Key Points
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Sleep apnea is the temporary stoppage of breathing while sleeping.
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Sleep apnea is more common in people with Down syndrome.
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There are 3 types of sleep apnea. The most common type in people with Down syndrome is obstructive sleep apnea.
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Untreated sleep apnea can cause many symptoms and is associated with an increased risk of developing Alzheimer's disease in people with Down syndrome.
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There are a variety of treatments available for sleep apnea. A positive airway device (CPAP or BiPAP) is prescribed most often.
Sleep basics
While we may feel relaxed while we are sleeping, our bodies are busy performing many functions. Sleep helps us recharge, recover from injuries and illnesses, store memories, maintain healthy brains, and more.
There are different stages of sleep (1, 2, 3, and REM), and each stage has its own level of sleep (light, intermediate, or deep sleep). Typically, our bodies cycle through the stages of sleep multiple times throughout the night.
The amount of sleep we need changes throughout our life. In general, adults need 7 or more hours of sleep per night.
Sleep apnea basics
When people have sleep apnea, they stop breathing for periods of time during their sleep. Sleep apnea disrupts normal sleep cycles and causes low oxygen levels when breathing is paused.
Symptoms
Symptoms of sleep apnea include:
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Daytime sleepiness
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Snoring
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Pauses in breathing
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Nighttime arousal and/or awakening
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Headaches
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Changes in behavior and mood (aggressive behavior, anxiety, depression, etc.)
Types
There are 3 types of sleep apnea: obstructive, central, and complex sleep apnea.
Obstructive sleep apnea occurs when the airway (throat) muscles relax and “collapse.” This prevents air from passing into the lungs. It typically happens when the person breathes in and not when they breathe out. The muscles that control breathing work appropriately to bring in air, but the air cannot get into the lungs because of the relaxed airway (throat) muscles.
OSA is the most common type of sleep apnea in people with and without Down syndrome.
Central sleep apnea occurs when the brain does not send the appropriate signals to the muscles that control breathing.
Complex sleep apnea is also called "treatment-emergent central sleep apnea." It occurs when someone with OSA is receiving treatment and then develops central sleep apnea.
Sleep apnea and Down syndrome
Sleep apnea is much more common in people with Down syndrome compared to people without Down syndrome. It is estimated that 78-100% of adults with Down syndrome may have sleep apnea. There are several factors that can increase the risk of sleep apnea and/or increase the severity of sleep apnea in people with Down syndrome.
Airway differences
Differences in the airways of many people with Down syndrome can cause obstruction. Decreased muscle tone contributes to more airway collapse and compression during sleep. Smaller airways and enlarged lymphoid tissue (e.g., tonsils) increase the risk of airway obstruction. Additionally, people with Down syndrome tend to have relatively large tongues compared to the size of their mouth and pharynx (upper airway).
Health conditions
There are also several health conditions that are more common in people with Down syndrome that contribute to sleep apnea.
It is important to note that people with Down syndrome who do not have one of these conditions can still have sleep apnea.
Use of sedatives
The use of sedatives or alcohol can also contribute to sleep apnea. People with Down syndrome have a higher rate of mental health issues, and the medications used to treat them may cause sedation.
Despite the increased risk of developing sleep apnea, it is often not diagnosed or treated adequately in people with Down syndrome. The symptoms and signs of sleep apnea are often not obvious from observation alone. Testing (such as a sleep study) is needed to make the diagnosis but some individuals with Down syndrome have difficulty complying with the testing. Sleep apnea is also often not treated adequately in people with Down syndrome because of difficulty complying with treatment.
Untreated sleep apnea in people with Down syndrome has been associated with:
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Changes in behavior and mood (aggressive behavior, anxiety, depression, etc.)
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Development of more amyloid in the brain and an increased risk of developing Alzheimer's disease
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Reduced quality of life
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Potential damage to heart, kidneys, and other organs
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Pulmonary hypertension (elevated blood pressure in the blood vessels in the lungs)
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And other health conditions
Diagnosing sleep apnea
A health care professional will take a history (ask questions about a person’s health) and perform a physical exam. Since symptoms may be difficult to observe, individuals with Down syndrome and their families may not notice symptoms, such as pauses in breathing. It is important to assess for other symptoms such as changes in behavior, loss of skills, and mood changes. Based on the history and physical exam, the health care professional may order a sleep study or refer the individual to a sleep physician for further evaluation and testing.
