Rett syndrome: determinants of outcome and burden

雷特综合征：结果和负担的决定因素

• 批准号: 6678177
• 负责人: HELEN M LEONARD
• 金额: $ 17.01万
• 依托单位: UNIVERSITY OF WESTERN AUSTRALIA
• 依托单位国家: 美国
• 财政年份: 2003
• 资助国家: 美国
• 起止时间: 2003-09-18 至 2008-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6678177
• 关键词: Australia; Downs syndrome; Internet; Rett syndrome; behavioral /social science research tag; behavioral medicine; clinical research; disease /disorder etiology; epilepsy; family genetics; family structure /dynamics; functional ability; genotype; health care; health care cost /financing; human mortality; human subject; interview; longitudinal human study; mathematical model; outcomes research; psychomotor function; quality of life; scoliosis; social support network; statistics /biometry

DESCRIPTION (provided by applicant): This population-based study will follow the current cohort of live (n=225) cases with Rett syndrome in Australia for a further five years. New cases ascertained during the study period will also be included. It will describe the natural history of Rett syndrome and assess its impact on resource utilization and the economic and social burden on families and community in comparison with Down syndrome and a normal comparison group. Baseline data on communication, mobility, symptoms and classification have been gathered on the cohort since 1993. In 2000 data were collected on functional ability in daily living, behavior, hand function, medical conditions, and use of health and education services. Mutation data, collected on 80 percent of cases will be continued. A questionnaire has been developed, piloted and will be used to collect data on function, health and well-being of the Rett syndrome subjects and family in 2002, 2004 and 2006. Data will be gathered for the Down syndrome comparison group in 2003. Participants will respond via paper-based or through secure on-line formats. Optical scanning or on-line data capture will be used for data entry. In 2003 and 2005 clinical assessments or clinical file review will provide EEG, ECG, blood parameters, bone densitometry and autonomic nervous system data. A video protocol developed in 2001 to record functional ability will be extended to include gross motor and oral motor function, hand apraxia, gait assessment and language function. Serial videos collected in 2003 and again in 2005 will enable us to monitor changes over time and the effect of therapy or surgery. Yearly telephone interviews to families will record anthropometric data, current medication usage and update previously collected family tree data. Every two years a validated questionnaire to identify epilepsy type will be included. Resource data to determine the direct, indirect and opportunity costs associated with Rett syndrome will be compared with a normal and Down syndrome comparison group. Data analysis will use multiple regression models to examine effects of different variables on child and family level outcomes and discriminant analysis, recursive partitioning and machine learning to identify genotype/phenotype associations at the individual child level. Feedback to families on study progress will be given through the study Web site.

描述（由申请人提供）：这项基于人群的研究将遵循当前的现场现场（n = 225）病例与澳大利亚RETT综合征的病例持续五年。在研究期间确定的新病例也将包括在内。它将描述RETT综合征的自然历史，并评估其对资源利用率以及与唐氏综合症和正常比较组相比的资源利用以及对家庭和社区的经济和社会负担的影响。自1993年以来，在该队列上收集了有关交流，流动性，症状和分类的基线数据。在2000年收集了有关日常生活，行为，手部功能，医疗状况以及健康和教育服务的功能能力的数据。将继续对80％的病例收集的突变数据将继续进行。已经开发了问卷，试验并将用于收集2002年，2004年和2006年RETT综合征主题和家庭的功能，健康和福祉的数据。将在2003年收集唐氏综合症比较组的数据。参与者将通过基于纸张的纸张或通过安全的在线网上格式进行响应。光学扫描或在线数据捕获将用于数据输入。在2003年和2005年，临床评估或临床文件审查将提供脑电图，心电图，血液参数，骨密度测定法和自主神经系统数据。 2001年开发的视频协议将扩展到功能能力，包括大电机和口服运动功能，手失调，步态评估和语言功能。在2003年收集的序列视频和2005年再次收集的视频将使我们能够随着时间的流逝而监视变化以及治疗或手术的影响。对家庭的年度电话采访将记录人体测量数据，当前的药物使用情况并更新先前收集的家谱数据。每两年，将包括一份经过验证的调查表，以识别癫痫类型。将与RETT综合征相关的直接，间接和机会成本确定的资源数据将与正常和唐氏综合症比较组进行比较。数据分析将使用多个回归模型来检查不同变量对儿童和家庭级别的结果以及判别分析，递归分区和机器学习的影响，以识别单个儿童级别的基因型/表型关联。研究进度的家庭的反馈将通过研究网站给出。