Multi-Phonation Graph Learning with Self-Supervised Speech Embeddings for ALS Detection and Progression Prediction

Spontaneous speech is a vital non-invasive biomarker for Alzheimer's Disease (AD), yet many systems overlook non-linear structural disruptions and clinical heterogeneity in pathological language. We propose a Multi-View Gated Graph Attention Network that transcribes audio via Automatic Speech Recognition (ASR) to construct semantic, dependency, and co-occurrence graphs, characterizing speech through a "content-structure-flow" framework. Notably, the co-occurrence graph leverages Pointwise Mutual Information (PMI) from a normative corpus to quantify narrative logic and linguistic deviation. To address symptomatic diversity, an adaptive gated fusion mechanism dynamically integrates these views. Evaluated on the ADReSSo dataset, our model achieves 90.00% accuracy. Ablation results confirm that the PMI-based graph and heterogeneity-aware gating are essential for robust classification across diverse clinical populations. Our source code is publicly available at https://github.com/opeacc/AD.

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease in which early assessment remains challenging, particularly in low-resource settings where MRI is often unavailable. High-resolution ultrasound (HRUS) of the tongue offers a portable and low-cost alternative for evaluating bulbar involvement, but learning reliable diagnostic models is limited by small datasets and the difficulty of extracting robust representations from ultrasound alone. We propose AlignUS, a cross-modal knowledge distillation framework that transfers anatomical knowledge from MRI to a HRUS-based classifier while requiring only HRUS at inference time. The model combines classification loss, supervised contrastive learning, and feature-level distillation to align HRUS representations with MRI embeddings. AlignUS achieves a patient-level balanced accuracy of 0.958, macro-F1 of 0.963, and ROC-AUC of 0.990, aggregated across four patient-level cross-validation folds, with consistent improvements over HRUS baselines and cross-modal alternatives. These results demonstrate that MRI-derived supervision can substantially improve ultrasound-based ALS assessment while preserving low-cost, inference-time independence from MRI.

Self-supervised learning (SSL) speech representations achieve strong performance for Parkinson's disease (PD) detection within individual corpora. However, it remains unclear whether these models capture disease-related characteristics or exploit dataset-specific confounds, particularly since most SSL backbones are pretrained exclusively on healthy speech. To investigate this question, we perform a layer-wise analysis of nine SSL speech backbones using a low-capacity logistic regression probe across three languages. We structure the evaluation as multiple scenarios that progressively introduce distribution shifts in participant identity, recording conditions, language, and pathology. Our results reveal two key findings. First, layer selection is highly corpus-dependent: the optimal representation layer is determined primarily by the source dataset rather than by the SSL architecture itself. Second, the transferred discriminative signal lacks pathological specificity: classifiers trained to detect PD assign similarly high probabilities to both PD and dementia speech in the target corpus. These results highlight critical limitations that must be addressed before speech-based pathology recognition models can be reliably deployed in clinical settings.