Danish Center for Sleep Medicine, Copenhagen University Hospital - Rigshospitalet, Glostrup, Denmark.
Department of Neuroscience, University of Copenhagen, Denmark.
Sleep Med. 2023 Oct;110:91-98. doi: 10.1016/j.sleep.2023.07.029. Epub 2023 Jul 29.
The diagnosis of narcolepsy is based on clinical information, combined with polysomnography (PSG) and the Multiple Sleep Latency Test (MSLT). PSG and the MSLT are moderately reliable at diagnosing narcolepsy type 1 (NT1) but unreliable for diagnosing narcolepsy type 2 (NT2). This is a problem, especially given the increased risk of a false-positive MSLT in the context of circadian misalignment or sleep deprivation, both of which commonly occur in the general population.
We aimed to clarify the accuracy of PSG/MSLT testing in diagnosing NT1 versus controls without sleep disorders. Repeatability and reliability of PSG/MSLT testing and temporal changes in clinical findings of patients with NT1 versus patients with hypersomnolence with normal hypocretin-1 were compared.
84 patients with NT1 and 100 patients with non-NT1-hypersomnolence disorders, all with congruent cerebrospinal fluid hypocretin-1 (CSF-hcrt-1) levels, were included. Twenty-five of the 84 NT1 patients and all the hypersomnolence disorder patients underwent a follow-up evaluation consisting of clinical assessment, PSG, and a modified MSLT. An additional 68 controls with no sleep disorders were assessed at baseline.
Confirming results from previous studies, we found that PSG and our modified MSLT accurately and reliably diagnosed hypocretin-deficient NT1 (accuracy = 0.88, reliability = 0.80). Patients with NT1 had stable clinical and electrophysiological presentations over time that suggested a stable phenotype. In contrast, the PSG/MSLT results of patients with hypersomnolence, and normal CSF-hcrt-1 had poor reliability (0.32) and low repeatability.
发作性睡病的诊断基于临床信息，结合多导睡眠图（PSG）和多次睡眠潜伏期试验（MSLT）。PSG 和 MSLT 对诊断 1 型发作性睡病（NT1）具有中等可靠性，但对诊断 2 型发作性睡病（NT2）不可靠。这是一个问题，尤其是在昼夜节律失调或睡眠剥夺的情况下，MSLT 出现假阳性的风险增加，而这两种情况在普通人群中都很常见。
我们旨在阐明 PSG/MSLT 检测在诊断无睡眠障碍的 NT1 与对照中的准确性。比较了 NT1 患者与具有正常食欲素-1 的过度嗜睡患者的 PSG/MSLT 检测的重复性和可靠性，以及 NT1 患者的临床发现的时间变化。
纳入 84 例 NT1 患者和 100 例非 NT1-过度嗜睡障碍患者，所有患者的脑脊液食欲素-1（CSF-hcrt-1）水平均相符。84 例 NT1 患者中有 25 例和所有过度嗜睡障碍患者均接受了随访评估，包括临床评估、PSG 和改良 MSLT。另外 68 例无睡眠障碍的对照者在基线时进行了评估。
证实了先前研究的结果，我们发现 PSG 和我们的改良 MSLT 准确可靠地诊断出食欲素缺乏的 NT1（准确性=0.88，可靠性=0.80）。随着时间的推移，NT1 患者的临床和电生理表现稳定，表明表型稳定。相比之下，具有正常 CSF-hcrt-1 的过度嗜睡患者的 PSG/MSLT 结果可靠性差（0.32），重复性低。
