Unmasking autism
University of Minnesota researchers lead the charge to understand this disorder at its earliest stages and to support families along the way.
Parents these days can access a wealth of advice, thanks to our modern information society. But a diagnosis of autism brings uncertainty and questions—about how it happened, what to expect in the future, and how best to support the child.
At the University of Minnesota, some of the world's top researchers are supporting these parents and their autistic children. Their work takes various forms, but they are united in their devotion to serve.
“We share a rather simple vision—to help a specific child and their family with the right support or intervention at the right time,” says Jed Elison, a professor in the College of Education and Human Development.
Catherine Burrows encourages activity from a child, who is sitting on their mother's lap.
While the American Medical Association lists “persistent impairments in social communication, restricted interests and repetitive behavior” as symptoms that define autism, the type and severity of symptoms varies widely.
“In order to personalize and individualize support, we need to first understand the remarkable diversity that defines autism,” says Catherine Burrows, a psychologist and associate professor in the Medical School’s Department of Pediatrics. Burrows and colleagues, says Elison, are doing just this by “advancing a more precise understanding of very early development and especially similarities and differences in the way autism manifests in girls and boys.”
Individualized support for parents may include, for example, advice for interacting with their children. Amy Esler, a professor in the Department of Pediatrics, offers a potential scenario:
“Young children with autism can become focused on playing with toys on their own, often in repetitive ways,” says Esler. “Parents can work on turning that play more interactive by joining in on their interests and adding a small step to build on it. For example, if a child is fascinated by watching wheels spin, a parent could set up a game of taking turns rolling a toy car down a ramp.”
This work comes with important clinical implications.
![[Left to right] Catherine Burrows, Meghan Swanson and Jed Elison seated in front of a brain scan.](/sites/twin-cities.umn.edu/files/brain_scans.png)
A biological disorder
“Notably,” says Elison, “it was parents of autistic children who led the field toward an initial exploration of the biological origins of autism. Early studies of identical and fraternal twins, replicated on many occasions over the past 50 years, point to the strong role of genetics in autism.
“In many autistic individuals—25 percent by some estimates—a specific but rare genetic mutation appears to be the cause. In another 60 to 70 percent of autistic individuals, scientists believe that commonly inherited genes work together to cause autism. But gaps remain in our knowledge of how this process works.”
Says Burrows: “In order to understand the underlying biology, we have to first better understand the diversity of how autism manifests, from the 15-year-old who doesn’t communicate with spoken words to the 7-year-old who is eager to tell you which president founded the Bull Moose Party.”
Together, these researchers have led multi-institution studies that revealed ways biology works in autism, even though there’s no single cause. They perform most of their work at the Masonic Institute for the Developing Brain.
Autism and Developmental Disabilities Monitoring (ADDM) Network
The University of Minnesota is one of 16 sites in the Centers for Disease Control's Autism and Developmental Disabilities Monitoring (ADDM) Network, which tracks the number and characteristics of children with autism throughout the United States.
The institute includes the Autism & Neurodevelopment Clinic, where Esler is section head.
Also in the institute, says Swanson, “We have our own dedicated MRI research scanner and state-of-the-art facilities to carry out the most innovative and forward-thinking studies, to support children and families.”
Closing the diagnosis gap
“Until recently, four times more boys were diagnosed with autism than girls,” Burrows says. “Currently, females represent one of the fastest-growing groups getting diagnosed. However, medical providers still think of autism as a male-dominant disorder, and the most common autism screening tools work better for boys.”
In her research, Burrows is addressing these historical biases, which work against autistic females receiving a diagnosis.
“Most of what we know about autism comes from studies that were over 75 percent male,” she says. “We’re only just starting to learn about how autism can present differently in females."
In a recent study, Burrows, Elison, and colleagues examined 4,550 children aged 3 and under, which is younger than the average age of autism diagnosis in the United States.
“Our unique approach was to focus on infants with an older sibling who had been diagnosed with autism. One in five of these younger siblings will go on to be diagnosed with autism,” Burrows says.
The researchers studied sex differences in specific behaviors such as difficulties maintaining eye contact, which is one of the best-known early symptoms of autism.
“By looking at specific traits, rather than overall levels of symptoms, we can tease apart subtle sex differences in autism,” Burrows says.
In the study, autistic girls and boys showed similar—and significant—impairments in overall social communication compared to non-autistic children. But among non-autistic children, girls showed higher social communication abilities than boys.
A study design that allowed researchers to compare children with autism to typically developing children was important because, Burrows notes, "In early childhood, girls show more advanced language and higher social motivation. But most autism diagnostic tools don’t consider sex differences in typical development.
“I’m most interested in girls who fall in the fuzzy diagnosis boundary between typical and atypical development,” Burrows says. “We don’t usually see these milder cases in the clinic, especially early on. The current autism identification and intervention system isn’t built for them.”
Burrows' research goals include finding better approaches to autism screening, as well as interventions for late-diagnosed girls.
Autistic brains in focus
In another recent study, Elison and Swanson worked with College of Education and Human Development professor Jason Wolff and colleagues at other top universities to produce MRI images of brains in infants as young as 6 months. In infants later diagnosed with autism, the scans showed “hyper-expansion” of the cerebral cortex at 6-12 months of age and overgrowth in the brain’s volume at 12-24 months.
“There is not one brain feature or difference that defines autism. Nor is there anything that you can see on an MRI that defines autism," Elison cautions. The team is working with collaborators across the country to confirm “whether specific patterns of brain development will predict whether a given child will later receive a diagnosis of autism.”
Brain scan images side-by-side.
Parents are key
While University of Minnesota scientists are researching means to identify children who will need autism support, they are quick to acknowledge the role of parents in this work.
“We recognize that receiving an autism diagnosis for your child is life-changing news,” Burrows says. “We want to meet each family where they are. Some parents need time to process, while others are ready to jump into action mode.
“The team at the University of Minnesota has the resources to help parents wherever they are in this process. Our research will help the families of tomorrow to better identify early concerns in their child and support them with tailored intervention as soon as possible."
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