Dysmorphology Core

形态异常核心

• 批准号: 8527618
• 负责人: KENNETH Lyons JONES
• 金额: $ 23.27万
• 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 2017-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8527618
• 关键词: Age; Alcohol abuse; Alcohol-related birth defects; Alcohols; Area; Behavior; Brain; California; Characteristics; Child; Classification; Cohort Studies; Collaborations; Communication; Congenital Heart Defects; Consultations; Defect; Development; Diagnosis; Disease; Distant; Dysmorphology; Educational process of instructing; Evaluation; Fetal Alcohol Exposure; Fetal Alcohol Spectrum Disorder; Fetal Alcohol Syndrome; Fetus; Funding; Health Personnel; Health Professional; Heavy Drinking; Human; Incidence; Infant; Kidney; Life; Locales; Location; Methodology; Morbidity - disease rate; Mothers; Nursery Schools; Participant; Physical Examination; Physicians; Preschool Child; Prevalence; Protocols documentation; Public Health; Published Comment; Relative (related person); Research; Site; Structure; System; Telemedicine; Testing; Training; Training Programs; Ukraine; Ultrasonography; Universities; Wireless Technology; base; compare effectiveness; continuing medical education; experience; malformation; member; mortality; oral cleft; pediatrician; prevent; programs; prospective

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.

描述（由申请人提供）：尽管大脑是对酒精最敏感的发育结构，但胎儿酒精综合征（FAS）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所确定的特征，FAS代表胎儿酒精谱系障碍（FASD）的最严重一端。在之前的资助期内，形态异常核心研究在世界各地的联盟研究中心评价了345例FAS受试者，其中771例被推迟，502例无FAS。 该提案的具体目标是在所有联盟地点的整个更新期间继续支持这些活动，开发培训DVD，可用于教授在FASD诊断方面经验很少或没有经验的医生和其他医疗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）远程医疗通信中心的帮助下开发一种无线、交互式、视听远程咨询系统，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，可以由加州大学圣地亚哥分校的畸形学家专家同时查看，并记录产前接触酒精的儿童严重畸形的患病率，并在此过程中描述酒精相关出生缺陷（ARBD）的程度。 此外，开发一个培训DVD，向医生和其他卫生保健提供者教授FASD的诊断方法，将有助于填补获得专家诊断医生的差距。最后，考虑到与主要结构缺陷相关的显著发病率和死亡率，对酒精相关出生缺陷（ARBD）的严格评估将提供关于需要根据产前暴露于酒精的儿童筛查这些缺陷的重要信息。