EPIDEMIOLOGY OF RETT SYNDROME

RETT 综合征的流行病学

• 批准号: 3878755
• 负责人: THOMAS M JONES
• 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/3878755
• 关键词: case history; child (0-11); disease /disorder proneness /risk; ethnic group; human subject; information systems; longitudinal human study; nervous system disorder epidemiology; patient /disease registry; questionnaires; syndrome

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.

对雷特综合征流行病学的了解有限。 研究重点集中在临床、遗传和 这种令人困惑的疾病的神经药理学方面。 这 项目 4 的具体目标是： 1) 建立 Texas Rett 登记处，基于人口的流行病和事件登记处 1988 年至 1993 年间居住在德克萨斯州的雷特综合症病例，以及 2）开展基于人群的病例对照研究，以寻找 Rett 的父母、产前、围产期和产后危险因素 综合症。 德克萨斯州雷特登记处。德克萨斯州人口众多且种族多元化 人口将能够计算发病率和患病率 针对特定地理区域以及针对黑人、西班牙裔的措施 和白人人口。 初步确定后 大约 140 例（流行或偶发）雷特综合征病例 在德克萨斯州登记的第一年， 估计还会有 10 起雷特综合症病例 每年确定。 每年对所有登记案例进行跟踪 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、医疗保健、 治疗方式和生活质量。 此外，注册表 还将提供病例对照研究的事件病例 至于本计划项目的其他5个项目。 病例对照研究。 已确定约 40 起事件案例 德克萨斯州雷特登记处和 160 个对照（病例：对照比率为 1:4），通过德克萨斯州密度抽样策略确定 出生证明登记处将成为本案的主题- 对照研究。 案例及其控制将在 出生日期。 受试者的家长将获得一个标准 暴露史调查问卷以寻找危险因素 与雷特综合症有关。 使用匹配分析 多重逻辑回归控制潜在的混杂因素 将被执行。 由此产生的 Mantel-Haenszel 估计器（以及 95% 置信区间）的总体比值比将 在给定各种暴露的情况下估计雷特综合症的风险比。 对于已确定的具有生物学和统计意义的暴露 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。 该归因风险百分比将 估计雷特综合症的比例可能是 通过消除暴露来预防。 如果确定了风险因素， 可能为雷特综合征提供重要的病因线索。