Oct. 26, 2020 -- “I think it’s very important that these guidelines are finally coming out, because we haven’t had anything like this for our family doctors, and they need this to better understand what Down syndrome is all about today.”
Karen Gaffney, 42, president of the Karen Gaffney Foundation, is an outspoken advocate pushing for more medical research to improve the lives of people like her who are living with Down syndrome. She was part of the focus group that helped prioritize medical issues for the new evidence-based clinical guidelines released recently on medical care of adults with Down syndrome in JAMA, The Journal of the American Medical Association.
“These guidelines totally changed things for us and for our families,” she says. “We’ll all be more informed about issues to watch for so we can take action much sooner to ensure better health outcomes.”
Down syndrome is the most common chromosomal condition in the United States. Exactly how many Americans have the condition is unknown, but each year, about 6,000 babies are born with it. That’s an estimated one in 700 births. It occurs when a fetus develops an extra copy of chromosome 21, resulting in three copies instead of the usual two. The extra genetic material changes the way a baby develops physically and mentally.
The American Academy of Pediatrics published guidelines for the treatment of children with Down syndrome in 2011, and reaffirmed them in 2018, but these are the first comprehensive guidelines for adults.
People with this condition have a higher risk for having medical conditions including Alzheimer’s disease, congenital heart defects, autoimmune diseases, and thyroid issues. Life expectancy has increased dramatically -- from 25 years in 1983 to 60 years today -- which is why advocates say these guidelines are sorely needed.
“It’s not only beneficial for those of us who serve in clinics where we see a larger number of adults with Down syndrome, but particularly for those primary care physicians who only have a small number of adults with Down syndrome in their practice,” says Brian Chicoine, MD, a co-author of the guidelines and medical director of the Advocate Medical Group Adult Down Syndrome Center in Park Ridge, IL. “Thirty years ago, I was that family physician in a small town serving a handful of adults with Down syndrome, and I would have absolutely loved to have these guidelines at that time, but obviously they weren’t available.”
Massive Undertaking Leads to Guidelines
The Global Down Syndrome Foundation created a 29-member work group made up of doctors, nurses, patient representatives, and other scientific experts to look at more than 11,000 studies and select 22 for review. That led to 14 recommendations for these nine areas: behavior and mental health issues, diabetes, heart diseases, obesity, osteoporosis, thyroid conditions, spinal cord issues, celiac disease, and dementia. Just one strong recommendation was established: that screening for Alzheimer’s disease should begin at age 40.
“We know that unfortunately, Alzheimer’s disease is a commonly co-occurring condition in people with Down syndrome, particularly as they get older, and so we assume a lot of screening for that and assessing for that and helping individuals with Down syndrome and their families,” Chicoine says.
Michelle Sie Whitten, president and CEO of the Global Down Syndrome Foundation, has a 17-year-old daughter who will be considered an adult next year.
“Because there are so many medical issues associated with adults with Down syndrome, the clock is ticking. As a parent of a 17-year-old with the condition, I know how important this resource is for 99% of clinicians who aren’t Down syndrome experts,” she says
She says the years of blood, sweat, and tears that went into these guidelines were well worth it.
“It’s very clear as a parent, as an advocate, as somebody who’s interested in research and medical equity, that we need these guidelines to allow people with Down syndrome to be healthy and to reach their potential,” she says.
Different Types of Down Syndrome
There are three types of Down syndrome, but about 95% of people with the condition have Trisomy 21. It’s unclear why it occurs, but one known risk factor is the mother’s age. Women over 35 are more likely to have a baby with Down syndrome.
“People with Down syndrome have a very different disease spectrum, so they are highly predisposed to some diseases and highly protected from others,” Whitten says. “These guidelines help address that and spell out what health care should be the same as for typical patients vs. different for those with Down syndrome.”
