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Delayed diagnosis of narcolepsy: Characterization and impact

机译:发作性睡病的延迟诊断:表征和影响

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摘要

Narcolepsy, a chronic neurologic condition resulting from dysregulation of the sleep-wake cycle, usually has an onset at an early age. However, a long delay until diagnosis has been consistently reported in the literature across countries and several publications have focused on characterizing this delay. Most studies report a mean delay to diagnosis of up to 15. years, with individual cases of >60. years, although a trend over time toward a shorter diagnostic delay has been suggested. While variables associated with this delay have been identified, a lack of symptom recognition resulting in misdiagnosis prior to reaching the narcolepsy diagnosis is the likely underlying reason. This lack of symptom recognition is especially relevant considering the high comorbidity burden that has been shown in patients with narcolepsy as some disorders manifest with symptoms that overlap with narcolepsy. A consequence of delayed diagnosis is delayed treatment, which affects the burden of disease. Substantial detrimental effects on health-care resource utilization, employment, and quality of life have been described after narcolepsy onset and prior to the diagnosis of narcolepsy. This review highlights the importance of closing the diagnostic gap by expanding awareness of narcolepsy and its symptoms.
机译:发作性睡病是由睡眠-觉醒周期失调引起的一种慢性神经系统疾病,通常在幼年就发作。然而,在各国的文献中一致地报告了诊断之前,存在很长的延迟,并且一些出版物集中于表征这种延迟。大多数研究报告平均诊断延迟最多15年,个别病例> 60。几年以来,尽管有人提出随着时间的推移会缩短诊断延迟的趋势。虽然已经确定了与此延迟相关的变量,但症状的缺乏认识可能导致发作性睡病诊断之前的误诊。考虑到发作性睡病患者表现出高合并症负担,因为某些疾病表现出与发作性睡病重叠的症状,因此缺乏症状识别尤其重要。延迟诊断的结果是延迟治疗,这会影响疾病负担。在发作性睡病发作后和发作性睡病诊断之前,已经描述了对医疗资源利用,就业和生活质量的重大不利影响。这篇综述强调了通过扩大对发作性睡病及其症状的认识来缩小诊断差距的重要性。

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