Dysmorphology Core (U24 Core)

变形核心（U24 核心）

• 批准号: 6743867
• 负责人: KENNETH Lyons JONES
• 金额: $ 28.07万
• 依托单位: UNIVERSITY OF CALIFORNIA, SAN DIEGO
• 依托单位国家: 美国
• 财政年份: 2003
• 资助国家: 美国
• 起止时间: 2003-09-30 至 2006-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6743867
• 关键词: alcoholism /alcohol abuse; biomedical facility; child physical development; clinical research; congenital disorders; cooperative study; developmental disease /disorder; diagnosis design /evaluation; diagnosis quality /standard; embryo /fetus toxicology; fetal alcohol syndrome; human subject; interview; morphology; neuropsychology; phenotype; three dimensional imaging /topography; training

DESCRIPTION (provided by applicant): Diagnosis of the Fetal Alcohol Spectrum Disorder (FASD) is dependent on the identification of a pattern of malformation including alterations in growth and neurobehavioral development as well as a constellation of specific minor craniofacial anomalies. In that a neurobehavioral phenotype specific for prenatal alcohol exposure has not yet been identified, it is presently not possible to diagnose FASD in the absence of the clinical phenotype. It will be the responsibility of the Dysmorphology Core to assure accurate and consistent diagnosis of FASD in children at all consortium sites through implementation of a standard protocol based on documentation of the clinical phenotype which will be used at all sites. In that this consortium will integrate investigators from different sites throughout the world, it is imperative to have a small core of individuals with extensive experience in evaluation of children prenatally exposed to alcohol responsible for diagnosis of FASD at all sites. Identification of large numbers of children with FASD at various ages, each of whom has received a standardized clinical evaluation will provide the opportunity to gain new insight into a variety of issues relating to the clinical phenotype including the full range of structural defects in the disorder, physical features that are predictive of alterations in neurobehavioral development, the extent to which degrees of growth deficiency should be used to enhance specificity of diagnosis without loss of sensitivity, and will provide the opportunity to develop strategies to diagnose this disorder in the newborn period.

描述（由申请人提供）：胎儿酒精谱系障碍（FASD）的诊断取决于对畸形模式的识别，包括生长和神经行为发育的改变以及一系列特定的轻微颅面异常。由于产前酒精暴露特异性的神经行为表型尚未被鉴定，因此在缺乏临床表型的情况下目前不可能诊断FASD。畸形学核心将负责通过实施基于所有研究中心将使用的临床表型文件的标准方案，确保所有研究中心儿童FASD的准确和一致诊断。由于该联盟将整合来自世界各地不同研究中心的研究者，因此必须有一小部分在评价产前暴露于酒精的儿童方面具有丰富经验的核心人员负责所有研究中心的FASD诊断。 对不同年龄的大量FASD儿童进行鉴定，每个人都接受了标准化的临床评估，这将提供机会，以获得对与临床表型相关的各种问题的新见解，包括疾病的全方位结构缺陷，预测神经行为发育改变的身体特征，生长缺陷的程度应在多大程度上用于提高诊断的特异性而不丧失敏感性，并将提供机会，制定战略，以诊断这种疾病在新生儿期。