PDF(Pubmed)
Abstract：
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■1型发作性睡病（NT1）是一种罕见的慢性神经系统睡眠障碍，首先表现为白天过度嗜睡（EDS），而猝倒则是病理性症状。缩短NT1诊断延迟是减少疾病负担和相关生活质量低下的关键。在这里，我们调查了欧洲诊断年度（1990-2018）诊断延迟的变化以及与延迟相关的因素。
■我们使用欧洲发作性睡病网络数据库分析了来自12个欧洲国家的580例NT1患者（男性：325例，女性：255例）。我们结合机器学习和线性混合效应回归来识别与延迟相关的因素。
■我们患者的EDS发病和诊断平均年龄为20.9±11.8（平均值±标准差）和30.5±14.9岁，分别。他们的平均和中位数诊断延迟为9.7±11.5和5.3年（四分位距：1.7-13.2年），分别。我们没有发现在整个数据集或个别国家的诊断延迟多年的显着差异，尽管延迟在各个国家/地区显示出重大差异。短（≤2年）和长（≥13年）诊断延迟的患者数量在几十年内同样增加。提示具有可变疾病进展的NT1患者亚组可能共存.猝倒发作时年龄较小，EDS和猝倒发作之间的间隔较长，较低的猝倒频率，不可抗拒的白天睡眠持续时间较短，白天REM睡眠倾向较低，女性与更长的诊断延迟有关。
■我们的发现与以前的研究报告的结果形成了对比，这些研究报告的延迟随着时间的推移而缩短，因为他们描述了症状发作年份诊断延迟的变化。我们的研究表明，需要新的策略，如增加媒体的注意力/意识和开发新的生物标志物，以更好地检测EDS。猝倒,嗜睡症中夜间睡眠的变化，以缩短诊断间隔。
■我们使用欧洲发作性睡病网络数据库分析了来自12个欧洲国家的580例NT1患者（男性：325例，女性：255例）。我们结合机器学习和线性混合效应回归来识别与延迟相关的因素。
■我们患者的EDS发病和诊断平均年龄为20.9±11.8（平均值±标准差）和30.5±14.9岁，分别。他们的平均和中位数诊断延迟为9.7±11.5和5.3年（四分位距：1.7-13.2年），分别。我们没有发现在整个数据集或个别国家的诊断延迟多年的显着差异，尽管延迟在各个国家/地区显示出重大差异。短（≤2年）和长（≥13年）诊断延迟的患者数量在几十年内同样增加。提示具有可变疾病进展的NT1患者亚组可能共存.猝倒发作时年龄较小，EDS和猝倒发作之间的间隔较长，较低的猝倒频率，不可抗拒的白天睡眠持续时间较短，白天REM睡眠倾向较低，女性与更长的诊断延迟有关。
■我们的发现与以前的研究报告的结果形成了对比，这些研究报告的延迟随着时间的推移而缩短，因为他们描述了症状发作年份诊断延迟的变化。我们的研究表明，需要新的策略，如增加媒体的注意力/意识和开发新的生物标志物，以更好地检测EDS。猝倒,嗜睡症中夜间睡眠的变化，以缩短诊断间隔。
