Longer lifespans emerge in Down syndrome

Transitioning a patient with Down syndrome from a pediatric practice to an adult physician can be challenging due to a lack of willing physicians, who may not feel that they know enough to provide care.


As people with Down syndrome live longer, recently published guidelines can help fill a care gap by providing primary care physicians better insights into these patients.

The guidelines from the Global Down Syndrome Foundation Medical Care Guidelines for Adults with Down Syndrome Workgroup constitute the first evidence-based look at treatment for adults with Down syndrome, the authors wrote Oct. 20, 2020, in JAMA. In the U.S., more than 200,000 people live with the chromosomal condition, according to a review article published June 11, 2020, in the New England Journal of Medicine (NEJM). Over the last several decades, advances in medical care, and particularly treatment for congenital heart disease, have extended the average lifespan from 30 years in 1973 to 60 years by 2002, the review article said.

Important recommendations for adult patients with Down syndrome include referring those with a history of congenital heart disease or with potential mental health conditions and screening for atlanto
Important recommendations for adult patients with Down syndrome include referring those with a history of congenital heart disease or with potential mental health conditions, and screening for atlantoaxial instability and hypothyroidism. Image by Henadzi Pechan

Transitioning from a pediatric to an adult physician, though, can be challenging, said Eric Last, DO, FACP, a clinical assistant professor at Zucker School of Medicine at Hofstra/Northwell in Hempstead, N.Y., “because there are times that it's difficult for parents to find primary care providers who are willing to provide the care.”

There are specialty clinics, but they aren't necessarily accessible. Nearly one in five patients must travel more than two hours, sometimes out of state, to reach the closest Down syndrome clinic, according to an analysis published in March 2020 in The Journal of Pediatrics. Some efforts are being made to fill that gap. In 2020, Boston's Massachusetts General Hospital launched an online portal to better disseminate medical information about care management to families and primary care physicians based elsewhere.

The guidelines' workgroup of Down syndrome experts, who reviewed and synthesized 22 studies, provided recommendations for screening and monitoring for a wide range of potential conditions, from thyroid disease to diabetes to dementia. Many of the recommendations were based on limited or very low-quality evidence, and the workgroup stressed the need for more research. However, they wrote, “it is important to provide guidance where possible.”

Given the patchy access to specialist care in some U.S. regions, primary care physicians can play an influential role in caring for adults with Down syndrome, said Jose C. Florez, MD, PhD, who founded the Down Syndrome Program at Massachusetts General Hospital.

“Sometimes physicians may feel like it's a lot to handle,” Dr. Florez said. “But if you have the sensitivity and treat them the way that you would like to be treated, and then learn a few of these things that really are not rocket science, you can provide excellent care.”

Latest guidance

The expert group broke its recommendations into several sections, including those that were highlighted as new, including the following:

  • Refer adults with a history of congenital heart disease to a cardiologist for ongoing evaluation and management.
  • Screen annually for signs of atlantoaxial instability (a condition in which the bones in the upper spine or neck can be less stable and thus may damage the spinal cord), such as changes in gait or new incontinence.
  • Screen for hypothyroidism, which is more common in Down syndrome, every one to two years beginning at age 21.
  • If there's a concern about a potential mental health issue, refer the patient to a clinician knowledgeable about medical and mental health conditions as well as common behavioral characteristics in adults with Down syndrome.

The new recommendations also advocate annual screening for Alzheimer-type dementia beginning at age 40. But don't be too quick to attribute seeming cognitive changes to dementia without ruling out other causes first, experts cautioned.

Peter Bulova, MD, a JAMA guidelines coauthor who also directs the University of Pittsburgh Adult Down Syndrome Center, said that it's not uncommon for a 20-something patient to be referred to the center to rule out possible dementia.

“There are lots of conditions that can mimic dementia,” said Dr. Bulova, ticking off depression, hypothyroidism, and hearing loss as several possibilities. “In almost every case [in patients in their 20s and 30s], we find something else that's causing it.”

By age 45, half of adults with Down syndrome have developed some type of thyroid abnormality, including persistent hypothyroidism or Hashimoto disease, according to the NEJM review article. “Sometimes regression and loss of milestones or achievements can happen, and it's just all hypothyroidism,” Dr. Florez said.

Another autoimmune condition, celiac disease, also is more common than in the general population and may be difficult to pick up, Dr. Florez said. While there may be more typical symptoms, such as diarrhea or stomach cramps, adults may display other signs instead, such as unintended weight loss, vitamin D deficiency, or even irritability in mood, he said. “Any sort of unusual complaints, it's always worth screening for celiac.”

Also watch out for sleep apnea, which can be incorrectly misattributed to emerging dementia, as lack of sleep may lead to irritability, sluggishness, or other mood changes, Dr. Florez said. Be sure to ask the patient and the caregiver about any recent daytime napping or difficulty waking up. When there's any suspicion, a sleep study should be ordered, Dr. Florez said.

Pediatric guidelines on Down syndrome, published in 2011 in Pediatrics, recommend a sleep study by age 4, noted ACP Member Jason F. Woodward, MD, an assistant professor of clinical medicine and pediatrics at the University of Cincinnati College of Medicine. When an adult is referred from a pediatrician and hasn't previously had a sleep study, one should be considered, ideally at a site with experience evaluating individuals with developmental disabilities or Down syndrome, said Dr. Woodward, who also coauthored an editorial accompanying the recent adult guidelines in JAMA.

