Pediatric Sleep Center, National Reference Network for Orphan Diseases-Narcolepsy and Idiopathic Hypersomnia, CHU Robert-Debrée, Paris VII University, Paris, France.
Sleep. 2012 May 1;35(5):709-11. doi: 10.5665/sleep.1836.
Narcolepsy with cataplexy is a sleep disorder characterized by excessive daytime sleepiness, irresistible sleep episodes, and sudden loss of muscle tone (cataplexy) mostly triggered by emotions. Narcolepsy with cataplexy is a disabling lifelong disorder frequently arising during childhood. Pediatric narcolepsy often results in severe learning and social impairment. Improving awareness about this condition increases early diagnosis and may allow patients to rapidly access adequate treatments, including pharmacotherapy and/or non-medication-based approaches. Even though children currently undergo pharmacotherapy, data about safety and efficacy in the pediatric population are scarce. Lacking international guidelines as well as drugs registered for childhood narcolepsy with cataplexy, physicians have no other alternative but to prescribe in an off-label manner medications identical to those recommended for adults. We retrospectively evaluated 27 children ranging from 6 to 16 years old, suffering from narcolepsy with cataplexy, who had been treated with off-label sodium oxybate and had been followed in a clinical setting. Throughout a semi-structured interview, we documented the good efficacy and tolerability of sodium oxybate in the majority of the patients. This study constitutes a preliminary step towards a further randomized controlled trial in childhood narcolepsy with cataplexy.
猝倒性睡眠发作伴嗜睡症是一种睡眠障碍，其特征是白天过度嗜睡、不可抗拒的睡眠发作和肌肉张力突然丧失（猝倒），主要由情绪引发。猝倒性睡眠发作伴嗜睡症是一种使人丧失能力的终身障碍，常发生在儿童时期。小儿猝倒性睡眠发作常导致严重的学习和社交障碍。提高对这种疾病的认识可以促进早期诊断，并使患者能够迅速获得适当的治疗，包括药物治疗和/或非药物治疗方法。尽管儿童目前接受药物治疗，但儿科人群中关于安全性和疗效的数据仍然很少。由于缺乏国际指南以及注册用于儿童猝倒性睡眠发作伴嗜睡症的药物，医生除了以标签外的方式开与成人推荐的相同药物外别无选择。我们回顾性评估了 27 名年龄在 6 至 16 岁之间的患有猝倒性睡眠发作伴嗜睡症的儿童，他们接受了标签外的羟丁酸钠治疗，并在临床环境中进行了随访。通过半结构化访谈，我们记录了大多数患者中羟丁酸钠的良好疗效和耐受性。这项研究是在儿童猝倒性睡眠发作伴嗜睡症中进行进一步随机对照试验的初步步骤。
