Could a spit test identify autism in children? Researchers seek early diagnosis


A research study at Upstate is employing a novel method as it seeks to develop a quick, painless tool to help diagnose autism in children.

Swab device for saliva collection

For a research study on autism, this swab is used to gently collect a bit of saliva from a child’s mouth. The blue cap is then unscrewed, inverted and screwed back on, immersing the saw in a tube of stabilizer solution as it awaits analysis.

Using a simple swab — like a one-headed Q-tip with a spongy head — researchers collect a bit of saliva from a child’s mouth, immerse the swab in a tube of stabilizer solution, screw it shut and send it for analysis.

The saliva is analyzed for tiny particles called microRNA, which were shown in the study’s first phase to be highly reliable markers for autism spectrum disorder, or ASD. For the child, the parents and the researchers, saliva is much easier to collect and store than blood or urine.

As the researchers study microRNA and its relationship to ASD, they also hope to develop an easy-to-use tool that ASD specialists could use alongside their current diagnostic methods, which involve observing a child’s behavior and development. The tool would supplement, not replace, current ASD testing.

The researchers are seeking the participation of children ages 2 to 6 who have been diagnosed with ASD or a developmental delay, such as speech or motor skills, with a suspected diagnosis of ASD.

ASD is a complex developmental disability that emerges in early childhood and can involve delayed learning of language; difficulty making eye contact or holding a conversation; narrow, intense interests and sensitivities to noise or light.

While there is no cure for autism, early treatment can make a huge difference, and the saliva test could be one way to speed up early diagnosis.

Frank Middleton, PhD

Frank Middleton, PhD

“The goal is to facilitate the process. If having a molecular screening tool that says it’s positive will help accelerate this process in any way to make the diagnosis accurately, in a more timely fashion, it can make a big difference,” says the study’s principal investigator, Frank Middleton, PhD, an Upstate associate professor of pediatrics, neurosciences and physiology, psychiatry and biochemistry. “We also think it can likely be used to monitor potential improvement in a child’s level of functioning.”

The three principal institutions conducting the study are Upstate Medical University, Penn State University and Quadrant Biosciences, which is headquartered at Upstate.  Funding has come from both the National Institutes of Health and a private foundation.

About 600 children are in the study so far (200 children with ASD, 200 with developmental delays, and 200 with typical development, for comparison), and the researchers hope eventually to at least double those numbers.

How to participate

To learn more about the study or to enroll your child, click here or leave a message at 315-464-7729. Participants get a $25 gift card and free parking during the test.

Upstate Health Fall 2017 coverThis article appears in the fall 2017 issue of Upstate Health magazine. Click here to listen to Middleton discuss this autism study in an interview with “HealthLink on Air.”




This entry was posted in autism, genetics, health care, HealthLink on Air, psychology/psychiatry, research, Upstate Golisano Children's Hospital/pediatrics and tagged . Bookmark the permalink.