Idling for Decades: A European Study on Risk Factors Associated with the Delay Before a Narcolepsy Diagnosis

作者：Zhongxing Zhang, Yves A Dauvilliers, Giuseppe Plazzi, Geert Mayer, Gert Jan Lammers, Joan Santamaría, Markku Partinen, Sebastiaan Overeem, Rafael del Río Villegas, Karel Šonka, Rosa Peraita‐Adrados, Raphael C. Heinzer, Aleksandra Wierzbicka, Birgit Högl, Mauro Manconi, Eva Feketeová, António Martins da Silva, Jitka Bušková, Claudio L. Bassetti, Lucie Barateau, Fabio Pizza, Elena Antelmi, Jari K. Gool, Rolf Fronczek, Carles Gaig, Ramin Khatami · 发表于：Nature and Science of Sleep · 年份：2022 · DOI：10.2147/nss.s359980 · 被引用次数：62 · 研究领域：Sleep and Wakefulness Research、Restless Legs Syndrome Research、Sleep and Work-Related Fatigue

Purpose: Narcolepsy type-1 (NT1) is a rare chronic neurological sleep disorder with excessive daytime sleepiness (EDS) as usual first and cataplexy as pathognomonic symptom. Shortening the NT1 diagnostic delay is the key to reduce disease burden and related low quality of life. Here we investigated the changes of diagnostic delay over the diagnostic years (1990-2018) and the factors associated with the delay in Europe. Patients and Methods: We analyzed 580 NT1 patients (male: 325, female: 255) from 12 European countries using the European Narcolepsy Network database. We combined machine learning and linear mixed-effect regression to identify factors associated with the delay. Results: The mean age at EDS onset and diagnosis of our patients was 20.9±11.8 (mean ± standard deviation) and 30.5±14.9 years old, respectively. Their mean and median diagnostic delay was 9.7±11.5 and 5.3 (interquartile range: 1.7-13.2 years) years, respectively. We did not find significant differences in the diagnostic delay over years in either the whole dataset or in individual countries, although the delay showed significant differences in various countries. The number of patients with short (≤2-year) and long (≥13-year) diagnostic delay equally increased over decades, suggesting that subgroups of NT1 patients with variable disease progression may co-exist. Younger age at cataplexy onset, longer interval between EDS and cataplexy onsets, lower cataplexy frequency, shorter duration of irresistible da...