Down Syndrome and Sleep
Down syndrome is one of the most common genetic disorders in the United States. Because it involves an abnormality in a person’s chromosomes, it has effects throughout life, starting from birth and lasting into adulthood.
Not all people with Down syndrome have the same symptoms. The way the condition affects each individual can be different. But getting quality sleep is one struggle that confronts many people with Down syndrome.
People with Down syndrome, both children and adults, have higher rates of Obstructive Sleep Apnea (OSA), a condition of disordered breathing during the night. Other sleep issues, like parasomnias and sleep anxiety, can pose significant issues for people with Down syndrome.
In this guide, we’ll go in-depth about Down syndrome, how it affects sleep, and how sleep may be improved for people with this condition.
What is Down Syndrome?
Down syndrome is a genetic condition. People with Down syndrome have an extra copy of a chromosome in their DNA, and this means that the condition is present from birth. The extra chromosome affects development as a baby and later in life.
The effects of Down syndrome and their severity can vary from person to person. Often, children with Down syndrome have an IQ that is mild-to-moderately lower and are slower to begin speaking. Other social development issues can relate to attention, judgment, and impulsive behavior.
Some physical features are commonly found with Down syndrome. These include a face that appears flattened, especially at the nose, almond-shaped eyes with an upward angle, very small white spots on the iris, smaller ears, a short neck, reduced muscle tone, loose joints, protrusion of the tongue from the mouth, reduced height, and smaller pinky fingers that can curve toward the thumb.
Down syndrome can also occur along with other birth defects and health issues. These can include obstructive sleep apnea, ear infections, hearing problems, gastrointestinal issues, and heart defects.
The U.S. Centers for Disease Control and Prevention (CDC) estimates that about 6,000 children each year are born with Down syndrome. This translates to about 1 out of every 7,000 babies born in the U.S.
There are three types of Down syndrome, but the most prevalent -- about 95% -- is called Trisomy 21. This is a medical way of describing the presence of an extra copy of chromosome 21. The other types of Down syndrome are called Translocation Down syndrome and Mosaic Down syndrome.
Down Syndrome and Sleep
Because Down syndrome can affect mood, learning, and behavior, sleep problems in people with this condition have likely been underdiagnosed. In many cases, these issues have been attributed to the condition itself rather than as a potential consequence of poor sleep.
In recent years, though, researchers have found that people with Down syndrome face specific obstacles to sleep. These sleep problems can cause or exacerbate other health issues including those frequently associated with Down syndrome.
It is estimated that at least 50% of children with Down syndrome have sleep problems. Data for adults is more limited, but studies indicate that these issues persist as people age.
In this section, we’ll address some of the specific sleep disorders and problems that are known among people with Down syndrome.
Obstructive Sleep Apnea
What is Obstructive Sleep Apnea?
Obstructive sleep apnea (OSA) is a medical condition marked by frequent pauses in breathing. While sleeping, the airway in the throat becomes blocked, causing a person’s breathing to temporarily halt. It is often accompanied by chronic snoring or gasping.
What Are the Causes of OSA?
When someone goes to sleep, the muscle and tissue around the airway relaxes, and this can cause the airway to become obstructed.
Many factors can influence a person’s chances of developing OSA. People who have certain anatomical features that cause the airway to be naturally narrower are at a higher risk of OSA. These features include a shorter lower jaw, a larger tongue and tonsils, and/or a larger neck size.
Other risk factors include obesity, sleeping on your back, older age, family history, use of alcohol or sedatives, smoking, and major nasal congestion.
What is the Relationship Between OSA and Down Syndrome?
In both children and adults with Down syndrome, rates of OSA have been found to be significantly higher than in the general population. It is believed that at least 60% of children with Down syndrome have sleep apnea. There is less research in adults, but one very small study in adults with Down syndrome found that 94% had sleep abnormalities consistent with OSA.
There are several reasons why children and adults with Down syndrome are at higher risk of OSA. The anatomic changes associated with Down syndrome can heighten the risk of airway obstruction. These changes include reduced muscle tone and coordination of muscles near the airway, smaller air passages in the face and throat, and enlargement of the tongue, adenoids, and tonsils.
People with Down syndrome can be predisposed to obesity and regular nasal infections, and both of these can contribute to the risk of OSA as well.
What are the Health Consequences of OSA?
One of the main consequences of OSA is a reduction in sleep quantity and quality. When chronic, this can have serious health repercussions.
Poor sleep is a cause of excessive daytime sleepiness, reduced cognitive functioning and attention, irritability, and fatigue. For people with Down syndrome, these issues may be exacerbated by OSA. People with chronic lack of sleep are at higher risks of falls and other accidents at work or while driving.
