A Spectrum of Disorders
The urgent search to understand the biological basis of autism
by Ashley Pettus
When Alison finally heard her son Matthew’s diagnosis, she had already spent a night on the Web, terrifying herself, as she puts it, “for the rest of my whole life.” At 18 months, Matthew showed a number of the early warning signs of autism: he didn’t respond to his name or point to objects of interest, he seemed to fixate on spinning things like the washing machine, and he had developed no new words since his 12-month check-up. Alison feared her son might never develop the ability to make friends, converse at the dinner table, or live on his own. The doctor who evaluated Matthew told Alison that her son met criteria for “pervasive developmental disorder not otherwise specified” (PDD NOS), a less severe condition than full-scale autism, and one that, when caught early, often responds well to intensive therapies. “This is one of the best kinds of autism to have,” the doctor explained, holding a stack of treatment referrals. Alison’s grief and shock gave way to a sense of urgency: “I got started on his treatment plan like my hair was on fire.”
In recent years, diagnoses of autism have soared: to as many as one for every 166 children in the United States, according to recent estimates published by the Centers for Disease Control. Much of this increase stems from a broadening of the diagnostic category. Clinicians now recognize a “spectrum” of autistic disorders that encompasses children with mental retardation and little or no language (low-functioning autism) as well as those with high IQs and precocious vocabularies (Asperger’s syndrome). The common thread linking these disparate conditions is a deficit in social relatedness that impairs a child’s ability to communicate, learn, and participate in ordinary life. While some cases improve with rigorous interventions, others remain intractable. Parents like Alison face a morass of competing theories and potential cures in their struggle to increase their children’s chances of recovery.
The growing number of families affected by autism has intensified the scientific search for answers. In the last five years, new technology and funding (much of it from family foundations) have made it possible to address the most pressing questions of causality on a large scale. Harvard researchers from a wide range of disciplines—including genetics, genomics, neurology, cognitive science, developmental medicine, and bioinformatics—have joined a collaborative effort to identify the biological roots of autistic disorders and to develop better methods of detection and treatment. Their efforts promise to yield significant findings in the very near future. But the inherent heterogeneity of autism suggests that a full accounting will likely take longer and may require investigators to look for clues in unexpected places.
“An Extreme Aloneness”
In 1943, the Austrian-born psychiatrist Leo Kanner provided a startling picture of 11 children trapped in their own worlds. The children—all patients at Johns Hopkins Hospital in Baltimore—had previously been labeled “emotionally disturbed” or “intellectually impaired.” Kanner noticed that they shared a number of distinct behavioral and cognitive features: they all had difficulty relating to other people, delayed or unusual language, superior rote memories, and an obsession with sameness and repetition. He described their condition as an inborn disorder of social attachment, which he called “infantile autism.” “There is from the start,” he wrote, “an extreme autistic aloneness that, whenever possible, disregards, ignores, or shuts out anything that comes to the child from the outside.”
1 | 2 | 3 | 4 | continued >
