Simultaneous hyperkinetic movement disorders phenotyping: a cross-cohort pediatric transfer study using routine videos, markerless pose estimation and a tabular foundation model
Abstract
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.
Versions
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BibTeX
@misc{cif2026simultaneous,
title = {{Simultaneous hyperkinetic movement disorders phenotyping: a cross-cohort pediatric transfer study using routine videos, markerless pose estimation and a tabular foundation model}},
author = {Laura Cif and Diane Demailly and Zohra Souei and Muhammad Mushhood Ur Rehman and Juan Dario Ortigoza Escobar and Mayté Castro Jiménez and Cécile A. Hubsch and Sophie Huby and Morgan Dornadic and Gun-Marie Hariz and Eduardo M. Moraud and Jocelyne Bloch and Gabriella A. Horvath and Xavier Vasques},
howpublished = {arXiv},
year = {2026},
month = jun,
doi = {10.48550/arxiv.2606.07674},
eprint = {2606.07674},
archivePrefix = {arXiv},
url = {https://arxiv.org/abs/2606.07674},
}
RIS
TY - UNPB
TI - Simultaneous hyperkinetic movement disorders phenotyping: a cross-cohort pediatric transfer study using routine videos, markerless pose estimation and a tabular foundation model
AU - Laura Cif
AU - Diane Demailly
AU - Zohra Souei
AU - Muhammad Mushhood Ur Rehman
AU - Juan Dario Ortigoza Escobar
AU - Mayté Castro Jiménez
AU - Cécile A. Hubsch
AU - Sophie Huby
AU - Morgan Dornadic
AU - Gun-Marie Hariz
AU - Eduardo M. Moraud
AU - Jocelyne Bloch
AU - Gabriella A. Horvath
AU - Xavier Vasques
PY - 2026
DA - 2026/06/04
PB - arXiv
DO - 10.48550/arxiv.2606.07674
UR - https://arxiv.org/abs/2606.07674
AB - 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.
ER -