Identification of FASD in South African Children

描述（由申请人提供）：FASD儿童的早期识别受到可靠评估面部畸形的困难的限制，因为研究人员尚未确定一组与产前酒精暴露特别相关的神经行为缺陷。然而，新一代的神经发育措施，已被链接到更具体的神经过程和途径，有可能提高FASD的诊断。我们最近完成了一项前瞻性研究，159名婴儿出生的母亲从开普敦有色人种（混合种族）社区在南非，这证实了异常高的发病率产妇酒精滥用和依赖和FAS以前记录在这一人群中。算术和执行功能（EF）是年龄较大的FASD儿童中最受影响的领域。在我们的开普敦队列中，我们能够使用两种创新的婴儿评估来检测婴儿期这些领域的缺陷：一种是数字性测试，用于评估大小表征，这是与下顶叶功能相关的算术的前身，另一种是A-非B测试，这是EF的早期前身。来自底特律产前酒精暴露队列的新数据也提供了证据，证明年龄较大的儿童在数量级表示方面存在特定缺陷，并且冲突监测较差，EF的一个方面被认为是由前扣带皮层介导的。 胎儿酒精谱系障碍合作倡议（CIFASD）的这一组成部分将在4岁和6岁时对我们的开普敦队列进行随访。具体目标是：（1）实施新的算术和EF窄带测试，以确定这些领域的哪些元素似乎是FASD的核心缺陷;（2）实施事件相关电位（ERP）评估面部情绪表达的幅度表征和识别，这两个领域被假设为与FASD特异性相关;（3）验证母亲年龄和ADH 2 *2等位基因缺失这两个调节变量可以提高产前暴露儿童FASD的识别率的假设;（4）评估婴儿数量和A-非B与儿童早期认知和注意力的预测有效性：（5）确定三维摄影测量颅面变异对FASD诊断的改善程度;和（6）管理与其他CIFASD项目相同的额外神经行为评估，以提供关于FASD后遗症的数据，这些数据可以在年龄、地点和种族组之间进行汇总和比较。改善婴儿和幼儿期的诊断，更好地了解胎儿酒精暴露影响的神经行为功能的特定领域，对于制定和实施针对FASD的有效干预措施至关重要。

DESCRIPTION (provided by applicant): Early identification of children with FASD has been limited by the difficulty of reliably evaluating facial dysmorphology and because investigators have not yet identified a set of neurobehavioral deficits specifically related to prenatal alcohol exposure. However, a new generation of neurodevelopmental measures that have been linked more specifically to neural processes and pathways has the potential to improve FASD diagnosis. We have recently completed a prospective study of 159 infants born to mothers from the Cape Coloured (mixed race) community in South Africa, which has confimed the exceptionally high incidence of maternal alcohol abuse and dependence and FAS previously documented in this population. Arithmetic and executive function (EF) are among the most consistently affected domains in older children with FASD. In our Cape Town cohort, we were able to detect deficits in these domains in infancy using two innovative infant assessments: a numerosity test, which assesses magnitude representation, a precursor of arithmetic that has been linked to inferior parietal function, and the A-not-B test, an early precursor of EF. New data from our Detroit prenatal alcohol exposure cohort also provide evidence of a specific deficit in magnitude representation in older children and poorer conflict monitoring, an aspect of EF believed to be mediated by the anterior cingulate cortex. This component of the Collaborative Initiative on Fetal Alcohol Spectrum Disorders (CIFASD) will follow up our Cape Town cohort at 4 and 6 years of age. The specific aims are: (1) to administer new narrowband tests of arithmetic and EF to determine which elements of these domains appear to be core deficits of FASD; (2) to administer event-related potential (ERP) assessments of magnitude representation and recognition of facial emotional expression, two domains that are hypothesized to relate specifically to FASD; (3) to test the hypothesis that two moderator variables---maternal age and the absence of an ADH2*2 allele--can improve the identification of FASD in prenatally exposed children; (4) to assess the predictive validity of infant numerosity and A-not-B in relation to cognition and attention in early childhood; (5) to determine the degree to which measures of craniofacial variation derived from 3-D photography can improve FASD diagnosis; and (6) to administer additional neurobehavioral assessments in common with other CIFASD projects to provide data on the sequelae of FASD that can be pooled and compared across age, site and ethnic group. Improvement of diagnosis in infancy and early childhood and a better understanding of the specific domains of neurobehavioral function affected by fetal alcohol exposure are critically important for the development and implementation of targeted, effective interventions for FASD.