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UA Established as International Center for Down Syndrome Research
Fueled with more than $1 million in grant funding, the UA Down Syndrome Research Group includes faculty members, students and volunteers working on a variety of scientific and quality-of-life issues related to the syndrome.
Researchers at the University of Arizona are working to become international leaders in Down syndrome research with the help of grant funding from the Down Syndrome Research and Treatment Foundation and Research Down Syndrome.
Over the past four years, the UA Down Syndrome Research Group has received more than $1 million in grant funding from the two national organizations, making it possible for the research team – which includes faculty members, undergraduate and graduate students, as well as volunteers – to expand its work in the lab and in the community.
“The goal of the activity here is to find ways to improve life outcomes for people with Down syndrome, and this funding has made it possible for the UA to become an internationally recognized center in that effort,” said Lynn Nadel, a UA Regents' Professor of Psychology, who leads the research group along with Jamie Edgin, UA assistant professor of psychology.
The Centers for Disease Control and Prevention estimates that about one in every 700 babies born in the United States each year has Down syndrome, which is the most common genetic cause of cognitive impairment and can result in mild to severe developmental disabilities. In Arizona, about 120 babies each year are born with the syndrome, characterized by the presence of an extra 21st chromosome.
The UA Down Syndrome Research Group was formally established in 2007, with the help of seed funding from the Arizona Alzheimer’s Research Consortium. An important link exists between Alzheimer’s disease and Down syndrome, as individuals with Down syndrome are at a much higher risk for developing Alzheimer’s disease and often do so 20 years earlier in life than the average population, Nadel said.
Research on Down syndrome continues to have implications for Alzheimer’s patients and vice versa, as illustrated by a recent study published online by the journal Translational Psychiatry, suggesting that the drug Namenda, approved as a treatment for Alzheimer’s, might have the potential to improve verbal memory of people with Down syndrome.
The link between Down syndrome and Alzheimer’s is just one of the areas the UA Down Syndrome Research Group considers in its research. The group is engaged in numerous studies exploring the various scientific aspects of Down syndrome as well as how to improve quality of life for those who have it. One of these projects includes innovative research on sleep and sleep apnea, which you can read more about in the UANews article, "Sleep Disruption in Toddlers with Down Syndrome May Affect Behavior."
Another significant portion of the group’s work has focused on establishing a battery of standardized tests to assess cognitive function in individuals with Down syndrome.
“Right now there are various mechanisms that are being targeted to reverse cognitive deficits in Down syndrome through pharmacological and medical interventions,” Edgin said. “The role that we play is to develop assessments and biomarkers to tell whether or not an intervention has worked.”
While the UA has already successfully developed assessment tools for older children and adults with Down syndrome, researchers are working to develop cognitive assessments for younger children, Edgin said.
“In the past, people thought that individuals with Down syndrome couldn’t be assessed, but we’ve shown you can do it if you do it carefully,” Edgin said. “We use computerized touch screen assessments; they tend to be pretty engaging. We use assessments that start at very simple levels with lots of practice trials and then they scale up in difficulty.”
Nadel said the assessment tools developed at the UA will help standardize the way researchers across the world approach problems related to Down syndrome.
“You want comparability from an international perspective since this is an international problem,” Nadel said. “This is not a condition that is more prevalent in one country than another. Worldwide, there are the same prevalence rates, so it’s a global issue."
While grant funding has allowed the UA to expand its research into Down syndrome, it has also provided for the creation of DSA CARES, which stands for Down Syndrome Arizona-Clinical Care, Advocacy, Research, and Education. The university-community partnership was designed to provide statewide support for those whose lives are touched by Down syndrome, through a combination of research, community outreach, education and support networks, Edgin said.
Nadel said the UA wanted to contribute not only as an international research center but also in ways that help people here and now.
“The outcomes for individuals with Down syndrome, in general, have been improving greatly over the last 30 years because kids with Down syndrome are not institutionalized anymore. They’re mainstreamed, and a variety of interventions have been put into place for some of the medical problems faced by individuals with Down syndrome,” he said. “A lot of kids with Down syndrome now are doing better, living longer and hence need more help to lead independent lives. They’re outliving their parents more often now, so there are a lot of issues related to how to help this community.”