Jessica Simacek was nearly eight months pregnant when her son, then a toddler, received a diagnosis of autism spectrum disorder (ASD). That meant that her unborn baby had a nearly 20 percent chance of developing the condition as well. 

As an autism intervention researcher at the University of Minnesota’s Institute on Community Integration, Simacek knew that the earlier a child is diagnosed and receives treatment, the better the outcome because younger brains are more flexible and, therefore, more receptive to therapies. 

Yet, according to the Centers for Disease Control and Prevention, the average age of an autism diagnosis is around 4 years old (5 in Minnesota) because that’s when behavioral symptoms generally begin to show. Simacek didn’t want to wait that long to find out. 

“I’m somebody who is comforted by taking action. That information, to me, is powerful,” she says. Learning early on about her son’s diagnosis allowed the family to start therapy sooner. She hoped to be able to do the same for her unborn baby, if he or she needed similar services.  

Families like Simacek’s may soon know even earlier whether their child has ASD. At the U’s Institute of Child Development, associate professor Jed Elison is using magnetic resonance imaging (MRI) to predict with a high  degree of certainty whether high-risk babies as young as 6 months old are likely to develop the condition. 

His lab, the Elison Lab for Developmental Brain and Behavioral Research, has been scanning the brains of infants and toddlers for the past five years and is the newest member of the National Institutes of Health (NIH)-funded Infant Brain Imaging Study (IBIS) Network. The member institutions track brain and behavioral development in infant siblings of children with autism. 

Using brain imaging data, Elison and his colleagues have been able to predict with more than 80 percent accuracy which infants will eventually meet the criteria for an autism diagnosis. Simacek’s baby girl, who was born in October, is participating in the infant-sibling study and has already received her first brain scan, as well as several developmental assessments.

GAME CHANGER

Elison first began studying children with autism as an undergraduate research assistant at the University of Utah. After working with school-aged kids in a social-skills group, he realized his intellectual curiosity was eclipsed by a more personal mission. “I decided that there was an opportunity for me to contribute and help these families,” he says. “Scientifically, I’m willing to explore any tool at my disposal to help.”

As a graduate student at the University of North Carolina at Chapel Hill, he met a researcher who was already doing MRI research in people with autism. It was there that IBIS first began, and Elison was part of the initial attempt to use MRI to characterize development in high-risk infants. Until then, researchers were limited to studying brain development in people who already had a diagnosis. Elison then spent two years studying advanced neuroimaging and social neuroscience at the California Institute of Technology before coming to the University of Minnesota in 2013 and making it part of the IBIS Network.

Elison has since discovered that MRI can provide precise information about how the brain’s architectural structure forms during the first two to three years of life—a critical period of development. It also shows how different regions of the brain work together as a network to produce complex behavior. He and his colleagues found that infants with autism who do not yet show symptoms have a different, recognizable pattern of connections among regions of the brain. This finding upended earlier theories of autism—the condition was not, in fact, associated with a discrete, atypical area of the brain but instead by a vast constellation of irregular connections and growth patterns.

The work is particularly significant in Minnesota, which has an exceptionally high autism rate. One in 42 children in the state is diagnosed with ASD by age 8 (higher than the national rate of 1 in 59). Says Elison, “If we can validate the utility of MRI-based prediction, and subsequently develop intensive behavioral interventions for young children, this is going to be a game changer for how we address autism in the future.”

For the IBIS Network studies, infants with siblings who have autism first participate when they’re 6 months old, then return at 12 and 24 months of age. During those visits, they receive developmental assessments and MRI brain scans. Parents also complete questionnaires about their child’s growth and behavior. Two years later, after some of the children have been diagnosed with autism, researchers use a computer-based technology called machine learning to identify patterns of brain development that indicate whether a child is at increased risk for autism at 2 years of age. 

This has allowed them to create an algorithm that can predict with 80 percent accuracy which children will receive an autism spectrum diagnosis at 24 months of age based on their 6-month scans. 

TESTING AND TREATING

The infant-sibling work has involved 600 children over 12 years at five IBIS clinical sites. The newest phase, which launched in April, is a five-year study to replicate and extend the initial findings; it will be funded with a recently announced $9.5 million NIH grant to the IBIS Network. The NIH also awarded $3.7 million to Elison and U of M associate professor of psychiatry Suma Jacob to improve early population-based screening. 

Elison and Jason Wolff, a McKnight Presidential Fellow and associate professor of educational psychology in the U’s College of Education and Human Development, will be co-investigators of the IBIS grant and will lead efforts in Minnesota to recruit families for the study.

Meanwhile, Elison, Wolff, and Simacek are working together to develop effective therapies for those prediagnosed infants (no therapies for infants exist yet). Elison expects these will involve both parent training and behavioral therapies for the child. 

Elison says research funds he’s received both from a McKnight Land-Grant Professorship and the Paul Citron and Margaret Sughrue Carlson Fund for Autism Spectrum Research have made his work possible and led to the much-larger NIH grants. “I’ve been able to support trainees, graduate students, and postdoctoral fellows to work on data and to acquire expertise in the early identification of autism and the methods that we use,” he says. “Those funds essentially augment everything that we do.” 

He says he’s looking forward to working in a fully modernized and expanded Institute of Child Development facility when the century-old building finally gets a much-needed renovation, thanks in part to private gifts. Elison and his team must now travel to and from borrowed research space on the St. Paul campus. 

As for Simacek, she and her husband have already received some early assessments, and their daughter is doing well. “We just want to enjoy her as a baby and not be worried each month that she’s falling behind and we’re going to miss it somehow,” she says. “It gives me peace of mind to know that she’s being monitored, so if any needs arise we can get her support as soon as possible.” 

Laura Silver is a Minneapolis writer.