For New Pittsburgh Courier
According to the Centers for Disease Control and Prevention (CDC), about 1 in every 700 babies born has Down syndrome, a chromosomal disorder. Chromosomes are structures in cells that carry long pieces of DNA. DNA segments make up genes, which help determine many things about the body, including what we look like and for which diseases we are at risk. Down syndrome is caused by an extra copy of chromosome 21, one of the 23 human chromosomes. The extra genetic material can cause people with Down syndrome to have developmental and certain health problems, though the severity varies from person to person.
Over the years, people have learned more about Down syndrome, but they still have outdated information or myths about the syndrome. Annie Cohen, PhD, associate professor of psychiatry and associate director of the Alzheimer’s Disease Research Center’s Neuroimaging Core, works to address some of these myths and bring awareness to the experiences of people with Down syndrome.
Myth: Down syndrome causes a lower quality of life.
People with Down syndrome can experience developmental delays, behavioral problems and an increased risk of developing certain health conditions. These health conditions include congenital heart disease, thyroid disease, leukemia and Alzheimer’s disease. However, Dr. Cohen says that many people with Down syndrome live long and healthy lives and that having the condition does not mean a person is chronically ill.
“Also, many people with Down syndrome have jobs, are very productive members of their communities and live life—just as people who are typically developing are,” says Dr. Cohen.
Myth: People with Down syndrome cannot speak for themselves.
People with Down syndrome have a broad range of capabilities. There is no one way to characterize everyone’s experiences with the condition. In fact, “individuals with Down syndrome are some of the most involved and critical advocates for their community,” says Dr. Cohen. Their opinions about their health care and research involvement are crucial.
Myth: Scientists know everything about Down syndrome.
Researchers know that advanced parental age is a risk factor for having a child with Down syndrome, though pregnant parents of any age can have a child with the condition. Despite what researchers know about Down syndrome, they have trouble understanding exactly why it happens.
Dr. Cohen is especially interested in making sure that the various experiences of people with Down syndrome are represented in research so that research addresses everyone’s needs. For example, according to the CDC, African American infants with Down syndrome in the United States have a lower chance of surviving beyond their first year of life compared with white infants with the condition. Researchers do not yet know why. However, Dr. Cohen thinks that racial disparities like this can be addressed by researchers making sure they have appropriate representation in their studies.
Dr. Cohen is looking to engage diverse groups of people in the Down syndrome community—people with the syndrome, family members, caregivers and leaders—to better understand barriers to participating in research. To improve the research experience for everyone, she will be looking for people to discuss what keeps them from participating in research.
“The more input we get from a diverse community, the better our research studies can be of service to the entire Down syndrome community,” says Dr. Cohen.
(ABOUT THE TOP PHOTO: Server with Down syndrome working in a restaurant. “Many people with Down syndrome have jobs, are very productive members of their communities and live life—just as people who are typically developing are,” says Dr. Cohen. – Getty Images/File)