Nocturnal REM Sleep Without Atonia Is a Diagnostic Biomarker of Pediatric Narcolepsy.

STUDY OBJECTIVES: Compare nocturnal REM sleep without atonia (nRWA) and REM sleep behavior disorder (RBD) between pediatric patients with and without narcolepsy and determine if the nRWA index is a valid diagnostic biomarker for narcolepsy.

METHODS: Retrospective cohort study of children ages 6 to 18 years who completed a nocturnal polysomnogram (PSG) and Multiple Sleep Latency Test (MSLT). Our study sample included 11 patients with narcolepsy type 1 (NT1), 6 with narcolepsy type 2 (NT2), 12 with idiopathic hypersomnia (IH), and 11 with subjective hypersomnia (sHS). We compared group nRWA indices (epochs of RWA/total stage R sleep epochs) from the nocturnal PSGs and analyzed nRWA index receiver operating curve (ROC) statistics for narcolepsy diagnosis.

RESULTS: The median nRWA index of patients with NT1 was 15 to 30 times higher compared to sHS and IH ( P s < .005) but similar to that of the NT2 group ( P = .46). RBD was present in 25% of patients with narcolepsy (NT1 and NT2). In comparing those with and without narcolepsy, the nRWA index area under the curve was 0.87 (0.6), 95% confidence interval (CI) = 0.75 to 0.99, P < .001. The threshold of having ≥ 1% of stage R sleep epochs with nRWA yielded a sensitivity of 88.2%, 95% CI = 63.6-98.5 and specificity of 60.9%, 95% CI = 38.5 to 80.3 for diagnosis of narcolepsy. In contrast, a threshold of ≥ 8% yielded a specificity of 95.7%, 95% CI = 78.1 to 99.9 and sensitivity of 52.9%, 95% CI = 27.8 to 77.

CONCLUSIONS: The nRWA index is a very good diagnostic biomarker of pediatric narcolepsy. Depending on the clinical cutoffs utilized, this biomarker can identify more children/adolescents with narcolepsy using just the PSG or reduce false-positive diagnostic results.