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Unraveling a mystery

Research by Margaret Semrud-Clikeman, Ph.D., is shedding light on how physiological differences in the brains of teens who have Asperger's syndrome may contribute to their social challenges. (Photo: Jim Bovin)

University researchers look for answers on anatomy, early diagnosis, and prevalence of autism spectrum disorders

Margaret Semrud-Clikeman, Ph.D., sees the pain and frustration often when she works with children who have autism spectrum disorders (ASDs) or other nonverbal learning disabilities. The preteens and teens participating in her studies often blame themselves for their outbursts, peer clashes, and trouble making friends—their difficulty in controlling their emotions in general.

Over the summer, those kids got a whole new perspective on their behavior from functional MRI brain scans taken by Semrud-Clikeman, who directs the Division of Behavioral Neuroscience in the University of Minnesota Medical School’s Department of Pediatrics.

With that powerful glimpse inside their heads, the kids saw that their brains may be larger in key spots and “fire” differently in certain situations. And it clicked for them—anatomical and physiological differences may contribute to the social challenges and repetitive behaviors common to children with Asperger’s syndrome, an ASD also characterized by normal linguistic and cognitive development.

“You’ve shown me that my brain is wired differently and this is not all my fault—I’m not just weird,” Semrud-Clikeman recalls hearing from one boy.

It was a revelation, one of many coming out of a variety of University studies examining the roots, associations, symptoms, and prevalence of autism spectrum disorders.

Thanks in part to a $1 million gift from Alfred and Ingrid Lenz Harrison, researchers hope to answer an array of questions, including:

  • Whether biomarkers can help identify children who respond particularly well to certain types of therapy;
  • What we can learn from the development of an ASD mouse model with duplication of chromosome 1qZ1, a genetic error possibly tied to schizophrenia or autism; and
  • Whether children with ASDs have an impaired ability to recognize faces.

For her part, Semrud-Clikeman hopes her research will help children with ASDs better understand and manage their emotional tone.

“Perhaps getting the right help at the right time may alter brain activity and brain development in a positive manner,” she says. “Is there a window of opportunity where these interventions have the most effect?”

Neely Miller (right) fits 6-month-old Jacob Krukoski with a special cap designed to measure electrical activity in his brain while his mother, Erin, holds him. (Photo: Jim Bovin)

Identifying ASDs earlier

While Semrud-Clikeman is studying adolescent brain activity, other researchers at the University’s Center for Neurobehavioral Development are going even younger, peeking at infants’ brain activity in hopes of identifying ASDs earlier.

Today ASDs can be reasonably diagnosed by a child’s third or fourth birthday, but researchers want to see if they can be predicted even earlier, well before language and behavioral symptoms typically arise. Early diagnosis and intervention can help kids with ASDs navigate how to learn, play, and interact with others as they grow.

In collaboration with Boston Children’s Hospital, University researchers are tracking the brain responses of 6- to 24-month-olds who are at higher risk of ASDs (because they have an older sibling with an ASD, which increases their chance of being diagnosed with an ASD to 20 percent). They attach sensors to a baby’s head and monitor the fluctuations associated with various stimuli, such as seeing a picture of his or her mother versus a stranger.

“We measure the electrical activity that occurs in the brain,” says Neely C. Miller, a researcher at the Center for Neurobehavioral Development. “The goal of this study is to find signs that suggest risk of ASDs even before the first birthday, identify any kind of markers that would emerge, and push back the diagnosis as early as possible.”

Children in the study are also assessed using the Autism Observation Scale for Infants (AOSI), which measures specific risk markers for autism in children as young as 6 months.

While Miller expects to wrap up the study by next summer, it’s already providing valuable insight for the 24 participating families.

“We’ve had a few kids score in the range of concern on the AOSI who have been referred to early intervention services,” Miller says. “But we’ve also had some parents’ minds put at ease. They’ve been concerned and feel like their child’s development is being monitored by someone who understands their concerns.”

Digging through data

Another University group is taking a closer look at the demographic data of children who already have been diagnosed with ASDs to determine whether there is a higher prevalence of autism in Somali versus non-Somali children who live in greater Minneapolis. The effort expands upon a 2009 Minnesota Department of Health study that looked at autism rates among Minneapolis public preschool students and found a higher prevalence among Somali children.

While these ASD studies are ongoing, researchers are encouraged that their work will advance the understanding of ASDs and lead to more timely interventions, earlier diagnosis, and better quality of life for children.

Just as powerful, they say, is the personal impact on families.

“There’s so much to know, and it’s such a heterogeneous disorder with so many different outcomes and roots,” Miller says. “These parents are under so much stress. So it’s rewarding to give them an outlet to talk about their concerns and know that their child will get the services they need.”

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