Dysmorphology Core

描述(申请人提供)：虽然大脑是发育中的结构，对酒精最敏感，但胎儿酒精综合征(FAS)的诊断目前依赖于仔细的体检发现的特征，而不是大脑结构或行为的变化，FASD是胎儿酒精谱系障碍(FASD)谱系中最严重的一端。在之前的资助期间，畸形核心在世界各地的财团地点评估了345名患有Fas的受试者，771名被推迟治疗的受试者和502名没有接受Fas治疗的受试者。这项建议的具体目的是在所有联合体的更新期间继续支持这些活动，开发一种培训DVD，可用于教导在FASD诊断方面几乎或没有经验的医生和其他卫生保健专业人员成功诊断或排除这种疾病， 在加州大学圣地亚哥分校(UCSD)远程医疗通信中心(UCSD)的帮助下开发的这一无线、互动、视听远程会诊系统将使偏远地区的医生有机会对被认为患有胎儿酒精谱系障碍(FASD)的儿童进行全面检查，加州大学圣地亚哥分校的畸形专家可以同时查看该检查，并记录产前暴露于酒精的儿童中重大畸形的发生率，从而描绘与酒精相关的出生缺陷的程度。此外，开发培训DVD，向医生和其他卫生保健提供者传授诊断FASD的方法，将有助于填补获得专家诊断专家的空白。最后，鉴于与主要结构缺陷相关的发病率和死亡率很高，对酒精相关出生缺陷(ARBD)的严格评估将提供重要信息，说明是否需要根据产前接触酒精来筛查儿童的这些缺陷。

DESCRIPTION (provided by applicant): Although the brain is the developing structure most sensitive to alcohol, the diagnosis of Fetal Alcohol syndrome (FAS), which represents the most severe end of the spectrum of Fetal Alcohol Spectrum Disorders (FASD), is presently dependent, not upon alterations of brain structure or behavior, but upon features identified on a careful physical examination. Over the previous funding periods the Dysmorphology Core has evaluated 345 subjects with FAS, 771 who have been Deferred and 502 with NO FAS at consortium sites throughout the world. The specific aims of this proposal are to continue to support these activities throughout the renewal period at all consortium sites, to develop a training DVD that could be used to teach physicians and other health care professionals with little or no experience in diagnosis of FASD to successfully diagnose or rule out this disorder, to develop with the help of the Telemedicine Communications Center at the University of California, San Diego (UCSD), a wireless, interactive, audiovisual tele-consultation system that will provide the opportunity for a practitioner in a remote area to perform a comprehensive examination of a child considered to have Fetal Alcohol Spectrum Disorders (FASD) that could be simultaneously viewed, by an expert dysmorphologist at UCSD, and to document the prevalence of major malformations in children prenatally exposed to alcohol, and in so doing, delineate the extent of Alcohol Related Birth Defects (ARBD). Furthermore, the development of a training DVD to teach physicians and other health care providers an approach to diagnosis of FASD will help fill the gap in access to expert diagnosticians. Finally, given the significant morbidity and mortality associated with major structural defects, a rigorous evaluation for Alcohol Related Birth Defects (ARBD) will give important information regarding the need to screen children for these defects based on having been exposed prenatally to alcohol.