Multiple programs underway at MUSC to improve care for people with autism

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. 

Improving access to care for Spanish-speaking families

Pereira-Smith is trilingual, speaking English, Spanish and Portuguese, and one of her goals in staying at MUSC as an attending physician after completing her fellowship last June was to provide services to Spanish- and Portuguese-speaking families in their own languages. 

“We have seen a significant number of Spanish-speaking families, and now we’re seeing an increase in Portuguese-speaking families,” she said. 

When she started her fellowship, she would see probably one family per month who spoke one of those languages. Now, she said, she usually sees one such family per week. 

She’ll be teaming up with a Spanish-speaking psychology postdoctoral fellow to offer a Spanish language autism evaluation clinic two to three times per month. 

Preventing elopement

 

About half of children with autism have eloped –  or wandered off –  with a quarter being gone long enough to cause concern, according to a 2012 survey of parents. Children with autism may elope because they enjoy running and exploring; they also may go to a favorite spot to escape a stressful situation or to see something that catches their eye, according to the CDC. But wandering can put children at risk of injury or even death. 

Pereira-Smith said that during the first month of her fellowship, a family told her the Department of Social Services had opened a case because their toddler had figured out how to open the door and walked out of the house overnight. Thankfully, he wasn’t hurt and DSS closed the investigation. But Pereira-Smith became interested in elopement and decided to look into what research had been done. 

“The research regarding elopement behavior in autism – wandering, fleeing, bolting – was practically zilch. There was one seminal paper from 2012,” she said. 

Since then, she said, a handful of papers have been published, and she has a manuscript under review. 

“It’s such a serious, life-threatening behavior, and nationwide, one-third to one-half of families who have kids with autism report that is an active problem,” she said. 

In the second year of her fellowship, Pereira-Smith got an MUSC YES Family Fund grant to create elopement kits to give to families free of charge. The kits include items like door and window chimes to alert families when they’re opened, “stop signs” for families to place on doors as visual cues for children to stop, and printed educational materials, but Pereira-Smith said there’s much more she’d like to include. She’d like to expand upon the Project Lifesaver program that offers GPS trackers for people at risk of elopement – not just people with autism but also people with dementia and Alzheimer’s. 

She also wants to conduct research to determine which items families find most useful. 

“That is where my passion really lies,” she said. 

Parents of preschool-age children with autism are invited to enroll their children in the Greenwood Genetic Center study investigating a blood test for autism. For more information, contact Candace Van Wade at 843-876-8504 or vanwade@musc.edu.