FASD Diagnostic Telemedicine Resource

项目摘要 据估计，仅在美国，产前酒精暴露就影响了1 - 5%的儿童。但很多 产前暴露于酒精并患有胎儿酒精谱的个体 疾病（FASD）不能被识别。这一失败在很大程度上是由于缺乏专门的 接受过FASD识别培训的畸形学家。获得适当 在偏远地区，诊断专门知识尤其有限。不幸的是，如果患有FASD的人 得不到承认和诊断，他们得不到急需的服务， 在生命早期获得潜在的干预措施，此时干预措施最有可能有效。 CIFASD 5诊断远程医疗资源（DTR）将确保一致性和准确性 在CIFASD研究中心评估FASD的物理特征。在 此外，DTR将通过培训来满足提高诊断能力的迫切需要 CIFASD 5网站使用基于远程医疗的方法的非专家从业人员。在 在先前的CIFASD 4迭代中，远程医疗方法在一个小的 样本的临床医生，并发现是一种有效的方法，培训和监测新的 考官在CIFASD 5中，该方法将扩展到多个站点，并在 对1,800多名儿童和成人进行了评估。 然而，光靠远程医疗不足以扩大能力和确保一致性， 诊断的准确性。为此，开发了一些新的电子保健工具，以协助 检测与产前酒精暴露相关的身体特征。这些工具可以 承诺提供简单有效的方法来筛选和识别FASD。这些包括 MorpheusQ，一个基于智能手机的应用程序，自动化面部特征检测; Face-to-Gene，一个 2D面部图像诊断辅助临床遗传学家用于筛选潜在的综合征;和 3D面部图像签名。这些工具是可扩展的，有潜力改善筛查 和诊断在地球仪，甚至在偏远地区，如在阿拉斯加。然而，诊断 这些工具的准确性需要系统地与标准化的畸形学进行比较。 考试必须确定电子卫生工具是否能够有效地取代和/或改善 传统的考试在广泛实施之前。

Project Summary Prenatal alcohol exposure is estimated to impact 1-5% of children in the US alone. Yet, many individuals who have been exposed prenatally to alcohol and suffer from fetal alcohol spectrum disorders (FASD) fail to be recognized. This failure is due, in large part, to a paucity of specialized clinics and expert dysmorphologists who are trained to identify FASD. Access to appropriate diagnostic expertise is particularly limited in remote areas. Unfortunately, if individuals with FASD are not recognized and diagnosed, they do not receive critically needed services nor can they access potential interventions early in life, when intervention is most likely to be effective. The CIFASD5 Diagnostic-Telemedicine Resource (DTR) will ensure consistent and accurate assessment of the physical characteristics of FASD across the CIFASD research sites. In addition, the DTR will address the critical need for increased diagnostic capacity through training of non-expert practitioners across CIFASD5 sites using telemedicine-based methods. In the previous CIFASD4 iteration, telemedicine approaches were tested for this purpose in a small sample of clinicians and found to be an effective method for training and monitoring of new examiners. In CIFASD5, this method will be extended to multiple sites and be employed in the evaluation of over 1,800 children and adults. However, telemedicine alone is insufficient to expand capacity and ensure consistency and accuracy of diagnosis. To that end, several novel eHealth tools have been developed to assist in the detection of physical features associated with prenatal alcohol exposure. These tools hold promise in providing simple and efficient ways to screen and identify FASD. These include MorpheusQ, a smart-phone based app that automates facial feature detection; Face-to-Gene, a 2D facial image diagnostic aid used by clinical geneticists to screen for potential syndromes; and 3D facial image signatures. These tools are scalable and have the potential to improve screening and diagnosis across the globe, even in remote areas, such as in Alaska. However, the diagnostic accuracy of these tools needs to be systematically compared to standardized dysmorphological exams. It is essential to determine whether eHealth tools can effectively replace and/or improve traditional exams before they are widely implemented.