Hagebeuk Eveline E O, Bijlmer Rob P G M, Koelman Johannes H T M, Poll-The Bwee Tien
Department of Pediatric Neurology AMC, Amsterdam, The Netherlands.
J Child Neurol. 2012 Jul;27(7):888-92. doi: 10.1177/0883073811429859. Epub 2012 Jan 30.
Rett syndrome is characterized by loss of motor and social functions, development of stereotypic hand movements, seizures, and breathing disturbances. This study evaluates the presence of overnight respiratory disturbances. Polysomnography in combination with a questionnaire (the Sleep Disturbance Scale for Children) was performed in 12 Dutch patients with Rett. Respiratory disturbances were present in all, clinically relevant in 10 (apnea hypopnea per hour 1.0-14.5). In 8 children, central apneas were present during the day often with obstructive apneas at night. In 6, obstructive sleep apnea syndrome was diagnosed, in 3 severe, with frequent oxygen desaturations. Significant respiratory complaints were present in 3 patients, all had obstructive sleep apnea syndrome. Of the 12 patients with Rett, 8 (67%) snored, and in 5 obstructive sleep apnea syndrome was present. In children, hypertrophied tonsils and adenoids are a common cause of obstructive sleep apnea syndrome, which may benefit from therapeutic intervention. We recommend performing polysomnography in patients with Rett syndrome and respiratory complaints.
瑞特综合征的特征为运动和社交功能丧失、刻板手部动作的出现、癫痫发作及呼吸紊乱。本研究评估夜间呼吸紊乱的情况。对12名荷兰瑞特综合征患者进行了多导睡眠图检查并结合一份问卷（儿童睡眠障碍量表）。所有患者均存在呼吸紊乱，其中10例具有临床相关性（每小时呼吸暂停低通气指数为1.0 - 14.5）。8名儿童白天存在中枢性呼吸暂停，夜间常伴有阻塞性呼吸暂停。6例被诊断为阻塞性睡眠呼吸暂停综合征，3例为重度，伴有频繁的氧饱和度下降。3例患者有明显的呼吸主诉，均患有阻塞性睡眠呼吸暂停综合征。12例瑞特综合征患者中，8例（67%）打鼾，5例患有阻塞性睡眠呼吸暂停综合征。在儿童中，扁桃体和腺样体肥大是阻塞性睡眠呼吸暂停综合征的常见原因，可能从治疗干预中获益。我们建议对有呼吸主诉的瑞特综合征患者进行多导睡眠图检查。
