From the Department of Biomedical and Neuromotor Sciences (DIBINEM) (F.P., S.V., E.A., G.P.), University of Bologna; IRCCS Istituto delle Scienze Neurologiche di Bologna (F.P., S.V., E.A., G.P.), Italy; National Reference Centre for Orphan Diseases, Narcolepsy, Rare Hypersomnias, Sleep Disorders Center, Department of Neurology (L.B., Y.D.), Gui de Chauliac Hospital, Montpellier; Inserm, U1061 (L.B., I.J., Y.D.), Montpellier; University of Montpellier (L.B., I.J., Y.D.), France; and Stanford University Center for Sleep Sciences, Department of Psychiatry and Behavioral Sciences (E.M.), Stanford University School of Medicine, Palo Alto, CA.
Neurology. 2019 Sep 10;93(11):e1034-e1044. doi: 10.1212/WNL.0000000000008094. Epub 2019 Aug 12.
To validate polysomnographic markers (sleep latency and sleep-onset REM periods [SOREMPs] at the Multiple Sleep Latency Test [MSLT] and nocturnal polysomnography [PSG]) for pediatric narcolepsy type 1 (NT1) against CSF hypocretin-1 (hcrt-1) deficiency and presence of cataplexy, as no criteria are currently validated in children.
Clinical, neurophysiologic, and, when available, biological data (HLA-DQB1*06:02 positivity, CSF hcrt-1 levels) of 357 consecutive children below 18 years of age evaluated for suspected narcolepsy were collected. Best MSLT cutoffs were obtained by receiver operating characteristic (ROC) curve analysis by contrasting among patients with available CSF hcrt-1 assay (n = 228) with vs without CSF hcrt-1 deficiency, and further validated in patients without available CSF hcrt-1 against cataplexy (n = 129).
Patients with CSF hcrt-1 deficiency were best recognized using a mean MSLT sleep latency ≤8.2 minutes (area under the ROC curve of 0.985), or by at least 2 SOREMPs at the MSLT (area under the ROC curve of 0.975), or the combined PSG + MSLT (area under the ROC curve of 0.977). Although specificity and sensitivity of referenc MSLT sleep latency ≤8 minutes and ≥2 SOREMPs (nocturnal SOREMP included) was 100% and 94.87%, the combination of MSLT sleep latency and SOREMP counts did not improve diagnostic accuracy. Age or sex also did not significantly influence these results in our pediatric population.
At least 2 SOREMPs or a mean sleep latency ≤8.2 minutes at the MSLT are valid and reliable markers for pediatric NT1 diagnosis, a result contrasting with adult NT1 criteria.
This study provides Class III evidence that for children with suspected narcolepsy, polysomnographic and MSLT markers accurately identify those with narcolepsy type 1.
针对小儿 1 型发作性睡病（NT1），验证多导睡眠潜伏期试验（MSLT）和夜间多导睡眠图（PSG）中的睡眠潜伏期和睡眠起始 REM 期（SOREMP）等睡眠多导图（PSG）标记物与脑脊液（CSF）下丘脑泌素-1（hcrt-1）缺乏和猝倒的相关性，因为目前尚无针对儿童的标准验证。
收集了 357 名连续就诊的 18 岁以下疑似发作性睡病患儿的临床、神经生理资料和（如有）生物资料（HLA-DQB1*06：02 阳性、CSF hcrt-1 水平）。通过对比有可用 CSF hcrt-1 检测结果的患者（n=228）与无 CSF hcrt-1 检测结果的患者，用受试者工作特征（ROC）曲线分析得出最佳 MSLT 截断值，并在无 CSF hcrt-1 但有猝倒的患者（n=129）中进一步验证。
CSF hcrt-1 缺乏的患者最佳识别方式为平均 MSLT 睡眠潜伏期≤8.2 分钟（ROC 曲线下面积为 0.985），或 MSLT 至少有 2 个 SOREMP（ROC 曲线下面积为 0.975），或 PSG+MSLT（ROC 曲线下面积为 0.977）。尽管参考 MSLT 睡眠潜伏期≤8 分钟和≥2 个 SOREMP（包括夜间 SOREMP）的特异性和敏感性均为 100%和 94.87%，但 MSLT 睡眠潜伏期和 SOREMP 计数的组合并未提高诊断准确性。年龄或性别在我们的儿科人群中也没有显著影响这些结果。
MSLT 中至少 2 个 SOREMP 或平均睡眠潜伏期≤8.2 分钟是小儿 NT1 诊断的有效且可靠的标志物，这一结果与成人 NT1 标准不同。
本研究提供 III 级证据表明，对于疑似发作性睡病的儿童，睡眠多导图（PSG）和 MSLT 标志物可准确识别 1 型发作性睡病。
