Department of Psychology, University of Utah, Salt Lake City, UT.
Department of Neurology, University of California San Francisco, San Francisco, CA.
Sleep. 2019 Oct 9;42(10). doi: 10.1093/sleep/zsz148.
Report the first prevalence estimates of advanced sleep phase (ASP), familial advanced sleep phase (FASP), and advanced sleep-wake phase disorder (ASWPD). This can guide clinicians on the utility of screening for extreme chronotypes both for clinical decision-making and to flag prospective participants in the study of the genetics and biology of FASP.
Data on morning or evening sleep schedule preference (chronotype) were collected from 2422 new patients presenting to a North American sleep center over 9.8 years. FASP was determined using a severity criterion that has previously identified dominant circadian mutations in humans. All patients were personally seen and evaluated by one of the authors (C.R.J.).
Our results demonstrate an ASP prevalence of 0.33%, an FASP prevalence of 0.21%, and an ASWPD prevalence of at least 0.04%. Most cases of young-onset ASP were familial.
Among patients presenting to a sleep clinic, conservatively 1 out of every 300 patients will have ASP, 1 out of every 475 will have FASP, and 1 out of every 2500 will have ASWPD. This supports obtaining a routine circadian history and, for those with extreme chronotypes, obtaining a family history of circadian preference. This can optimize treatment for evening sleepiness and early morning awakening and lead to additional circadian gene discovery. We hope these findings will lead to improved treatment options for a wide range of sleep and medical disorders in the future.
报告睡眠相位提前（ASP）、家族性睡眠相位提前（FASP）和睡眠-觉醒时相提前障碍（ASWPD）的首次流行率估计。这可以指导临床医生筛查极端昼夜节律类型的实用性，既用于临床决策，也可以为 FASP 的遗传学和生物学研究中的前瞻性参与者提供标记。
在 9.8 年期间，从 2422 名新就诊于北美睡眠中心的患者中收集了关于早晨或晚上睡眠时间表偏好（昼夜节律类型）的数据。使用先前在人类中确定显性生物钟突变的严重程度标准来确定 FASP。所有患者均由作者之一（C.R.J.）亲自就诊和评估。
我们的结果表明，ASP 的患病率为 0.33%，FASP 的患病率为 0.21%，ASWPD 的患病率至少为 0.04%。大多数早发性 ASP 病例是家族性的。
在就诊于睡眠诊所的患者中，保守估计每 300 名患者中就有 1 名患有 ASP，每 475 名患者中就有 1 名患有 FASP，每 2500 名患者中就有 1 名患有 ASWPD。这支持获取常规昼夜节律史，对于那些昼夜节律类型极端的患者，获取家族昼夜节律偏好史。这可以优化对傍晚嗜睡和清晨早醒的治疗，并导致额外的昼夜节律基因发现。我们希望这些发现将为未来广泛的睡眠和医学障碍带来更好的治疗选择。
