Validation of a predictive model for obstructive sleep apnea in people with Down syndrome. Issue 2 (25th November 2022)

• Record Type: Journal Article
• Authors: Skotko, Brian G.; Garza Flores, Alexandra; Elsharkawi, Ibrahim; Patsiogiannis, Vasiliki; McDonough, Mary Ellen; Verda, Damiano; Muselli, Marco; Hornero, Roberto; Gozal, David; Macklin, Eric A.
• Is Part Of: American journal of medical genetics. Volume 191:Issue 2(2023)
• Page Start: 518
• Page End: 525
• Publication Date: 2022-11-25
• Subjects: Down syndrome -- obstructive sleep apnea -- trisomy 21; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.63055
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: Detecting obstructive sleep apnea (OSA) is important to both prevent significant comorbidities in people with Down syndrome (DS) and untangle contributions to other behavioral and mental health diagnoses. However, laboratory‐based polysomnograms are often poorly tolerated, unavailable, or not covered by health insurance for this population. In previous work, our team developed a prediction model that seemed to hold promise in identifying which people with DS might not have significant apnea and, consequently, might be able to forgo a diagnostic polysomnogram. In this study, we sought to validate these findings in a novel set of participants with DS. We recruited an additional 64 participants with DS, ages 3–35 years. Caregivers completed the same validated questionnaires, and our study team collected vital signs, physical exam findings, and medical histories that were previously shown to be predictive. Patients then had a laboratory‐based polysomnogram. The best modeling had a validated negative predictive value of 50% for an apnea–hypopnea index (AHI) > 1/hTST and 73.7% for AHI >5/hTST. The positive predictive values were 60% and 39.1%, respectively. As such, a clinically reliable screening tool for OSA in people with DS was not achieved. Patients with DS should continue to be monitored for OSA according to current healthcare guidelines.