There are a few types of sleep studies:
Polysomnography
Polysomnography is a sleep study done in a sleep lab. An individual goes to a hospital or clinic and is monitored while they sleep. Several sensors and devices are used to assess the individual’s sleep stages, breathing, oxygen in the blood, limb movements, and heart rate and rhythm.
One of the measures in a sleep study is the apnea-hypopnea index (AHI). Apnea is defined as the stopping of breathing for a period of 10 or more seconds. Hypopnea is defined as a reduction in airflow or partial obstruction. The AHI is the average number of apneas and hypopneas per hour during sleep. An AHI of 5 or fewer per hour is considered “normal.” An AHI of 5 or more per hour is considered “sleep apnea.” An AHI of 30 or more per hour is considered “severe sleep apnea.”
Home sleep study
A home sleep study does not require going to a hospital or clinic. It does not assess as many signs as the in-lab study. It typically measures breathing and oxygen but not the sleep itself. It involves wearing a mask like an oxygen mask and several sensors. Some insurers require a sleep study in the lab in order to cover the treatment with CPAP or BiPAP so that can limit use of the home testing.
Hand or wrist devices
This is another form of home study that is designed to be easier for the person being tested to tolerate. Small devices are worn on the hand or wrist while sleeping at home. Research on the use of these devices by people with Down syndrome found that only 61% of the individuals with Down syndrome in the study tolerated the devices. While it can be used to detect sleep apnea in individuals with Down syndrome, research comparing the accuracy of these hand or wrist devices to polysomnography has not been done specifically in people with Down syndrome.
Screening for sleep apnea
The American Academy of Pediatrics recommends screening all children with Down syndrome between the ages of 3 and 4 years of age for sleep apnea. Currently, there is not a screening recommendation for adults with Down syndrome in the United States. This topic has not yet been reviewed as part of the Global Medical Care Guidelines for Adults with Down Syndrome.
Although a screening recommendation for adults with Down syndrome has not been made, testing for sleep apnea should still be considered for many adults with Down syndrome. Many adults with Down syndrome have symptoms of sleep apnea, complications of untreated sleep apnea, and/or other health conditions that can contribute to sleep apnea. For example, if a person is noted to gain a significant amount of weight, a sleep study should be considered for the person.
Treating sleep apnea
Positive airway pressure
Positive airway pressure (CPAP or BiPAP) is the most common treatment for sleep apnea. It involves wearing a mask over the mouth and/or nose. A flexible tube connects the mask to a machine that forces air under pressure to the airway to keep the airway open when the person breathes in.
While some people with and without Down syndrome have difficulty using CPAP or BiPAP, others use it quite effectively. The Resources section at the end of the article has links to visuals and videos that can be used to support successful use of a CPAP or BiPAP device.
Positional treatment
Many people experience sleep apnea or increased sleep apnea when sleeping on their back. Positional treatment involves using various methods to encourage sleeping on one’s side (and discourage sleeping on one’s back) to reduce sleep apnea.
Oral appliances
Mouth pieces or other oral appliances are used to keep the airway open when sleeping.
Surgery
Removal of the tonsils and adenoids is a surgical option in children. This tends to be less effective in adults.
Upper airway stimulation involves surgically implanting a small device called a hypoglossal nerve stimulator. The hypoglossal nerve is a nerve that controls the muscles of the tongue. The device sends a signal to the hypoglossal nerve which causes the tongue to protrude and the airway to open. A remote control is used to turn on the device when going to sleep and turn off the device upon wakening. More information is available in this webinar.
The American Academy of Sleep Medicine website describes other surgical options. However, in our experience, our patients have had limited success with them, and we have noted the potential for significant complications.
Medications
Tirzepatide
In December 2024, the FDA approved tirzepatide (that goes by the trade names Zepbound and Mounjaro) for obstructive sleep apnea. Tirzepatide was previously approved for treating type 2 diabetes mellitus and promoting weight loss. In reviewing a study on tirzepatide's effect on sleep apnea, the benefit seems to be related to the weight loss rather than a direct effect of the medication on sleep apnea. Therefore, it is only demonstrated to reduce sleep apnea as weight is lost in those that are obese.
