EPIDEMIOLOGY OF RETT SYNDROME

Rett综合征的流行病学知识是有限的。 研究集中在临床、遗传和 神经药理学方面的研究 的 项目4的具体目标是：1）建立得克萨斯州雷特 登记处，一个基于人群的流行病和事件登记处 1988-1993年期间居住在德克萨斯州的Rett综合征病例，以及 2)进行一项基于人群的病例对照研究， Rett的父母、产前、围产期和产后风险因素 综合征 德克萨斯州雷特登记处。德克萨斯州幅员辽阔， 人口将能够计算发病率和患病率 针对地理区域和黑人、西班牙裔的措施 和白色人群。 在初步查明 约140例（流行或偶发）Rett综合征病例 在德克萨斯州注册的第一年， 据估计，将有10例Rett综合征病例发生， 每年确定。 每年对所有登记的 雷特综合征将确保临床和流行病学 综合征分期的纵向调查，卫生保健， 治疗方式和生活质量。 此外，书记官处 也将为病例对照研究提供事件病例 本项目的其他5个项目。 病例对照研究。 查明约40起事件 和160例对照（病例：对照比为 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，将是本案的主题- 对照研究 病例及其对照将在 生日 受试者的家长将得到一个标准 暴露史调查表，以搜索风险因素 与Rett综合征有关。 匹配分析使用 多重logistic回归以控制潜在混杂因素 将被执行。 由此产生的Mantel-Haenszel估计量（和 95%置信区间）的总体比值比将 估计各种暴露情况下Rett综合征的风险比。 对于确定的具有生物学和统计学意义的暴露 通过这种方式，我们将计算其可归因风险百分比 用于病例对照研究。 该归因风险百分比将 估计Rett综合征的比例， 通过消除暴露来防止。 风险因素，如果确定， 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.