About half of all children with Down syndrome are born with a heart abnormality.
By age 40, about half of all people with Down Syndrome will be diagnosed with Alzheimer’s disease, according to the National Institutes of Health. They’re also more likely to develop childhood leukemia, sleep apnea and hearing and vision problems. These are called comorbidities, also known as diseases or disorders that appear in people with Down syndrome more frequently than expected.
On the flip side, breast cancer in people with Down syndrome is virtually nonexistent. Women with Down syndrome are 10 times less likely to develop breast cancer than those without Down syndrome.
Labs at the University of Colorado Boulder are studying Down syndrome to try and understand why these variations happen.
“We research the connection between those other diseases and disorders and Down syndrome and attempt to find new ways to help people with those disorders, with or without Down syndrome,” said Mary Allen, associate director of the Crnic Institute Boulder Branch which studies Down syndrome.
Kindyll Wetta, a senior on the CU Boulder women’s basketball team, works in a research lab looking at embryo development in Down syndrome, how it differs from typical development and what is causing it.
Wetta said her research is important to her because of her connections to people with Down syndrome. She’s worked camps with kids who have Down syndrome and has fans with Down syndrome who come to her basketball games.
“It’s important to be aware of other people’s circumstances and other people’s hand that they’ve been dealt in life because not all of us are as fortunate to be living a perfectly normal life,” Wetta said. “As I’m moving out of being a college athlete and into the real world, I really do want to be part of something that’s bigger than myself and promote a good cause.”
CU Boulder researchers, including Wetta and Allen, set up a table outside of the University Memorial Center on Friday to celebrate World Down Syndrome Day. The date, March 21, represents the triplication of chromosome 21 in people with Down syndrome. Researchers handed out snacks and played music to encourage passersby to stop by and scan a QR code for more information about Down syndrome and Down syndrome research at CU Boulder.
“It’s a celebration of uniqueness and also a way for us to remind people in the general society that we still need to do a lot more to convince everyone that a more inclusive society with more diverse people is actually better,” said Esteban Rozen, the program manager for the Crnic Institute Boulder Branch.
Allen said in the 1960s, the life expectancy for a person with Down Syndrome was 8 years old. Now, she said, it’s 65. In the 1960s and 1970s, expectations were low for kids with Down syndrome and they were separated from other kids. As people moved toward inclusion and kids with Down syndrome were put in classrooms with typical kids, their IQ went up, self-sufficiency improved and so did their life expectancy.
“What we were doing was making it true whereas if they live in a typical environment and are included in school, they’re far more healthy,” Allen said. “Our influence in their lives makes a difference just like their influence in our lives makes a difference.”
One thing Allen wishes people knew about Down syndrome is that they can’t be stereotyped into one group and that they’re capable of so much.
“I really wish more people were willing to hire individuals with Down syndrome because a lot of them are very skilled workers in different fields,” Allen said. “There is a bias in individuals that they can’t be hired, they can’t have jobs, that is totally wrong. The more inclusion we do, the more we realize how wrong that is.”
The table celebrating World Down Syndrome Day had a QR code linked to the website for the Crnic Institute Boulder Branch, a branch of CU’s Linda Crnic Institute for Down Syndrome. CU Boulder has about 20 labs researching different aspects of Down syndrome, including muscle weakness, sleep apnea and prenatal development.
CU Boulder doctoral student Christopher Ozeroff works in a lab studying childhood leukemia. His experiments aim to identify which extra gene on chromosome 21 is causing leukemia more frequently in people with Down syndrome.
People with Down syndrome “want this research to be done, and I think there’s a lack of overall awareness that in reality, the hardest thing these individuals will face is the comorbidities — not necessarily having Down syndrome,” Ozeroff said.
Another lab hypothesizes if sleep problems could be treated, perhaps rates of Alzheimer’s could be reduced. Others look at individual variability — asking which people are going to have heart, hearing or eye problems and why they get those problems when another person with Down syndrome does not.
“To me, what the unstudied component of this is that Down syndrome wasn’t really one group,” Allen said. “There is huge variability in what you mean when you say Down syndrome. That got me into studying it, specifically.”
Solid tumors like breast cancer are rarely present in people with Down syndrome, which CU researchers found recapitulates in mouse models when they were unable to give mouse models with Down syndrome cancer. If researchers can figure out why this happens, it could help people who do have breast cancer.
Rozen said it’s motivating to do research that can help people’s quality of life.
“We’re trying to improve now by engaging with the (Down syndrome) community to know, OK, we can try to solve Alzheimer’s disease but is that what they’re really worried about?” Rozen said. “Or are they more worried about their daily life, like mobility issues or hearing loss? And that’s what we’re getting feedback from the community on now, to focus on what they want us to focus on.”
For more information, visit colorado.edu/research/cbb.
