Understanding Autism

More kids than ever are facing the challenge of ëmindblindness.í The causes are still a mystery, but research is offering new clues to how the brain works.

Mysterious Combination: autistic tendencies in twins may shed light on autism's causes

By Geoffrey Cowley
NEWSWEEK

        HE TOOK UP screaming instead of sleeping at night, and almost any sensory stimulation, even the touch of clothing against his skin, seemed to upset him. Russell’s mother, Janna, remembers carrying him upstairs for a bath one night when he was 20 months old. When she called him her baby boy, he said, “I not a baby—I a big boy!” It was the last full sentence he ever spoke.
       In the years since, Janna and her husband, Rik, have tried everything short of witchcraft to get their child back. Russell follows a special diet and takes dozens of supplements each day. He’s had speech therapy and behavioral therapy and made his way into special-ed classes at a local elementary school. His parents are thrilled by his progress—”Any little improvement is a victory,” Janna says. But drop in as Russell gets home from school, and you see what the family is up against. Pushing the door open, he flaps his arms and makes a guttural sound before accepting a hug from each parent. He doesn’t seem to notice the stranger in the room until his mom urges him to say hello. He honors the request, yet his clear blue eyes reveal no hint of engagement. “He tests in the normal range for intelligence,” his dad says. “But he can’t tell me how his day was, or what hurts.”       

“Any little improvement is a victory,”
— JANNA

       People like Russell are not as rare as you’d think. Autism stalks every sector of society, and its recognized incidence is exploding. In California, the number of kids receiving state services for autistic disorders has nearly quadrupled since 1987, rising 15 percent in the past three months alone. Nationally, the demand for such services rose by 556 percent during the ’90s. Some experts see a growing epidemic in these numbers, while others believe they reflect new awareness of an existing problem. Either way, autism is now thought to affect one person in 500, making it more common than Down syndrome or childhood cancer. “This is not a rare disorder,” says Dr. Marie Bristol Power of the National Institute of Child Health and Human Development (NICHD). “It’s a pressing public-health problem.”

“This is not a rare disorder,” says Dr. Marie Bristol Power of the National Institute of Child Health and Human Development (NICHD). “It’s a pressing public-health problem.”

        And a profound mystery. Nearly six decades after autism was first formally recognized, the big questions—What causes it? Can it be prevented or cured?—are still wide open. But the pace of discovery is accelerating. Scientists are gaining tantalizing insights into the autistic mind, with its odd capacity for genius as well as detachment. And though the suspected causes range from genetic mutations to viruses and toxic chemicals, we now know it’s a brain-based developmental disorder and not a result of poor parenting (accepted wisdom as recently as the 1970s). The condition may never be eradicated, but science is making autistic life more livable, and enriching our whole understanding of the mind.
        Until fairly recently, neuroscientists thought of autism as a single, utterly debilitating condition. Like Russell, people with the classic form of the condition lack normal language ability, and they seem devoid of social impulses. A classically autistic child may tug on someone’s arm to get a need met, but he (four out of five sufferers are male) won’t spontaneously play peekaboo or share his delight in a toy. Nor will he engage in pretend play, using a banana, say, as a pistol or a telephone. What he will do is fixate on a pet interest—doorknobs, for instance, or license plates—and resist any change in routine. A new route to the grocery store can spark a major tantrum. Three out of four classically autistic people are thought to be mentally retarded. A third suffer from epilepsy, and most end up in institutions by the age of 13. “It’s like ‘The Village of the Damned’,” says Portia Iverson, cofounder of the activist group Cure Autism Now and mother of an autistic 8-year-old named Dov. “It’s as if someone has stolen into your house during the night and left your child’s bewildered body behind.”
        As it turns out, though, autism has more than one face. During the 1940s, a Viennese pediatrician named Hans Asperger described a series of young patients who were somewhat autistic but still capable of functioning at a fairly high level.

