AI-Based Digital Assessment of Gross Motor Function in Metachromatic Leukodystrophy.

AI / informaticsIEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology Society· 2026

AI-Based Digital Assessment of Gross Motor Function in Metachromatic Leukodystrophy.

Fangqiang Ding, Jiangpeng He, Javier Gervas-Arruga … Hermano Igo Krebs

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Child NeurologyAI / informaticsQ1IF 7.6

AI model estimates gross motor function scores from movement videos in leukodystrophy

AI-Based Digital Assessment of Gross Motor Function in Metachromatic Leukodystrophy.

Fangqiang Ding … Hermano Igo Krebs

IEEE transactions on neural systems and rehabilitation engineering · 2026 · Q1 in General Medicine

Background

Gross motor function in metachromatic leukodystrophy (metachromatic leukodystrophy) is routinely assessed using the GMFC-metachromatic leukodystrophy scale, but expert video-based scoring is resource-intensive and difficult to scale across sites and time.

Methods

Using recordings from the multi-site EMBOLDEN phase-2 trial (NCT03771898), we curate MELD-2D comprising 44 children and 303 rated visits, and convert restricted RGB videos into de-identified 2D pose sequences.

n = 44 children

Results

82.1%

model matched expert-adjudicated gross motor scores

n = 44 children

More results

We propose a privacy-preserving, skeleton-based framework to estimate visit-level GMFC-MLD scores from long, heterogeneous motor-assessment videos.

The model runs in real time on 2D skeletons and supports streaming inference, enabling potential on-device deployment without transmitting identifiable video.

“

Conclusion

De-identified data and code are released for reproducibility.

AI-Based Digital Assessment of Gross Motor Function in Metachromatic Leukodystrophy.

AI-Based Digital Assessment of Gross Motor Function in Metachromatic Leukodystrophy.

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