CLINICAL ASPECTS OF RETT SYNDROME WITH THERAPEUTIC IMPLICATIONS

RETT 综合征的临床表现及其治疗意义

• 批准号: 3735459
• 负责人: DANIEL G GLAZE
• 金额: --
• 依托单位: BAYLOR COLLEGE OF MEDICINE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/3735459
• 关键词: Rett syndrome; arrhythmia; autonomic nervous system; electrocardiography; electroencephalography; generalized seizures; heart conduction system; heart disorder; heart rate; human subject; neuropsychological tests; pathologic process; polygraphy; sudden cardiac death

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.

雷特综合征 (RS) 是一种进行性神经系统疾病， 女性在第一次明显正常的精神运动发育后 六个月的生命。 RS 的病因和发病机制尚不清楚。 目前尚无明确有效的治疗方法。 协同实验室和 临床研究对于阐明这一点至关重要 问题。 该项目的总体目标是扩展数据库 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 病因基础。 因此，该项目既增加又接收 来自该计划其他组成部分的力量。 具体的 该项目的目标涉及几个临床研究 RS 的表现形式，以定义其性格和自然 历史记录并记录干预结果。 将评估心脏传导和复极的异常 来自心电图的前瞻性记录。 心律失常和心率 变异性将通过第二阶段 RS 中的动态心电图监测来确定 患者和年龄匹配的对照。 这些非侵入性研究将 允许确定自主神经系统的贡献 控制这些心脏参数并导致 RS 猝死。 将对患有以下疾病的 RS 患者进行视频/脑电图/多描记监测 频繁可能的癫痫发作。 癫痫发作的特征和频率对比 将确定非扣押事件。 这些研究将提供有关 RS 的新信息，并最终 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，以更好地表征 RS 的临床表达并进一步了解 RS 的基本病理生理学。