Julu P O, Kerr A M, Apartopoulos F, Al-Rawas S, Engerström I W, Engerström L, Jamal G A, Hansen S
Peripheral Nerve and Autonomic Unit, Department of Neurology, Imperial College of Science, Technology and Medicine, Central Middlesex Hospital, Acton Lane, London NW10 7NS, UK.
Arch Dis Child. 2001 Jul;85(1):29-37. doi: 10.1136/adc.85.1.29.
To investigate breathing rhythm and brain stem autonomic control in patients with Rett disorder.
Two university teaching hospitals in the United Kingdom and the Rett Centre, Sweden.
56 female patients with Rett disorder, aged 2-35 years; 11 controls aged 5-28 years.
One hour recordings of breathing movement, blood pressure, ECG R-R interval, heart rate, transcutaneous blood gases, cardiac vagal tone, and cardiac sensitivity to baroreflex measured on-line with synchronous EEG and video. Breathing rhythms were analysed in 47 cases.
Respiratory rhythm was normal during sleep and abnormal in the waking state. Forced and apneustic breathing were prominent among 5-10 year olds, and Valsalva breathing in the over 18 year olds, who were also most likely to breathe normally. Inadequate breathing peaked among 10-18 year olds. Inadequate and exaggerated breathing was associated with vacant spells. Resting cardiac vagal tone and cardiac sensitivity to baroreflex were reduced.
Labile respiratory rhythms and poor integrative inhibition in Rett disorder suggest brain immaturity. Linking this to an early monoaminergic defect suggests possible targets for the MECP2 gene in clinical intervention. Exaggerated and inadequate autonomic responses may contribute to sudden death.
研究雷特综合征患者的呼吸节律和脑干自主神经控制。
英国的两家大学教学医院以及瑞典的雷特综合征中心。
56例年龄在2至35岁的雷特综合征女性患者；11名年龄在5至28岁的对照者。
对呼吸运动、血压、心电图R-R间期、心率、经皮血气、心脏迷走神经张力以及心脏对压力反射的敏感性进行1小时记录，并同步记录脑电图和视频。对47例患者的呼吸节律进行了分析。
睡眠期间呼吸节律正常，清醒状态下异常。强迫呼吸和长吸式呼吸在5至10岁患者中较为突出，18岁以上患者则以瓦尔萨尔瓦呼吸为主，且这些患者也最有可能呼吸正常。呼吸不足在10至18岁患者中达到峰值。呼吸不足和过度呼吸与失神发作有关。静息时心脏迷走神经张力和心脏对压力反射的敏感性降低。
雷特综合征中不稳定的呼吸节律和整合抑制功能差提示大脑不成熟。将此与早期单胺能缺陷联系起来，提示MECP2基因在临床干预中的可能靶点。自主神经反应过度和不足可能导致猝死。
