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

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Version: author
License: CC BY-NC 4.0
Serval ID
serval:BIB_6EFF9155E8A8
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Idling for Decades: A European Study on Risk Factors Associated with the Delay Before a Narcolepsy Diagnosis.
Journal
Nature and science of sleep
Author(s)
Zhang Z., Dauvilliers Y., Plazzi G., Mayer G., Lammers G.J., Santamaria J., Partinen M., Overeem S., Del Rio Villegas R., Sonka K., Peraita-Adrados R., Heinzer R., Wierzbicka A., Högl B., Manconi M., Feketeova E., da Silva A.M., Bušková J., Bassetti CLA, Barateau L., Pizza F., Antelmi E., Gool J.K., Fronczek R., Gaig C., Khatami R.
ISSN
1179-1608 (Print)
ISSN-L
1179-1608
Publication state
Published
Issued date
2022
Peer-reviewed
Oui
Volume
14
Pages
1031-1047
Language
english
Notes
Publication types: Journal Article
Publication Status: epublish
Abstract
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.
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.
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 daytime sleep, lower daytime REM sleep propensity, and being female are associated with longer diagnostic delay.
Our findings contrast the results of previous studies reporting shorter delay over time which is confounded by calendar year, because they characterized the changes in diagnostic delay over the symptom onset year. Our study indicates that new strategies such as increasing media attention/awareness and developing new biomarkers are needed to better detect EDS, cataplexy, and changes of nocturnal sleep in narcolepsy, in order to shorten the diagnostic interval.
Keywords
cataplexy, diagnostic delay, machine learning, misdiagnosis, symptom onset
Pubmed
Web of science
Open Access
Yes
Create date
24/06/2022 18:04
Last modification date
23/11/2022 7:50
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