Autism is an extremely complex diagnosis. Parental insight, physician observations and hours of data can factor into determining whether a child actually has the condition or is just a little on the quirky side.
Now a Harvard researcher, Dennis P. Wall, has published research about a Web-based tool he developed that promises to diagnose autism in minutes, not hours — a proposition that Wall has floated for some time now and has some autism experts so skeptical they’re not even willing to speak on the record about it.
Wall, director of the computational biology initiative at the Center for Biomedical Informatics at Harvard Medical School and associate professor of pathology at the school, combines computer algorithms along with a seven-point parent questionnaire and a home video clip to make a speedy online assessment of whether a child has autism.
Wall’s reliance on a quick questionnaire and video of the child playing could supplement or replace more comprehensive exams such as the commonly used behavior-based Autism Diagnostic Observation Schedule (ADOS), which evaluates social interaction, language impairments and autism-specific behaviors, and the more intensive, 93-question Autism Diagnostic Interview, Revised (ADI-R). Together, these evaluations can take four hours or even longer, which Wall says is simply too long. Instead, Wall’s method would not even require the child to be seen by a clinician; it relies on seven questions that parents answer via an online portal and on an examination by a trained analyst of a two- to five-minute home video of the child in a play environment. The diagnosis is completed by the end of the video using the parent’s answers to the seven questions and the video analyst’s answers to eight additional questions.
When Wall compared diagnostic results from his artificial-intelligence method with more conventional exams, he found his method’s accuracy — asking seven questions versus 93 — stacked up favorably, according to research published Tuesday in Nature Translational Psychiatry. He compared diagnostic results from his method with results from more than 2,700 people who took the ADI-R. “I want to enable every family to get access to diagnosis, whether that’s in a waiting room or via an iPad,” says Wall.
Of course every family should have access, says Catherine Lord, who developed the ADOS and serves as director of the Center for Autism and the Developing Brain at N.Y. Presbyterian Hospital. But she and other experts are skeptical that administering a quickie version of the more standard exams is a sound way to reach a diagnosis.
“Arguing you should do this via a five-minute video and a seven-minute questionnaire is ridiculous,” she says. “Even if you do identify a child with autism, it’s not an adequate diagnosis. You still are going to have to talk to parents and interact with the child.”
While Wall acknowledges that the more traditional exams are “incredibly powerful for their diagnostic validity,” he thinks they’re impractical. Clinicians who are trained to administer the exams may not be widely available, especially in rural areas, and the wait from the first warning sign until formal assessment can stretch to 18 months, at least in Massachusetts, where Wall works. As a result, he says, kids are being diagnosed, on average, at age 5.7, which is long past the point at which early intervention could have begun. Relying on his online assessment can enable rapid detection and earlier diagnosis, which is important in light of reports that more children than ever are being diagnosed with autism — 1 in 88 U.S. kids in comparison to the previous estimate of 1 in 110. “Our goal is to bridge the gap and take it from 18 months to days,” says Wall. “The gold standard tests take too much time. We need tests that are as good but can be administered at a rate that scales with the increasing size of the population that’s at risk.”
Focusing on the actual diagnostic exams overlooks the fact that most initial autism diagnoses are made in the course of office visits, via observation and not via formal exams. Children are then referred for confirmation to specialists — developmental pediatricians, for example, or psychologists or psychiatrists. Although there are indeed waitlists at the most prestigious clinics, many states and school systems have mandated periods of time between referral, assessment and the onset of treatment.
It’s challenging to develop a reliable substitute for face-to-face evaluation, says Lord. “There is something about sitting down with a family and hearing what the child is like in various circles,” she says.
For his part, Wall is more than aware of the dubious reaction his test has evoked in leaders in the autism field. Yet he’s hopeful they’ll be open-minded for the good of children who have autism but don’t yet know it. Says Wall: “I think there’s a way for us to all play together.”