Obstructive sleep apnea (OSA), the most common type of sleep apnea, is relatively common in children but drastically more so for those with Down syndrome. In a prospective study, 57% of young children with Down syndrome were diagnosed with OSA during sleep testing, and abnormal findings rising to 80% when additional breathing disturbances were included (1).

The Insomnia and Sleep Institute of Arizona proudly serves as the Face of Sleep Medicine in Arizona and treats pediatric patients as young as two years old. We are home to the “Top Doc” in the region for the past six consecutive years, an honor voted on by fellow sleep experts. We are an outcome-driven facility, which means a correct diagnosis always comes first.

Why Children with Down Syndrome Have a Higher Risk of OSA

Why Children with Down Syndrome Have a Higher Risk of OSA

OSA is most prevalent during the rapid eye movement (REM) stage of sleep when the body is fully relaxed and the upper airway is more likely to collapse.

Children with Down syndrome often have anatomical and physiological traits that increase this risk, including:

  • Larger tongue size
  • Midfacial hypoplasia
  • Lower muscle tone

These factors make airway obstruction more likely during sleep 

 (2). Repeated airway collapse can lower oxygen levels, increase carbon dioxide, and cause repeated arousals that disrupt normal sleep architecture in children (3, 4, 5)

Dr. Christopher Hartnick, director of pediatric otolaryngology at Mass Eye and Ear, explains the striking difference in prevalence: “About 80 percent of kids with Down syndrome have the condition, compared to only 5 percent of the general pediatric population. This is due in part to children with Down syndrome having a larger tongue and lower muscle tone that further restrict the airway.” (6) 

The Reality of OSA Issues in Pediatric Patients

OSA affects individuals across the lifespan, but in children it has been linked to:

  • Neurobehavioral deficits
  • Impaired learning
  • Cognitive dysfunction (7). 

Beyond weight status, pediatric OSA is associated with cardiometabolic complications including hypertension, insulin resistance, and systemic inflammation, even in non-obese children (8). 

Research on sleep disorders in children with Down syndrome has historically been limited, but national initiatives such as the NIH-supported INCLUDE Project are expanding investigation into health conditions affecting this population, including sleep and breathing disorders (9).

Can Children with Down Syndrome Use At-Home Sleep Apnea Testing?

The American Academy of Sleep Medicine currently does not recommend at-home sleep apnea testing for children (10). This is why the vast majority of sleep centers exclusively offer clinical testing. 

However, some researchers are supporting initiatives in favor of in-home testing for key populations, such as kids with Down syndrome (11). The goal is to allow faster diagnosis and treatment, especially given the challenges many families face with lab testing.(11).

Real Stories from Families:

Kate Dougherty, mother of Elliot who has Down syndrome, shared her journey: “It’s been a miracle. Once we were able to get the sleep apnea under control, all of the other pieces began to fall together.” She pairs all of Elliot’s doctor’s appointments with special treats – when they flew from Missouri to Boston for a new sleep apnea treatment, three days after surgery, Elliot was at his first Red Sox game (12).

Rachel and Andrew Scott, parents of 4-year-old Theo who has Down syndrome, described the profound impact of untreated sleep apnea: “The most significant change we have seen is the amount of sleep Theo is now getting, routinely over 10 hours a night versus what we experienced with CPAP where he would pull his mask off up to fifteen times a night. Theo sleeping through the night has also benefitted us as parents since we would need to get up and assist him, and we could each feel the toll poor sleep was taking on our health.” (13).

The Current State of Pediatric Sleep Apnea Testing

Right now, the common route for diagnostic testing for OSA requires overnight stays where the patient is connected to multiple leads, sensors, and straps. This is required to monitor movement. Additionally, a pulse oximeter and nasal probe are used. 

Treating Sleep Apnea in Children with Down Syndrome

Most children with OSA undergo adenotonsillectomy (14). However, this approach may not always be ideal for children with Down syndrome. Instead, adopting CPAP therapy in lieu of surgery (which is the gold standard for adults with OSA) might be more appropriate (14). 

All families included in the study will be interviewed, including those who currently use CPAP therapy. Researchers are also interviewing families to understand real-world challenges and identify ways to improve support.

Dr. John Garcia notes a key challenge: “People who have Down syndrome simply do not adhere to CPAP as well.” He explains that the FDA has authorized the hypoglossal nerve stimulator for individuals with Down syndrome as young as 13 years old, creating a new treatment option for patients who cannot tolerate CPAP. FDA authorization expands treatment options (15). 

