用常规视频和无标记姿态估计,实现儿童多动症症状的自动识别与跨人群迁移。
Simultaneous hyperkinetic movement disorders phenotyping: a cross-cohort pediatric transfer study using routine videos, markerless pose estimation and a tabular foundation model

- 结合姿态估计与基础模型,构建无需重训练的跨人群分析框架
- 在7名儿童患者上,分类准确率提升至83.9%,重叠指数达63.3%
- 仅微调决策层即可适应新群体,适合临床快速部署
目的:开发并外部验证一种基于视频的框架,用于同时检测多种高动症疾病表现(如肌张力障碍、震颤、肌阵挛等),使用常规临床录像,并明确测试从成人到儿童群体的跨队列迁移能力。方法:本概念验证研究将无标记姿态估计、运动学特征与预训练基础模型结合。在21名确诊高动症成人患者及4名健康对照中建立共享预测主干模型,采用标准化评估流程。外部验证在真实世界儿科样本(n=12,遗传性复合型高动症)上进行,主干模型未重新训练,仅通过临床医生选取的代表性子集进行轻量级校准,调整最终个体级决策层。结果:在未见患儿(n=7)中,校准后性能持续提升:汉明准确率从0.804升至0.839,杰卡德指数从0.548增至0.633;当限定于临床判断更一致的症状时,汉明准确率达0.9,杰卡德指数达0.786,表明性能提升不依赖不可靠标签。
原文摘要 · Abstract (English)
Objective: To develop and externally test a video-based framework for simultaneous detection of hyperkinetic MDs phenomenologies: dystonia, tremor, myoclonus, chorea, athetosis, ballismus, stereotypies, and tics using routine clinical recordings, with explicit testing of external, cross-cohort transfer from adult to pediatric populations. Methods: In this proof-of-concept study, the framework combines markerless pose estimation, kinematic descriptors, and a pretrained fondation model. A shared predictive backbone was developed on 21 adults with confirmed hyperkinetic MDs and 4 healthy controls assessed under a standardized protocol. External validation was performed on an independent external cohort: a real-world pediatric sample (n=12, monogenic combined MDs). For the external dataset, the backbone was deployed without retraining; lightweight calibration adjusted only the final subject-level decision step using a small labeled subset of patients selected by clinicians as representative of the cohort's phenotypic range. Results: After local calibration of the decision layer on the clinician-selected subset, performance improved consistently on the held-out pediatric patients (n=7): Hamming accuracy rose from 0.804 to 0.839 and the Jaccard index from 0.548 to 0.633. This calibrated performance was preserved, and the Jaccard index further improved, when the evaluation was restricted to the phenomenologies with more definite clinician agreement (Hamming accuracy 0.9, Jaccard index 0.786), indicating that the gains did not rest on the least-reliable labels.
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