Dysmorphology Core

描述（由申请人提供）：虽然大脑是对酒精最敏感的发育结构，但胎儿酒精综合症（FAS）（代表胎儿酒精谱系障碍（FASD）最严重的一端）的诊断目前并不依赖于大脑结构或行为的改变，而是依赖于仔细体检中发现的特征。在之前的资助期间，Dysmorphology Core 已在世界各地的联盟站点评估了 345 名患有 FAS 的受试者、771 名被推迟的受试者以及 502 名没有 FAS 的受试者。 该提案的具体目标是在所有联盟站点的整个更新期间继续支持这些活动，开发培训 DVD，可用于教导医生和其他医疗保健专业人员在 FASD 诊断方面很少或没有经验，以成功诊断或排除这种疾病， 在加州大学圣地亚哥分校 (UCSD) 远程医疗通信中心的帮助下，开发了一种无线、交互式、视听远程会诊系统，该系统将为偏远地区的从业者提供机会，对被认为患有胎儿酒精谱系障碍 (FASD) 的儿童进行全面检查，并由 UCSD 的畸形专家同时查看，并记录产前接触酒精的儿童中主要畸形的患病率，并在此过程中描述酒精相关出生缺陷（ARBD）的程度。 此外，开发培训 DVD 来向医生和其他医疗保健提供者传授 FASD 的诊断方法，将有助于填补获得专家诊断医生的空白。最后，考虑到与主要结构缺陷相关的显着发病率和死亡率，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的情况对儿童进行这些缺陷筛查。

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.