A surprising finding from studies of mice with either fragile X or Rett syndrome is that even adult mice have shown striking reversal of symptoms with medication. Drugs for fragile X and Rett syndrome are now in early-stage clinical trials in humans, and very preliminary data with at least one compound suggest positive effects on social engagement in children with fragile X. Recent biomedical research has been fraught with exciting findings in mice that cannot be replicated in humans. Nevertheless, these findings raise a significant challenge to the assumption that developmental disorders are hardwired into the brain and cannot be reversed. If they are a consequence of impaired function of cellular pathways, then it may be possible to resolve some symptoms of autism without altering genes. In other words, autism symptoms may reflect not brain development, which is usually irreversible, but brain function, which is often pliable. It is clear, however, that instigating normal brain function in someone whose brain has developed without it will not fully resolve symptoms. Geraldine Dawson, chief science officer of Autism Speaks, said, “You’ve fixed their car’s broken engine, but you still have to teach them to drive.”
In 2012, Wigler and other scientists at Cold Spring Harbor Laboratory discovered a link between genes affected by fragile X and genes that are disrupted in some children with idiopathic autism. This suggests that medications showing promise in fragile X may be helpful to a larger subset of autistic people. Wigler and Sebat believe that we’ll eventually see what more of the rare gene variants do. Some probably disable or duplicate enzymes that a drug might mimic or inhibit. Others might affect neurotransmitter levels or change the pH or environment of the synapse, and it may be possible to reverse those effects. “I would be amazed if there aren’t pharmacological treatments for more of this,” Wigler said. “We’ll never know all the genes, and we’ll never have a treatment that works for everyone, but we should be able to find good treatments for a subset of patients.”
The Cambridge autism researcher Simon Baron-Cohen postulates that women are empathizers, hardwired to understand others, while men are systemizers, hardwired to organize factual and mechanical information. Autism, in this view, is an overexpression of cognitive masculinity—short on empathy and long on systems. Baron-Cohen has investigated the extent to which unusually high levels of prenatal testosterone might alter brain structure and engender autism. Given that more androgens circulate in utero during pregnancy with a boy, a smaller excess would tip a male fetus into autism than would tip a female. This may be a partial explanation for why autism occurs twice as often in males as in females.
Autistic people are indeed often systemizers; many have uncanny technical abilities. Some are savants who do not function independently in many areas of life but have extraordinary abilities in one domain—sometimes a relatively trivial one, such as the ability immediately to list the dates of Easter for every year until the end of time, and sometimes a useful one, such as the competence to create meticulously accurate drawings, or to hold in mind a complex design, or to produce a perfect map of Rome after flying over the city once. Whether this has to do with prenatal testosterone is subject to debate, but there is a maleness to this way of being.
Extreme trauma can provoke behavior that resembles autism. Some people appear autistic following perinatal injury. Grossly neglected children taken from Ceaueşcu-era Romanian orphanages often showed autistic-like behavior, though examination showed them disengaged not merely from other people, but also from the material world. Bruno Bettelheim was a Holocaust survivor who had seen autistic-style withdrawal in other inmates at Dachau, and on this basis he mistakenly concluded that all autism was linked to abuse. Certainly, however, abuse can exacerbate symptoms associated with the disorder.
Too often, the presence of autism confuses parents and doctors, so that other ailments may go undetected or untreated. Margaret Bauman of Harvard Medical School described how one of her autistic patients had for years suffered spasmodic twists and writhing. These had been presumed to be the symptoms of autism and therefore ran unchecked. Referral to a gastroenterologist revealed that the patient had esophageal ulcers; when these were treated, her gyrations stopped. Fred Volkmar at Yale described a nine-year-old boy who had such severe motor issues that he was unable to hold a pencil. When the boy entered third grade and the other students were learning cursive penmanship, Volkmar suggested giving the boy a laptop. The teacher objected to giving the boy a “crutch.” Volkmar said, “If you didn’t have a leg and I gave you a crutch, that would be a mitzvah.”
