Use of Portable 24-Hour Polysomnography as Alternative Diagnostic Tool for Narcolepsy Type 1 in Adults and Children

Background and objectives: The diagnosis of narcolepsy type 1 (NT1) currently requires the multiple sleep latency test (MSLT), or a nocturnal sleep-onset REM period (SOREMP) combined with typical cataplexy, or alternatively the determination of CSF hypocretin-1 (CSF-hcrt-1) deficiency. We evaluated the 24-hour polysomnography (PSG) recordings in adult and pediatric patients as an alternative diagnostic tool. Methods: Patients of any age, referred to the narcolepsy center of a university hospital for suspected central disorder of hypersomnolence (CDH), were consecutively recruited between 2013 and 2022. Participants underwent 2 days (day1-night1-day2-night2) of continuous dynamic PSG followed by MSLT. When consent was given, CSF-hcrt-1 was measured. The accuracy of 24-hour PSG variables from night1 and day2 (index test) was assessed with receiver operating characteristic (ROC) curve analysis in identifying NT1 based on current criteria (applied to night2-PSG, MSLT, and CSF-hcrt1). The markers with area under the curve (AUC) ≥0.75 were then tested in adults and children, separately, and to diagnose NT1 and narcolepsy type 2 (NT2) in different scenarios. Results: Eight hundred seven patients (30.1% pediatric, 52.4% male) were included, and 709 had CSF-hcrt-1 measured. According to the standard criteria, 322 were diagnosed with NT1 (mean age 26.7 ± 17.1 years, 40.4% pediatric, 54.0% male) and 484 with non-NT1 (mean age 32.7 ± 16.5 years, 23.3% pediatric, 51.3% male), encompassing 31 with NT2, 163 with idiopathic hypersomnia, and 281 with other diagnoses. Detecting SOREMP ≥1 during daytime resulted in AUC = 0.84 (95% CI 0.82-0.87), with 84.4% sensitivity and 84.5% specificity for NT1. Performance was superior to all nighttime-PSG measures (p < 0.001) including nighttime-SOREMP (AUC = 0.77, 95% CI 0.74-0.80; sensitivity = 62.1%, specificity = 91.7%) and did not differ from 24-hour SOREMP ≥1 (AUC = 0.85, 95% CI 0.82-0.87; sensitivity = 89.7%, specificity = 80.2%). The combination of daytime-SOREMP ≥1 with cataplexy showed AUC = 0.89 (95% CI 0.86-0.91) for NT1, superior to the combination of nighttime-SOREMP with cataplexy (AUC = 0.78, 95% CI 0.76-0.81, p < 0.001) and similar to MSLT criteria for narcolepsy (AUC = 0.90, 95% CI 0.88-0.92, p = 0.36). Performances were similar in adults and children. Daytime-SOREMP ≥1 identified NT1 and NT2 combined within all CDH with a sensitivity of 80.8% and specificity of 88.0%. Conclusions: The detection of daytime-SOREMP during dynamic 24-hour PSG is more accurate than nighttime-SOREMP for diagnosing narcolepsy and, combined with cataplexy, is comparable with MSLT criteria for the identification of NT1. These results offer the prospect of 24-hour PSG diagnostics for NT1 in the home setting. Classification of evidence: This study provides Class II evidence that daytime SOREMP during a 24-hour PSG accurately distinguishes NT1 in patients with a clinical history of possible cataplexy from those who do not have NT1.