These “little professors” had quick tongues and sharp minds. They might stand too close and speak in loud monotones, but they could hold forth eloquently on their pet interests. Asperger’s work went unread in the English-speaking world for several decades, but its rediscovery in the early 1980s started a revolution that is still unfolding. Experts now use terms like “Asperger disorder” and “pervasive development disorder” to describe mild variants of autism. And as the umbrella expands, more and more people are coming under it.

Experts now use terms like “Asperger disorder” and “pervasive development disorder” to describe mild variants of autism.

        What, ultimately, makes autistic people different? How do they experience the world? Twenty years ago no one had much of a clue. But a burgeoning body of research now suggests that the core of all autism is a syndrome known as mindblindness. For most of us, mind reading comes as naturally as walking or chewing. We readily deduce what other people know and what they don’t, and we understand implicitly that thoughts and feelings are revealed in gestures, facial expressions and tone of voice. An autistic person may sense none of this. In one of the first studies to highlight this issue, researchers quizzed children about a scenario in which a girl named Sally places a marble in a covered basket and leaves the room. While Sally is out, her friend Anne moves the marble from the basket into a nearby covered box. When asked where Sally would later look for her marble, even retarded children knew she would expect to find it where she’d left it. By contrast, most autistic children thought she would look in the box. They couldn’t see the world through Sally’s eyes.
        Autistic people can master Sally-Anne scenarios with practice, but subtler mind-reading tasks still stump them. They fail tests of “second-order belief attribution.” (If Sally watches John get a miscue about an object’s location, where will she expect him to look for it?) And even the most brilliant Asperger sufferers are easily flummoxed by facial expressions. In one recent study, Cambridge University psychologist Simon Baron-Cohen asked three of them—a physicist, a computer scientist and a mathematician—to match pictures of people’s eyes to words like “grateful” or “preoccupied.” They were lost. The clear implication is that our brains are wired for certain kinds of social awareness—and that this circuitry can fail even as the rest of the organ thrives.
        It’s not hard to see how mindblindness would derail a person’s social development. If you can’t perceive mental states, you can’t show empathy, practice deceit or distinguish a joke from a threat—let alone make friends. Sharing becomes pointless when you can’t see its effects on people, and conversation loses much of its meaning because you miss the unspoken intentions that hold it together.
        Ten-year-old Jace Covert of Sagaponack, N.Y., is always falling into that trap. When an adult friend buys him a cookie, saying it “has your name all over it,” he replies earnestly that he can’t see it there. Jace is not autistic in the way that Russell Rollens is. Jace spent several years in a mainstream private school and kept up with the curriculum. But his social ineptitude made him a magnet for ridicule. Lacking the tools to deflect it, he resorted to hitting, and the school eased him out. Jace is now thriving in public school with the help of a social-skills program, but his prospects are hard to gauge. “Will my son ever know what it feels like to fall in love?” his mother asks. “What kind of work will be available to him? Those are the questions I ask myself.”

“Will my son ever know what it feels like to fall in love?” his mother asks. “What kind of work will be available to him? Those are the questions I ask myself.”

       Romance is predictably difficult for autistic people, but many do brilliantly in certain lines of work. Only rarely does an autistic savant come along who can memorize a phone book in 10 minutes or measure the exact height of a building by glancing at it. But one autistic person in 10 shows exceptional skill in areas such as art, music, calculation or memory. And because they share a cognitive style known as “weak central coherence,” they consistently excel on certain mental tasks. Whereas most of us use context and categories to sort our perceptions, people with autism tend to view the world as an array of discrete particulars. “My concept of ships is linked to every specific one I’ve ever known,” says Temple Grandin, the autistic author and livestock scientist. “There is a Queen Mary and a Titanic, but there is no generic ‘ship’.”
        Sometimes that’s just as well. As the British psychologists Uta Frith and Francesca Happe have shown recently, autistic people’s blindness to contextual cues helps them resist optical illusions. People with autism also have a strong advantage on “embedded figures” tests, which involve finding a simple shape hidden in a complex design (graphic). And they’re masters at telling similar objects apart. With prolonged exposure, anyone starts noticing the uniqueness of things that look identical at a glance; that’s why experienced bird watchers are so good at spotting different subspecies of warblers. People with autism don’t experience this effect. Where others see forests, they see trees from the start.
        People can build lives around these talents. Thirty-one-year-old Eric Spencer of Flemington, N.J., started reading when he was 18 months old. His autism has always confined him to well-controlled environments; he lives near his parents, aided by a “life-skills coordinator.” But his love of letters—individual letters—has been a lifeline. A local library has exhibited his calligraphy, and he sometimes visits nursery schools to carve children’s names from poster board for them. To earn money, he sorts documents at Ortho-MacNeil Pharmaceuticals. “My job,” he says, “is getting along perfectly.”

