Mațotă Ana-Maria, Bordeianu Andrei, Severin Emilia, Jidovu Alexandra
Department of Genetics, Carol Davila University of Medicine and Pharmacy, 020027 Bucharest, Romania;
NeuroSci. 2023 Oct 12;4(4):263-279. doi: 10.3390/neurosci4040022. eCollection 2023 Dec.
Narcolepsy is a chronic sleep disorder that disrupts the regulation of a person's sleep-wake cycle, leading to significant challenges in daily functioning. It is characterized by excessive daytime sleepiness, sudden muscle weakness (cataplexy), sleep paralysis, and vivid hypnagogic hallucinations. A literature search was conducted in different databases to identify relevant studies on various aspects of narcolepsy. The main search terms included "narcolepsy", "excessive daytime sleepiness", "cataplexy", and related terms. The search was limited to studies published until May 2023. This literature review aims to provide an overview of narcolepsy, encompassing its causes, diagnosis, treatment options, impact on individuals' lives, prevalence, and recommendations for future research. The review reveals several important findings regarding narcolepsy: 1. the classification of narcolepsy-type 1 narcolepsy, previously known as narcolepsy with cataplexy, and type 2 narcolepsy, also referred to as narcolepsy without cataplexy; 2. the genetic component of narcolepsy and the complex nature of the disorder, which is characterized by excessive daytime sleepiness, disrupted sleep patterns, and potential impacts on daily life activities and social functioning; and 3. the important implications for clinical practice in the management of narcolepsy. Healthcare professionals should be aware of the different types of narcolepsies and their associated symptoms, as this can aid in accurate diagnosis and treatment planning. The review underscores the need for a multidisciplinary approach to narcolepsy management, involving specialists in sleep medicine, neurology, psychiatry, and psychology. Clinicians should consider the impact of narcolepsy on a person's daily life, including their ability to work, study, and participate in social activities, and provide appropriate support and interventions. There are several gaps in knowledge regarding narcolepsy. Future research should focus on further elucidating the genetic causes and epigenetic mechanisms of narcolepsy and exploring potential biomarkers for early detection and diagnosis. Long-term studies assessing the effectiveness of different treatment approaches, including pharmacological interventions and behavioral therapies, are needed. Additionally, there is a need for research on strategies to improve the overall well-being and quality of life of individuals living with narcolepsy, including the development of tailored support programs and interventions.
发作性睡病是一种慢性睡眠障碍,会扰乱人的睡眠-觉醒周期调节,给日常功能带来重大挑战。其特征为日间过度嗜睡、突发肌肉无力(猝倒症)、睡眠瘫痪和生动的入睡幻觉。在不同数据库中进行了文献检索,以识别关于发作性睡病各方面的相关研究。主要检索词包括“发作性睡病”“日间过度嗜睡”“猝倒症”及相关词汇。检索限于截至2023年5月发表的研究。本综述旨在概述发作性睡病,涵盖其病因、诊断、治疗选择、对个人生活的影响、患病率以及对未来研究的建议。该综述揭示了关于发作性睡病的几个重要发现:1. 发作性睡病的分类——1型发作性睡病,以前称为伴猝倒症的发作性睡病,以及2型发作性睡病,也称为不伴猝倒症的发作性睡病;2. 发作性睡病的遗传成分以及该疾病的复杂性,其特征为日间过度嗜睡、睡眠模式紊乱以及对日常生活活动和社会功能的潜在影响;3. 发作性睡病管理对临床实践的重要意义。医疗保健专业人员应了解不同类型的发作性睡病及其相关症状,因为这有助于准确诊断和治疗规划。该综述强调了对发作性睡病管理采用多学科方法的必要性,涉及睡眠医学、神经病学、精神病学和心理学方面专家。临床医生应考虑发作性睡病对一个人日常生活的影响,包括其工作、学习和参与社交活动的能力,并提供适当支持和干预措施。关于发作性睡病存在一些知识空白。未来研究应专注于进一步阐明发作性睡病的遗传病因和表观遗传机制,并探索早期检测和诊断的潜在生物标志物。需要进行长期研究以评估不同治疗方法(包括药物干预和行为疗法)的有效性。此外,需要研究改善发作性睡病患者整体幸福感和生活质量的策略,包括制定量身定制的支持计划和干预措施。