The guidelines focus on health screenings but will also be used to direct research. While some of the recommendations agree with existing guidance for the general population, like using statins to lower your heart risks, and managing stroke risk factors, they call for screening people who have Down syndrome for diabetes every 3 years starting at age 30.
“I think getting the guidelines into the hands of the families who will bring it to the providers will be a big part of the distribution,” Chicoine says. “Historically that’s been a huge way the information in the Down syndrome community got passed to providers, especially those providers who only had one or two people in their practice.”
Chicoine says a large gap in knowledge and care exists, because education has not kept up with the growing population of adults with Down syndrome.
“There’s some estimation that only 5% of adults with Down syndrome in the United States have access to a Down syndrome clinic, so that for the other 95%, many are seen in practices with just one or two, maybe a handful of people with Down syndrome in the practice, so they certainly have much less experience and presumably knowledge than someone that is serving someone in a Down syndrome clinic,” he says.
Far Reaching Impacts
It’s not just year-in, year-out care that could change with the release of the guidelines, he says.
“In addition, I think from a research standpoint, what these guidelines will mean for directing research going forward is also exciting,” Chicoine says. “As we were going through this guidelines process, it was clear there were some very significant gaps in our knowledge, and hopefully, this will drive research to improve that knowledge and we’ll continue to update these guidelines over time.”
The authors say the lack of better data limited the strength of the recommendations and shows the need for more research.
Nicholas Breitnauer, MD, specializes in internal medicine and pediatrics at Denver Health. He has started treating patients with Down syndrome, and for him, these guidelines are a game-changer.
“You know initially, my reaction was, ‘Finally!’” he says. “And thank goodness we have some guidance here. So much of primary care is guideline-based and evidence-based, whether it be for diabetes or blood pressure. These reminders historically don’t apply or trigger for patients with Down syndrome, and often you don’t know the next best step. These guidelines give us a sort of guidance so that we feel like we’re providing the highest-level care for a unique subset of patients.”
Breitnauer has cared for about 40 patients with Down syndrome -- which is more than a typical primary care provider, but he’s still not an expert. He believes this will empower their guardians to request or question certain things based on the guidelines and help guide conversations in a productive way.
“On the pediatric side, I think the guidelines are a little more straightforward in terms of when to start screening, but there was virtually no screening guidelines for adults with Down syndrome, and I think people were sort of unsure of the frequency and the timing, and now we have much more clear rules of the road to follow,” he says.
Finally, a Tool That May Help
Joanne Richardson, a single mother in Lawrenceville, GA, outside Atlanta, has cared for her daughter Natalie for 32 years. Natalie has Down syndrome. Richardson says that at times, it’s been very hard and extremely stressful to navigate the health care system. When she was 25, Natalie had a major health scare. She was urinating on herself and biting her tongue. Richardson says her primary care doctor recommended she see several specialists, including a dermatologist. She finally got a diagnosis when she contacted a neurologist on her own who found that Natalie was having seizures. She’s excited about the new guidelines.
“We never had a set of guidelines that helped us parents and doctors understand our adults with Down syndrome,” she says. “It’s good to know that we now have a tool that doctors can use to treat our adults.”
Joanne’s sister, actor and model Beverly Johnson, is very close to Natalie and has become an advocate and international spokesperson for the Global Down Syndrome Foundation.
“We are a very tight family, and we deeply care about each other,” Johnson says. “Ten years ago, I learned about the great work of the Global Down Syndrome Foundation and wanted to be involved,” she says. “I want Natalie to live a long, healthy, and happy life. The same goes for every family of an adult with Down syndrome. Global guidelines give doctors and parents the tools they need, and we hope with proper medical care, the life expectancy can be even longer.”
Richardson, 68, knows that Natalie could outlive her. She just wants to make sure the best medical care will be available for her daughter when she’s gone.
“Being a parent, I would like to have a doctor that I can be confident in to treat Natalie. It gives me confidence that Natalie will be properly taken care of, this being this is the first generation of adults with Down syndrome that will outlive me,” she says.