Sleep apnea is common in children with Down syndrome. What’s new in diagnosing and treating this patient population.   

By Alyx Arnett

Obstructive sleep apnea is common among children with Down syndrome, affecting approximately 50-79% of individuals,1 but the unique challenges faced by patients in this population often make it difficult for them to undergo testing and achieve successful therapy outcomes.  

However, recent innovation in the space could improve how these patients are diagnosed and treated. A home sleep test recently demonstrated potential as a diagnostic alternative to often-challenging in-lab polysomnography (PSG), the gold standard for measuring sleep apnea, and the US Food and Drug Administration (FDA) approved Inspire Medical Systems Inc’s hypoglossal nerve stimulator in March for children with Down syndrome as young as 13, adding another treatment option.

Such advancements could lead to substantial long-term benefits for these patients as the consequences of untreated obstructive sleep apnea (OSA) in people with Down syndrome can be “quite devastating,” says Brian Skotko, MD, MPP, director of the Down Syndrome Program at Massachusetts General Hospital. Left untreated, sleep apnea can worsen language, memory, and emotional control in these patients while increasing the risk of heart disease, arrhythmias, congestive heart failure, pulmonary hypertension, and stroke.2 

Level II HST Shows Promise

Due to the prevalence of sleep apnea in children with Down syndrome, the American Academy of Pediatrics recommends PSG for all patients in this population by age 4.3 A recent retrospective study of 397 children with Down syndrome suggests screening even earlier may be helpful, as researchers found OSA was identified most frequently in the first year of life.4 

However, certain populations and geographic areas have limited access to pediatric sleep laboratories or specialists, and, even if within reach, children with Down syndrome may not be able to tolerate PSG. “Sometimes—even when there are places and facilities—there may be challenges related to the difficulties due to some of the neurodevelopmental issues that some of these patients have that make it harder for them to undergo any kind of testing, especially something that requires a full night’s stay,” says Christopher Cielo, DO, director of the sleep center at Children’s Hospital in Philadelphia and assistant professor of pediatrics at the University of Pennsylvania.

While various home sleep tests (HST) are available for adults, the American Academy of Sleep Medicine (AASM) and other groups have advised against using them in children due to minimal data comparing HSTs to in-lab PSG. Without other recommended screening options, children with Down syndrome experience diagnostic delays. Cielo has observed this firsthand in his clinical practice, where he has received referrals for adolescents with Down syndrome who had never undergone a sleep study before.

The limitations and challenges of PSG became the impetus for a newly published study in which Cielo and co-investigators sought to determine the feasibility and performance of a type II HST in youth with Down syndrome.5 Study participants completed both HST and in-lab PSG to compare outcomes. The HST, the Nox A1 (which includes EEG), was partially set up in a sleep lab, and the families completed the test at home. 

The study found no difference in the feasibility of HST compared to in-lab PSG, and the families “overwhelmingly” preferred HST, says Cielo. The study concluded that type II HSTs could expand the evaluation of OSA in children with Down syndrome. 

Cielo says the study, along with other literature, could lead to guidelines being changed within the next couple of years. He’s currently vice chair of a task force set up by the AASM to review literature that’s been published since the most recent pediatric HST guidelines came out in 2017. The process is expected to continue through around 2025, when new guidelines will be released. 

If recommended, Cielo says HST has the potential to eliminate many of the barriers and disparities that hinder children with Down syndrome from being screened for OSA by age 4.

“But I think it’s important to recognize that even if home sleep testing were approved as an alternative to in-lab polysomnography that it’s not going to be an appropriate test for every patient or every family because some children will have other conditions that might require sleep laboratory assessment, and some families may not be in a position to be able to manage the home sleep testing equipment in their home,” says Cielo. 

Could Other Home-based Diagnostics be Feasible? 

While not recommended in the United States, guidelines in the United Kingdom, Europe, and Australia currently support level III HST—which doesn’t use EEG—for OSA diagnosis in children, notes Lizzie Hill, PhD, RPSGT, departmental lecturer in sleep medicine for the Oxford Online Programme in Sleep Medicine at the University of Oxford and clinical physiologist. Her work has shown that such testing is well-tolerated in adults with Down syndrome. 

“Less invasive tests with less channels than level I/II polysomnography are likely to be preferable for individuals who may have sensory issues, and studies which can be done at home, rather than in hospital, have obvious benefits in a population where many may be medical-phobic or resistant to hospital visits,” says Hill. “Of course, cost is also a consideration, and cheaper home-based screening may be quicker and more cost-effective than the expensive, gold-standard, inpatient PSG.”

Some studies have indicated that even simpler tests, like pulse oximetry, can be useful to screen for OSA in children with Down syndrome. A study Hill co-authored, which investigated Masimo SET Technology pulse oximetry, determined that home pulse oximetry may be able to detect sleep apnea in children with Down syndrome.6 Such an approach could halve the number of children with Down syndrome needing a multichannel sleep study, according to the researchers. 

