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，即临床图片制作程序，旨在促进 制作、组织和传播视频文档，以改进诊断和 治疗罕见和难于诊断的疾病。目前，罕见疾病患者和他们的照顾者 通常需要5年以上的时间寻找诊断结果，这可能会导致严重的并发症和痛苦。确实有 10,000多种罕见疾病得到了确认。临床医生对它们中的大多数都不熟悉，因此 很难辨认出症状。文字描述可用，但不能完全传达视觉标志和 很复杂。近30年来，GeneticaLens(GL)一直在开发视频数据库和工具来帮助解决 这些问题。在安杰曼综合症和自闭症的SBIR奖上，GL开发了一种拍摄系统， 编辑、验证和传播视频片段和筛选工具，这有助于医疗保健 专业人士认识到这些障碍，并提供适当的护理。这个项目使扩大规模成为可能 该系统，这样更多罕见的疾病可以通过创建临床图片从视频中受益 Maker是一套简化的工具，用于制作罕见疾病的视频记录。这些措施包括：1) DAYTool是一款网络应用程序，教患有罕见疾病的人和他们的照顾者使用智能手机 记录和上传症状和日常生活的视频和2)罕见疾病视频词典(Licion)，a 使用DAYTool上传的可搜索的、不断扩大的视频集合。在第一阶段，GL，与伙伴关系 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，这些父母的孩子 有罕见的与SCN2A基因变异有关的发育障碍。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。一群有孩子的父母 SCN2A将使用DAYTool拍摄他们的孩子，并将视频上传到临床图片制作数据库。 在GL和SCN2A专家的指导下，纽约大学电影研究生将编辑视频，添加关键词和 专家访谈，并将视频组织到词典中。然后GL将评估是否上传了视频 使用DAYTool将有效地帮助纽约大学医学院的一群临床医生和住院医生学习 识别和辨别SCN2A相关疾病的关键症状。平均数量 正确识别了一组观看教育视频的临床医生和一组观看视频的临床医生之间的症状 只有文本，将使用两个样本的t检验进行对比。以20人为一组，我们将有0.80人 检测Cohen‘s d的功率为0.91，对应于较大的效果大小。在第二阶段，GL将包括其他稀有 导致类似症状的神经发育障碍，创建了关于这一群体的全面资源 和《词典》的第一次迭代。长期目标是广泛使用DAYTool来 患者和父母与临床医生和研究人员交流，以及更完整的词典 可向诊所和医学院订阅。

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.