In a Different Key

by John Donvan

  With Rutter looking on from the audience, Folstein took the stage and spelled out the numbers. Twenty-one sets of twins, she reported, had made the cut. Eleven sets of identical twins and ten sets of fraternal twins, with autism in one or both children in every pair. She and Rutter were virtually certain, she told the room, that they had not missed a single pair in their sweep of Britain. That number twenty-one, she reminded everyone, covered sets of twins where at least one twin had signs of autism—a small number, yes, but one that reflected the small odds of twin births crossing paths with autism in the first place.

  Then Folstein revealed the crucial finding: all four pairings where both of the kids had autism were identical twin sets. At the same time, among the fraternal twins, whose DNA was no more closely matched than any ordinary brother and sister, autism never showed up in both kids.

  It was stark, even in a sample set so small, and the conclusion was crystal-clear: genetic inheritance mattered in autism. As Folstein pointed out, the known odds of two kids in one family having autism were as low as 1 in 50. But with the identical twins described in the study, the odds soared to 1 in 3. That could be no coincidence. Genetics had to be in play.

  That day was a turning point in the framing of the origins of autism. Over the next twenty-five years, the genetics of the condition would become an intensively researched area of investigation. Despite early hopes that the “autism gene,” or genes, would be found, no instant answers resulted. But each year, new pieces of the puzzle were consistently uncovered, coinciding with the full mapping of the human genome early in the twenty-first century. Eventually, genetic research tools were developed that were far more precise than were available to investigators when Susan Folstein took to the roads of Britain in 1974, leading to even deeper autism genome research.

  The twin study was also one of the few UK-based studies of that period that did not center on the house on Florence Road, but that was only because twins with autism were few and far between. As the 1970s turned into the 1980s, researchers would continue paying visits to the children of Florence Road, as the questions they wanted to ask about autism became ever more sophisticated, and the answers ever more revealing.

  This was especially true when, in the early 1980s, a young man with a briefcase stepped through the front door. He had two dolls inside the briefcase, and an idea for an experiment that would inform and intrigue anyone who had ever wondered what constituted the essence of autism.

  29

  FINDING THEIR MARBLES

  For those who explored the inner nature of autism, one of the thorniest questions was always the seemingly straightforward one of “what causes what?” It had long been obvious, for example, that the children Leo Kanner had studied all shared, at a minimum, these two traits: a difficulty processing language and a lack of social connection.

  The question was: which, if either, caused the other?

  Was language impairment the primary deficit, which then interfered with social development by hampering social communication? Or was the social deficit primary, which stifled language development, as so much of language learning depends on interaction with other people?

  The answers that autism researchers developed to such questions gave rise over time to various working “models” for autism. These were, in the absence of empirical certainty, thoughtful guesses built out of whatever indirect and often scant data was available. Some believed that sensory challenges, for example, might be the primary driver in autism, affecting both the linguistic and social realms. But other theories abounded.

  In 1984, a radically new model emerged, sparked by a conversation held in a narrow brick walk-up on Gordon Street, in London’s leafy Bloomsbury neighborhood. This was where Uta Frith, who was well on her way to becoming world-renowned, had been based for some years, with a research program called the Cognitive Development Unit. She was miles from the Maudsley now, separated from it by half of London and the River Thames. Ever nostalgic, however, for the hothouse give-and-take of her own student days, Frith encouraged drop-ins by her graduate students to her Gordon Street office. There were group teas held there in the late afternoon, where discussion raged about the latest trends and controversies in cognitive psychology. Frith encouraged students to bring ideas from beyond the conventional boundaries of psychology and to keep in touch with colleagues in other disciplines. Her goal was to foster the feeling of an unstructured, nonstop seminar.

  One afternoon, Frith sat sipping tea with a young man named Simon Baron-Cohen, kicking around ideas for his doctoral thesis. Baron-Cohen came to autism with the same sense of fascination as Frith had. Soon after graduating from Oxford, Baron-Cohen had worked in a school called Family Tree, which had a student body of about six small children with autism and a staff of roughly the same size. For a twenty-one-year-old who had not known autism in his own family growing up, it was an intensive first exposure to the condition. Baron-Cohen was an art teacher for art class, a pancake-maker in cooking class, and a bus driver on school outings; he spent every minute with these children, and with their autism.

  The kids startled and captivated him. He found it disorienting to have one or the other of them lean in close, until their faces were only inches apart—only to realize that the child peering with fierce interest was not really seeing him at all. Not as a whole person anyway, only as sections of anatomy—or geometry. Baron-Cohen sensed that, engrossed in their own curiosity, these kids were just as oblivious to the fact that they were also being looked at by him. He was puzzled and fascinated at the same time and could not let it go. He wanted to understand how these children’s minds made sense of the world.

  That day when Baron-Cohen and Frith met on Gordon Street, they were joined by Alan Leslie, a psychologist from Scotland new to the CDU, whose special interest was the study of pretend play in children. They had all just read a piece in the latest issue of the academic journal Cognition about a concept called Theory of Mind.