Why Early Screening Is Recommended

The American Academy of Pediatrics recommends routine sleep study screening for children with Down syndrome around ages 3-4, or earlier if symptoms appear(16). Screening is recommended even without clear symptoms because caregiver reports and physical exams may miss obstructive sleep apnea. 

Polysomnography remains the diagnostic gold standard (16, 17, 18).

Untreated OSA in children with Down syndrome has been associated with:

  • Attention and behavioral difficulties
  • Poorer developmental outcomes
  • Neurocognitive and cardiovascular effects that reduce quality of life

 (19,20). 

How Parents Can Prepare for a Pediatric Sleep Evaluation

Preparing for a pediatric sleep evaluation can improve accuracy and reduce stress. Parents can:

  • Keep a sleep diary to document bedtime, wake time, night awakenings, snoring, and daytime sleepiness (21)
  • Note observed symptoms such as snoring, breathing pauses, or unusual nighttime behaviors to share with clinicians (22)
  • List relevant medical history, including airway surgery, allergies, asthma, and previous sleep concerns (21)
  • Bring familiar comfort items if an overnight sleep study is scheduled to support more natural sleep

If polysomnography is recommended, explaining the procedure in simple, reassuring language can reduce fear. Sleep studies are noninvasive and designed to monitor breathing, oxygen levels, brain activity, and movement during sleep.

Open communication about sensory sensitivities or developmental needs allows the clinical team to adjust the environment when possible. Careful preparation helps ensure the evaluation reflects the child’s typical sleep patterns and supports accurate diagnosis and appropriate treatment planning.

A Historical Perspective:

Down syndrome was first clinically described in 1838 by French physician Jean-Etienne Esquirol. Later in 1866, English physician John Langdon Down published detailed observations. The genetic cause wasn’t discovered until January 26, 1959, when French doctors Jérôme Lejeune, Marthe Gautier and Raymond Turpin identified trisomy 21, an extra copy of chromosome 21. This breakthrough became a milestone in understanding and treating children with Down syndrome (23).

Pediatric Sleep Apnea Evaluation in Arizona

If you or your child has trouble with sleep disorders, including OSA, working with the leading sleep specialists is the best way to get the support you deserve. 

The Insomnia and Sleep Institute of Arizona provides comprehensive pediatric sleep evaluations in  Phoenix, Scottsdale, and Gilbert. Connect with our team by calling the office or, for the fastest response, complete the online form today.

