Dysmorphology Core - U24

描述(由申请人提供)：自1973年首次描述被称为胎儿酒精综合征(Fas)的特定畸形模式以来，很明显，产前酒精暴露与一系列结构异常以及神经行为缺陷有关，现在被称为胎儿酒精谱系障碍(FASD)。然而，产前接触酒精的儿童的全部结构异常尚不清楚，与产前酒精消费的特定模式相关的特定异常或异常簇的发生率也知之甚少。在该联合会之前的三年里，畸形核心制定了一项标准的全面儿童体格评估方案，以确保在所有地点确定构成FASD的广泛特征的一致性。我们建议在整个续展期间继续支持在俄罗斯莫斯科地区和乌克兰Rivne进行前瞻性研究的Consortium站点的第一年儿童以及在洛杉矶、加利福尼亚州圣迭戈、加利福尼亚州阿尔伯克基、新墨西哥州、北部平原州、佐治亚州亚特兰大和南非开普敦进行回顾研究的较大儿童的这些活动。对大量不同年龄段的FASD儿童以及那些具有FASD某些特征但目前不足以使他们有资格诊断(FASD)的儿童进行识别，每个人都接受了标准化的临床检查，以及神经行为评估、神经成像研究、3D照片，在前瞻性研究中，产前超声研究将提供机会，解决通过标准体检发现的FASD相关结构缺陷与其他联盟项目中正在测试的补充诊断方法之间的关系的假设。该项目的具体目标是确保在所有接受儿童评估的CIFASD项目地点对FASD的识别的一致性和准确性；描绘产前接触酒精的儿童的各种结构异常，以便确定包括FASD的边界，在该联合会参与的前瞻性和回溯性研究中；确定可预测从婴儿期到青春期的神经行为发育缺陷的特定结构特征或特征群；将CIFASD标准体检中确定的特定结构特征或特征群与其他CIFASD项目中正在测试的替代或补充方法相关联；并更好地了解FASD的结构特征与大脑发育中的特定缺陷有关的程度。

DESCRIPTION (provided by applicant): Since 1973 when the specific pattern of malformation referred to as the Fetal Alcohol Syndrome (FAS) was first delineated, it has become clear that prenatal alcohol exposure is associated with a broad spectrum of structural anomalies as well as neurobehavioral deficits now referred to as the Fetal Alcohol Spectrum Disorder (FASD). However, the full range of structural anomalies in children prenatally exposed to alcohol is unknown and the incidence of specific anomalies or clusters of anomalies associated with specific patterns of prenatal alcohol consumption are poorly understood. Over the previous three years of the Consortium, the Dysmorphology Core has established a standard comprehensive protocol for physical evaluation of children in order to assure consistency in identification of the broad spectrum of features that constitute FASD at all sites. We propose to continue to support these activities throughout the renewal period in children during the first year of life at Consortium sites in prospective studies in Moscow Region, Russia, and Rivne, Ukraine as well as in older children in retrospective studies in Los Angeles, CA, San Diego, CA, Albuquerque, NM, the Northern Plains states, Atlanta, GA, and Cape Town, South Africa. Identification of large numbers of children at various ages with FAS as well as those with some features of the disorder but not enough to presently qualify them for that diagnosis (FASD), each of whom has received a standardized clinical examination, as well as neurobehavioral evaluation, neuroimaging studies, 3D photographs and, in the prospective studies, prenatal ultrasound studies, will provide the opportunity to address hypotheses regarding the relationship between FASD-related structural defects identified through the standard physical examination with complementary diagnostic methods that are being tested in other Consortium projects. The specific aims of this project are to assure consistency as well as accuracy in recognition of FASD at all CIFASD project sites where children are being evaluated; to delineate the full range of structural anomalies in children prenatally exposed to alcohol in order to determine the boundaries that encompass FASD in prospective as well as retrospective studies involved in the Consortium; to identify specific structural features or clusters of features that are predictive of or correlated with deficits in neurobehavioral development across developmental ages spanning from infancy to adolescence; to correlate the specific structural features or clusters of features identified on the CIFASD standard physical examination with alternative or complementary methods that are being tested in other CIFASD projects; and to better understand the extent to which structural features of FASD are related to specific defects in the development of the brain.