Kerr A M
Monitoring Unit for Research into Learning Disability, University of Glasgow, UK.
Neuropediatrics. 1995 Apr;26(2):67-71. doi: 10.1055/s-2007-979725.
This review of the period from birth until the end of regression in classic Rett syndrome (RS) is based on personal experience of more than 600 cases over 12 years including video material on 42 cases showing behaviour before regression. A period of undoubted developmental progress followed by loss of skill is apt to persuade the physician that a fresh toxic or infective insult has afflicted a normal child but close scrutiny of classic Rett syndrome cases indicates that the cognitive and motor problems of the disorder are detectable from birth, that a developmental ceiling limits progress and that the timing and nature of the regression event and subsequent behaviour of the child indicate inherently defective central receptive processing with a highly specific profile. A model illustrates how the characteristic disturbances may express incompetent higher control. The robust mid infancy level skills of the Rett child and woman deserve careful analysis and offer potential for therapy. Metabolic and immune sequelae may occur as the developmental defect becomes manifest and such cascade events demand careful evaluation and offer further opportunities for intervention.
这篇关于经典瑞特综合征（RS）从出生到退化期结束的综述基于12年里600多例病例的个人经验，包括42例退化前行为的视频资料。一段无疑的发育进步期后技能丧失，这容易使医生认为是新的毒性或感染性损伤侵袭了正常儿童，但对经典瑞特综合征病例的仔细观察表明，该疾病的认知和运动问题在出生时就可检测到，发育上限限制了进步，退化事件的时间和性质以及儿童随后的行为表明存在内在缺陷的中枢感受处理，具有高度特异性特征。一个模型说明了特征性干扰如何表现出高级控制能力不足。瑞特儿童和女性婴儿中期强大的技能水平值得仔细分析，并提供了治疗潜力。随着发育缺陷显现，可能会出现代谢和免疫后遗症，这种级联事件需要仔细评估，并提供进一步的干预机会。
