Upstate researchers inch closer to a prototype saliva test to diagnose autism

SYRACUSE, N.Y.-- Could a small saliva sample aid in the early diagnosis of autism?

Researchers at Upstate Medical University believe they are getting close to making this a reality.

Autism is a developmental disability that affects one in 68 children, often affecting their ability to learn, communicate and interact with others. There is no known cure for autism.

Currently, there is also no medical test that can diagnose autism. Diagnosis is made after health care professionals evaluate a child’s behavior. The purpose of the federally funded study is to explore the possible use of saliva in helping to make this diagnosis. Researchers have already collected and analyzed saliva samples from 400 children.

Saliva contains microRNA, which might affect how a child’s brain works.  Finding microRNA particles with altered levels in children with autism may lead to an earlier diagnosis of disorder and the delivery of more efficient services for these children.

“This study helps us understand what changes may be occurring in the brain of a child with autism spectrum disorder,” said Frank Middleton, PhD, principal investigator of the study, “Validation of a Salivary miRNA Diagnostic Test for Autism Spectrum Disorder,” which is sponsored by the National Institutes of Health. The ongoing study is being conducted in collaboration with Upstate alumnus Steve Hicks, MD, PhD (now at Penn State Hershey Medical Center) and is also sponsored by Quadrant Biosciences, Inc., a StartUp NY company based on the Upstate campus.

Just over two decades ago, scientists discovered a new way that cells control the different kinds of proteins that they express. This mechanism involves the synthesis of short strands of ribonucleic acid (RNA) that were given the name microRNA. In humans, there are more than 2,000 different microRNAs. Each of these microRNAs can block the expression of dozens to hundreds of distinct proteins. The specific microRNAs that are found in a biological sample can thus indicate what proteins are being shut off.

“The study is very close to having a finished prototype, with a performance that rivals the widely-used rapid Strep or influenza tests,” said Dr. Middleton, who added, “What it will benefit the most from at this point is additional participants to further establish the validity of the test.”

The encouraging results are leading researchers to expand the study with the goal of enrolling an additional 750 to 800 children.

Here’s how the study works: A clinician will ask parents some questions about how the child thinks and acts, and then watch the child perform some simple games and tasks that are routinely used to diagnosis autism. Finally, to measure microRNAs, a small amount of saliva will be collected from the child’s mouth using a soft absorbent swab. The study will not have any effect on how a child behaves.

Children who are between the ages of 18 months and 6 years and who have a diagnosis of autism spectrum disorder or developmental delays are eligible to participate in the study.

The group just submitted a full-length report of its work for publication based on results from 436 children, and will be presenting findings next month at the Pediatric Academic Societies Meeting in Toronto, Canada, and at the International Society for Autism Research Meeting in Rotterdam, Netherlands.