References

  1. Shott, S. R., Amin, R., Chini, B., Heubi, C., Hotze, S., & Akers, R. (2006). Obstructive Sleep Apnea. Archives of Otolaryngology–Head & Neck Surgery, 132(4), 432. https://doi.org/10.1001/archotol.132.4.432
  2. Kingshott, R. (2009, August 15). Obstructive Sleep Apnea is Prevalent in Adults with Down Syndrome – American Academy of Sleep Medicine – Association for Sleep Clinicians and Researchers. American Academy of Sleep Medicine – Association for Sleep Clinicians and Researchers. https://aasm.org/obstructive-sleep-apnea-is-prevalent-in-adults-with-down-syndrome/
  3. Chang, S. J., & Chae, K. Y. (2010). Obstructive sleep apnea syndrome in children: Epidemiology, pathophysiology, diagnosis and sequelae. Korean Journal of Pediatrics, 53(10), 863. https://doi.org/10.3345/kjp.2010.53.10.863
  4. Gouthro, K., Kadam, S. J., Abdulghani Sankari, & Slowik, J. M. (2025, December). Pediatric Obstructive Sleep Apnea. Nih.gov; StatPearls Publishing. https://www.ncbi.nlm.nih.gov/books/NBK557610/
  5. DynaMed. (2026). Dynamed.com. https://www.dynamed.com/condition/obstructive-sleep-apnea-osa-in-children#GUID-456A980A-3E0A-4D6C-B7B5-179F9BD99CEE
  6. Jaslow, R. (2022, November 3). Sleep Apnea Device a Game-changer for Children with Down Syndrome and Adults Who Fail CPAP – FOCUS. FOCUS. https://focus.masseyeandear.org/sleep-apnea-device-a-game-changer-for-children-with-down-syndrome-and-adults-who-fail-cpap/
  7. Halbower, A. C., Degaonkar, M., Barker, P. B., Earley, C. J., Marcus, C. L., Smith, P. L., Prahme, M. C., & Mahone, E. M. (2006). Childhood Obstructive Sleep Apnea Associates with Neuropsychological Deficits and Neuronal Brain Injury. PLoS Medicine, 3(8), e301. https://doi.org/10.1371/journal.pmed.0030301
  8. Smith, D. F., & Amin, R. S. (2019). OSA and Cardiovascular Risk in Pediatrics. Chest, 156(2), 402–413. https://doi.org/10.1016/j.chest.2019.02.011
  9. INCLUDE Project/Down Syndrome Research Plan. (2025, July 16). National Institutes of Health (NIH). https://www.nih.gov/include-project/down-syndrome-research-plan
  10. Kirk, V., Baughn, J., D’Andrea, L., Friedman, N., Galion, A., Garetz, S., Hassan, F., Wrede, J., Harrod, C. G., & Malhotra, R. K. (2017). American Academy of Sleep Medicine Position Paper for the Use of a Home Sleep Apnea Test for the Diagnosis of OSA in Children. Journal of Clinical Sleep Medicine, 13(10), 1199–1203. https://doi.org/10.5664/jcsm.6772
  11. Gaffney, T. (2022, April 21). For kids with Down syndrome, a new device offers hope for treating difficult sleep problems. STAT. https://www.statnews.com/2022/04/21/down-syndrome-sleep-apnea-inspire/
  12. Case Study of 4-Year-Old with Down Syndrome and Sleep Apnea Suggests Hypoglossal Nerve Stimulation Can Be Effective Treatment at Young Ages | Mass General Brigham. (2024, April 11). Massgeneralbrigham.org. https://www.massgeneralbrigham.org/en/about/newsroom/press-releases/down-syndrome-sleep-apnea-study
  13. American Thoracic Society. (n.d.). https://www.thoracic.org/patients/patient-resources/resources/osa-in-children.pdf
  14. Cunningham, G. (2023, November 2). Down Syndrome and Sleep Help. Gillette Children’s. https://www.gillettechildrens.org/stories/down-syndrome-and-sleep-help
  15. Bull, M. J., Trotter, T., Santoro, S. L., Christensen, C., & Grout, R. W. (2022). Health supervision for children and adolescents with down syndrome. Pediatrics, 149(5). https://doi.org/10.1542/peds.2022-057010
  16. Villa, M. P., Pietropaoli, N., Supino, M. C., Vitelli, O., Rabasco, J., Evangelisti, M., Del Pozzo, M., & Kaditis, A. G. (2015). Diagnosis of Pediatric Obstructive Sleep Apnea Syndrome in Settings With Limited Resources. JAMA Otolaryngology–Head & Neck Surgery, 141(11), 990. https://doi.org/10.1001/jamaoto.2015.2354
  17. Brietzke, S. E., Katz, E. S., & Roberson, D. W. (2004). Can History and Physical Examination Reliably Diagnose Pediatric Obstructive Sleep Apnea/Hypopnea Syndrome? A Systematic Review of the Literature. Otolaryngology–Head and Neck Surgery, 131(6), 827–832. https://doi.org/10.1016/j.otohns.2004.07.002
  18. Anand, V., Shukla, G., Gupta, N., Gupta, A., Sapra, S., Gulati, S., Pandey, R. M., Pandey, S., & Kabra, M. (2021). Association of Sleep Apnea With Development and Behavior in Down Syndrome: A Prospective Clinical and Polysomnographic Study. Pediatric Neurology, 116, 7–13. https://doi.org/10.1016/j.pediatrneurol.2020.10.007
  19. Nguyen, D.-T., Bricout, V.-A., Tran, H.-T., Pham, V.-H., & Duong-Quy, S. (2023). Sleep apnea in people with Down syndrome: Causes and effects of physical activity? Frontiers in Neurology, 14. https://doi.org/10.3389/fneur.2023.1123624
  20. Wilbanks, J. (2023, January 18). Sleep Diary – Sleep Education. Sleep Education. https://sleepeducation.org/resources/sleep-diary/
  21. Gipson, K., Lu, M., & Kinane, T. B. (2019). Sleep-Disordered Breathing in Children. Pediatrics in Review, 40(1), 3–13. https://doi.org/10.1542/pir.2018-0142
  22. Nguyen, D.-T., Bricout, V.-A., Tran, H.-T., Pham, V.-H., & Duong-Quy, S. (2023). Sleep apnea in people with Down syndrome: Causes and effects of physical activity? Frontiers in Neurology, 14. https://doi.org/10.3389/fneur.2023.1123624

 

Disclaimer: The information provided in this blog post is for educational and informational purposes only and is not intended as a substitute for professional medical advice, diagnosis, or treatment. Always consult with a licensed healthcare provider for recommendations specific to your individual health needs.