For the first time ever, a group of researchers has published a set of evidence-based medical care guidelines for adults living with the most common genetic disorder in humans.
The group of 13 researchers, physicians and social workers from across the country published the guidelines for adults living with Down syndrome in conjunction with the Global Down Syndrome Foundation.
Dr. Kent McKelvey is the Rockefeller Chair in Clinical Genetics at the University of Arkansas for Medical Sciences, where he also directs the Down syndrome clinic. He says the guidelines focus on common types of health problems that occur in adults in general, as well as some that are specific to those with Down syndrome.
“It used to be that because we didn’t have guidelines, [we] did everything the same as it would be for people without Down syndrome and we know that’s not right, but we didn’t know what was right before we were able to put all these together."
“[The guidelines are] for self-advocates, so they’re for the people who have Down syndrome, they’re for the families and caregivers to say to their primary care physician, ‘These now exist,’” McKelvey said. “We've broken it down into what do you do at age 20 to 29, 30 to 39, 40 to 49 et cetera so that you can know what is supposed to be done at a given age.”
The recommendations focus on nine main groups, including behavioral health, obesity, dementia and cardiovascular disease. McKelvey says a major challenge was including recommendations that cover the wide variety of related symptoms that are present in adult Down syndrome patients.
“We know that there are special diets, we know that the immune system is different in people with Down syndrome, and so we try to approach a group that is varied but we try to put down basic guidelines for, ‘How do you account for the differences and still get it right?’” McKelvey says the goal is to provide a higher quality of care for adults with Down syndrome, and to have a comprehensive set of recommendations available for physicians, patients and caregivers.
“The State of Arkansas has around maybe 3,000 people with Down syndrome really scattered throughout the state, so you would either go to a separate specialist, you could go to a psychiatrist maybe for the mental health or the behavioral issues, you might go to a GI physician for celiac disease, but there was no confluent package of, ‘What are you supposed to do for a given person across all disciplines?’”
McKelvey says the group hopes to provide more evidence-based recommendations in future iterations of the guidelines as the average life expectancy of people with Down syndrome continues to grow. The guidelines were first published in the Journal of the American Medical Association and are available for free on the Global Down Syndrome Foundation’s website.