Researchers Zero In On the Best Way to Diagnose Autism

Autism is a complex developmental disorder, and diagnosing it properly usually involves a combination of different tests. In the latest issue of JAMA, scientists provide the most up-to-date assessment yet of which tests work best for detecting genetic mutations associated with certain kinds of autism. Categorizing the various forms of autism will be important to guide parents to the proper care, the researchers say. Traditionally, autism is diagnosed with behavioral tests that assess whether kids are meeting developmental milestones, such as talking, interacting with their parents and siblings, and learning to give and take in social situations. In recent years, researchers have been working on other ways to detect and potentially diagnose autism. Scientists have identified more than 100 genes connected with a higher risk of developing autism.

Stephen Scherer, director of the center for applied genomics and a professor at the Hospital for Sick Children in Toronto, and his colleagues conducted a comparison test to see how the genetic tests matched up, both against each other and against the more conventional behavioral evaluations. The two genetic tests were roughly equally capable-around 8-9%-of detecting autism. Regardless of the fact they perform similarly, however, more labs and clinicians are favoring whole-exome sequencing, says Scherer. That’s concerning because the two genetic tests pick up markers for different kinds of autism, and excluding the other test in favor of the more high-tech whole-exome sequencing would miss about half of the possible genetic predictors of autism. Together the two gene-based tests can diagnose nearly 16% of cases.

Source/more: Time

David Wingate is an Elder Law Attorney with the Elder Law Office of David Wingate. The Elder Law Office works in Frederick and Montgomery Counties, Maryland. The elder law practice consists of Powers of Attorneys, Wills, Trusts, Medicaid and Asset Protection.