Kerr A, Southall D, Amos P, Cooper R, Samuels M, Mitchell J, Stephenson J
Department of Child Health, Royal Hospital for Sick Children, Yorkhill, Glasgow, Scotland, UK.
Brain Dev. 1990;12(1):61-8. doi: 10.1016/s0387-7604(12)80179-3.
Day time video records of 14 girls with the Rett syndrome (RS) (6-17, mean 7 years) were analysed to correlate episodic abnormalities in respiration, movement and electroencephalograms (EEG). Records were compared with those of 12 healthy girls (6-18, median 14 years) who hyperventilated voluntarily. Three RS girls (6-7 years) had minimal respiratory dysrhythmia and showed no correlation between EEG respiration and movement. The other 11 RS girls (6-17 years) had severe awake respiratory dysrhythmia; 10 showing hyperventilation (with hypocapnia) which alternated with active expiratory apnoeic pauses and one with the latter only. All had periods of awake regular breathing with normal respiratory gases. In these girls EEG showed non-epileptic generalised slow activity some of which was paroxysmal. In the six youngest (6-10 years) of these 11 RS girls, non-epileptic paroxysms of EEG slow activity at 1 1/2-4 Hz occurred and were associated with periods of normal breathing and normal pCO2 levels whether girls were alert, drowsy or asleep, but were uncommon during episodes of hyperventilation (and hypocapnia). In four of these girls the EEG paroxysms occupied less than or equal to 1-3% of the time during periods of respiratory dysrhythmia (81 minutes) and 8-100% of the time during alert periods with normal breathing (29 minutes), p less than or equal to 0.001 for this difference. Short bursts of EEG slowing occasionally followed prolonged apnoeic pauses. In two cases brief partial complex seizures occurred. In five of these girls stereotypic movements exacerbated during episodes of respiratory dysrhythmia and reduced during normal breathing.(ABSTRACT TRUNCATED AT 250 WORDS)
对14名患有雷特综合征（RS）的女孩（6 - 17岁，平均7岁）的日间视频记录进行分析，以关联呼吸、运动和脑电图（EEG）中的发作性异常。将这些记录与12名自愿进行过度换气的健康女孩（6 - 18岁，中位数14岁）的记录进行比较。3名RS女孩（6 - 7岁）呼吸节律不齐程度轻微，脑电图呼吸与运动之间无相关性。其他11名RS女孩（6 - 17岁）有严重的清醒期呼吸节律不齐；10名表现为过度换气（伴有低碳酸血症），与主动呼气暂停交替出现，1名仅表现为后者。所有人都有清醒期呼吸正常且呼吸气体正常的阶段。在这些女孩中，脑电图显示非癫痫性广泛性慢活动，其中一些是阵发性的。在这11名RS女孩中最年幼的6名（6 - 10岁），出现了1.5 - 4赫兹的脑电图慢活动非癫痫性发作，且无论女孩是清醒、困倦还是睡眠状态，均与呼吸正常且pCO2水平正常的阶段相关，但在过度换气（和低碳酸血症）发作期间不常见。在其中4名女孩中，脑电图发作在呼吸节律不齐阶段（81分钟）占总时间的比例小于或等于1 - 3%，而在呼吸正常的清醒阶段（29分钟）占总时间的8 - 100%，此差异p小于或等于0.001。长时间呼吸暂停后偶尔会出现短暂的脑电图减慢。有2例出现短暂的部分性复杂性发作。在其中5名女孩中，刻板运动在呼吸节律不齐发作时加剧，在呼吸正常时减轻。（摘要截断于250字）