While such tools will likely shape future sleep apnea diagnostics, Skotko believes nothing on the market currently holds up to the gold standard. Skotko recently completed a decades’ worth of work seeking to identify another way to screen for OSA in people with Down syndrome, but all fell short. “We found that just nothing really added up,” says Skotko. “Right now, the only way to really diagnose obstructive sleep apnea is to get that sleep study, preferably for people with Down syndrome in a sleep lab. Some older individuals with Down syndrome might be able to tolerate it at home. But at the end of the day, it still is that sleep study.”

New Treatment Option Snags FDA Approval 

Until this year, clinicians have had limited OSA treatment options for children with Down syndrome. The most common first line of treatment is an adenotonsillectomy, as some patients with Down syndrome have smaller craniofacial features that can cause airway obstruction when the tonsils and adenoids are even somewhat enlarged. 

While surgery may reduce, or even eliminate, sleep apnea in this patient population, the National Down Syndrome Society notes that residual OSA continues for some patients after surgery or can reemerge later. One study found that almost three-quarters of children with Down syndrome who had an adenotonsillectomy for OSA required further treatment, leaving CPAP as an often-used secondary treatment after surgery.

CPAP, when worn every night consistently, is an effective treatment for OSA. But some children with Down syndrome have a harder time tolerating CPAP than their typically developing peers—who also experience issues—due to behavioral phenotypes like sensitivities to touch and different sensations, says Skotko.

If children with Down syndrome couldn’t tolerate CPAP, the treatment options generally stopped there, says Skotko. However, in March, the FDA approved Inspire’s hypoglossal nerve stimulator for OSA patients with Down syndrome who are at least 13 years old, have an apnea-hypopnea index between 10 and 50, and cannot benefit from CPAP. The device is surgically placed under the skin above the chest and is connected to the hypoglossal nerve, which controls tongue movement. When turned on before bed, the device moves the tongue slightly forward with each breath, relieving airway obstruction. 

Skotko, who worked on studies of Inspire, called the approval a “game-changer.” “For our patients with Down syndrome with severe obstructive sleep apnea who have run out of straightforward surgical options, who have exhausted those options and cannot tolerate CPAP, we were left with nothing,” says Skotko. “It was frustrating and sad and oftentimes devastating to watch the toll of sleep apnea take place on the patients and their families. But now, with the hypoglossal nerve stimulator, we have an option.” 

When the therapy became available, Skotko says many of his patients’ families jumped at it. Cielo also has seen an increase in families seeking information about the treatment. Still, Skotko notes that the neurostimulator is not the first option, nor should it be. He says his preferred treatment approach will continue to involve surgery followed by an attempt with CPAP. Some patients still may not qualify for Inspire therapy, such as those with obesity-related neck collapse that obstructs oxygen flow into the lungs. 

Skotko currently is working on a study investigating the therapy in children with Down syndrome as young as 10 to determine if it also improves cognition and language in users by strengthening the tongue muscle through nightly “workouts” and restoring proper airflow.  

As far as whether the expanded indication will bring an influx of Down syndrome patients to sleep medicine practices, Hill says it remains to be seen. “Given the cost involved and the invasive nature of the treatment, it remains to be seen whether there will be a ‘flood’ of patients seeking this particular therapy. However, any additional treatments that can help people with Down syndrome and OSA, particularly those who are unable to tolerate CPAP, can only be good news,” she says. 

Behavioral Modifications Can Improve CPAP Outcomes

While CPAP can be challenging for children with Down syndrome, with one study finding just over 50% of children with Down syndrome sustained therapy at acceptable levels, new research suggests modified approaches can improve adherence.8  

A study revealed that caregivers’ experiences with the adoption of PAP were influenced by various factors such as accessing supplies, interactions with the medical team and equipment company, and patients’ needs and behaviors.9 Caregivers provided insights on enhancing PAP adherence, including improving communication with the medical team and equipment company, emphasizing patience, utilizing visual supports, and providing social support and education for extended family.

Investigators are now taking that study a step further to assess the effectiveness of family-informed intervention, which involves increased contact with the medical team, compared to standard clinical care in children with OSA and Down syndrome. Researchers hypothesize that children who receive family-informed intervention will demonstrate significantly improved PAP adherence.

“We’ve, and other groups too, have shown that adherence to CPAP can actually be very high in these patients, but sometimes that desensitization can take longer than in typically developing children,” says Cielo. “So it really takes patience and a team that has some familiarity with these patients.” 

Hill points out that individuals with Down syndrome have the potential to develop many of the same skills as their typically developing peers, given adequate time and support. “CPAP is no exception,” she says. Hill highlights the significance of allowing extra time for CPAP initiation and follow-up appointments, as well as providing educational materials in accessible, easy-to-read formats. 

In addition, she suggests employing desensitization techniques, such as gradually introducing and encouraging individuals to familiarize themselves with the equipment at their own pace, to enhance the acceptability of CPAP.


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