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监测到的一种疾病。在美国，公共卫生对预防、早期识别和多学科治疗的重视与SB患者患病率下降和预后改善有关。尽管自从美国在谷物和小麦谷物中实施叶酸强化以来，SB的出生率有所下降，但每年仍有相当数量的SB出生。尽管我们对SB的治疗以及受影响个体的多种合并症和并发症了解甚多，但很少有针对儿童或成人人群的系统、纵向研究。2003年，美国疾病控制与预防中心（CDC）、医疗保健研究与质量局和美国脊柱裂协会主办了一次多学科会议，审查影响SB患者生活状况的现有研究，并制定一项国家研究议程。该议程的目的是确定SB中16种最重要的并发疾病的研究重点，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、临床医生和护理人员制定实践参数、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，基于人群的监测和综合研究计划在确定疾病的流行程度和建立健康结果数据以及对这些疾病的护理类型方面是有效的。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面临床结果的重要第一步。这些队列的纵向数据的可用性为记录和评估病情的自然史以及各种诊断和治疗策略的效果提供了机会。

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.