  The two Austrians who had written the article, Heinz Wimmer and Josef Perner, had concocted a gorgeous experiment to explore young children’s ability to recognize deception. The question was how to adapt the Austrians’ experiment to make potentially new discoveries about autism.

  Psychologists used the term “Theory of Mind” to describe an individual’s awareness that others possess independent mental states—thoughts, dreams, beliefs—distinct from the individual’s own. A person lacking a Theory of Mind would go through life unable to grasp that others were experiencing their own perceptions and perspectives. This person would tend to see other people as objects without will, like leaves buffeted by the wind.

  A corollary idea was that of mind reading, later renamed “mentalizing.” This was the idea that, by instinct, humans are constantly making judgments based on their best estimate of what others are thinking. To mentalize well, some argued, was to survive in the evolutionary jungle. To assume that a stranger approaching at high speed swinging a club over his head was planning to kill you was probably a smart and lifesaving guess, especially if it set you running in the opposite direction.

  These concepts first came to the fore in the 1970s in a scholarly article that grew out of work done at the University of Pennsylvania on communication with primates. The researchers proposed, based on experiments with a chimp named Sarah, that even animals were capable of guessing what people wanted to do next in a given situation. The paper was titled “Does the Chimpanzee Have a Theory of Mind?” Published in 1978, it became an instant classic.

  The 1983 paper by the Austrians that got Baron-Cohen, Leslie, and Frith excited took the idea even further. If the Theory of Mind was operating, the authors proposed, then nothing would demonstrate this better than an experiment hinging on the human talent for deception. They reasoned that any duplicitous act, such as telling a lie, relies on having a good feel for another person’s perception of reality, since lying is an attempt to manipulate that perception. The attempt to deceive shows that the deceiver is working fr
om a Theory of Mind. To the Austrians, who were researchers in child development, the question was: how early in life does this appreciation for deception kick in?

  The answer, they determined, was at around four to five years of age. However, it was not their result that intrigued the London psychologists. It was their innovative use of what was known as a false-belief test. Presented with a puppet story about kids being naughty, real children were challenged to discern when certain puppet characters had been tricked into believing something was true that was, in fact, false. The children who could recognize the deception were said to have “passed the false belief test.”

  As the three psychologists chatted at Alexandra House, the outlines of a PhD project for Baron-Cohen began to take shape. The experiment he hoped to design would find a way to test the ability of children with autism to recognize deception, and in that, to discover what such children experienced as Theory of Mind. The question was, what sort of experiment could be designed to work with these kids?

  The answer Baron-Cohen came up with was in his briefcase when he walked through the front door of the house on Florence Road.

  —

  BARON-COHEN WAS a familiar face at the Florence Road school, as he had already been working there once a week as a teaching assistant. With his first test subject sitting next to him, he began to tell a story to the young boy, acting it out with the two dolls he held in his hands.

  “This is Sally,” he said, bringing the blond doll to her feet on the tabletop with his right hand. Then he stood up the dark-haired doll in his left hand. “And this is Ann.”

  The boy, watching, said nothing.

  “Sally has a yellow box,” he went on, “and Ann has a blue box.” In front of each doll, he placed a two-inch-high plastic open-top box upside down.

  “Sally has a little marble,” Baron-Cohen announced, producing one from his pocket. “And she puts it under her yellow box.”

  Baron-Cohen continued acting out the story. The marble went under Sally’s yellow box.

  “Then, Sally decides to go outside and play.”

  Baron-Cohen whisked the blond doll behind his back. Now, with Sally gone, Ann came to life in Baron-Cohen’s other hand and proceeded to do something naughty.

  “Ann moves the marble to her own box.” Baron-Cohen performed the transfer: moving the marble from Sally’s yellow box to Ann’s blue one.

  The boy continued to watch.

  The telltale moment had arrived. “Sally comes back inside.” Baron-Cohen walked the doll back into the scene, positioned between the two boxes. Then he posed the critical question to the boy.

  “Where will Sally look for the marble?”

  He waited to see which box the boy would choose.

  Beforehand, as all experimenters do, Baron-Cohen had made a prediction about this experiment’s outcome. Most people, he would predict, would answer yellow. They saw Sally put the marble there, and, taking on her perspective, they would know that she would look for it there when she returned from playing.

  The boy Baron-Cohen was testing saw the same thing. But Baron-Cohen predicted that he would be unable to take on Sally’s perspective.

  Where will Sally look for the marble?

  Prompted by the question, the boy pointed to the blue box—to where he knew the marble actually was, not the yellow box, where Sally would mistakenly think it was still hidden. He had failed the false-belief test.

  The next child Baron-Cohen tested did the same thing. And the next. Blue box, every time. Baron-Cohen was amazed at the consistency of the responses. Every kid was failing the test, and by doing so, proving his prediction right.

