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How Down syndrome affects sleep

We examine the causes, impacts, and treatments for sleep disturbance in individuals with Down syndrome.

Last Updated: May 31, 2022
How Down Syndrome Affects Sleep

Down syndrome (DS) is an increasingly prevalent genetic disorder that impacts sleep in several ways. This guide looks at the causes, diagnoses, and treatment options for improving sleep for individuals with Down syndrome.

Jump to:

What is Down syndrome?
How does Down syndrome affect sleep?
References

What is Down syndrome?

Down syndrome is the most common chromosomal condition among infants in the United States, with approximately 6,000 babies born each year with the syndrome (representing one in every 700 births).¹ According to the CDC, the prevalence of Down syndrome has risen steadily over the past several decades, with a 30% increase between 1979 and 2003 and even higher numbers today.²

Individuals with Down syndrome are born with an extra 21st chromosome, impacting mental and physical development. They often have intellectual disabilities, with low to moderately low IQ levels and slower speech development than other children.

Some identifiable features seen in those with Down syndrome include²:

Facial features

Upward-slanting almond-shaped eyes, smaller ears, flattened facial features (particularly the bridge of the nose), a tongue that tends to stick out from the mouth, tiny white spots on the iris of the eyes.

Physical features

Shorter height, shorter neck, small hands and feet, inadequate muscle tone, palmar crease in the hands, small pinky fingers that may curve toward the thumb, loose joints.

Due to these developmental challenges, many people with Down syndrome struggle with sleeping issues.

What causes Down syndrome?

Down syndrome is caused by the presence of an extra 21st chromosome. While researchers have not determined an exact cause for Down syndrome, one major risk factor is the mother’s age at conception. Mothers over the age of 35 have a significantly higher risk of giving birth to a child with DS.

How this extra 21st chromosome manifests leads to three different types of Down syndrome, although they all present the same features.

  Percentage of DS individuals affected Description
Trisomy 21 95% All cells in the body carry three copies of chromosome 21 rather than the standard two copies.
Translocation Down syndrome 3% An extra part or entire 21st chromosome is attached to a different chromosome.
Mosaic Down syndrome 2% Some cells have three copies of the 21st chromosome while others have a typical two. Those with this genotype may present fewer conditional features due to some cells with standard chromosomal numbers.

Comorbidities with Down syndrome

Some of the comorbidities that often appear with DS include:²

  • Congenital heart defects (affecting about 50% of those with DS)
  • Hearing loss (up to 75% affected)
  • Ear infections (50% to 70% affected)
  • Eye diseases (affecting up to 60%)
  • Obstructive sleep apnea (50% to 75% affected)
  • Increased risk for Alzheimer’s disease
  • Anemia
  • Iron deficiency

Diagnosis of Down syndrome

Diagnosis of Down syndrome generally occurs during pregnancy. There are two tests to detect Down syndrome in the unborn fetus.

Screening test

A screening test relies on an ultrasound and a blood test to identify signs of a third 21st chromosome. The blood test is a multiple marker serum screening, done between 15 and 20 weeks of pregnancy. In the ultrasound, your obstetrician may determine signs of DS by observing extra fluid behind the fetus’s neck. Screening tests are less dangerous and invasive for the mother and child, but they cannot provide a definitive diagnosis. If your doctor determines that you are at high risk of delivering a DS baby, your practitioner may recommend a diagnostic test.

Diagnostic test

If you’ve received a positive screening test, your physician will likely recommend a diagnostic test that can confirm DS. There are three types of tests performed: chorionic villus sampling, amniocentesis, and percutaneous umbilical blood sampling. These tests look directly at changes in the fetus’s chromosomes to determine whether or not they have DS.

Treatment options for individuals with Down syndrome

Down syndrome is a lifelong genetic condition without treatment options. However, there are many therapeutic options for improving the quality of life for an individual with DS. Due to medical advances in the past 70 years, the life expectancy of individuals with DS has risen from ten years old to 47.²

How does Down syndrome affect sleep?

