In a Different Key: The Story of Autism (44 page)

The two women took a seat inside the mobile home, surrounded
by shelves of beautifully cut glass. More children joined them—lots of them. Folstein spent quite some time observing the twins, while asking their mother questions and explaining more about the purpose of the study. She also took care to inform the mother of some of what was known about autism. Over tea, the mother took all this in and then commented, “Huh! I guess there’s a reason for reading, after all.”

For most of 1974 and into the late spring of 1975, Folstein was on the road roughly two days out of every week, working through Rutter’s list of twins, crisscrossing the United Kingdom, taking tea with every social class. Autism was in all these places. That red-maned mother belonged to a social tribe referred to, usually unkindly, as “gypsies.” Folstein met other tribes, spending an afternoon in the midst of glorious gardens at the country mansion of a celebrity actress married to a famous musician, who were the parents of twins. On yet another day, she dined in the home of a retired general, grandfather to the children she’d come to see, eating bad food from silver plates. A good number of the children on the list were already institutionalized. Folstein found the grounds and the architecture of the mental hospitals picturesque but their interiors dark and dire.

In the course of these months, Folstein became the expert she aspired to be. She mastered the observation and reporting of autistic behaviors, using criteria set by Rutter. It was Rutter, though, who took command of her detailed reports to make the final determination of whether there were true autistic traits at play in these children. Working with Folstein, he eliminated cases where there might have been illness suffered, such as rubella, or physical trauma before or during birth—because those incidents could account for some of the observed behaviors. He wanted only those cases where the possibility of inheritance remained an open question, where both children were of the same sex, and where there were clear grounds for diagnosing autism in at least one of the pair.

Once Folstein’s travels were complete, her long journey yielded just
twenty-one sets of same-sex twins who fit the study’s parameters of autism in at least one twin per set. This was not a surprisingly small number, given the relative rarity of twins in general, let alone of autism as defined by the study’s rather tight criteria. In any case, it would
be the numerical relationships within this group that excited the autism world when Rutter and Folstein made their findings public in July 1976, at a conference in St. Gallen, Switzerland.

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

F
or 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 from 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.

—

B
ARON
-C
OHEN 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.