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1.
凯尔·SM、瓦希·N、贾斯蒂斯·MJ。雷特综合征：一种具有代谢成分的神经系统疾病。打开 Biol [互联网]。 2018 年 [引用于 2023 年 2 月 19 日]；8(2):170216。可从： https://royalsocietypublishing.org/doi/10.1098/rsob.170216
Rett 综合征是一种与 X 染色体（MECP2 基因）相关的神经发育障碍，通常会经历四个明确的临床阶段，标志着其发育轨迹：
- 第一阶段（早期发作 – 6 至 18 个月）： 发育轻微减慢，对玩耍失去兴趣，头部生长减慢。
- 第二阶段（快速破坏 - 1 至 4 年）： 语言和双手的自主使用能力迅速退化，出现特征性的手工刻板印象（洗手），清醒时易怒和呼吸系统疾病。
- 第三阶段（伪静止 – 2 至 10 年）： 运动症状的稳定。尽管目光接触（眼神交流）有所改善，但它突出显示了失用症、癫痫发作和进行性脊柱侧凸。
- 第四阶段（晚期运动障碍 - 10 岁以上）： 丧失活动能力或行走能力（如果存在）、僵硬、痉挛、肌肉萎缩和全身无力。认知和视觉交流功能通常在此阶段得以保留。