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， 女性首次出现明显正常的精神运动发育 六个月的生命。RS的病因和发病机制尚不清楚。 目前还没有明显有效的治疗方法。协同实验室和 临床研究对于阐明这一点是必不可少的。 有问题。该项目的总体目标是扩大数据库 关于这种综合征，为了澄清我们对 疾病的个别组成部分，并最终定义 病因学基础。因此，该项目既可以添加也可以接收 从该计划的其他组成部分获得优势。具体的 该项目的目标涉及几个临床研究 RS的表现形式，以明确其性质和性质 记录历史并记录干预结果。 将评估心脏传导和复极的异常。 从预期的心电记录中。心律失常与心率 变异性将通过动态心电图监测在第二阶段RS中确定 患者和年龄匹配的对照组。这些非侵入性研究将 允许测定自主神经系统的贡献 控制这些心脏参数，防止RS猝死。 对患有以下疾病的RS患者进行视频/脑电/多导描记监测 频繁可能的癫痫发作。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，最终 可能会改善RS患者的生活质量。数据 将与其他项目的数据相关联，以更好地描述 RS的临床表现及对本病的进一步认识 RS的基本病理生理学基础。

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.