Institute for Cellular and Integrative Neurosciences, CNRS UPR 3212 & Strasbourg University, 8 Allée du Général Rouvillois, 67000, Strasbourg, France.
CIRCSom (International Research Center for ChronoSomnology) & Sleep Disorders Center, Strasbourg University Hospital, 1 place de l'hôpital, 67000, Strasbourg, France.
Sci Rep. 2022 May 30;12(1):9018. doi: 10.1038/s41598-022-13041-3.
Idiopathic hypersomnia (IH), characterized by an excessive day-time sleepiness, a prolonged total sleep time on 24 h and/or a reduced sleep latency, affects 1 in 2000 individuals from the general population. However, IH remains underdiagnosed and inaccurately treated despite colossal social, professional and personal impacts. The pathogenesis of IH is poorly known, but recent works have suggested possible alterations of phototransduction. In this context, to identify biomarkers of IH, we studied the Post-Illumination Pupil Response (PIPR) using a specific pupillometry protocol reflecting the melanopsin-mediated pupil response in IH patients with prolonged total sleep time (TST > 660 min) and in healthy subjects. Twenty-eight patients with IH (women 86%, 25.4 year-old ± 4.9) and 29 controls (women 52%, 27.1 year-old ± 3.9) were included. After correction on baseline pupil diameter, the PIPR was compared between groups and correlated to sociodemographic and sleep parameters. We found that patients with IH had a lower relative PIPR compared to controls (32.6 ± 9.9% vs 38.5 ± 10.2%, p = 0.037) suggesting a reduced melanopsin response. In addition, the PIPR was not correlated to age, chronotype, TST, nor depressive symptoms. The melanopsin-specific PIPR may be an innovative trait marker of IH and the pupillometry might be a promising tool to better characterize hypersomnia.
特发性嗜睡症（idiopathic hypersomnia，IH）的特征是日间过度嗜睡、24 小时总睡眠时间延长和/或睡眠潜伏期缩短，每 2000 名普通人群中就有 1 人受到影响。然而，尽管 IH 对社会、职业和个人有巨大影响，但仍未得到充分诊断和准确治疗。IH 的发病机制尚不清楚，但最近的研究表明光转导可能发生改变。在这种情况下，为了确定 IH 的生物标志物，我们使用特定的瞳孔测量法方案研究了光照后瞳孔反应（Post-Illumination Pupil Response，PIPR），该方案反映了具有延长总睡眠时间（TST>660 分钟）的 IH 患者和健康受试者的黑视素介导的瞳孔反应。我们纳入了 28 名 IH 患者（女性 86%，25.4 岁±4.9）和 29 名对照者（女性 52%，27.1 岁±3.9）。在对基础瞳孔直径进行校正后，我们比较了两组之间的 PIPR，并将其与社会人口统计学和睡眠参数相关联。我们发现，与对照组相比，IH 患者的相对 PIPR 较低（32.6±9.9%比 38.5±10.2%，p=0.037），表明黑视素反应降低。此外，PIPR 与年龄、昼夜类型、TST 或抑郁症状均无相关性。黑视素特异性 PIPR 可能是 IH 的一种创新的特征性生物标志物，而瞳孔测量法可能是更好地描述嗜睡症的有前途的工具。
