Down syndrome may be one of the most common causes of intellectual disability, but it can still be difficult for researchers to find students with the syndrome willing to participate in studies to understand the condition.
As part of the National Institutes of Health’s ongoing research plan for Down syndrome, it has partnered with national and international community groups to build a registry of children and adults with the syndrome who are interested in participating in research. Since the registry was created in 2013, more than 2,600 people have provided medical, educational and other information to the registry.
Michael M. Harpold, the research director for the LuMind Foundation, which studies cognition issues related to Down syndrome, said developing an active community of people with the syndrome is critical to help researcher not only find participants to study, but understand what to study in the first place.
“It’s complicated. Other [causes of cognitive disability], like Fragile X syndrome, are caused by an error on a single gene. In Down syndrome, you have the tripication of a whole chromosome, with more than 200 genes,” he said. “How do you approach it?”
“With respect to cognition, different educational approaches and techniques have evolved over time as well. But, does this work? Does that work? It’s sort of a hit-or-miss thing. ...There’s not really any central source that has looked at that,” he said. “The idea there is within that registry, people can put their medical information in there. For parents, they can see how many people are out there with sleep apnea. They can start to reach out and compare notes on what’s working, what’s not working. And for researchers, then you are going to start getting some solid data and solid numbers of people with these ‘comorbidities’"—simultaneous diagnoses that could affect the way Down syndrome manifests.
As part of the new plan, NIH plans to build up the registry to at least 10,000 children and adults with Down syndrome, and work to create a community of researchers, educators, families, and those with the syndrome.
A version of this news article first appeared in the Inside School Research blog.