A quest to detect earliest signs of autism

A recent issue of the journal Science with the theme “What Don’t We Know?” was organized around 125 of the most pressing and difficult scientific questions of our time. There, alongside the grandiose, perennial puzzlers like “What is the universe made of?” was a somewhat different, but no less vexing, sort of question: “What causes autism?”

More than 60 years after autism was first identified, it remains among the most mysterious and intractable psychological disorders. And the disability at the heart of autism—profound isolation that emerges in early childhood—undermines social bonds that are basic to human nature.

For autistic children and their families, the medical school’s Child Study Center (CSC), a landmark facility for the study of child development, is both a source of comfort in their day-to-day struggles and a beacon of hope for future scientific breakthroughs. Most institutions devoted to autism focus either on research or on clinical care, but at the CSC, cutting-edge research—in genetics, diagnostic techniques, neuroscience and pharmacology—is tightly intertwined with the most effective treatments in the clinic.

Autism is often described as arising “out of nowhere” during the second year of life. But according to Katarzyna Chawarska, Ph.D., assistant professor and director of the CSC’s autism screening program, many parents say in retrospect that they noticed subtle anomalies in their child’s behavior well before full-blown symptoms first appeared. Chawarska says that developing methods to consistently, accurately measure behavioral differences as early as possible—a strategy Science cited as the key to successful intervention in autism—is now “one of the hottest topics in the field.”

In July 2004, the Simons Foundation, a philanthropic organization headed by the husband-and-wife team of Marilyn Hawrys Simons and James H. Simons, announced a major new initiative to fund autism research, and they asked the CSC’s Ami J. Klin, Ph.D., Irving B. Harris Associate Professor of Child Psychiatry, to propose a project that would decisively advance the field.

In studies of older children and adults using special cameras and software that calculates precisely where a subject’s gaze is directed at any point in time, Klin and research scientist Warren Jones had shown that autistic subjects pay far less attention to socially relevant information—facial expressions, for example—than do normal subjects when viewing human interactions on a screen. Klin suggested that an adaptation of the technique could harmlessly track the eye movements of newborns and infants. By pinpointing the time during early development when autistic children’s patterns of gaze begin to reflect a shift away from social engagement, Klin reasoned, it might be possible to provide interventions that steer them in a more normal direction.

Klin’s audacious plan called for a study on a scale never seen before in autism research: screening 150 infants—including 120 high-risk siblings of older children with autism—immediately after birth, every month for the first six months, every three months until 18 months of age and every six months after until age 3.

The ambitious scope of Klin’s proposal won over the foundation, which awarded $2.6 million to launch the project in the newly constructed Simons Laboratory of Social Neuroscience in Infancy.

“In our field there are very few things more expensive than a prospective study of the unfolding of socialization in the first two years of life,” Klin says. “But the social mind and brain develop at great speed, and disruption of this process in autism could happen at any stage. Sampling a child’s development only once or twice would greatly reduce the power of our methods.” Emboldened by the foundation’s vote of confidence, he says, “we might be able to find vulnerability to autism as early as the first month of life.”