OSA can contribute to cardiovascular problems such as risk of heart attack, stroke, and high blood pressure. Many people with Down syndrome already suffer from heart problems, and OSA can worsen these issues.
People with Down syndrome have problems with the circulatory system in the lungs, and OSA can increase the risk that this results in elevated blood pressure in the arteries of the lungs, which is known as pulmonary hypertension.
What Are the Symptoms of OSA?
Since the apneas happen while a person is sleeping, most people with OSA do not realize that they have it. It is often suspected after someone else observes the person gasping or snoring excessively while sleeping.
Morning headaches, dry mouth, and general daytime sleepiness are other symptoms that can lead a doctor to suspect that a person has OSA.
How is OSA Diagnosed?
OSA is diagnosed using a sleep test called polysomnography. During this test, you usually spend the night in a special lab. Equipment monitors your body, breathing, and the oxygen in your blood while you sleep, and the results can identify OSA or other sleep abnormalities.
Because it can be hard to isolate the symptoms of sleep apnea in people with Down syndrome, the American Academy of Pediatrics recommends that all children with Down syndrome have a polysonogram by age 4 to serve as a baseline for comparison in future sleep testing.
Adults with Down syndrome should make sure to raise any issues with sleep or drowsiness with a doctor who can help determine if sleep testing is appropriate.
How is OSA Treated?
Treatment for OSA can involve many approaches, and we will review these in more detail in the section on sleep solutions below.
Treatment often involves the use of a central positive airway pressure (PAP) or bi-level positive airway pressure (BiPAP) device. These help to pump air into the airway through a hose and mask worn on the face. This flow of pressurized air prevents the airway from constricting.
If surgery can correct anatomical issues that cause airway blockages, then it may be considered as a treatment option. Mouthpieces can be worn to try to hold the jaw and tongue in place to reduce airway narrowing. Lifestyle changes like losing weight, avoiding alcohol and sedatives, and sleeping on one’s side may be recommended as well.
Reduced Sleep Quality
OSA has received the bulk of the attention when it comes to sleep issues for people with Down syndrome, but some research has indicated that people with Down syndrome may have sleep patterns that harm their sleep quality independent of OSA.
One study found that children with Down syndrome may simply have a different sleep architecture, which means that they do not progress through phases of the sleep cycle in the same way as people without this condition. This means less sleep overall, more time spent in lighter, stage 1 sleep, and less time in deeper, rapid eye movement (REM) sleep.
There is no specific known course of treatment to improve the sleep architecture of children with Down syndrome. In some cases, changes to sleep architecture may be caused by OSA, and as a result, reducing OSA may similarly improve sleep architecture. Surgery to improve breathing has had mixed results in improving sleep architecture.
Following habits for good sleep hygiene and reducing other sleep disruptions may be able to contribute to improved sleep quality.
Several studies have identified sleep anxiety as an issue for people with Down syndrome. People with sleep anxiety don’t find going to bed restful; instead, they may experience it as stressful and frustrating. This can create a negative feedback loop that makes it harder to fall asleep and stay asleep.
Many people with Down syndrome have issues with mood and impulsive behavior, and this may contribute to issues with sleep anxiety.
Improving sleep hygiene and developing methods for self-calming and soothing can help to reduce the impact of sleep anxiety. Cognitive behavioral therapy (CBT) may help in addressing anxiety and developing strategies for managing it.
Abnormal behaviors during sleep are known as parasomnias. These can take on many forms including sleepwalking, night terrors, talking while asleep, and excessive body movement. Most parasomnias occur during specific stages of sleep.
Studies have shown that people with Down syndrome and other intellectual disabilities are at a higher risk of parasomnias. This is not fully understood but may be related to altered sleep architecture.
Most parasomnias are treated using medicines, but improved sleep hygiene can play a role in managing these as well.
Sleep Solutions for People With Down Syndrome
There are different ways of trying to resolve or manage the sleep issues related to Down syndrome.
Mattresses and Bedding
Like anyone, people with Down syndrome can benefit from a quality mattress, pillows, and bedding. A significant percentage of people with Down syndrome are obese, and obese people usually get better sleep on a firm to very firm mattress. A firmer mattress helps prevent excessive sinking into the bed that can misalign the spine.
Urinary incontinence can be an issue for children and adults with Down syndrome. This makes bedding that is easy to wash and dry extremely convenient. A waterproof mattress protector can help to protect against more serious damage to the mattress itself.
CPAP and BiPAP Machines
These devices maintain an open airway during sleep. Air is drawn into a machine where it is pressurized. This air is then pumped through a hose that is connected to a mask that is worn over the face.
