Dysmorphology Core - U24

描述（由申请人提供）：自1973年首次描述称为胎儿酒精综合征（FAS）的特定畸形模式以来，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相关，现在称为胎儿酒精谱系障碍（FASD）。然而，产前暴露于酒精的儿童的结构异常的全部范围是未知的，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知之甚少。在过去三年的联盟，Dysmorphology核心已经建立了一个标准的全面协议，为儿童的身体评估，以确保一致性，在确定的广泛的功能，构成FASD在所有网站。我们建议在整个更新期内继续支持这些活动，包括在俄罗斯莫斯科地区和乌克兰罗夫尼的联合研究中心进行的前瞻性研究中的1岁儿童，以及在洛杉矶、加利福尼亚州圣地亚哥、新墨西哥州阿尔伯克基、北方平原州、佐治亚州亚特兰大和南非开普敦进行的回顾性研究中的大龄儿童。识别大量不同年龄的FAS儿童以及具有该疾病的某些特征但目前不足以使其符合该诊断（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，神经影像学研究，3D照片，并且在前瞻性研究中，产前超声研究，将提供机会，以解决有关FASD相关的结构缺陷之间的关系，通过标准的物理检查与互补的诊断方法，正在测试的其他财团项目的假设。该项目的具体目标是确保在儿童接受评估的所有CIFASD项目地点识别FASD的一致性和准确性;描述产前接触酒精的儿童的全部结构异常，以确定在联合会参与的前瞻性和回顾性研究中包括FASD的界限;识别特定的结构特征或特征群，这些特征可预测从婴儿期到青春期的各个发育年龄段的神经行为发育缺陷或与之相关;将CIFASD标准体格检查中确定的特定结构特征或特征群与其他检查中正在测试的替代或补充方法相关联，CIFASD项目;并更好地了解FASD的结构特征与大脑发育中特定缺陷的相关程度。

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.