Approximately one-third of autistic people have at least one psychiatric diagnosis in addition to autism, compared to 10 percent of the general population, but they frequently don’t get treatment for these complicating factors. One in five suffers from clinical depression, and about 18 percent from anxiety. Kamran Nazeer’s autistic friend Elizabeth had inherited a tendency toward depression from her nonautistic parents. “The doctors were reluctant to prescribe antidepressants or make any firm diagnosis of the malaise,” he writes mournfully. “Wasn’t it all really caused by her autism?” She eventually committed suicide.
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John Shestack and Portia Iversen founded Cure Autism Now, which was the leading private funder of autism research until it merged with Autism Speaks; they started the Autism Genetic Research Exchange, the largest open-resource gene bank in the world; they drafted many leading autism geneticists. “The belief that poor parenting caused autism meant that no meaningful research was done for fifty years after it was described,” Portia said. “When our son, Dov, was diagnosed, autism was under the radar, not under the microscope. I didn’t think I was good at science. But the same way you learn to jump if your house is on fire and you’re on the third floor, that’s how I learned the science of autism.” She wanted to increase researchers’ contact with families affected by autism. “The most effective thing we could do was to become the data,” she said.
Like Carly Fleischmann, Dov Shestack has emerged as having normal intelligence—a whole mind that had been immured in silence for many years. When he was nine, Portia asked him to point to the letter s, and he did so, and she soon realized that he could read. “It was really shocking,” she said. “You don’t think they can read when you don’t know they can think.” When she understood that Dov could express himself, she asked him what he’d been doing all these years. “Listening,” he said. His education remains problematic; he needs one-on-one support, but he’s cognitively normal. “There’s a popular belief that you can’t have someone who acts retarded and is intelligent,” Portia said. “But you can.”
Portia Iversen has investigated the deepest riddle of autism: the relationship between what can be observed and what is going on inside autistic people. “Some autistic people seem unmotivated to communicate. I can’t be positive, but it appears that way. Then there are people who desperately want to be understood. I see a big split in my son between his disorder and his personality. He’s mostly not doing what he wants to do and acting as he wants to act. Many mornings, he starts making whining noises, flipping his hands; it’s like a chemical storm. It just drives him. Even with that, he’s much happier than before I realized he was saying something. Even constrained communication is the difference between life and death.”
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Given the broad range of symptoms, all of which seldom coincide in a single case, diagnosis is an extremely subtle enterprise and is made more difficult by the idea of an autism spectrum that fades into normality at one end. “It’s much like IQ, weight, or height,” Geschwind points out. “There’s optimal weight; there’s a few extra pounds that some people may find unattractive; there’s obesity that undermines everything else about your health.” Everyone’s mind is disordered in some measure sometimes, and how a spectrum contiguous with normality can also be categorical is a complicated question. “Classrooms,” Isabelle Rapin said, “are dichotomous, which is the only reason for these classifications of children whose differences are n
ot black-and-white: so they can be put in the right room or center. This is policy, not biology.”
The innumerable questionnaires and inventories, seldom fully sufficient for diagnosis, include the Autism Behavior Checklist (ABC), the Childhood Autism Rating Scale (CARS), the popular Checklist for Autism in Toddlers (CHAT), the seven-hour-long Diagnostic Interview for Social and Communication Disorders (DISCO), the Autism Diagnostic Interview–Revised (ADI-R), and the highly regarded Autism Diagnostic Observation Scale–Generic (ADOS-G). It’s hard to find a consistent instrument that applies to both people who speak and those who are nonverbal. Any of these tests can produce different results depending on who is conducting it. In the ADOS, for example, you are supposed to see if you can coax a child into imaginative play. Some examiners I observed had tremendous vitality and imagination; others were simpering or overbearing or tired and not imaginative themselves. Also, the examiner has to be able to distinguish between what kids can’t do (autism) and what they won’t do (personality or mood issues). The severity of autistic symptoms tends to fluctuate in any individual, so someone may perform differently one day from another. More adults are seeking diagnosis, so the tests have to work for people of variable ages. Because autism is a developmental disorder, however, it is not diagnosed unless symptoms began before age three; autistic-like symptoms that set in later are not considered developmental.
