Using personal mobile technology to identify obstructive sleep apnea in children with Down syndrome (UPLOAD).

Children with Down syndrome (DS) are at high risk for obstructive sleep apnea (OSA), but access to polysomnography (PSG), the diagnostic gold standard, is limited and current screening tools have poor accuracy in this population. Parent-recorded sleep videos scored with the Monash Score (MS) may provide a simple, low-cost alternative. This cross-sectional study was conducted at the Children's Hospital of Eastern Ontario (CHEO) DS Clinic. Children with DS aged 2-18 years were recruited. Parents completed the Pediatric Sleep Questionnaire (PSQ) and recorded three short home sleep videos, scored by blinded pediatric sleep physicians using the MS (range 0-8; ≥3 indicating OSA). Within three months, participants underwent overnight PSG. OSA severity was classified by the obstructive apnea-hypopnea index (oAHI). Diagnostic performance of MS, PSQ, McGill Oximetry Score (MOS), and oxygen desaturation index (ODI3, thresholds ≥4.3 and > 7) were evaluated individually and in combination. Of 27 enrolled participants, 25 were included in the analysis (median age 7.2 years, IQR 3.9-11.7; 44% female). Eight (32%) had moderate to severe OSA (oAHI ≥5/hr). The MS showed high sensitivity (87.5%) but modest specificity (47.1%) for moderate to severe OSA. ODI3 >7 demonstrated the best accuracy (sensitivity 100%, specificity 88.2%, with a positive likelihood ratio (LR+) of 8.5). Combining MS with ODI3 improved diagnostic accuracy across all OSA severities, with area under the ROC curve increasing from 76.5 to 98.5 for moderate to severe OSA (p = 0.07). Home-recorded sleep videos scored using the MS are feasible and improve diagnostic accuracy of oximetry when combined. Video-based assessment may help triage children with DS for definitive sleep studies, optimizing use of limited PSG resources.