Research on Screening and Diagnosis

Karen Weintraub writes for the Connecticut Health I-Team:

Although the average age of diagnosis is nearly four-and-a-half, diagnoses can reliably be made around age 2, according to Amy Daniels, of the advocacy and science group Autism Speaks, which was founded by longtime Fairfield residents Bob and Suzanne Wright.

In a study, Daniels found gaps in the current system, which relies largely on pediatricians to flag kids for later diagnosis and treatment.

“There’s a lot of questions about what happens to these kids after they screen positive,” said Daniels.
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Obviously a genetic screen or simple blood or urine test would be ideal, but that’s unlikely to ever be possible, researchers said. Autism has been linked to at least 500 genes so far, and each child’s genetic pattern is distinct. Researchers at Harvard University used a 55-gene panel to try to predict autism – but they were right less than 70 percent of the time, and were even less accurate among girls, according to their 2012 study.
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Another group of researchers led by Rebecca Landa, head of the Center for Autism and Related Disorders at the Kennedy Krieger Institute in Baltimore, found that children diagnosed with autism didn’t have good head control in infancy – lagging their heads behind when they were pulled to a sitting position, according to a 2012 study.

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In a 2012 study, [Stephen] Sheinkopf showed that babies later diagnosed with autism had unusually high-pitched cries and also something called dysphonation – essentially a noisy signal in their cries. The differences were too subtle to be noticed without audio equipment, he said, so parents won’t be able to detect this on their own.

He’s now working to standardize the analysis, but isn’t sure crying will ever be a precise enough indicator to be the basis for a diagnosis.

“It’s unclear whether it’s going to be something specific or more generally indicative of risk,” he said.