Medicine has been too eager in many cases to dismiss parents’ insight. August Bier, a physician practicing in the early twentieth century, said, “A smart mother often makes a better diagnosis than a poor doctor.” The closeness with which a parent observes can be as powerful as the expertise with which a physician observes, and setting them up in opposition to each other is a disaster for everyone. But medicine is often unprepared for parental perspectives that do not align with an illness model. For many parents, diagnosis is a crossing of the Styx into hell. For others, such as Kathleen Seidel—disability rights advocate, founder of the website Neurodiversity.com, and parent of a young adult diagnosed with Asperger syndrome at the age of ten—it can be a revelation. “I think of diagnoses as an aid to pattern recognition in our lives,” she said. “We could make sense out of things that had previously been inexplicable to us; we felt validated. At the same time, I could feel this pull of lessened expectations by virtue of a diagnosis, and it didn’t seem right or healthy to me to think that way. God has many different ways to build a brain. A Cray supercomputer is used for really complex, intense computing that involves the manipulation of massive amounts of data. It runs so hot it has to be kept in a liquid cooling bath. It requires a very specific kind of TLC. And is the Cray defective because it requires this kind of nurturing environment for its functioning? No! It kicks ass! That’s what my kid is like. He needs support, needs attention, and is amazing.”
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Marvin Brown’s mother, Icilda, has delineated what she can influence and what she cannot, and she does not rail against what is beyond amelioration. It is easy to patronize “simple wisdom” by honeying the rough circumstances from which it generally springs, or by representing it as simpler or wiser than it is, but Icilda Brown seemed more at peace with her son’s condition than almost any other mother I met. A lifetime of nonchoices had given her a gift for acceptance. She demanded good services for her son, but did not expect those services to turn him into someone else. The story of middle-class and affluent parenting of autistic children is an interminable saga of tilting at windmills; in contrast, I admired both Icilda’s acquiescence and the happiness that was its corollary.
Icilda grew up in South Carolina, one of ten children in a poor African-American farming family. She came to New York in the 1960s and found work cleaning houses. She married young, and by thirty she was mother to five children. Marvin was next to youngest. By two, Icilda said, he was different. “Three years old, he started to talk, and then he just stopped, and he didn’t really try to talk anymore until he was five.” The diagnosis of autism came when he was almost four, in 1976. “He never would cry,” Icilda recalled. “He just would be happy, playing and running back and forth. He would get up early—two in the morning every day. When he gets up, I get up. He couldn’t stay still. I just got used to it.” Cleaning houses for a living is not light work, and Icilda did it for many years on the three to four hours of sleep that her life with Marvin allowed her. “I prayed not to be too tired,” she said. “I prayed for guidance, to help me to do the right thing, and for strength, to put up with him, because that’s what it takes every day.”
Icilda enrolled Marvin in a program for autistic children at Jacobi Hospital in the north Bronx, an hour from her home. The program kids were mostly attending public schools near Jacobi, and since Marvin hated to travel, Icilda picked up her family and moved near the schools. Marvin was a hand-flapper and had many other repetitive behaviors. He had limited speech. Even though Icilda’s husband left when Marvin was ten, he has had a constant, attentive mother, the same schools, the same apartment, as much continuity as Icilda was able to manage. “When he’s sad, he’ll tell you, ‘I’m very sad,’” Icilda said. “When he’s happy, he’s happy. If he gets angry, he’ll say, ‘I’m angry!’ And I’ll talk him down and pat him. I’ll say, ‘You just sit down and relax.’ I can calm him.” As a devout Jehovah’s Witness, Icilda has relied on the community of her religion. “Our church was the biggest comfort and still is. Everyone there was very, very supportive. All of them know him; he knows them.”
