Redefining Inclusivity: Down Syndrome Co-Researchers Set Their Own Research Agenda

When Eric Rubenstein, an assistant professor of epidemiology, convened a group of people with Down syndrome to lead his research on how to improve the health and well-being of people with intellectual and developmental disabilities, he expected they would pose some interesting questions for his Medicaid dataset of more than 120,000 people with Down syndrome. But once the group was assembled, it had other priorities.

“We put a team together and they were like, ‘No, Eric, we’re not interested in any of that. It’s not important to us. We want to know how people (with Down syndrome) are doing, what their mental health is like, how they’re dealing with stress’—which, although my Medicaid data is cool, (the data) doesn’t really tell us that,” Rubenstein says. First, he assembled a seven-person team to serve as an advisory board for his DSTOTHEMAX study, which aims to better understand the causes of obstructive sleep apnea, dementia, and mortality among people with Down syndrome.

He says he realized that there is often a gap between what researchers focus on and what people with intellectual and developmental disabilities care about.

“(This) is especially important in the case of Down syndrome, where the biggest fear is dementia,” he says. By age 40, most adults with Down syndrome show signs of Alzheimer’s disease in the brain. While research into the causes and treatments of dementia is therefore crucial, Rubenstein notes that many other research questions, such as what kinds of mental health problems people with Down syndrome face, may be missed because of the emphasis on this major public health crisis. For example, talk to a 22-year-old with Down syndrome who just graduated from high school, and dementia is probably not his biggest day-to-day concern, he says.

Rubenstein instead helped the team redefine their purpose to include studying health issues they saw as important to their community. This approach is based on an emerging research model known as co-research, which intentionally includes community members at every stage of the research process, not just as research subjects. In 2022, together with SPH researchers, seven people Rubenstein recruited for advice—Staci Christensen, Gus Edouard, Benjamin Golden, Eden Rapp, Kaethe Sigelko, Alexis Sokoloff, and Caley Versfelt—created the only public health co-research program in the country led entirely by people with Down syndrome.

“Particularly in qualitative research, you bring a lot of your own experience to the analysis. You use yourself as a research tool. That’s why it’s so special to have co-researchers right there with you, interpreting the data in real time, because they bring their own lived experiences,” says Ashley Scott, a project manager in the Department of Epidemiology who works closely with Rubenstein and his co-researchers.

The co-investigator team meets about once a month via Zoom, she says, because its members come from all over the country. Each brings their own experience in self-advocacy, and Scott and her team provide training in health research and ethics, and they also host guest researchers and health professionals to teach research communication. During brainstorming sessions, Scott and her co-investigators choose a research topic, develop research questions, and decide on a research method.

In the team’s first research project, they focused on mental health, creating an online survey about stress, anxiety, and coping mechanisms in adults with Down syndrome. Their findings are documented in a forthcoming research paper, which is accompanied by an easy-to-read format for greater accessibility. The team is currently conducting qualitative interviews as part of their second research project on what it means to be independent as adults with Down syndrome.

“In the world of diversity, equity, and inclusion in academia, people with intellectual disabilities aren’t always included in the degree requirements to be part of that community,” says Rubenstein, whose interest in disability health research stems from a long history of working closely with people with intellectual and developmental disabilities as a Special Olympics coach. “We’ve had people speak at (the annual meeting of) the American Public Health Association, the MELODEM Dementia Conference, the Down Syndrome Congress in Massachusetts—those Down syndrome events (where) people with Down syndrome often don’t speak. We’re trying to open up more avenues for real inclusion in research teams. It’s a cliché at this point, but the motto of disability rights is, ‘Nothing about us without us.’”

Recently, Rubenstein, Scott, and Salina Tewolde, a senior data scientist supporting DSTOTHEMAX and the co-research program, attended the fifth Trisomy 21 Research Society International Conference in Rome, Italy. (Down syndrome is also known as Trisomy 21, referring to the extra copy of chromosome 21 that a person with this genetic condition has in their cells.) Because they couldn’t afford to fly their co-researchers in to join them, they presented a poster about the co-research model and recorded a video of the co-researchers discussing what the model means to them.

While the conference focused primarily on the science of Down syndrome at the genetic and cellular levels, Rubenstein, Scott, and Tewolde shared their population health research in a special session on science and society that was intended to be more widely accessible. The session, which was open to the public, drew families from all over Rome and fostered direct exchange between researchers and the Down syndrome community, Rubenstein says.

In the future, she hopes to help other researchers establish their own co-research teams by developing a hub-and-spoke model of training and resources based at SPH. She plans to use an Early Career Catalyst Award from idea hub, SPH’s innovation accelerator, to evaluate the co-research model and pave the way for additional grant applications.