Abstract
STUDY OBJECTIVES: Sleep-disordered breathing (SDB) is common in patients with neuromuscular disorders (NMD), developing before chronic hypercapnia appears. Polysomnography (PSG) is the diagnostic gold standard but is often impractical and poorly accessible for individuals with NMD. We sought to determine the diagnostic accuracy, feasibility, and patient preference of home sleep apnea testing (HSAT) compared with PSG for the detection of SDB in NMD. METHODS: Participants with NMD at risk for SDB aged ≥ 13 years underwent HSAT followed by overnight PSG with concomitant laboratory sleep apnea testing (same device as HSAT). Sensitivity and specificity were calculated for standard apnea-hypopnea index cutoffs for mild (≥ 5 events/h), moderate (≥ 15 events/h), and severe SDB (≥ 30 events/h) and for an oxygen desaturation index ≥ 5 events/h. Receiver operating characteristic curves were built. A questionnaire assessed patient preference. RESULTS: Of 38 participants, 73% had moderate to severe SDB and 79% had technically acceptable HSAT. For an apnea-hypopnea index ≥ 15 events/h, HSAT sensitivity and specificity were 50% and 88%, respectively. For an oxygen desaturation index ≥ 5 events/h, HSAT sensitivity and specificity were 95% and 78%, respectively. The area under the receiver operating characteristic curve for an apnea-hypopnea index ≥ 15 events/h was 0.88 (95% confidence interval, 0.69-1.00) for HSAT. The HSAT underestimated the apnea-hypopnea index from PSG (bias, -10.7 ± 15.9 events/h). HSAT was preferred to PSG by 61% of participants. CONCLUSIONS: HSAT is feasible, preferred by patients, and reliable for detecting SDB in most patients, although it cannot definitively rule out SDB. Therefore, HSAT is a viable diagnostic approach for SDB in NMD when PSG is not feasible, recognizing that it does not accurately distinguish between upper-airway obstruction and hypoventilation. Additional work is needed to further optimize home sleep testing in NMD. CITATION: Westenberg JN, Petrof BJ, Noel F, et al. Validation of home portable monitoring for the diagnosis of sleep-disordered breathing in adolescents and adults with neuromuscular disorders. J Clin Sleep Med. 2021;17(8):1579-1590.