Prevalence and Traits of FASD in the US Population: Evidence from Schools

描述（由申请人提供）： 背景/项目摘要：准确评估胎儿酒精谱系障碍（FASD）的患病率和基于人群的特征是迫切需要的，也是美国主流人群早就应该做的。FASD在美国普通人群中的真实程度、性质和影响，在我们的学校，目前还不清楚和/或未知，尽管最近的估计将FASD的患病率定为2%至5%。通过在三个人群的一年级班级中进行筛查、测试和高度结构化的跨学科、IOM推荐的诊断程序，我们提出：1）通过病例对照和随机抽样方法的两种不同应用，评估美国三个特定一年级人群中两个队列中FASD的患病率; 2）明确患有和不患有FASD的美国儿童的a）身体生长和形态以及B）神经发育特征的确切特征; 3）在巢式研究中应用阵列比较基因组杂交（aCGH）技术，评估任何主要的遗传因素（例如基因缺失综合征），可能影响重度FASD患者的面部畸形（FAS或PFAS）; 4）定义不同水平FASD的美国主流妇女中的特定孕产妇风险因素;和5）与FASD患病率协作组（CoFASP）的数据分析协调组（DACC）协调所有数据内容、收集、格式化和程序，并将收集的所有数据提供给这项由NIAAA资助的计划的DACC。研究将在蒙大拿州的大福尔斯、南达科他州的苏福尔斯和北卡罗来纳州的ABC县进行。在大福尔斯已经进行了三项试点研究，据估计，FASD在一年级儿童中占1 - 2.5%，这一比率大大高于美国目前的估计。随着我们的流行病学方法和程序的成熟，未来美国人口研究的创新方向是明确的。我们经验丰富的临床研究人员团队具有凝聚力，跨学科和专家，在美国和国外拥有12年的类似研究经验。这是一个合适的时机，在美国主流人群中进行基于人群的FASD患病率和特征研究，FASD可能是一个相当大的，但被低估的公共卫生问题。 公共卫生相关性：胎儿酒精谱系障碍（FASD）在美国主流人群中的患病率和特征尚不清楚;最近的估计认为FASD可能影响所有儿童的2%至5%。对3个代表性美国人群的一年级儿童（及其母亲）进行的创新，积极的病例确定研究将准确测量主流人群中FASD的程度，特征和特定背景病因。更好地了解FASD在普通人群中的公共卫生和临床影响将指导更好的诊断，干预和预防。

DESCRIPTION (provided by applicant): Background/Project Summary: Accurate assessments of the prevalence and population-based characteristics of fetal alcohol spectrum disorders (FASD) are sorely needed and long overdue for the U.S. mainstream population. The true extent, nature, and impact of FASD in the general population of the U.S., and in our schools, are currently unclear and/or unknown, although a recent estimate has placed the prevalence of FASD at 2 to 5%. Through screening, testing, and highly-structured interdisciplinary, lOM-recommended diagnostic procedures in 1st grade classes of three populations, we propose to: 1) assess the prevalence of FASD in two cohorts each within three specific 1st grade populations in the U.S. via two different applications of case control and random sampling methods; 2) define the exact characteristics of a) physical growth and morphology and b) neurodevelopmental characteristics U.S. children with and without FASD; 3) apply array comparative genomic hybridization (aCGH) techniques, in a nested study, to assess any major genetic factors (e.g. gene deletion syndromes) that may affect facial dysmorphia in cases of severe FASD (FAS or PFAS); 4) define specific maternal risk factors among mainstream American women for various levels of FASD; and 5) coordinate all data content, collection, formatting, and procedures with the Data Analysis Coordination Component (DACC) of the Collaboration of FASD Prevalence (CoFASP), and provide all data collected to the DACC of this NIAAA-funded initiative. Research will take place in: Great Falls, MT; Sioux Falls, SD; and ABC County, NC [pseudonym]. Three pilot studies have been carried out in Great Falls, and FASD has been estimated there at 1 to 2.5% of 1st grade children, a rate substantially higher than current estimates for the U.S. We are in a truly unique position at this time. As our epidemiologic methods and procedures have matured, the directions for innovation within future studies of U.S. populations are clear. Our experienced team of clinical researchers is cohesive, interdisciplinary, and expert, with 12 years experience in similar studies in the U.S. and foreign countries. This is an opportune time for this population-based study of the prevalence and characteristics of FASD in mainstream U.S. populations where FASD may be a substantially large, but underreported, public health problem. PUBLIC HEALTH RELEVANCE: The prevalence and characteristics of fetal alcohol spectrum disorders (FASD) in the mainstream U.S. population are not known; recent estimates hold that FASD may affect 2 to 5% of all children. Innovative, active case ascertainment research on FASD in 1st grade children (and their mothers) of 3 representative U.S. populations will produce accurate measures of the magnitude, characteristics, and specific contextual etiology of FASD in mainstream populations. A better understanding of the public health and clinical impact of FASD in the general population will guide the way to better diagnosis, intervention, and prevention.