Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy.
Department of Pediatrics, Sleep Medicine, Robert C. Byrd Health Sciences Center, West Virginia University, Morgantown, WestVirginia.
Pediatr Neurol. 2018 Aug;85:21-32. doi: 10.1016/j.pediatrneurol.2018.06.008. Epub 2018 Jun 30.
Narcolepsy is a chronic and lifelong neurologic disorder with onset commonly occurring in childhood or adolescence, and affecting approximately 0.025% to 0.05% of the general population. The primary symptom is excessive daytime sleepiness, which is accompanied by cataplexy in 70% of patients. Other common symptoms include sleep paralysis, hallucinations upon falling asleep or waking, and disrupted nocturnal sleep. Narcolepsy is associated with a considerable burden of illness (BOI), which has been well characterized in adults, and is exacerbated by delays in symptom recognition, diagnosis, and intervention.
This review describes the specific characteristics and BOI of pediatric narcolepsy, using a wide range of published research data.
Pediatric narcolepsy presents distinct challenges in diagnosis and management. Narcolepsy symptoms often initially manifest differently in children and adolescents versus adults, which may pose diagnostic dilemmas. Children often respond to sleepiness with irritability, hyperactivity, and poor attention, which may be misinterpreted as misbehavior or neurocognitive sequelae of other conditions. Pediatric cataplexy symptoms may include subtle and unusual facial expressions or choreic-like movements, which are not observed in adults. Insufficient sleep and circadian rhythm disorders presenting with excessive daytime sleepiness are common in adolescents, potentially confounding narcolepsy diagnosis. Pediatric narcolepsy is also associated with comorbidities including rapid weight gain, precocious puberty, and attention deficit hyperactivity disorder, and increased risk for deficits in social functioning, depression, and anxiety. School performance is also typically impaired, requiring special education services.
Thus, the discrete BOI of pediatric narcolepsy underscores the need for prompt and accurate diagnosis, and appropriate treatment of this disorder.
发作于儿童或青少年期的嗜睡症是一种慢性、终身性的神经系统疾病，影响大约 0.025%至 0.05%的普通人群。主要症状是日间过度嗜睡，70%的患者伴有猝倒。其他常见症状包括睡眠瘫痪、入睡或醒来时出现幻觉、以及夜间睡眠紊乱。嗜睡症与相当大的疾病负担（BOI）相关，其在成年患者中已得到充分描述，且因症状识别、诊断和干预的延迟而加重。
本综述使用大量已发表的研究数据，描述了儿童嗜睡症的特定特征和 BOI。
儿童嗜睡症的诊断和管理存在独特的挑战。嗜睡症的症状在儿童和青少年与成年人中的表现最初通常不同，这可能导致诊断上的困境。儿童往往会以烦躁、多动和注意力不集中来应对嗜睡，这可能被误解为行为不当或其他疾病的神经认知后遗症。儿童猝倒的症状可能包括微妙和不寻常的面部表情或舞蹈样运动，而这些在成年人中观察不到。青少年中常见的因睡眠不足和昼夜节律紊乱而出现的日间过度嗜睡，可能会混淆嗜睡症的诊断。儿童嗜睡症还与共病相关，包括体重快速增加、性早熟和注意缺陷多动障碍，以及社会功能、抑郁和焦虑缺陷的风险增加。学业表现也通常受到影响，需要特殊教育服务。
因此，儿童嗜睡症的独特 BOI 凸显了及时准确诊断和适当治疗该疾病的必要性。
