Why Sleep Apnea is So Common in People with Down Syndrome

Jake Newby

| 4 min read

Jake Newby is a brand journalist for Blue Cross Blue...

Key Takeaways
  • Obstructive sleep apnea affects most people with Down syndrome, with studies estimating prevalence above 50% in children and even higher in adults.
  • Differences in airway anatomy, low muscle tone, obesity and related health conditions can all increase the risk of airway obstruction.
  • Sleep apnea symptoms may be subtle or absent, making sleep studies essential for identifying the condition in children and adults.
  • Early diagnosis and treatment may help reduce cardiovascular, cognitive and behavioral complications linked to untreated sleep apnea.
Sleep apnea is much more common in people with Down syndrome than in the general population. New research estimates that obstructive sleep apnea (OSA) affects about 50% to 80% of children with Down syndrome in the United States. In adults with Down syndrome, prevalence may approach 100%.
Multiple factors contribute to the connection between these two conditions. People with Down syndrome are more likely to have a combination of anatomical, muscular, metabolic and other health factors that can make it easier for their airway to become blocked while they sleep.

Why does down syndrome increase risk of sleep apnea?

OSA happens when the upper airway becomes partially or completely blocked during sleep, interrupting normal breathing. This can lower blood oxygen levels and cause brief awakenings that a person may not remember. Several characteristics associated with Down syndrome can increase the likelihood of airway obstruction, including:
  • Differences in facial structure and airway anatomy: People with Down syndrome may have a smaller midface and jaw, narrower nasal passages, a relatively large tongue, or enlarged tonsils and adenoids, according to the National Down Syndrome Society (NDSS). These characteristics can leave less space for air to move through the upper airway, making obstruction more likely.
  • Low muscle tone: Hypotonia, or decreased muscle tone, is common in people with Down syndrome and can also contribute to OSA, per studies. During sleep, reduced muscle tone in the throat can contribute to airway collapse and obstruction.
  • Obesity and other health conditions: Obesity, hypothyroidism and gastroesophageal reflux are also common among people with Down syndrome and may contribute to disoriented breathing during sleep. Studies have found that obesity can increase tissue around the upper airway and make obstruction more likely.
Because several of these factors can occur together, people with Down syndrome may have multiple reasons for developing sleep apnea rather than one isolated cause.

Why is sleep apnea difficult to recognize in people with Down syndrome?

One reason sleep apnea can go undiagnosed is that symptoms do not always accurately predict whether a person has the condition. Research has found that some children with Down syndrome who have no reported snoring or witnessed breathing pauses still have OSA when tested with a sleep study.
Potential signs and symptoms, per the NDSS, include:
  • Snoring
  • Gasping noises
  • Heavy breathing
  • Apneic pauses (pauses in breathing)
  • Restless sleep
  • Frequently waking during the night
  • Unusual sleeping positions
  • Excessive daytime sleepiness
An American Academy of Pediatrics (AAP) study found that children age 1 or younger who underwent a sleep study, 98% had OSA and 59% had severe OSA. The researchers concluded that earlier testing may be warranted for some infants at higher risk.

The importance of treating sleep apnea

Untreated sleep apnea can have consequences beyond poor sleep. In people with Down syndrome, OSA has been associated with cardiovascular and neurocognitive concerns, including pulmonary hypertension, heart problems, impaired memory and language and behavioral changes, according to a 2018 study on OSA in patients with Down syndrome.
The AAP recommends that children with Down syndrome undergo a sleep study by age 4, regardless of whether symptoms are apparent. A sleep study remains the standard test for diagnosing OSA in people with Down syndrome.
Recognizing the increased risk of sleep apnea in people with Down syndrome can help families and health care professionals identify the condition earlier. Because the causes are often multifaceted, treatment may require addressing more than one factor contributing to airway obstruction.

FAQs: Sleep Apnea and Down Syndrome

How common is sleep apnea in people with Down syndrome?
Sleep apnea is very common in people with Down syndrome. Studies have found obstructive sleep apnea in more than 50% of children with Down syndrome, with prevalence potentially approaching 100% among adults.
Why is sleep apnea more common in people with Down syndrome?
Several factors can contribute, including differences in facial and airway anatomy, low muscle tone, enlarged tonsils, obesity and other health conditions that can affect breathing during sleep.
What are the signs of sleep apnea in someone with Down syndrome?
Signs can include snoring, gasping, heavy breathing, pauses in breathing, restless sleep, frequent waking and unusual sleeping positions. Daytime sleepiness and changes in behavior, concentration or mood also may occur.
When should children with Down syndrome be tested for sleep apnea?
The American Academy of Pediatrics recommends that children with Down syndrome have a sleep study by age 4, even if they do not show obvious symptoms of sleep apnea.
How is sleep apnea diagnosed in people with Down syndrome?
A sleep study is the standard test used to diagnose obstructive sleep apnea. It monitors breathing and other body functions while a person sleeps.
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