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Updated: Jan 4, 2026
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Published on: December 6, 2016
The spectrum of obstructive sleep apnea in infants and children with Down Syndrome
Karen A Waters1, Chenda Castro2, Jasneek Chawla3
1Department of Sleep Medicine, The Children's Hospital at Westmead, SIDS and Sleep Apnoea Research, Discipline of Child and Adolescent Health, School of Medicine, University of Sydney, Australia; Department of Sleep Medicine, The Children's Hospital at Westmead, Australia.
Insights
Children with Down syndrome show a wide range of obstructive sleep apnea (OSA) severity from infancy. Multiple sleep studies reveal disease progression and treatment effectiveness, while single studies may underestimate OSA severity.
Area of Science:
- Pediatric Sleep Medicine
- Genetics and Rare Diseases
- Respiratory Medicine
Background:
- Obstructive sleep apnea (OSA) is a common comorbidity in children with Down syndrome.
- The spectrum and progression of OSA in this population over time are not fully characterized.
- Understanding OSA patterns is crucial for timely diagnosis and management in children with Down syndrome.
Purpose of the Study:
- To describe the full spectrum of obstructive sleep apnea (OSA) severity and its changes over time in infants and children with Down syndrome.
- To analyze the impact of multiple polysomnograms (PSG) versus single PSG on OSA assessment.
- To evaluate the effectiveness of interventions, such as surgery, on OSA in this cohort.
Main Methods:
- Retrospective review of polysomnography (PSG) records from Australian tertiary sleep centers.
- Inclusion of 152 children with Down syndrome, with lifetime sleep study and treatment records retrieved through 2018.
- Analysis of an average of 3.8 studies per child, with some undergoing up to 17 studies.
Main Results:
- 38.2% of children had mild OSA at worst; however, children with multiple studies (≥2) were more likely to have moderate or severe OSA (78.0%) at some point.
- OSA severity was more frequently severe in children under 2 years old compared to older children.
- Surgical interventions, primarily adenotonsillectomy, resolved OSA to mild or normal in 53.3% of cases.
Conclusions:
- A comprehensive spectrum of sleep-disordered breathing exists in children with Down syndrome from infancy.
- Single polysomnograms may underestimate OSA severity, whereas multiple studies reflect disease surveillance and treatment follow-up.
- Early identification and consistent monitoring are vital for managing OSA in children with Down syndrome.
Objective:
Describe the spectrum of OSA across time in infants and children with Down syndrome.
Methods:
Retrospective records review of children who underwent formal polysomnography (PSG) in one of two Australian tertiary sleep centres over selected 3.5-year periods. 152 children were identified, then all sleep study and treatment records were retrieved for the lifetime of the child through 2018.
Results:
3.8 ± 3.2 studies (range 1-17) were retrieved per child and 38.2% had mild disease at worst. Children having only 1 study were more likely to have a normal or mild result than those having ≥2 (chi-square 11.25, p-value 0.0008) Studies were more often severe in children age <2 compared to those ≥2 years, (chi-square 12.87, p = 0.005). After age 2 years, OSA severity increased with age. Amongst 91 (56.4%) children with ≥2 studies, 71 (78.0%) had moderate or severe disease at some time. Studies evaluating the effects of surgery (most often adenotonsillectomy) showed resolution of disease to mild or normal in 53.3%. Where ≥2 studies were evaluated, the last study polarised towards normal or mild disease 40 (44.0%), or treatment titrations 34 (37.4%) with moderate or severe disease in 17 (18.7%).
Conclusions:
In a tertiary sleep unit, a full spectrum of sleep disordered breathing in Down syndrome was seen from infancy onwards. Children having only one study were more likely to have normal results. Children with multiple studies reflected disease surveillance, including follow-up after treatment interventions.
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