Reassessing FASD: Novel Approaches for Evaluating Exposure, Diagnosis and Outcomes in Children Prenatally Exposed to Alcohol

项目摘要 胎儿酒精谱系障碍（FASD）是由产前酒精暴露（PAE）引起的， 每年花费超过40亿美元。FASD是一系列发育障碍， 并可能导致终身残疾。虽然存在有益的治疗方法，但受影响个体的识别 已被证明是困难的，大多数患有FASD的个体未被诊断或误诊。有 在知识方面存在大量空白，而这些空白对改善预防、诊断和治疗 FASD。首先，虽然PAE是FASD的原因，但它不是确定性的。更好地了解具体的 与特定FASD结果相关的酒精使用模式将为预防和干预工作提供信息， 并支持早期诊断。第二，分类模式，最有效地利用了许多物理 与PAE相关的体征及其作为大脑发育受损标志物的作用可能导致早期 更好的诊断。第三，尽管已经确定了几个辅助因素作为FASD风险的修饰因子， 还有更多的辅助因子、介导因子和修饰因子尚未被探索，这些因素可能会在很大程度上影响 病理生理学和干预措施。这些知识差距中的每一个都代表着高度的研究优先事项， FASD的预防和治疗。 本研究的目的是通过专门针对这些问题的研究来改善FASD的诊断。 上述差距。在先前由NIH-NIAAA资助的一项研究中，研究人员组成了 胎儿酒精谱系障碍患病率联盟（CoFASP）首次确定了一个区域性的 基于美国四个社区的FASD患病率估计，这些研究人员共同开发了一个 横断面研究设计的通用方案，并建立了一致同意的分类标准， FASD。对6，000多名儿童进行了FASD筛查，并收集了2，900多名儿童的综合数据。 每个相关领域的儿童，包括畸形;生长;认知，行为和适应 功能;母体特征; PAE和用于子集3D面部图像。使用CoFASP数据集，我们 将1）采用新方法阐明与PAE相关结局风险相关的暴露模式，2） 测试与FASD诊断和神经发育相关的新方法和诊断标准 结果，以及3）调查作为中介和/或修饰符的背景和健康相关协变量 的FASD。 本研究提出的进展允许深入了解FASD的病因和分类， 最终，影响FASD患病率的因素。这项提案的调查人员是多学科的， 并共同为研究提案提供创新和有凝聚力的方法。通过这些小说 方法，我们预计提供了一个基础，为未来的分类模式，暴露评估， 基于经验证据的干预策略。

Project Summary Fetal alcohol spectrum disorders (FASD) are caused by prenatal alcohol exposure (PAE), and occur in 1-5% of the population at a cost that exceeds $4 billion dollars per year. FASD is a continuum of developmental disorders, and can result in life long disabilities. Although beneficial treatments exist, identification of affected individuals has proven difficult, and the majority of individuals with FASD are undiagnosed or misdiagnosed. There are a large number of gaps in knowledge that are critical to improvement in prevention, diagnosis and treatment for FASD. First, although PAE is the cause of FASD, it is not deterministic. A better understanding of the specific alcohol use patterns associated with specific FASD outcomes would inform prevention and intervention efforts, and support earlier diagnoses. Second, classification schema that most effectively utilizes the many physical signs associated with PAE and their contribution as markers of impaired brain development could lead to earlier and better diagnosis. Third, although several co-factors have been established as modifiers of risk for FASD, many more co-factors, mediators and modifiers remain unexplored that could substantially inform the pathophysiology and intervention efforts. Each of these knowledge gaps represent high research priorities for the prevention and treatment of FASD. The purpose of this study is to improve diagnosis of FASD through research that specifically addresses these aforementioned gaps. In a study previously funded by NIH-NIAAA, investigators formed The Collaboration on Fetal Alcohol Spectrum Disorders Prevalence consortium (CoFASP) to determine, for first time, a regionally- based prevalence estimate of FASD in four communities in the U.S. Together, these researchers developed a common protocol for the cross-sectional study design and established agreed upon classification criteria for FASD. Over 6,000 children were screened for FASD, and comprehensive data were collected on over 2,900 children for each of the relevant domains including dysmorphology; growth; cognitive, behavioral and adaptive functioning; maternal characteristics; PAE and for a subset 3D facial images. Using the CoFASP data set, we will 1) employ novel methods to elucidate exposure patterns associated with risk for PAE-related outcomes, 2) test new methodologies and diagnostic criteria as they pertain to FASD diagnosis and neurodevelopmental outcomes, and 3) investigate contextual and health-related covariates that function as mediators and/or modifiers of FASD. The advances proposed in this research allow for insights into the etiology and classification of FASD, and ultimately, factors that affect the prevalence of FASD. The investigators on this proposal are multidisciplinary, and together offer an innovative and cohesive approach to the research proposal. Through these novel approaches, we anticipate providing a foundation for future classification schema, exposure assessment and intervention strategies that are grounded in empirical evidence.