Autism Spectrum Center | Diagnostic Test Development

Through better tests, researchers in the Autism Spectrum Center hope to provide an ASD diagnosis for children at the youngest possible age—ideally, before they begin showing outward symptoms of autism.

Infant Sibling Study: Using electroencephalograms (EEGs) to examine the brain’s electrical activity, researchers led by Charles Nelson, PhD, have found subtle differences in brain organization and function in infants at increased risk for autism at as early as six months of age. Though further validation is needed, the researchers hope to create an inexpensive, noninvasive EEG test for autism. Read more.

Chromosomal microarray analysis (CMA): In 2010, a team led by Bai-Lin Wu, PhD, and David Miller, MD, PhD, of Boston Children’s, showed that CMA, a genetic test that samples the entire genome, has about three times the detection rate for genetic changes related to ASD than standard tests. CMA looks for tiny deletions or duplications of DNA and is now used routinely at Boston Children’s. Read more.

Gene expression blood test: Based on work by Louis Kunkel, PhD, and Isaac Kohane, MD, PhD, a company called SynapDx is developing a blood test for autism that looks at patterns of gene activity, or expression. The test is now in clinical development, and a multicenter clinical trial was recently completed (William Barbaresi, MD, and Elizabeth Harstad, MD, were lead investigators at Boston Children’s). Read more