Dysmorphology Core - U24

描述（由申请人提供）：自1973年被称为胎儿酒精综合征（FAS）的特殊畸形模式被首次描述以来，已经清楚的是，产前酒精暴露与广泛的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，产前暴露于酒精的儿童结构异常的全部范围尚不清楚，与产前饮酒的特定模式相关的特定异常或异常群集的发生率也知之甚少。在过去的三年里，畸形学核心已经为儿童的身体评估建立了一个标准的综合方案，以确保在所有地点确定构成FASD的广泛特征的一致性。我们建议在俄罗斯莫斯科地区和乌克兰里弗恩的前瞻性研究的联盟站点中，以及在加利福尼亚州洛杉矶、圣地亚哥、阿尔伯克基、新墨西哥州、北部平原各州、佐治亚州亚特兰大和南非开普敦的回顾性研究中，继续支持这些活动，在儿童出生后第一年的整个更新期间支持这些活动。识别大量不同年龄的FAS儿童以及那些有一些障碍特征但目前不足以使他们符合诊断（FASD）的儿童，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，将提供机会来解决关于fasd相关结构缺陷之间关系的假设，这些缺陷是通过标准体检确定的，与其他联盟项目中正在测试的补充诊断方法有关。这个项目的具体目标是确保在评估儿童的所有CIFASD项目地点识别FASD的一致性和准确性；描述产前暴露于酒精的儿童的所有结构异常，以便在该联盟参与的前瞻性和回顾性研究中确定包括FASD的边界；识别特定的结构特征或特征簇，这些特征可以预测或与婴儿期到青春期的神经行为发育缺陷相关；将在CIFASD标准体格检查中发现的特定结构特征或特征群与CIFASD其他项目正在测试的替代或补充方法联系起来；并更好地了解FASD的结构特征在多大程度上与大脑发育中的特定缺陷有关。

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.