  Then one boy actually passed the test. He pointed to Sally’s yellow box. A few kids later, it happened again. Still, 85 percent of the kids, ranging in age from six to sixteen years old, came up with the wrong answer. Many of them were highly verbal, with average IQs.

  Baron-Cohen then took Sally and Ann to two other London schools to run the tests again with a much younger group of kids who did not have autism. None of these control subjects was older than four. Further, one of the school’s populations was made up of children with intellectual disabilities, some with IQ scores substantially lower than those of the kids in his autism group. Baron-Cohen told them the same story and asked them the same question: “Where will Sally look for the marble?”

  The results were nearly the mirror image of those he got from the children with autism. The vast majority of these young children passed the test—86 percent of them, which included the children with lower IQs. Intellectual disability apparently did not interfere with the ability to assume someone else’s view of the world. These children possessed, according to Baron-Cohen’s hypothesis, what the autism children lacked: a working Theory of Mind.

  When Baron-Cohen reported his results to Frith, she was as delighted as she was stunned. She, too, had never expected such a clear trend to emerge. Certain that Baron-Cohen had found something important, she encouraged him to gather more data.

  The result was a 1985 article in Cognition that became one of the field’s landmark papers. Baron-Cohen was the lead author, with Alan Leslie and Uta Frith taking second and third position. Nodding to the famous Theory of Mind paper about chimpanzees, they titled theirs “Does the Autistic Child Have a Theory of Mind?” In it, they made a bold statement on what they believed their data uncovered. “Our results,” they wrote, “strongly support the hypothesis that autistic children as a group fail to employ a Theory of Mind.”

  The paper’s publication had an immediate and lasting impact, not least on Baron-Cohen’s standing as a researcher. At the age of twenty-five, he was suddenly launched to the front ranks of experimental psychologists. The “Sally-Ann Test” became one of those experiments taught in graduate courses.

  Baron-Cohen, Leslie, and Frith had found something vital—something previously unreported and probably pivotal to the nature of autism itself. “We have demonstrated a cognitive deficit,” they declared, “that is largely independent of general intellectual level and has the potential to explain both lack of pretend play and social impairment by virtue of a circumscribed cognitive failure.”

  —

  THE VALIDITY OF the “Theory of Mind” theory of autism would be debated for years, as would other big ideas coming out of London. Frith, working with her students Amitta Shah and Francesca Happé, developed yet another model for autism they called “weak central coherence.” Their experiments showed that individuals with autism showed superior skills at recognizing or manipulating parts of patterns and systems, but less talent for seeing how the parts worked together as a whole. In other words, they were weaker on big-picture thinking, but they could be masters of detail.

  Baron-Cohen, meanwhile, also stirred new ideas into the conversation. He proposed, for example, that autism might be understood as the product of “an extreme male brain,” marked by a propensity for systemized thinking, but at the price of being able to empathize well with other people. This was meant to explain the much higher ratio of men to women with autism, and why autism showed up more often in populations of engineers than in poets.

  In all this, the London researchers kept spilling out data to back up their ideas, letting those ideas evolve, and expand or expire, as new data indicated. The questions asked in London continued to yield wondrous insights on how we all think, not just those of us with autism.

  PART VI

  REDEFINING A DIAGNOSIS

  1970s–1990s

  30

  THE AUTISM SPECTRUM

  In the mid-1980s, a writer with much to say about autism struck upon a word she thought perfectly captured the condition: “continuum.” She felt it expressed the way that autistic traits appeared in such a wide variety of intensities and combinations, among people of such divergent intellectual and social capacities. The word “continuum,” she said, described “a concept of considerable complexity, rather than simply a straight line from severe to mild.”

 
But after she had been writing about “the autistic continuum” for a while, she decided there was an even better phrase: “the autistic spectrum.” It was a decision that would radically reshape the way people interpreted and responded to autism. The repercussions would be political, social, and scientific. In short, her change of mind changed the story of autism.

  The writer was Lorna Wing. A key member of the London circle of researchers, Wing was a psychiatrist with an active practice, a researcher who published groundbreaking studies, an author whose plainspoken books helped families cope with autism, and an activist on behalf of individuals with autism. During the fifty years in which she was active, from the 1960s through 2010, she outshone nearly everyone else in the field. Her unique stature among the leaders of the global conversation about autism—including the Americans—was bolstered by a key distinction between her and other researchers. Schopler and Lovaas; O’Connor and Hermelin; Rutter, Frith, and Baron-Cohen—none of them went home to autism at night.

  Lorna Wing, however, did.

  —

  WING LATER RECALLED that she had her first cold inkling that something was wrong with her six-month-old daughter Susie while the two of them were traveling on a train one day in the late 1950s, sharing a cabin with another young mother she did not know, who had brought along a baby boy about Susie’s age. Typically for the era, Wing did not know a thing about autism, even though both she and her husband, John, who first met in anatomy class when they were assigned to dissect the same corpse, were already practicing psychiatrists.