While the study with tirzepatide that led to the FDA approval was not done in people with Down syndrome, it is possible that tirzepatide may have the same effect on weight and sleep apnea in people with Down syndrome. However, research is needed to determine how effective tirzepatide is for people with Down syndrome and sleep apnea and what side effects can be expected.
Medications for persistent sleepiness
For those with persistent sleepiness from sleep apnea (even if they are successfully using other treatments), the stimulants armodafinil and modafinil are FDA-approved. Solriamfetol is another medication that is not considered a stimulant (but does have some abuse potential) that is also FDA-approved for persistent sleepiness.
Other medications
A combination of two medications – atomoxetine and oxybutynin – has shown benefit in treating obstructive sleep apnea but the combination is not approved by the FDA for sleep apnea. When a physician prescribes these medications for sleep apnea, it is considered “off-label,” meaning that the drugs are FDA-approved but for different conditions. They are not available as a single combination medication.
Atomoxetine (Strattera) is used to treat attention deficit disorder. Oxybutynin (Ditropan) is used to treat overactive bladder. Together, they have been studied for sleep apnea and shown to reduce sleep apnea in the non-Down syndrome population. A small study done in children with Down syndrome showed some, but limited, benefit in treating sleep apnea.
Other treatments
Weight loss can improve sleep apnea for some individuals with Down syndrome. For individuals with nasal congestion, using saline drops, nasal steroids, and/or decongestants can reduce the congestion and the resulting narrowing of the airway.
Preventing sleep apnea
Individuals may reduce their risk of sleep apnea by maintaining or getting to a healthy body weight (not obese) and/or reducing nasal congestion.
Resources
Down syndrome
Advancement in the Treatment of Obstructive Sleep Apnea Webinar Recording
Gastroesophageal Reflux Disease
Going for a Sleep Study Story
Going to Get My Sleep Mask Story
How to Use a CPAP Machine Video
Hypothyroidism
Weight Management
General
Brain Basics: Understanding Sleep (National Institute of Neurological Disorders and Stroke)
CPAP Therapy (American Academy of Sleep Medicine)
FDA Approves First Medication for Obstructive Sleep Apnea (Food and Drug Administration)
How Many Hours of Sleep? (Mayo Clinic)
Obstructive Sleep Apnea (American Academy of Sleep Medicine)
Oral Appliance Therapy (American Academy of Sleep Medicine)
Positional Therapy (American Academy of Sleep Medicine)
Sleep Apnea (Cleveland Clinic)
Sleep Basics (Cleveland Clinic)
References
Alma MA, Nijenhuis-Huls R, de Jong Z, Ulgiati AM, de Vries A, Dekker AD. Detecting sleep apnea in adults with Down syndrome using WatchPAT: A feasibility study. Res Dev Disabil. 2022;129:104302. doi:10.1016/j.ridd.2022.104302
Combs D, Edgin J, Hsu CH, et al. The combination of atomoxetine and oxybutynin for the treatment of obstructive sleep apnea in children with Down syndrome. J Clin Sleep Med. 2023;19(12):2065-2073. doi:10.5664/jcsm.10764
Hizal M, Satırer O, Polat SE, et al. Obstructive sleep apnea in children with Down syndrome: Is it possible to predict severe apnea? Eur J Pediatr. 2022;181(2):735-743. doi:10.1007/s00431-021-04267-w
Malhotra A, Grunstein RR, Fietze I, et al. Tirzepatide for the treatment of obstructive sleep apnea and obesity [published correction appears in N Engl J Med. 2024 Oct 17;391(15):1464. doi: 10.1056/NEJMx240005.]. N Engl J Med. 2024;391(13):1193-1205. doi:10.1056/NEJMoa2404881
Nguyen DT, Bricout VA, Tran HT, Pham VH, Duong-Quy S. Sleep apnea in people with Down syndrome: Causes and effects of physical activity? Front Neurol. 2023;14:1123624. doi:10.3389/fneur.2023.1123624
Taranto-Montemurro L, Messineo L, Sands SA, et al. The combination of atomoxetine and oxybutynin greatly reduces obstructive sleep apnea severity. A randomized, placebo-controlled, double-blind crossover trial. Am J Respir Crit Care Med. 2019;199(10):1267-1276. doi:10.1164/rccm.201808-1493OC