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To help families, University of Minnesota takes regional lead on autism research

Our doctors and researchers are participating in the nation's largest-ever autism spectrum disorder study to help improve prediction, prevention and clinical care.
Diagnosed with autism spectrum disorder, Thomas Pacheco advanced physically and socially after care interventions. University of Minnesota researchers are participating in a national study, SPARK, that will collect genetic samples from families in an effort to identify potential causes for various subgroups of autism.

Patricia Pacheco was surprised that her infant son, Thomas, didn’t seem to notice her.

“All the books I had read said you should be staring lovingly into your infant’s eyes and he should look at you,” Pacheco said. “Well, he never looked at me. He was my first son, so I really didn’t have a concept of what was normal and what wasn’t. I would try to look at him and engage him, and he just never looked at me.”

And, unlike most other kids, Thomas was content to sit by himself with a single toy. “I just thought I had a really good baby,” Pacheco said. By age 1, Thomas wasn’t saying any words.

Friends assured Pacheco that boys develop slowly. Even her doctor suggested she wait for a speech evaluation. When Pacheco did schedule a full evaluation at 22 months, Thomas was found to have developmental delays that fit on the autism spectrum.

The diagnosis opened the gate to insurance and care to help Thomas advance physically and socially. After a year, he was speaking in four- to five-word phrases, and his daily “meltdowns” of frustration became less frequent and intense. 

Says Pacheco of the treatment, “We wouldn’t have the son we have today without it.”

Learn more about our autism spectrum disorder care.

Early diagnosis and help leads to better outcomes

The Pachecos’ experience underscores the importance of early diagnosis of the conditions known as autism spectrum disorder. The average age of children diagnosed with autism ranges from 4 to 5 years, though the condition can be reliably diagnosed in children as young as 2. The delay  represents more than two years of missed opportunity—because early treatment can pay big dividends.

Autism spectrum disorder includes a range of neurodevelopmental disorders that appear in early childhood, mostly among boys. Symptoms and levels of disability vary widely. Repetitive actions and limited interests are common. Social interaction and communication can be particularly difficult. The Centers for Disease Control and Prevention (CDC) estimates that 1 in 68 children has some form of autism.

University of Minnesota researchers and University of Minnesota Health physicians are trying to better understand the causes of autism—to diagnose it at earlier stages when treatment is more effective and to anticipate needs for therapy and support in the larger community.

Scientists understand that genetics play a strong role. Studies of identical twins show that if one twin has autism spectrum disorder, the other twin has a high probability of having it, too. Finding the responsible genes would help scientists understand the cause. It would also allow very early diagnosis. But identifying those genes has been tough. 

Learn more about the University of Minnesota’s autism research efforts.

“Because it’s very heterogeneous—it’s a broad spectrum—there is no single gene or single cause,” said Child and Adolescent Psychologist Suma Jacob, MD, PhD. “There are over 100 genes probably, and that has led to the challenge in finding [answers].”

To identify those genes and more fully understand who will show signs of autism spectrum disorder and why, scientists will have to study tens of thousands of patients. And that’s where SPARK comes in. 

SPARK—which stands for Simons Foundation Powering Autism Research for Knowledge—is a nationwide collaborative study that will include 50,000 individuals with autism spectrum disorder and their families. Funded by the Simons Foundation, the study will collect personal information and DNA from saliva and mouth cells for genetic analysis.

The University of Minnesota is one of more than 20 medical schools and research centers nationwide that launched the effort this spring. Jacob is the lead investigator for the university, which will be a regional hub for SPARK.

“It is the largest autism project ever planned,” Jacob said. “We’ve learned that we need large numbers in order to tease out common causes within subgroups of autism. You can’t do that as one institution. You really need to join forces.

“We applied for the [SPARK] grant through the University of Minnesota, but I really see it as a collaborative force with a growing group of faculty interested in autism,” she said. “We have colleagues and collaborators at Mayo Clinic, in Duluth and in other states.”