Taking care of Marvin became easier in some ways as he grew older. He slept more; he was better able to be on his own. But he became more self-conscious about his condition. When Marvin entered his twenties, Icilda gave up cleaning houses and found work taking care of the elderly in Mt. Vernon, New York, and her hours were a bit lighter. She had been advised by professionals that Marvin might do well in a group home, and she secured a place for him. Before taking him there, she said, “This is only if you want to stay.” She promised to bring him home every weekend. At first he said he didn’t like it, but she insisted that he give it a fair chance. He was no happier at the end of the year, so she brought him home. Some five years later, while Marvin was attending a day program in the Bronx, he became upset; others who were present later claimed that he was provoked by one of his teachers. Although Marvin had no history of violence, the day-program worker called the police, who manacled him and brought him to a mental hospital. When Icilda learned that her son was locked up, she rushed to the hospital to retrieve him. Marvin was terrified and utterly confused. Icilda was outraged. “I sent a letter to the mayor, the commissioner—everybody. I got one of the people I used to clean for to help me write. They brought the whole state down on them. They put the program under investigation.” Other frightened people had gone through the same experience, and the woman who was responsible was removed from her job. Icilda transferred Marvin to a new day program, where he has been prepared for employment; under supervision, he has worked in a bookstore and for a messenger service and has learned to perform janitorial duties.
Icilda was sixty-two when we met, and it had been forty-three years since she began the care of infants. “He takes a lot of supervision,” she said. “But he calls me, you know, ‘my friend.’” She said it with domestic bluster and contentment and a shy smile. Icilda has become a community resource; she has met with hundreds of other parents, and she made videos of Marvin that are shown at the centers where he has been helped. “I’ll say, ‘You see my son now. And now see your kid’s running and not talking. That was him. If you give up, your child doesn’t have a chance.’” She paused, with a big, open smile. “I looked back, and I said to the Lord, ‘Oh, thank you for bringing me from such a long ways.’”
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The Autism Society of America estimates that one and a half million Americans are on the spectrum; the CDC says 560,000 people under twenty-one have autism; the US Department of Education says that autism is growing at a rate of 10 to 17 percent per
year, and that numbers in the United States could reach four million in the next decade. Recent work suggests that more than 1 percent of the world population may be on the spectrum. Part of the upsurge has to do with the broadening of categories: people who might once have been classed as schizotypal or mentally retarded are now on the spectrum, as are some who would once have been thought odd but not given a diagnosis. Aggressive advocacy by parents has helped to establish better services for kids with autism than for kids with other afflictions. If you attach better services to a diagnostic category, some doctors will apply that diagnosis to children for whom it is not entirely appropriate in order to access those services. Parents who might once have shunned an autism label to avoid being unjustly blamed for their child’s disability are now willing to seek out that label so their children may qualify for special-education services. California, for example, has considerable diagnostic substitution; the state reported a decrease in mental retardation coincident with a twelvefold increase over twenty years in services for autism. Autism researcher Laura Schreibman estimates that the lifetime cost of autism is $5 million; even parents with full insurance incur tremendous annual costs. Many insurers refuse to pay for labor-intensive strategies such as ABA, which is an educational rather than a medical strategy, and many parents who have the wherewithal sue their insurance company, their school board, their local government, or all three. Having a severely impaired child is utterly draining; these legal proceedings often stretch parents to the breaking point.
Is autism itself also on the rise? Inconceivable time and energy have been poured into this question, and no consensus has emerged, but it seems reasonable to conclude that both diagnosis and incidence have increased. During the decade that I spent working on this book, people would hear my list of chapters and then offer to introduce me to friends who were dealing with autism at least ten times as often as they would offer introductions to people with any of the other conditions. NIMH director Thomas Insel recounted a time during the 1970s when an autistic child was admitted to Boston Children’s Hospital; the chief of service called the residents together to observe him, reasoning that they might never see an autistic child again. On Insel’s own street today, which has nine houses, two children have autism. Steven Hyman, former head of the NIMH and former provost of Harvard, said, “The growth in the diagnosis of the autism spectrum reflects destigmatization and broader education. Does that mean that there is no increase in incidence? No, but it confounds our ability to tell.” Several studies applying current diagnostic criteria have shown that people who were once considered nonautistic would be considered autistic by current criteria, though such work is always somewhat speculative.
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