EPIDEMIOLOGY OF RETT SYNDROME

对Rett综合征的流行病学知识有限。 研究的重点是临床、遗传学和 这种令人困惑的疾病的神经药理学方面。这个 项目4的具体目标是：1)建立德克萨斯州Rett 登记处，一个基于人口的流行和事故登记处 1988-1993年间居住在德克萨斯州的Rett综合征1例，以及 2)开展以人群为基础的病例对照研究，寻找 RET的父母、产前、围产期和产后危险因素 综合症。 德克萨斯州退税登记处。得克萨斯州幅员辽阔，种族多样 人口将能够计算发病率和流行率 对地理定义的区域和黑人、西班牙裔的衡量标准 和白人人口。在初步查明 大约140例(流行或偶发)Rett综合征病例 在登记的第一年，在德克萨斯州，一个 预计将增加10例Rett综合征病例 每年确定一次。所有登记病例的年度随访 Rett综合征将确保临床和流行病学 对该综合征的分期、医疗保健、 治疗方式和生活质量。此外，登记处 也将为病例对照研究提供事件案例 至于本项目的其他5个项目。 病例对照研究。已确定约40起事件 由德克萨斯州Rett注册和160控制(案例：控制比率 1：4)，通过德克萨斯州的密度抽样策略确定 出生证明登记处，将是这起案件的对象- 对照研究。病例和他们的对照将在 生日。受试者的父母将被给予一个标准 接触史问卷，以寻找危险因素 与雷特综合症有关。匹配的分析使用 控制潜在混杂因素的多元Logistic回归方法 将会被执行。所得的Mantel-Haenszel估计量(和 人口优势比的95%可信区间)将 在不同暴露条件下估计Rett综合征的风险比。 对于确定的生物和统计上有意义的暴露 通过这种方式，我们将计算他们的归因风险百分比 用于病例对照研究。这一可归因性风险百分比将 估计Rett综合征的比例可能是 通过消除暴露来防止。风险因素，如果被发现， 可能为Rett综合征提供重要的病因学线索。

Knowledge of the epidemiology of Rett Syndrome is limited. Research has focused on the clinical, genetic and neuropharmacologic aspects of this perplexing disorder. The specific aims of Project 4 are: 1) to establish the Texas Rett Registry, a population-based registry of prevalent and incident case of Rett Syndrome who reside in Texas during 1988-1993, and 2) to conduct a population-based case-control study to search for parental, prenatal, perinatal and postnatal risk factors for Rett Syndrome. Texas Rett Registry. Texas' large and ethnically diverse population will enable the calculation of incidence and prevalence measures for a geographically defined area and for black, hispanic and white populations. After initial ascertainment of approximately 140 (prevalent or incident) cases of Rett Syndrome in the state of Texas during the first year of the registry, an estimated additional 10 incident cases of Rett Syndrome will be ascertained per year. Yearly follow-up of all registered cases of Rett Syndrome will ensure clinical and epidemiological longitudinal investigation of staging of the syndrome, health care, modes of treatment and quality of life. In addition, the registry will provide the incident cases for the case-control study as well as for the other 5 projects of this program project. Case Control Study. Approximately 40 incident cases identified by the Texas Rett Registry and 160 controls (case:control ratio of 1:4), identified via a density sampling strategy through the Texas Birth Certificate Registry, will be the subjects for this case- control study. Cases and their controls will be matched on birthdate. Parents of the subjects will be given a standard exposure history questionnaire to search for risk factors associated with Rett Syndrome. A matched analysis using multiple logistic regression to control for potential confounders will be performed. The resultant Mantel-Haenszel estimator (and 95% confidence intervals) of the population odds ratio will estimate the risk ratio of Rett Syndrome given various exposures. For biologically and statistically significant exposures identified in this manner, we will calculate their attributable risk percent for case control studies. This attributable risk percent will estimate the proportion of Rett Syndrome which could be prevented by eliminating the exposure. Risk factors, if identified, may provide important etiologic clues for Rett Syndrome.