Upstate Medical researchers work on prototype saliva test to diagnose autism

SYRACUSE — Could a small saliva sample aid in the early diagnosis of autism?

Researchers at Upstate Medical University say they believe they are getting close to making this happen.

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

No medical test that can diagnose autism is currently available, according to a March 30 Upstate Medical news release. 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, Upstate Medical said. The study is titled, “Validation of a Salivary miRNA Diagnostic Test for Autism Spectrum Disorder,” and is sponsored by the National Institutes of Health.

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 the 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,” Frank Middleton, Ph.D., principal investigator of the study, said in the release. 

The ongoing study is being conducted in collaboration with Upstate Medical University alumnus Steve Hicks, M.D., Ph.D. (now at Penn State Hershey Medical Center) and is also sponsored by Quadrant Biosciences, Inc., a Start-Up NY company based on the Upstate Medical 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 called microRNA. Humans have 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 therefore indicate what proteins are being shut off, the release stated.

“The study is very close to having a finished prototype, with a performance that rivals the widely used rapid Strep or influenza tests,” Middleton said, adding, “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 another 750 to 800 children, Upstate Medical said.

The organization said the study works like this: 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 diagnose 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, Upstate Medical said.

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 research group recently submitted a full-length report of its work for publication based on results from 436 children, and was expected to present findings at the Pediatric Academic Societies Meeting in Toronto, Canada, and at the International Society for Autism Research Meeting in Rotterdam, Netherlands.         

SYRACUSE — Could a small saliva sample aid in the early diagnosis of autism?

Researchers at Upstate Medical University say they believe they are getting close to making this happen.

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

No medical test that can diagnose autism is currently available, according to a March 30 Upstate Medical news release. 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, Upstate Medical said. The study is titled, “Validation of a Salivary miRNA Diagnostic Test for Autism Spectrum Disorder,” and is sponsored by the National Institutes of Health.

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 the 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,” Frank Middleton, Ph.D., principal investigator of the study, said in the release. 

The ongoing study is being conducted in collaboration with Upstate Medical University alumnus Steve Hicks, M.D., Ph.D. (now at Penn State Hershey Medical Center) and is also sponsored by Quadrant Biosciences, Inc., a Start-Up NY company based on the Upstate Medical 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 called microRNA. Humans have 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 therefore indicate what proteins are being shut off, the release stated.

“The study is very close to having a finished prototype, with a performance that rivals the widely used rapid Strep or influenza tests,” Middleton said, adding, “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 another 750 to 800 children, Upstate Medical said.

The organization said the study works like this: 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 diagnose 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, Upstate Medical said.

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 research group recently submitted a full-length report of its work for publication based on results from 436 children, and was expected to present findings at the Pediatric Academic Societies Meeting in Toronto, Canada, and at the International Society for Autism Research Meeting in Rotterdam, Netherlands.