Given that some adults with Down syndrome may have difficulty effectively communicating, it's important to view any changes in behavior as a potential signal of an underlying medical issue, Dr. Woodward said.

Diagnosing anxiety or depression can be challenging, as screening tools are not reliable in individuals who have developmental disabilities, Dr. Woodward said. Listen closely to any caregiver reports, he advised. For instance, someone struggling with anxiety may engage in more repetitive behaviors or take longer to complete routine activities, such as getting dressed, he said.

Beneficial routines

The guidelines for adults were published amid the ongoing pandemic and at a time when it wasn't clear whether individuals with Down syndrome were more vulnerable to COVID-19. One study, based on cases through June 2020 in the United Kingdom, found that adults with Down syndrome were four times more likely to be hospitalized and 10 times more likely to die than those without the syndrome, according to the findings, published online Oct. 21, 2020, by Annals of Internal Medicine.

Speaking in late 2020, Dr. Woodward said it was still unclear if the syndrome itself posed any risk or whether the risk was linked to heart disease, respiratory difficulties, and other associated conditions, including early aging, that are more common in those with Down syndrome.

Dr. Bulova noted that the Annals analysis was based on a small number of COVID-19 deaths, 27 in people with Down syndrome. He also cited a letter published in December 2020 in Lancet Neurology as intriguing. It discussed a survey from the international Trisomy 21 Research Society, which had found a decline in infections among those with Down syndrome after the initial spring surge and even after cases surged again in September 2020.

“People with Down syndrome tend to be very good about wearing masks and following directions,” Dr. Bulova said. “That's the hypothesis that that's why the number of cases has gone down.” The Lancet Neurology authors, he added, had written that adults with the condition may be “teaching a quiet lesson to the rest of the population.”

Dr. Last said that his 26-year-old daughter, who has Down syndrome, has become so accustomed to wearing a mask that it's become difficult to convince her to even take a short walk outside without the face covering.

“That raises concerns on our part about one day in the future, when the world goes back to what the world used to be, how do we explain to her that, ‘Now, yes, you can go to a restaurant and not wear a mask,’” Dr. Last said.

For primary care physicians striving to help patients with Down syndrome, the tendency to adhere to routine can help drive healthier behaviors, Dr. Florez said. For example, patients can over time adjust and become accustomed to wearing a continuous positive airway pressure (CPAP) mask for sleep apnea, he said.

Dr. Florez also has witnessed impressive strides in shedding pounds. Food can be limited to strict portions, he said, and exercise can be encouraged in regular increments, such as by tying an activity that someone enjoys, such as dancing or walking on a treadmill, to the duration of a favorite song mix or the next episode of a favorite show.

“I've seen people with Down syndrome lose 40 pounds in a year because they are incredibly religious, they get into this groove,” Dr. Florez said.

Guiding patient care

It's easy to tell when physicians don't have much experience caring for adults with Down syndrome, as they tend to limit their conversation with the patient and focus instead on the parent or the caregiver, said Linda Smarto, executive director of the National Association for Down Syndrome in Park Ridge, Ill.

Mrs. Smarto, who has a 26-year-old daughter with Down syndrome, suggested getting to know a bit about patients' interests from the start, finding out what their favorite sports team is or the name of a pet. Or, if they work, ask what they like best about their job, she suggested.

“That commonality and that personal touch is wonderful,” Mrs. Smarto said. “Not isolating patients into the Down syndrome category, just treating them like they treat any other patient, but maybe taking a little bit of extra time.”

By extra time, Mrs. Smarto added, she doesn't mean that physicians should talk louder or slower but rather build in a bit more time for processing new information, such as they might with someone who is elderly.

Before starting a medical exam, explain what you're doing first, Dr. Last said. He'll often ask the patient—or at least he did in pre-COVID-19 times—to place the stethoscope on Dr. Last's heart first to understand how it works. Similarly, Dr. Last allowed patients to check out his reflex hammer.

“It establishes a relationship, you get a smile, and everybody smiles and laughs, and you can accomplish a whole lot more that way,” Dr. Last said.

While providing some long-awaited guidance for physicians, the recent evidence-based guidelines in JAMA do contain some notable gaps, as pointed out by the accompanying editorial. Dr. Woodward and his coauthors cited the lack of screening recommendations for sleep apnea and hearing loss, both more common in adults with the syndrome.

The same workgroup is getting started on another set of guidelines that will cover those areas along with others, such as vision loss and screening guidance for breast, cervical, and colon cancer, Dr. Bulova said. Since adults with Down syndrome are less likely to develop solid tumors, screening recommendations may not mirror those in the general population, he said.

Given the shorter lifespan of people with Down syndrome until recent decades, research in this population has been limited, Dr. Bulova noted. But that's changing, with more in the works, including a National Institutes of Health project called INCLUDE (Investigation of Co-occurring Conditions Across the Lifespan to Understand Down Syndrome) launched in 2018.

More physicians could assume primary care for these adults with the help of the latest guidelines, said Dr. Last, who predicts that they themselves will benefit in unexpected ways.

“There are very few patient interactions I have that are as rewarding as these interactions,” he said. “For the most part, these young adults, they're funny and they are insightful, and they get a big kick about being included in discussions about their care. And I have a ball. We have a ball.”