The European Narcolepsy Network (<scp>EU</scp>‐<scp>NN</scp>) database

Khatami, Ramin; Luca, Gianina; Baumann, Christian R.; Bassetti, C.; Bruni, Oliviero; Cañellas, Francesca; Dauvilliers, Yves; Rio-Villegas, Rafael del; Feketeová, Eva; Ferri, Raffaele; Geisler, Peter; Högl, Birgit; Jennum, Poul; Kornum, Birgitte Rahbek; Lecendreux, Michel; Silva, António Martins da; Mathis, Johannes; Mayer, Geert; Paiva, Teresa; Partinen, Markku; Peraita-Adrados, Rosa; Plazzi, G.; Santamaría, Joan; Šonka, Karel; Riha, Renata L.; Tafti, Mehdi; Wierzbicka, Aleksandra; Young, Peter; Lammers, Gert Jan; Overeem, Sebastiaan

doi:10.1111/jsr.12374

Cited by 52 publications

(40 citation statements)

References 22 publications

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“…In conclusion, delayed diagnosis of narcolepsy type 1 remains a major challenge, is highly common and associated with negative repercussions on many life aspects in affected patients. The accurate registration of all narcolepsy cases in specific databases and the establishment of distributed expert networks such as the European Narcolepsy Network are a first step in the right direction (Khatami et al ., ). However, additional educational efforts and strategies are clearly mandatory, approaching not only the medical community but also the general population, perhaps by developing specific educational modules that can be implemented at school level.…”

Section: Discussionmentioning

confidence: 97%

Diagnostic delay in narcolepsy type 1: combining the patients' and the doctors' perspectives

Taddei

Werth

Poryazova

et al. 2016

Journal of Sleep Research

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Narcolepsy type 1 is a neurological disorder characterized by a unique syndrome, including the pathognomonic symptom of cataplexy. The diagnosis can be confirmed by objective measures, such as typical findings in the multiple sleep latency test, reduced or undetectable levels of orexin (hypocretin) in the cerebrospinal fluid, and linkage to a specific HLA haplotype. Nevertheless, the mean time that elapses from symptom onset to the correct diagnosis ranges between 10 and 20 years, and the causes and correlates of this delay are poorly understood. Diagnostic delay was assessed on 52 well-defined patients with narcolepsy type 1, evaluating clinical, electrophysiological and neurochemical parameters and the results of a 41-item questionnaire developed to obtain the patients' perspective on various aspects of the diagnostic process. The mean time gap between disease onset and first medical consultation was 3.2 ± 5.1 years; the mean diagnostic delay was 8.9 ± 11.0 years. Prior to correct diagnosis, patients received a wide variety of misdiagnoses. The self-ratings of the patients revealed that the undiagnosed symptoms caused high levels of anxiety and unjustified criticism by family, friends and employers. Multiple regression analysis identified higher cerebrospinal fluid orexin levels ( = 0.311, P = 0.01), and a longer interval between the onset of excessive daytime sleepiness and cataplexy ( = 0.368, P = 0.002) as independent associates of longer diagnostic delay. The diagnostic delay decreased over the last decades ( = -0.672, P < 0.001). In conclusion, delayed diagnosis of narcolepsy type 1 is very common, associated with many adverse consequences, and requires educational efforts to improve awareness on narcolepsy among healthcare providers and the general population. linkage to a specific HLA haplotype. Nevertheless, the mean time that elapses from symptom onset to the correct diagnosis ranges between 10-20y, and the causes and correlates of this delay are poorly understood. We assessed diagnostic delay in on 52 well-defined patients with narcolepsy type 1, evaluating clinical, electrophysiological and neurochemical parameters and the results of a 41-item questionnaire developed to obtain the patients' perspective on various aspects of the diagnostic process. Mean time gap between disease onset and first medical consultation was 3.2±5.1y; the mean diagnostic delay was 8.9±11.0y.Prior to correct diagnosis, patients received a wide variety of misdiagnoses. The self-ratings of the patients revealed that the undiagnosed symptoms caused high levels of anxiety and unjustified criticism by family, friends and employers. Multiple regression analysis identified higher CSF orexin levels (β=0.311, p=0.01), and longer interval between onset of excessive daytime sleepiness and cataplexy (β=0.368, p=0.002) as independent associates of longer diagnostic delay. The diagnostic delay decreased over the last decades (β=-0.672, p<0.001).In conclusion, delayed diagnosis of narcolepsy type 1 is very common, associated with...

