Making sense of autism

These days, autism is a hot topic, but the disorder’s high profile is a relatively recent development, says Fred R. Volkmar, M.D., director of the School of Medicine’s Child Study Center (CSC). Oftentimes during the 1980s, when he would tell people he worked with autistic children, “they’d say, ‘Oh, artistic children. We need more childhood artists,’” Volkmar recalls with a chuckle.

Volkmar can claim some credit for the far greater public awareness and understanding of autism seen today. Between 1990 and 1994, he spent much of his time coordinating a nationwide trial to refine the formal classification of autism that appears in DSM-IV-TR, the most recent revision of the American Psychiatric Association’s Diagnostic and Statistical Manual of Mental Disorders, the bible of psychiatric diagnosis. The data-based trial involved more than 20 sites and the evaluation of about 1,000 people by more than 100 raters, and was funded by both the MacArthur Foundation and the National Institutes of Health (NIH).

A native of Southern Illinois, Volkmar, Irving B. Harris Professor of Child Psychiatry, Pediatrics, and Psychology and CSC director since 2006, came to Yale in 1980 after graduate training at Stanford Medical School.

It was a propitious time: 1980 was the year in which autism was first formally recognized as a diagnosis in the DSM. Yet, despite the four decades that had elapsed since Johns Hopkins psychiatrist Leo Kanner, M.D., published a seminal description of autism in 1943, the disorder was still poorly understood, and it was frequently misdiagnosed as mental retardation or schizophrenia. Volkmar set out to provide the world with a clearer picture.

“The thing that’s so compelling about childhood autism is that these are children who seem to live in their own world, they’re not so socially connected to other people,” says Volkmar, “but they’re also paying a lot of attention to the nonsocial world. Why that paradox?”

As defined in the DSM-IV-TR, autism is actually a spectrum of conditions that fall along a continuum. At one end is full-blown autism, which features major language difficulties; repetitive, sometimes self-destructive behavior; virtually complete social isolation; and profound intellectual disability. At the other is Asperger’s syndrome, in which social disability accompanies verbal fluency and normal or high intelligence. In between is the less-well-defined diagnostic realm of PDD-NOS, “pervasive developmental disorders, not otherwise specified.”

For many psychiatric disorders, diagnostic standards in the DSM do not align with its international counterpart, the World Health Organization’s International Classification of Diseases (ICD). “We worked with the ICD people, so that the American and international systems are congruent,” Volkmar says. “We believed this compatibility would stimulate research. In fact, research has exploded over the last five to 10 years.”

Volkmar continues to focus on sharpening the diagnosis of autism. In a January paper in the Journal of Child Psychology and Psychiatry, Volkmar and CSC colleagues review the changes in our understanding of autism and its diagnosis since the publication of DSM-IV-TR. They present a plan for the next 10 years, emphasizing the diagnosis of young infants and more cognitively able adults, and ways to utilize findings from the latest genetic research

Under Volkmar’s direction, the CSC, an NIH-designated Autism Center of Excellence, continues to cement its reputation as a world leader in autism research (see related story).

“I think there’s going to be more agreement,” Volkmar says. “The diagnostic part is kind of settled, and we can work on other things. The government is putting more money into research, and parents are willing to come out and advocate for it.”