Identification of FASD in South African Children

描述(由申请人提供)：FASD儿童的早期识别一直受到以下因素的限制：难以可靠地评估面部畸形，以及调查人员尚未确定一组与产前酒精暴露具体相关的神经行为缺陷。然而，新一代的神经发育测量已经更具体地与神经过程和通路联系在一起，有可能改善FASD的诊断。我们最近完成了一项前瞻性研究，对159名来自南非开普省有色人种(混合种族)社区的母亲所生的婴儿进行了研究，该研究证实了母亲酗酒和依赖的异常高发生率，以及之前在该人群中记录的Fas。算术和执行功能(EF)是患有FASD的大龄儿童中受影响最持续的领域之一。在我们的开普敦队列中，我们能够使用两项创新的婴儿评估在婴儿期检测到这些领域的缺陷：数字测试，评估大小代表，这是与下顶叶功能有关的算术先兆；以及A-Not-B测试，EF的早期先兆。来自底特律产前酒精暴露队列的新数据也提供了证据，表明在较大的儿童中存在特定的幅度代表缺陷和较差的冲突监测，这是EF的一个方面，据信是由前扣带回皮质调节的。 胎儿酒精谱障碍合作倡议(CIFASD)的这一组成部分将在4岁和6岁时跟踪我们开普敦的队列。具体目标是：(1)对算术和EF进行新的窄带测试，以确定这些领域中哪些元素似乎是FASD的核心缺陷；(2)对大小表征和面部情绪表达识别的事件相关电位(ERP)评估，这两个领域被假设为与FASD具体相关；(3)测试两个调节变量--母亲年龄和ADH2*2等位基因缺失--可以改善产前暴露儿童FASD的识别能力的假设；(4)评估婴儿数字和A-Not-B与儿童早期认知和注意力的预测有效性；(5)确定从3D摄影得出的头面部变化测量方法在多大程度上可以改善FASD诊断；以及(6)与CIFASD的其他项目共同进行额外的神经行为评估，以提供关于FASD后遗症的数据，这些数据可以汇集在一起，并在不同年龄、地点和种族之间进行比较。改善婴儿期和儿童期的诊断，更好地了解胎儿酒精暴露影响神经行为功能的特定领域，对于开发和实施有针对性的有效干预FASD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.