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Section: Discussionmentioning

confidence: 97%

Diagnostic delay in narcolepsy type 1: combining the patients' and the doctors' perspectives

Taddei

Werth

Poryazova

et al. 2016

Journal of Sleep Research

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“…Each center of EU-NN has obtained ethical approval for publishing the patients' data for scientific purpose by a national Institutional Review Board before entering patients (please refer to the section 'Data access policy, ethics and security specifications' of reference 13 ). The scientific review committee of EU-NN has approved the study protocol.…”

Section: Methodsmentioning

confidence: 99%

A new incidence peak of childhood narcolepsy type 1 in 2013: a new perspective on the role of influenza virus?

Zhang

Gool

Fronczek

et al. 2020

Preprint

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Increased incidence rates of narcolepsy type 1 (NT1) after the 2009-2010 H1N1 influenza pandemic (pH1N1) have been reported world-wide. While some European countries found an association between the NT1 increase and H1N1 vaccination Pandemrix, reports from Asian countries suggested the H1N1 virus rather than Pandemrix to be linked with the increase of new NT1 cases. We analyzed the number of de-novo NT1 cases in the last two decades until 2016 using the European Narcolepsy Network (EU-NN) database. Using robust data-driven modelling approaches we confirmed the peak of NT1 incidence in 2009-2010 pH1N1 and identified a new peak in 2013 that is age-specific for children/adolescents. Most of these de-novo cases showed a subacute disease onset consistent with an immune-mediated type of narcolepsy, which is most likely not related to Pandemrix vaccination that was used in 2009-2010, but may have been triggered by some new epidemiological event in Europe. Our finding of an unexpected peak in de-novo children narcolepsy in 2013 provides a unique opportunity to develop new hypotheses, such as considering other (influenza) viruses to further investigate the pathophysiology of immune-mediated narcolepsy.

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“…A late onset of cataplexy probably underlies the diagnostic delay of narcolepsy (10.4-0.8 years in men and 9.8-0.8 years in women). The diagnosis of NT1 presumes the knowledge of cataplexy and other facultative symptoms of narcolepsy like hypnagogic/hypnopompic hallucination and sleep paralysis [15].…”

Section: Definition and Epidemiologymentioning

confidence: 99%

Therapy for Cataplexy

Heidbreder

Dirks

Ramm

2020

Curr Treat Options Neurol

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Purpose of the review Cataplexy, an involuntary loss of muscle activity triggered by strong emotions is the most impressive symptom in narcolepsy. This review gives an overview of the current understanding of cataplexy and its available treatment options. Recent findings With the discovery of hypocretin/orexin, the understanding of the pathophysiology of cataplexy advanced in the past decades. In the recent years, with the development of new anticataplectic agents (e.g., Pitolisant) symptomatic treatment of cataplexy has further improved. Abrupt cessation of anticataplectic medication especially antidepressants increase the risk of status cataplecticus, a virtually continuous series of long-lasting cataplectic attacks. Summary Cataplexies still remain an under-recognized phenomenon due to missing diagnostic measures. Treatment for cataplexy still remains symptomatic but new agents with better tolerability and usability are continuously developed. New therapeutic actions either targeting the autoimmune mechanisms underlying orexin cell death or substituting orexin action are promising treatments for the near future.

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The European Narcolepsy Network (EU‐NN) database

Cited by 52 publications

References 22 publications

Diagnostic delay in narcolepsy type 1: combining the patients' and the doctors' perspectives

Diagnostic delay in narcolepsy type 1: combining the patients' and the doctors' perspectives

A new incidence peak of childhood narcolepsy type 1 in 2013: a new perspective on the role of influenza virus?

Therapy for Cataplexy

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