Arizona Surveillance and Research Center for Developmental Disabilities

描述：SB是美国和大多数发达国家出生缺陷监测网络中的一种监测条件。公共卫生对预防、早期识别和多学科治疗的重视与美国SB患者患病率的降低和预后的改善有关。尽管自美国对谷物和小麦实施叶酸强化以来，SB出生率有所下降，但每年仍有相当数量的SB出生率。尽管关于SB的管理以及在受影响的个体中发生的多种共病情况和并发症知道得很多，但很少有系统的、纵向的关于儿童或成人队列的研究。2003年，疾病控制和预防中心(CDC)、医疗保健研究和质量机构以及美国脊柱裂协会主办了一次多学科会议，以审查影响SB患者生活的现有研究，并制定全国研究议程。该议程的目的是确定在SB中最重要的16种共生疾病中的研究优先事项，并推进研究工作，以改善受影响者的生活质量，并指导政策制定者、教育工作者、临床医生和照顾者制定实践参数、公共政策和公共卫生活动，以满足这一人群的需求。指导这项研究的假设是，基于人口的监测和综合研究计划在确定疾病的流行率以及建立关于健康结果和这些疾病的护理类型的数据方面是有效的。这种以人群为基础的个体疾病监测是了解受影响人群的全部临床结果的重要的第一步。这些队列的纵向数据的可获得性为记录和评估疾病的自然历史以及各种诊断和治疗策略的影响提供了机会。 该项目建议亚利桑那州提供3-5岁儿童的人口数据，以实现以下具体目标： 具体目标1：生成一个基于人群的数据集，该数据集可以描述SB的自然病史、合并症和相关并发症，作为纵向队列中的基线数据； 具体目标2：描述个人与SB及其家人一起获得的医疗和社会服务，包括预防知识，以及这些服务是否因种族/族裔和社会经济地位而异。这些具体目标将通过完成以下研究目标来实现：1.与疾控中心合作，在目前疾控中心资助的试点项目成果的基础上，完善和最后确定以人口为基础的监测和对SB患者的长期跟踪的议定书。使用基于州的出生缺陷监测系统确定受SB影响的儿童样本。招募儿童及其家庭参与研究。使用多种方法收集数据和信息，包括访谈、调查、记录提取和神经心理测试。评估数据收集方法的有效性。评估项目的结果。

DESCRIPTION: SB is a monitored condition in birth defects surveillance networks across the U.S. and in most developed countries. A public health emphasis on prevention, early identification, and multidisciplinary treatment has been associated with a decreased prevalence and improved outcomes in individuals with SB in the US. Despite the decline in SB births since the implementation of folic acid fortification of cereals and wheat grains in the US, there are still substantial numbers of SB births that occur each year. Although much is known about the management of SB and the multiple co-morbid conditions and complications that occur in affected individuals, there are few systematic, longitudinal studies on population-based cohorts of children or adults. In 2003, the Centers for Disease Control and Prevention (CDC), the Agency for Healthcare Research and Quality, and the Spina Bifida Association of America hosted a multidisciplinary meeting to review the available research on conditions impacting the lives of individuals with SB and to develop a national research agenda. The purpose of this agenda was to identify research priorities in 16 of the most important co-occurring conditions in SB and advance research efforts to improve the quality of life of those affected, as well as to guide policy makers, educators, clinicians, and caregivers in the development of practice parameters, public policy, and public health activities that address the needs of this population. The hypothesis guiding this research is that population-based surveillance and integrated research programs are effective in determining the prevalence of disorders and establishing data on health outcomes and the types of care for these disorders. Such population-based surveillance for individual disorders is an important first step to understanding the full range of clinical outcomes for affected people. The availability of longitudinal data on these cohorts provides an opportunity to document and assess the natural history of the condition and the effects of various diagnosis and treatment strategies. The project proposes that Arizona contribute population-based data on 3-5 year old children with SB to achieve the following specific aims: Specific Aim 1: Generate a population-based dataset that can describe the natural history of SB, co-morbid conditions, and related complications as baseline data in a longitudinal cohort; Specific Aim 2: Describe the medical and social services received by individuals with SB and their families, including knowledge of prevention, and whether these vary by race/ethnicity and socioeconomic status. These specific aims will be achieved through completion of the following research objectives: 1. In collaboration with CDC, refine and finalize the protocol for population-based surveillance and long-term follow up of individuals with SB, building on the results of a CDC-funded pilot project currently underway.2. Identify a sample of children affected by SB using state based Birth Defects Surveillance Systems.3. Recruit children and their families for participation in the study.4. Gather data and information using a combination of methods, including interviews, survey, records abstraction, and neuropsychological testing.5. Assess the effectiveness of data collection methods.6. Assess the outcomes of the project.