“We’re at a very primitive stage of research,”
— DAVID AMARAL
neuroscientist

       How do people end up this way? Why do their minds exhibit these quirks? “We’re at a very primitive stage of research,” says David Amaral, a neuroscientist at the University of California, Davis, and research director at the MIND Institute, which just received $34 million in state funding to study autism and other neurological disorders. “We don’t know what causes autism, or which areas of the brain are most affected.” Autopsies of autistic people have found that cells in the “limbic” regions that mediate social behavior are often small and densely packed, suggesting their early development was interrupted. And neural-imaging studies are showing differences in how autistic and nonautistic brains respond to social cues, such as faces or eyes. Researchers at Stanford are now launching a multicenter study to identify the most salient ones and assess their significance.
        Other scientists are zeroing in on possible differences in brain chemistry. This spring, in a preliminary study, a team led by Dr. Karin Nelson of the National Institutes of Health discovered what may be a chemical marker for autism. The researchers identified 246 teenagers whose blood had been sampled at birth as part of the California Newborn Screening Program. Some of the teens were healthy, while others suffered from autism, cerebral palsy or mental retardation. And when the scientists examined their early blood samples, those from the autistic or retarded kids showed high levels of four proteins involved in brain development (VIP, CGRP, BDNF and NT4). The findings “suggest that some abnormal process is already underway at birth,” says Dr. Judith Grether, a California epidemiologist who coauthored the study. If further research confirms the pattern, we may someday be able to test prenatally for autism.
        Unfortunately, we still won’t know what precipitates the condition. There is no question that heredity leaves some people susceptible. Roughly 5 percent of kids with autistic siblings have autistic disorders themselves (that’s about 25 times the usual rate). And the risk of autism is 75 percent (375 times higher than usual) among people with affected identical twins. Researchers are studying “hot spots” on several chromosomes that could harbor culpable genes, but none of those regions has been linked consistently to the disorder. Experts assume the problem stems not from a single gene but from 10 or more that occur in various combinations. “Everyone agrees there is a genetic predisposition,” says Bristol Power of the NICHD. “The question is: what triggers the condition in people who are predisposed?”
        This is where things get murky. Some activists, including Rik and Janna Rollens, fear that childhood vaccines may trigger autistic disorders in susceptible kids. Others suspect that toxic substances are somehow to blame. Bobbie and Billy Gallagher started to wonder about environmental hazards several years ago, after two of their three kids were diagnosed as autistic. The Gallaghers live in Brick Township, N.J., a working-class town with a well-known toxic landfill. And when they sought out other afflicted kids, they were surprised to find 44 of them among Brick’s 71,000 residents. Two years ago they demanded an inquiry, and they got one. In a report released this spring, federal investigators concluded that Brick’s rate of autistic disorders was three times the 1 in 500 usually cited as the norm. They noted that small, intensive studies often find rates this high—an indication that the official estimates may be low—but they found nothing in the landfill, the water supply or the local river that looked like a plausible culprit.
        That isn’t to say toxic substances are off the hook. Many of the babies exposed prenatally to thalidomide during the late ’50s suffered from autism as well as birth defects, and other substances could turn out to have similar effects. Dr. Eric Hollander of New York’s Mount Sinai School of Medicine noticed several years ago that 60 percent of the autistic patients in his clinic had been exposed in the womb to pitocin, the synthetic version of a brain chemical (oxytocin) that helps induce labor. That could be significant, since only 20 percent of all births are assisted by pitocin. Or it could be a meaningless coincidence. In the hope of finding out, Hollander is now tracking 58,000 kids whose mothers’ treatments were monitored during pregnancy.
