CLINICAL ASPECTS OF RETT SYNDROME WITH THERAPEUTIC IMPLICATIONS

Rett综合征（RS）是一种进行性神经系统疾病， 在女性中，第一次出现明显正常的精神发育后， 六个月的生命。 RS的病因和发病机制尚不清楚。 没有明显有效的治疗方法。 协调一致的实验室和 临床研究对于阐明这一点至关重要。 问题. 这个项目的总体目标是扩大数据库 关于这种综合症，为了澄清我们对 疾病的各个组成部分，并最终定义 病因学基础 因此，这个项目既增加了， 该计划的其他组成部分的力量。 具体 该项目的目标涉及几个临床研究 RS的表现形式，以确定其性质和自然 历史和记录干预结果。 将评价心脏传导和复极的中断 心电图的前瞻性记录。 心律失常和心率 将通过II期RS中的霍尔特监测确定变异性 患者和年龄匹配的对照组。 这些非侵入性研究将 允许确定自主神经系统的贡献 这些心脏参数的控制和RS中的猝死。 将对RS患者进行视频/EEG/多导监测， 频繁的癫痫发作 癫痫发作的特征和频率与 将确定非癫痫发作事件。 这些研究将提供有关RS的新信息， 可能导致RS患者生活质量的改善。 数据 将与其他项目的数据相关联，以更好地描述 RS的临床表现，并进一步了解 RS的潜在病理生理学。

Rett Syndrome (RS) is a progressive neurological disorder which develops in females after apparent normal psychomotor development for the first six months of life. The etiology and pathogenesis of RS are unknown. There is no clearly effective treatment. Concerted laboratory and clinical investigations are essential for the elucidation of this problem. The overall goal of this project is to expand the data base with respect to this syndrome, to clarify our understanding of the individual components of the disorder, and, ultimately, to define the etiologic basis. As such, this project both adds to and receives strength from the other components of the program. The specific objectives of this project concern the study of several clinical manifestations of RS in order to define their character and natural history and to document intervention outcome. Abnormalities of cardiac conduction and repolarization will be evaluated from prospective recordings of ECG. Arrhythmias and heart rate variability will be determined from Holter monitoring in Stage II RS patients and age-matched controls. These non-invasive studies will permit determination of the contribution of the autonomic nervous system to control of these cardiac parameters and to sudden death in RS. Video/EEG/polygraphic monitoring will be performed in RS patients with frequent possible seizures. The character and frequency of seizures vs non-seizure events will be determined. These studies will provide new information regarding RS and ultimately may lead to improvement in the quality of life for RS patients. The data will be correlated with data from other projects to better characterize the clinical expression of RS and gain further insight into the underlying pathophysiology of RS.