Multiple programs underway at MUSC
to improve care for people with autism
The Charleston Chronicle
By Leslie Cantu, MUSC Catalyst
April 25, 2019
The Centers for Disease Control and Prevention estimates that 1 in 59 children in the U.S. have been diagnosed with autism spectrum disorder. The diagnosis includes autism as well as conditions that were previously known as Asperger’s syndrome and pervasive developmental disorder-not otherwise specified.
Scientists think autism is caused by interactions between genes and the environment, but no one knows exactly why it appears or manifests differently in different people.
“Autism has many million dollar questions, and I love that we’re an active site here to hopefully get some answers,” said Silvia Pereira-Smith, M.D., a developmental-behavioral pediatrician at MUSC.
MUSC has nationally known experts in autism, she said, pointing out that Laura Carpenter, Ph.D., was asked by the American Academy of Pediatrics to speak at a training conference about autism behavioral interventions.
Here are a few of the autism studies underway:
Smartphone screening for autism
Carpenter said MUSC participated in a study of a smartphone app to identify children at risk of autism and continues to work with Cognoa, the app creator, to refine it.
Nationwide, parents face a six-month wait between the time concerns about autism are raised and when they can actually get their children in to see a specialist for evaluation. The app, which includes an option for parents to upload videos of their children, could help push children most at risk to the front of the line, Carpenter said.
“If we could do a better job of identifying the kids who are truly at risk for autism and getting them in quickly, while also excluding those kids who aren’t at risk for autism, I think we could get through the waitlist much quicker,” she said.
Although families don’t need an official diagnosis to begin therapy, Carpenter said, doctors and health care providers would like to be able to give them answers in a timely manner.
Blood test for autism
MUSC is now recruiting participants for a study seeking to develop a blood test for autism.
“There’s no gold standard confirmatory blood test the way there would be with cancer or other medical concerns,” Carpenter said.
Greenwood Genetic Center is leading the study with participation from MUSC and the University of South Carolina.
Right now, the earliest that autism can be identified is between 15 and 18 months old, and it’s almost impossible to identify before children reach their first birthdays.
“If we had a blood test, we could identify kids at risk at birth and then start to do some early intervention that would change their trajectory entirely,” Carpenter said.
