Prevalence and severity of sleep-disordered breathing in individuals with Down syndrome using a portable home-based diagnostic device: a pilot study

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.