradicate autistic behaviors like hand flapping, for example, as interference with autistic self-expression; such efforts, this line of thinking goes, have little to do with autists’ long-term quality of life. Parents and teachers should try to understand the root cause of these behaviors rather than try to make autistic communication resemble neurotypical communication. As Laurent Mottron, a prominent autism researcher and professor at the University of Montreal, emphasized, the goal shouldn’t be to make autists not autistic; it should be to recognize the unique contributions of autists and the distinct ways that autists process information. School and work environments should then be adapted to accommodate their needs.

  In terms of effectiveness, a 2014 meta-analysis commissioned by the United States government concluded that there was “moderate” evidence that early intensive behavioral intervention improved language and cognitive abilities and “low” evidence that such therapy improved adaptive behaviors, social skills, or the severity of core autism symptoms. Still, a 2015 review concluded that early intensive behavioral intervention is the autism treatment “with the greatest amount of empirical support.” The U.S. surgeon general and Autism Speaks, a prominent advocacy and science organization, both support some types of behavioral therapy. Behavioral therapy (still built around principles of learning but now offered in a number of different forms) has become a mainstay of autism treatment in the United States.

  Behavioral therapy may help some autists, but it’s certainly not a cure-all. Not every kid who receives behavioral therapy shows significant gains in communication and social skills, and some kids show drastic improvement in these areas without it. In Fein’s optimal outcome group, for example, the kids who recovered from autism were more likely to have received behavioral therapy than other children. But there were still optimal outcome kids who had received relatively little early intervention, and there were children who did not recover even though they received intensive early intervention.

  While Lucie’s son Alex, for example, seems to have responded extraordinarily well to behavioral therapy, it was less successful for William. Lucie believes that William’s constantly changing interests made it difficult to identify compelling positive reinforcements, an important component of behavioral therapy. In his case, medication eased his social anxiety and perfectionist tendencies. For Jacob Barnett, it was engaging more and more deeply with topics about which he was passionate that seemed to build his social and communication skills—a burgeoning approach to autism known as training the talent.

  Almost from birth, Ping Lian Yeak was different from his older sisters. He didn’t babble when his sisters had. He didn’t say his first word until he was two years old. Even then, there was only the occasional utterance; his speech was nowhere near where his older sisters’ had been. At three, he still barely spoke. He wasn’t quiet, though. He was prone to violent, screaming tantrums; he kicked and bit his parents and sisters. He hardly ever slept, and he didn’t like to be hugged or touched.

  As a toddler, he was hyperactive. If his parents lost their grip on him, he’d bolt. Once, after slipping out of their grasp at a mall near their home in Kuala Lumpur, Ping Lian ran to the food court and drank out of someone else’s drink. His parents, Sarah Lee and Min Seng, sent him to a Montessori school; Ping Lian tried to escape by climbing over the front gate.

  Observing—really more than observing, studying—interesting scenery and images was the only activity that calmed him. Whenever the family passed a bookstore, Ping Lian darted inside and tracked down the house-and-garden section. He gathered home design, architecture, and landscaping magazines and carefully paged through them, scrutinizing the pictures. He did the same with outdoor scenery. When the family went to the lake, Ping Lian ran to the edge of the water, where he would sit peacefully for long periods of time, intently studying his surroundings.

  At first, his parents thought it was just a phase. Ping Lian, who had a round face, dark eyes, and a sweet smile, was handsome. His gross motor skills were good. Other parents reassured them that boys just developed differently than girls did. They were more active; they spoke later.

  But when, at nearly four years old, Ping Lian still spoke only a few words, his parents had him evaluated by a speech therapist. During his appointment, Ping Lian kicked the door and threw things. He was restless and rarely made eye contact. He imitated some speech sounds and occasionally pointed, but his communication was limited; the evaluator estimated that he could say only about sixty words, mostly single words and stock phrases like “I don’t want.”

  The somewhat cryptic wording of his final report characterized his condition as follows: “Ping Lian presents with moderate to severe speech-language delay characterized by deficits in receptive and expressive language skills and reduced pragmatic (soci
al interaction) skills. In addition he presented with attention deficit and hyperactive traits. Ping Lian’s ability to comply was negligible at this time.” Sarah and Min Seng took him for an evaluation at a hospital where they were told that Ping Lian had ADHD with autistic features.

  Sarah, a petite woman with black, curly, shoulder-length hair and a happy, bustling energy, was relieved. She focused on the hyperactive aspect of the diagnosis, and that seemed like a common enough problem. Sarah and Min Seng signed Ping Lian up for the recommended speech and occupational therapy. They waited for him to get better.

  About a year later, Ping Lian’s speech therapist chastised Sarah for her lackadaisical attitude: You can’t take this so lightly, the therapist told her. You need to do more for your son. Sarah and Min Seng bought a computer with an Internet connection so they could learn more about Ping Lian’s condition. The more they read, the more it became obvious that Ping Lian wasn’t just hyperactive; he was autistic. They were shocked and distraught. “Devastated,” as Sarah put it. They thought about Ping Lian’s future, and what they envisioned crushed them.

  Sarah and Min Seng set out to learn everything they could about autism. They read about it online, attended seminars, joined parent support groups, and pooled their money with other families to buy autism books from overseas. They read somewhere that autists don’t understand love and affection (the same idea that had led Lucie to kick one of Alex’s behavioral therapists out of the house), and the thought was crushing. “I tell myself, if he can’t talk, it is not a big problem, but if he has no feelings of love, that is a big problem,” Sarah recalled. Sarah and Min Seng focused on Ping Lian’s emotional development. They let him sleep between them and stroked him soothingly. They played him stimulating music, and, even when he was sleeping, they whispered that they loved him—anything to try to break through to him.