The physical and mental features displayed in Down syndrome individuals can lead to several sleeping issues, including:

The most common sleep conditions associated with Down syndrome are insomnia and sleep apnea. According to the National Down Syndrome Society, 50-100% of individuals with Down syndrome suffer from sleep apnea, and almost 60% demonstrate abnormal sleep patterns by ages 3.5-4.³

Obstructive sleep apnea

Obstructive sleep apnea (OSA) occurs when your throat muscles relax during sleeping, causing a blockage in the airway that stops breathing for a few seconds. This blockage frequently results in snoring and breathing interruptions. Obstructive sleep apnea is the most common among sleep-related breathing disorders, affecting approximately 15% of all men and 5% of women.⁴

This rate is much higher in those with Down syndrome, as it’s attributed to several anatomic abnormalities associated with the condition:⁵

  • Midface hypoplasia (underdeveloped upper jaw, cheekbones, and eye sockets)
  • Obesity
  • Hypothyroidism
  • Hypotonia (poor muscle tone)
  • Gastroesophageal reflux
  • Macroglossia (enlarged tongue)
  • Adenotonsillar hypertrophy (abnormal tonsil growth)

The average lifespan of individuals with Down syndrome has risen dramatically, nearly doubling since 1980, with many people with DS now living into their 60s.⁵ As DS individuals grow up, the likelihood of developing obstructive sleep apnea rises, with prevalence nearing 100% in adulthood.³

Sleep apnea poses many dangerous risks for individuals with Down syndrome. A reduction in oxygen intake overnight can lead to:

  • Brain damage
  • Worsened congenital heart defects
  • Sleep deprivation
  • Low productivity and academic performance

Diagnosing OSA

Diagnosing OSA in Down syndrome adults may be more difficult due to several crossover symptoms from correlating issues like:⁶

  • Obesity
  • Hypoxemia
  • Hypoventilation
  • Sleep fragmentation
  • Impaired cognitive function
  • Daytime sleepiness

In a 2009 study, researchers demonstrated that 94% of adult participants with DS also had OSA, with 69% of those individuals experiencing 30 breathing pauses.⁶ The same study showed that Down syndrome adults experience over one hour of sleep loss each night due to OSA symptoms.

Due to the high comorbidity of DS and OSA, the Academy of Pediatrics recommends basic testing of infants for OSA before hospital dismissal after birth. It also recommends referring parents to a pediatric sleep laboratory for a polysomnogram between three and four years of age.⁷

Polysomnography (PSG) is the gold standard for OSA testing in DS patients, as other models have demonstrated poor sensitivity with these individuals.

Treatment options for OSA

Untreated OSA leads to significantly higher morbidity in patients with DS, contributing to cardiovascular complications, pulmonary hypertension, and psychiatric, metabolic, and neurocognitive problems.⁵

Adenotonsillectomy is the first-line surgical treatment for OSD, involving removing both the adenoids and the tonsils. However, because most children and adults with DS suffer from comorbidities that contribute to sleep-disordered breathing, between 50% and 75% of those undergoing adenotonsillectomy still have significant residual disease after the operation.⁵

The most common non-invasive treatment option for DS individuals with OSA is providing continuous positive pressure ventilation (CPAP) machines at bedtime and encouraging weight loss. Still, other options include:³

  • Uvulopalatopharyngoplasty
  • Lingual tonsillectomy
  • Glossectomy
  • Genioglossus advancement
  • Hyoid advancement
  • Craniofacial surgery

Sleep disorders and Down syndrome

Beyond OSD, In a ten-year sleep study conducted on subjects with Down syndrome, the participants exhibited more significant rates of several other sleeping impairments, including:⁵

  • Hypoventilation
  • Hypotonia
  • Hypercapnia
  • Hypoxemia
  • Pulmonary hypertension
  • Lung injury from recurrent pneumonia
  • Interstitial lung disease

According to a 2008 study published by the American Academy of Sleep Medicine, children with DS prevalently experience the following:⁸

  • Lower overall sleep time
  • Frequent nighttime awakenings
  • Less REM sleep phases
  • Greater anxiety at bedtime
  • Waking early
  • Bedwetting
  • Sleep bruxism

Tips for dealing with sleeping disorders in DS patients

You should speak with your doctor about any sleep disturbances your child may be experiencing, including (but not limited to) OSA. They may schedule tests to ensure that your child does not have OSA or any respiratory or physical issues that might need to be treated surgically.

