The development of the Clinical Picture Maker, a novel video platform to aid the diagnosis and treatment of SCN2A-related disorders, and other rare diseases.

摘要 这个STTR应用程序提出了一个新的平台，临床图片制作，旨在促进 制作，组织和传播视频文件，可以改善诊断和 治疗罕见和难以诊断的疾病。目前，患有罕见疾病的人及其护理人员 经常面临5年以上的诊断搜索，这可能导致严重的并发症和痛苦。有 超过10，000种罕见疾病。临床医生不熟悉其中的大多数，因此， 很难识别症状。文字说明可用，但不能完全传达视觉标志， 复杂性近30年来，GeneticaLens（GL）制作了视频数据库和工具，以帮助解决 这些问题随着SBIR对安格尔曼综合症和自闭症的奖项，GL开发了一个拍摄系统， 编辑、验证和传播视频片段和筛选工具，这有助于医疗保健 专业人员认识到这些疾病并提供适当的护理。这个项目使得规模化成为可能 该系统，使更多罕见的疾病可以受益于视频通过创建临床图片 Maker是一套精简的工具，用于制作罕见疾病的视频文档。它们包括：（1） DAYTool是一个网络应用程序，教患有罕见疾病的人及其护理人员使用智能手机， 记录和上传症状和日常生活的视频，以及2）罕见疾病视频词典（Lexicon）， 使用DAYTool上传的可搜索、不断扩展的视频集合。在第一阶段，GL与 与纽约大学合作，将在一组父母中测试临床图片制作器的使用， 患有与SCN2A基因变异有关的罕见发育障碍。这些疾病会导致严重的 癫痫、运动障碍、自主神经功能障碍和自闭症。一群孩子的父母 SCN2A将使用DAYTool拍摄其儿童并将视频上传至Clinical Picture Maker数据库。 在GL和SCN2A专家的指导下，纽约大学电影专业的研究生将编辑视频，添加关键词， 专家访谈，并将视频组织到词典中。然后GL将评估上传的视频是否 使用DAYTool将有效地帮助纽约大学医学院的一组临床医生和住院医生学习 识别和区分SCN2A相关疾病的主要症状。平均数 在一组观看教育视频的临床医生和一组观看 仅文本，将使用双样本t检验进行对比。对于20名参与者的小组，我们将获得0.80 检测Cohen d的功效为0.91，对应于大的效应量。在第二阶段，GL将包括其他罕见的 神经发育障碍，导致类似的症状，创造了一个全面的资源，对这一组 和第一次迭代的词典。长期目标是广泛使用DAYTool， 患者和家长与临床医生和研究人员以及更完整的词典进行沟通 可向诊所和医学院订购。

ABSTRACT This STTR application proposes a new platform, the Clinical Picture Maker, which aims to facilitate the production, organization, and dissemination of video documentation that can improve the diagnosis and treatment of rare and difficult to diagnose disorders. At present, people with rare disorders and their caregivers often face a 5+ year search for a diagnosis, which can lead to serious complications and suffering. There are more than 10,000 identified rare diseases. Clinicians are unfamiliar with most of them and therefore have difficulty recognizing the symptoms. Text descriptions are available but do not fully convey the visual signs and complexities. For nearly 3 decades, GeneticaLens (GL) has produced video databases and tools to help solve these problems. With SBIR awards on Angelman Syndrome and autism, GL developed a system of filming, editing, validating and disseminating video segments and screening tools, which has helped healthcare professionals recognize these disorders and provide appropriate care. This project makes it possible to scale the system, so that more rare disorders can benefit from video through the creation of the Clinical Picture Maker, a streamlined set of tools for producing video documentation of rare diseases. They include: 1) the DAYTool, a web app that teaches people with rare disorders and their caregivers to use their smartphones to record and upload videos of symptoms and daily life and 2) the Rare Disorder Video Lexicon (Lexicon), a searchable, ever-expanding collection of videos uploaded using the DAYTool. In Phase I, GL, in partnership with New York University, will test the use of the Clinical Picture Maker with a group of parents whose children have rare developmental disorders related to variations in the SCN2A gene. These disorders cause severe seizures, movement disorders, autonomic dysfunction and autism. A group of parents of children with the SCN2A will use the DAYTool to film their children and upload the video to the Clinical Picture Maker database. With guidance from GL and SCN2A experts, NYU graduate film students will edit the video, add key words and expert interviews, and organize the video into the Lexicon. GL will then evaluate whether the videos uploaded using the DAYTool will be effective in helping a group of clinicians and residents at NYU’s medical school learn to recognize and distinguish between the key symptoms of SCN2A-related disorders. Average number of correctly identified symptoms between a group of clinicians viewing educational videos and a group viewing only text, will be contrasted using a two-sample t test. With groups of twenty participants, we will have 0.80 power to detect Cohen’s d of 0.91, corresponding to a large effect size. In Phase II, GL will include other rare neurodevelopmental disorders that cause similar symptoms, creating a comprehensive resource on this group of disorders and the first iteration of the Lexicon. The long-term goal is widespread use of the DAYTool for patients and parents to communicate with clinicians and researchers as well as a more complete Lexicon available by subscription to clinics and medical schools.