Leschziner Guy D, Golding John F, Ferner Rosalie E
Department of Neurology and Neurofibromatosis Centre, Guy's and St. Thomas' NHS Foundation Trust, London, UK.
Am J Med Genet A. 2013 Jun;161A(6):1319-22. doi: 10.1002/ajmg.a.35915. Epub 2013 May 1.
Neurofibromatosis type 1 (NF1) is an autosomal dominant condition with a wide array of neurological complications, including cognitive dysfunction, tumors, malformations, neuropathy, neurovascular disease, and epilepsy. Many of these complications may impact on sleep quality and cause sleep disturbance. Previously sleep disturbance in NF1 has been specifically addressed solely in children. We performed a prospective study of sleep quality in 114 consecutive out-patients with NF1 attending our national neurofibromatosis service. The Epworth sleepiness scale (ESS) and the Pittsburgh sleep quality index (PSQI) were administered, and information was obtained from patient records on drugs potentially impacting on sleep, complications directly affecting sleep and employment status. The mean ESS was 6.8, and 21% had an abnormally high ESS of 10 or more. The mean global PSQI score was 8.4 (norm mean 2.67), with abnormally high scores in all sleep domains. Thirty-nine patients had a bed partner and 54% reported features suggestive of periodic limb movements of sleep, 43% had features suggestive of obstructive sleep apnoea, and 10.8% experienced confusion on waking. There was no evidence of phase shift. The ESS did not correlate with the PSQI, but unemployment status was associated with worse global PSQI score and multiple domain sub-scales of sleep quality in the PSQI. We conclude that sleep disturbance and poor sleep quality are significantly more frequent in the adult NF1 patient population. It is likely to be multi-factorial, related to pain, anxiety, depression, cognitive issues, and organic sleep pathology. We recommend careful assessment of patients to determine underlying triggers and possible treatment strategies.
1型神经纤维瘤病（NF1）是一种常染色体显性疾病，伴有一系列广泛的神经系统并发症，包括认知功能障碍、肿瘤、畸形、神经病变、神经血管疾病和癫痫。其中许多并发症可能会影响睡眠质量并导致睡眠障碍。此前，NF1患者的睡眠障碍仅在儿童中得到过专门研究。我们对连续114名在我国神经纤维瘤病诊疗中心就诊的NF1门诊患者的睡眠质量进行了一项前瞻性研究。采用了爱泼华嗜睡量表（ESS）和匹兹堡睡眠质量指数（PSQI），并从患者病历中获取了可能影响睡眠的药物、直接影响睡眠的并发症以及就业状况等信息。ESS的平均分为6.8，21%的患者ESS异常高，达到10分或更高。PSQI的总体平均得分为8.4（正常平均分为2.67），所有睡眠领域的得分均异常高。39名患者有同床伴侣；54%的患者报告有提示睡眠周期性肢体运动的特征，43%的患者有提示阻塞性睡眠呼吸暂停的特征，10.8%的患者醒来时出现意识模糊。没有证据表明存在相位偏移。ESS与PSQI无相关性，但失业状态与PSQI中更差的总体得分以及睡眠质量的多个领域子量表相关。我们得出结论，成年NF1患者群体中睡眠障碍和睡眠质量差的情况明显更为常见。这可能是多因素导致的，与疼痛、焦虑、抑郁、认知问题和器质性睡眠病理有关。我们建议对患者进行仔细评估，以确定潜在的触发因素和可能的治疗策略。
