Researchers develop screening test for rapid diagnosis of autism in toddlers

Snippets of paper reading "Autism Diagnosis" on them.

Snippets of paper reading "Autism Diagnosis" on them.

Researchers at the University of Massachusetts Medical School have created a new screening test to improve the diagnosis of autism in toddlers, a development that could lead to earlier detection and intervention.

According to the Centers for Disease Control and Prevention (CDC), about 1 in 68 children has been diagnosed with autism spectrum disorder (ASD). The developmental disability can cause social, communication and behavioral challenges for patients. There is no medical test for diagnosis, but signs begin during early childhood. Intervention services for young children can help them learn to talk, walk, and interact with others.

Recognizing the early signs of autism is important because a diagnosed toddler is then eligible for intensive services that have been proven to improve outcomes, said Dr. Roula Choueiri, chief of division of developmental and behavioral pediatrics at UMass Medical School. Toddlers are able to communicate better, integrate better in school, improve their social and play skills. Some have even lost their diagnosis of autism because of the progress they make with services, she added.

“It’s tremendous for autism spectrum disorder,” Choueiri told “We really need to encourage, educate and push for ways we can recognize early autism signs and get toddlers to diagnoses and [therefore] access to services. We see it, clinically, every day— children improve tremendously.”

Early signs of autism can be very subtle and difficult to recognize. For first-time parents or parents of another culture, being unaware of developmental milestones or having different cultural expectations about child development can hinder recognition.

“It’s very hard to put the onus on parents to bring up their concerns to the pediatrician or family practice physician,” Choueiri said. “This is why we recommend doing regular screenings. There are developmental screenings pediatricians can do with parents to try to illicit if this child is where he or she should be, development-wise.”

The American Academy of Pediatrics recommends that all children be screened specifically for ASD during regular well-child doctor visits at 18 months and 24 months. At this time, early signs include: the child does not always make eye contact, has a delay in language, does not answer consistently to his or her name, and is not interested in playing with other children.

“It’s very difficult to pick up concerns,” Choueiri said. “Universal screening is important because it does help one to build the conversation.”

While the level 1 universal screening does pick up on developmental delays, it tends produce a high number of false-positive results for ASD, Choueiri said.

Toddlers who have a positive level 1 test or who exhibit possible symptoms of ASD are referred to diagnosticians, but the high number of referrals and lack of specialists mean long wait lists. For children who do have ASD, they lose precious time to start services because of this lag, Choueiri said. The UMASS team’s test, Rapid Intervention Screening Test for Autism in Toddlers (RITA-T), would serve as a level 2 test to identify toddlers who have a real ASD risk.

The level 2 test currently in use, Screening Tool for Autism in Toddlers & Young Children (STAT), meant for children between 24 and 36 months of age, takes 20 minutes to administer, is complex to learn, and tends to better identify the severe forms of ASD than the minor forms, Chouieri said. The STAT test assesses imitation, play, requesting and directing attention.

According to the UMass team, RITA-T is easy to train clinicians to use, takes 10 minutes to administer and score and is interactive and play-based to try to illicit and measure specific skills. In research published in the August issue of The Journal of Pediatrics, the team studied a group of 61 toddlers between 18 and 36 months old. Half of the group had no developmental concerns, while the other half had been referred because of concerns about either developmental delays or ASD. They found that RITA-T correctly predicted 88 percent of ASD in the high-risk group.

The test uses nine activities to observe a child’s reaction in areas known to represent early signs of ASD: joint attention, social awareness, reaction to emotions, awareness of human agency and some fundamental cognitive skills.

For example, to study joint attention, a child is given a toy, then it is taken away by an adult. A typically developing child will look at the adult, look at the object, then look back at the adult to observe the adult’s reaction. A child at risk for ASD will look at the object, rather than the adult.

Moving forward, the team is working to develop different models for faster diagnoses, such as integrating the level 1 and 2 tests so that a child’s pediatrician does both, rather than waiting for a specialist for the second test.

“We really want to have a model where we’re using more efficient screenings so we can get kids in early and can get them in faster,” Choueiri said.

Researchers hope that RITA-T can lead to earlier access to services for toddlers with ASD

“Once they start to get treatment, I’ve seen children make progress very quickly at this age, under 3,” Choueiri said. “Ages zero to three are so important and we can still change the course of the disorder.”