Abstract
Down syndrome (DS) is associated with craniofacial abnormalities, muscular hypotonia, and upper airway obstruction, factors that increase the risk of obstructive sleep apnea (OSA). Despite the high likelihood of sleep-disordered breathing in this population, diagnostic access remains limited, especially in low-resource settings. This study aimed to determine the prevalence and severity of sleep-disordered breathing in adolescents and adults with DS. This cross-sectional study included adolescents and adults with DS who underwent home type IV polygraphy (Biologix) and completed validated questionnaires assessing OSA risk and excessive daytime sleepiness. Anthropometric data were collected, and correlations with respiratory parameters were analyzed. OSA was highly prevalent, affecting 93% of participants. Mild to moderate OSA predominated (80%). Respiratory events were frequently accompanied by oxygen desaturation, with marked nocturnal hypoxemia (mean minimum SpO₂: 82.4%). Sleep was inefficient and fragmented, with efficiency below 75% in most individuals. Neck circumference showed a significant correlation with nocturnal hypoxemia, whereas age and body weight did not. Subjective sleep questionnaires underestimated OSA severity compared with polygraphy. Sleep-disordered breathing appears to be highly prevalent and physiologically relevant in individuals with DS. Home type IV polygraphy proved feasible, well-accepted, and clinically informative for this population. These findings highlight the importance of accessible diagnostic strategies to improve early detection and management of OSA in individuals with DS.
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We would like to thank all the patients and their respective parents who collaborated in the conduct of this research.
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This study protocol was approved by the Ethics Committee for Human Research of the Institute of Science and Technology, UNESP, São José dos Campos (CAAE: 64173616.4.0000.0077). All the parents of the patients involved in the study provided the written Consent Form for participation in the research.
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Matsui Yamaguchi, M.Y., Silva Nunes, C.N., de Freitas Júnior, W.R. et al. Prevalence and severity of sleep-disordered breathing in individuals with Down syndrome using a portable home-based diagnostic device: a pilot study. Sci Rep (2026). https://doi.org/10.1038/s41598-026-46328-w
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DOI: https://doi.org/10.1038/s41598-026-46328-w
