Development of a novel mobile application to assist in the diagnosis of Fetal Alcohol Syndrome (FAS)

项目摘要/摘要。胎儿酒精谱系障碍(FASD)是一个重大的公共健康问题 来自产前酒精暴露(PAE)，影响到1-5%的美国人口，可能超过 全球每年有63万名儿童。在评估FASD时，必须评估以下面部特征 作为诊断过程的一部分：眼睑裂隙长度(PFL)、上朱砂的厚度和 人中的流畅性。PFL通常用公制尺子或光度法评估，而嘴唇和 根据一系列五张Likert Scale照片对Philtrum进行了评估。每一项评估都有 方法学问题经常导致特定诊断标准的不可靠应用。还有一个 医疗保健提供者不愿诊断FASD，因为他们对自己的技能没有信心， 导致漏诊或误诊。此外，受影响的个人数量远远超过 诊断人员的能力，特别是在考虑到PAE的全球影响时。其中涉及的一些问题 FASD的诊断可以通过简单易用的移动应用程序来补救，这些应用程序将花费大部分时间 诊断方程中的猜测或启发式元素，提供基于专家意见的评估， 并可供全球医疗保健提供者使用。该项目的几个目标围绕着取代 带有动画的标准Likert比例唇人中指南，从丰满的上唇变形到薄薄的上嘴唇上连续 用户在检查对象时控制的滑块比例。提出了一个类似的变形工具，用于 对人中的评估。这将消除所需排名之间存在的大部分混淆 用于胎儿酒精综合征(Fas)或部分Fas(PFas)的诊断。5分的利克特量表不能提供 即使是在专家之间，足够的指导和一致意见往往也是平庸的。而不是只有一个比例 五个分界，其中只有等级3和4之间的分界对诊断很重要，这些应用程序 通过提供消除所有歧义的连续分布，允许进行更准确的评估。 擅长诊断Fas的形态障碍专家将确定上嘴唇和 在应用程序中使用与Fas或pFas诊断兼容的平滑人中音。当前诊断中的偏差 还将对方法进行评估。即使对于专家来说，PFL也是一个极其困难的衡量标准，因此有人建议 使用具有3D功能的智能手机摄像头将提供一种更准确的方式来评估这一基数 特写。世界上任何地方的医疗保健提供者都可以使用这些应用程序来获取专家意见 几乎即时的反馈，帮助他们做出困难但至关重要的临床诊断。我们加入了 完成这些努力的独特地位，因为我们拥有可以开发的临床和技术专业知识 应用程序，以及访问数据以验证调查结果。考虑到问题的范围和无法访问 专家诊断专家说，这些移动健康应用程序应该至少克服以下问题中的一些问题 FASD的诊断。

Project Summary/Abstract. Fetal alcohol spectrum disorder (FASD) is a major public health issue resulting from prenatal alcohol exposure (PAE), impacting between 1-5% of the US population and perhaps more than 630,000 children globally each year. When assessing for FASD the following facial features must to be evaluated as part of the diagnostic process: palpebral fissure length (PFL), thinness of the upper vermillion, and the smoothness of the philtrum. PFL is typically assessed with a metric ruler or photometrically, while the lip and philtrum are evaluated against a series of five Likert scale photos. Each of these assessments has methodological problems often resulting in unreliable application of specific diagnostic criteria. There is also a reluctance on the part of health care providers to diagnose FASD because they don’t feel confident in their skills, resulting in under- or misdiagnosis. Furthermore, the number of affected individuals is far greater than the capacity of diagnosticians, especially when considering the global impact of PAE. Some of the issues involved in the diagnosis of FASD could be remedied by simple-to-use mobile apps that would take much of the guesswork or heuristic elements out of the diagnostic equation, provide evaluation based upon expert opinion, and can be used by health care providers globally. Several aims of this project revolve around replacing the standard Likert scale lip-philtrum guide with an animation, morphing from a full to a thin upper lip on a continuous slider scale that the user controls while examining a subject. A similar morphing tool is proposed for the assessment of the philtrum. This would eliminate much of the confusion that exists between the rankings required for a fetal alcohol syndrome (FAS) or partial FAS (pFAS) diagnosis. The 5-point Likert scale doesn’t provide enough guidance and agreement even among experts is often mediocre. Rather than having a scale with only five demarcations, where really only the demarcation between a Rank 3 and 4 matters for a diagnosis, the apps allow for a more accurate assessment by providing a continuous distribution removing all ambiguity. Dysmorphologists who are expert at diagnosing FAS will determine the demarcation points for an upper lip and a smooth philtrum compatible with a diagnosis of FAS or pFAS for use in the app. Bias in the current diagnostic methods will also be assessed. PFL is an extremely difficult measurement even for experts, and it is proposed that using a smartphone camera with 3D capability would provide a more accurate way to assess this cardinal feature. These apps could be used by health care providers anywhere in the world to receive expert opinion feedback almost instantly to assist them in making a difficult yet critically important clinical diagnosis. We are in a unique position to accomplish these endeavors, as we have both the clinical and technical expertise to develop the apps, and access to data to validate the findings. Given the scope of the problem and the lack of access to expert diagnosticians, these mobile health applications should overcome at least some of the issues involved in the diagnosis of FASD.