Some of the following tips from the American Academy of Sleep Medicine may help prevent and treat sleeping disorders in children with DS:⁸

  • Establish a consistent bedtime routine (10-30 minutes nightly)
  • Prohibit caffeinated or sugary foods close to bedtime
  • Establish a relaxing bedtime setting
  • Avoid giving medicine with stimulants near bedtime
  • Interact with your child directly at bedtime (no TVs or devices)
  • Do not rock, hold, or nurse your child as they fall asleep
  • Maintain age-appropriate TV shows and video games around your child

Products to aid sleep for individuals with Down syndrome

In addition to following the tips above for making bedtime easier for those with DS, there are many products available for purchase that may aid sleep for DS individuals by accommodating their physical needs.

White noise machines and apps

White noise machines and apps aid many individuals with insomnia and difficulty falling asleep. These programs play white noise to minimize outside noises and help manifest a relaxing bedtime environment. However, if using a cell phone app, it’s essential to ensure the device is not lit up when providing sound, as this could impair sleep.

Anti-snoring products

CPAP machines provide constant oxygen for individuals suffering from sleep apnea and other breathing conditions. These machines may assist those with OAS or other issues. Additional devices to aid breathing at night include mouthpieces, nasal strips, chin straps, nasal plugs, and face masks.

Mattresses

Bedwetting is a common trait among individuals with DS. Providing protective mattresses, mattress covers, and bedding can assist with sleep disorders, keeping the individual dry throughout the night. Firm bedding is also often recommended for obese DS individuals, as it provides better support for individuals weighing more than 230 pounds.

Low-profile beds

Epilepsy is comorbid among Down syndrome adults. Low-profile beds, bed rails, and additional padding by the bed can prevent injury from falls or seizures. Bedrail pads prevent injury from banging against rails at night.

Additional resources

There are many nonprofit and research-based organizations that provide resources for parents and caregivers of Down syndrome children and adults. You can find more information about the best of them in the links below.

References

[1] Facts about Down syndrome (2021, April 6). National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention. Retrieved on May 24, 2022, from https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html.

[2] Data and statistics on Down syndrome (2020, October 23). National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention. Retrieved on May 24, 2022, from https://www.cdc.gov/ncbddd/birthdefects/downsyndrome/data.html.

[3] Obstructive sleep apnea & Down syndrome (2022). National Down Syndrome Society. Retrieved May 24, 2022, from https://www.ndss.org/resources/obstructive-sleep-apnea-syndrome/.

[4] Peppard, P., Young T., Barnet J., Palta, M., Hagen, E., & Hla, K. (2013, May 1). Increased prevalence of sleep-disordered breathing in adults. American Journal of Epidemiology, Oxford University Press. National Library of Medicine, PubMed Central. Retrieved May 24, 2022, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3639722/.

[5] Simpson, R., Oyekan, A., Ehsan, Z., & Ingram, D. (2018, September 13). Obstructive sleep apnea in patients with Down syndrome: current perspectives. Nature and Science of Sleep, Dove Press. National Library of Medicine, PubMed Central. Retrieved May 24, 2022, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6143127/.

[6] Trois, M., Capone, G., Lutz, J., Melendres, M., Schwartz, A., Collop, N., & Marcus, C. (2009, August 15). Obstructive sleep apnea in adults with Down syndrome. American Academy of Sleep Medicine. National Library of Medicine, PubMed Central. Retrieved May 24, 2022, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2725249/.

[7] Bull, M., Trotter, T., Santoro, S., Christensen, C., & Grout, R. (2022, May). Health supervision for children and adolescents with Down syndrome. The Council on Genetics, American Academy of Pediatrics. Retrieved on May 24, 2022, from https://publications.aap.org/pediatrics/article/149/5/e2022057010/186778/Health-Supervision-for-Children-and-Adolescents.

[8] Children with Down syndrome sleep poorly and have more fragmented sleep (2008, June 10). Sleep Architecture in Children with Down Syndrome, American Academy of Sleep Medicine. Retrieved May 24, 2022, from https://aasm.org/children-with-down-syndrome-sleep-poorly-and-have-more-fragmented-sleep/.