39例发作性睡病患儿的临床特征

Clinical and sleep EEG monitoring characteristics and long-term follow-up study on narcolepsy

目的 探讨儿童发作性睡病的临床特征、诊断方法及远期预后。方法 对 3 9例发作性睡病患儿进行睡眠脑电图监测 ,结合临床特点进行诊断 ,采用哌醋甲酯治疗 ,并进行远期随访。结果3 9例患儿均有过度或发作性的白天睡眠 ,3 5例有夜间睡眠紊乱 ,3 6例伴猝倒 ,9例伴睡眠瘫痪 ,19例出现睡眠幻觉 ,6例伴有自动症样行为。睡眠脑电图监测显示 3 8例平均睡眠潜伏期 <5min ,有 2次或 2次以上直接进入快速眼动相睡眠 ;1例睡眠周期正常。随访 2 3例 ,随访 1年以上者 17例 ,其中 10例采用哌醋甲酯治疗 ,7例白天的过度睡眠得到改善 ,未发现明显副作用 ;大多数患儿出现了不同程度的社会心理和学习问题。结论 发作性睡病是一慢性神经系统疾病 ,伴随终生 ,应根据其典型的临床表现及睡眠脑电监测结果作出早期诊断 ,对患儿应予长期的治疗 ,并加强对患儿的管理和教育 。

Objective Narcolepsy is a sleep disorder characterized by excessive daytime sleepiness, cataplexy, hypnagogic hallucination and sleep paralysis, with abnormal characteristics of shorter rapid eye movement (REM) sleep latency. The management of the patients is very important. The present study focused on the clinical characteristics, diagnostic methods and long-term prognosis of this particular syndrome. Methods The clinical data of 39 narcoleptic children were analyzed. Sleep EEG monitoring was performed in all patients. Among the 39 cases, 23 were followed up. Results All the patients manifested with excessive daytime sleepiness, with disrupted nocturnal sleep occurring in 35 cases. Cataplexy appeared in 36 cases, and sleep paralysis in 9, hypnagogic hallucination in 19, and automatic behavior in 6 cases, respectively. Sleep EEG monitoring demonstrated a short mean sleep latency (<5 minutes) and two or more sleep onset REM periods ( SOREMPs) in 38 cases. Twenty-three of the 39 cases were followed-up. Seventeen cases were followed-up for over one year. The longest follow-up duration was 14 years. Methylphenidate was administered in 10 cases. The excessive daytime sleepiness had been improved in 7 cases (70%). No obvious adverse effects were found. Psychosocial and academic problems appeared in most cases. Conclusion Narcolepsy is a chronic neurological disorder. A definite diagnosis is established when the symptoms of cataplexy and excessive daytime sleepiness occur in association with the characteristic findings on sleep EEG monitoring. Appropriate drug therapy and psychosocial management are of help for such patients. Stimulant medication is an important component of the overall treatment program. A comprehensive approach is necessary to meet the needs of children with narcolepsy. Family education and emotional support are key elements in the management plan. The overall goal for managing childhood narcolepsy is to assist the child and family in achieving optimal quality of life.