If a sleep study shows OSA, the doctor or sleep technician can help identify whether a CPAP or BiPAP is most likely to be helpful. They can assist in identifying the best settings for the device. These machines require a prescription, so make sure to talk with the doctor if OSA is a concern.
CPAP and BiPAP Masks
Masks are generally purchased separately from the machine. There are three main types, and each can be effective depending on the person using the device and mask.
Full face masks go over the nose and mouth and are the largest of the masks used with PAP devices. Straps around the head hold the mask in place. These have the best results for people who breathe through their mouth.
Nasal masks only cover the nose and are best for people who only breathe through their nose. To keep a person from breathing through the mouth, some nasal masks have a chin strap that keeps the mouth from falling open.
The nasal pillow or nasal cradle goes beneath the nose and has prongs to pump air into the nostrils. It is lower profile than a nasal mask.
People with Down syndrome may find that some masks are uncomfortable or do not fit because of their facial anatomy. It is OK to experiment with different masks to find one that works well.
Adjusting to wearing a mask can take time, but CPAP and BiPAP machines are highly effective at resolving OSA.
Anti-snoring mouthpieces are worn at night to help hold the tongue or jaw in a specific place that reduces air flow blockage. These devices do not have a proven track record in resolving OSA, but they may help with some chronic snoring and for some people are more comfortable than wearing a mask and using a PAP machine.
If the cause of OSA is anatomical, surgery can be performed to try to prevent future blockages. Most often, this involves removal of the adenoids and tonsils in a procedure called a tonsillectomy and adenoidectomy (T&A). If other tissue remains that is blocking the airway, it may also be considered for removal. The more persistent and severe the case of OSA, the more invasive surgery may need to be to resolve breathing problems.
Cognitive Behavioral Therapy for Insomnia
This is a type of talk therapy that is designed to help a person comprehend and address underlying issues that can disrupt sleep. It generally involves multiple visits with a trained counselor over an extended period of time. It may be combined with other treatments.
Treating Nasal Congestion
People with Down syndrome are prone to infections and nasal congestion. This can complicate nighttime breathing and contribute to narrowing of the airway. For this reason, management of symptoms of nasal congestion can play a role in reducing sleep problems for people with Down syndrome.
Examples of treatments for nasal congestion include antihistamines, decongestants, and nasal sprays. It is important to consult with a doctor before beginning treatment with any of these medications.
Specific products or medical treatments can play an important role in improving sleep for people with Down syndrome, but sleep hygiene also merits attention as a way to reduce sleeping problems.
Sleep hygiene refers to the context surrounding your sleeping, specifically the sleep environment and habits regarding sleep. Practicing good sleep hygiene can eliminate disruptions and help someone ease comfortably into a calming night’s sleep.
Creating a healthy and relaxing sleep environment is an important element of sleep hygiene. Steps involved in improving the sleep environment include:
- Finding a comfortable and supportive mattress.
- Choosing bedding that is inviting and fits your needs.
- Removing blinking lights from the bedroom and eliminate light-based disruptions by using blackout curtains or an eye mask.
- Using ear plugs or a white noise machine to block out other noise.
- Sticking to a comfortable bedroom temperature.
- Making the bed feel like home. For children, this may involve keeping a favorite blanket or stuffed animal in bed.
Creating good bedtime habits is another central part of sleep hygiene. Examples include:
- Creating consistency by waking up and going to bed at the same time every day.
- Following the same bedtime routine every night. This can include brushing your teeth, taking a bath, stretching, or whatever gets you ready for bed.
- Reducing consumption of caffeine or other stimulants, especially in the afternoon and evening.
- Avoiding heavy foods late in the day or at night.
- Minimizing alcohol in the evening, and avoiding sedatives whenever possible.
- Reducing screen time of any kind for at least half an hour before bed and ideally longer.
- Keeping daytime naps to earlier in the day where they won’t make it harder to fall asleep at night.
- Including deep breathing, meditation, stretching, or other relaxation techniques as part of the pre-bedtime routine.
The National Down Syndrome Society is a non-profit organization that has a national advocacy program to increase awareness of Down syndrome and works to inform and empower parents and patients.
The National Association for Down Syndrome provides support and education to people affected by Down syndrome.
The National Down Syndrome Congress is a non-profit that provides a range of resources and promotes the well-being of people and families affected by Down syndrome.
The Up Side of Downs is a non-profit that facilitates support groups and a broad network of other services for people with Down syndrome and their family members.
The American Association of Pediatrics (AAP) publishes a guide for pediatrician’s caring for patients with Down syndrome. While medically technical, this offers extensive information about managing this condition.