        Until we know how to prevent autistic disorders, the challenge will be to help people compensate for them. The parents of autistic kids often swear by unconventional remedies (secretin, facilitated communication, auditory integration, special diets), but the benefits are unproven at best. Tranquilizers and antidepressants can help ease the anxiety and compulsiveness that autism causes, and stimulants such as Ritalin can help affected kids shift their attention more easily. But no medication can correct the disorder itself, and none is likely to take the place of intensive schooling.
        The standard approach, known as Applied Behavioral Analysis (ABA), involves conditioning kids through constant reinforcement to behave appropriately. That’s the technique at Sacramento’s ABC School, a day school that boasts four teachers to every five kids. Whatever the task at hand— using words, recognizing facial expressions—the teachers break it into discrete units and drill the kids repeatedly. Every success earns a token, and six tokens earn a cookie. To help nonverbal kids communicate, teachers give them notebooks filled with icons. When 4-year-old Chris hands teacher Jessica the icon for cheese, she gives him a piece and says, “I want cheese,” linking the phrase with the reward. Over time, 70 percent of the kids using this Picture Exchange Communication System (PECS) learn to make simple utterances.
        These routines are a godsend for kids like Kyle and Ian Brown of Long Beach, Calif. The 8-year-old twins have never been easy. They climb furniture, leap from stairways and scale six-foot fences. Ian once made his way onto the nearby freeway. Lauren, their 9-year-old sister, displays only fondness as Kyle slaps his cheek rhythmically and Ian circles the kitchen table, clicking his tongue as he tries to snatch a can of soda. “But it’s hard here,” she says. “Everything’s locked—even my room.” Late last year the twins’ parents thought they’d have to place them in an institution. But when an ABA-oriented school opened in Huntington Beach, they signed the boys up. Six months later both are starting to brush their teeth and dress themselves, and Kyle is saying things like “I want to go for a walk” instead of banging his head in frustration. Ian’s language is limited to mimicking words, but he uses PECS to express needs. Dinners out are still unthinkable. But now, so is sending them away.
        The ABA approach isn’t right for everyone. Educators can often help higher-functioning kids build on their own skills and interests. Six-year-old Jack Guild of Greenwich, Conn., can be hard to reach, even though he has no trouble with language. “As a baby he was not loving or responsive,” his mother, Cathy, recalls. “And as he got older the tantrums got worse. Every transition—bed to breakfast, home to school—was a flash point.” When Jack started seeing caseworkers at the Greenwich Autism Program last year, they didn’t drill him on getting dressed. They helped Cathy devise routines that would heighten his sense of control—simple things like letting him finish a favorite video in the morning, then driving him to school instead of coaxing him to walk. The results have been dramatic. “I feel like I have my kid back,” she says. “A kid who can learn and develop.”
        As different as they sound, both strategies rest on an understanding that autistic kids are not willfully misbehaving, just trying to navigate a world they’re not equipped to fathom. As Dr. Fred Volkmar of Yale wrote recently, the worst possible fate for such a child is to be placed in a program for troublemakers. When that happens, he says, “a perfect victim” is surrounded by “perfect victimizers.” If the new autism awareness accomplishes nothing else, it should spare many children that fate. With luck, it will also get them recognized early, when special interventions can still help. Only 10 percent of the autistic children entering the celebrated Princeton Child Development Center after age 5 go on to enter mainstream schools—yet half of those recognized earlier end up making the transition. Until autism can be prevented or cured, that’s a goal to strive for.
       
       

With Donna Foote in Los Angeles and Heather Won Tesoriero in New York
        
       

Reprinted with permission from © 2000 Newsweek, Inc.