LLM-MINE: Large Language Model based Alzheimer's Disease and Related Dementias Phenotypes Mining from Clinical Notes

Clinical information for amyotrophic lateral sclerosis (ALS) care documented in unstructured clinical notes limits downstream analysis without extraction into structured formats. Open-source small language models with few-shot prompting for detecting the presence of ALS-relevant clinical terms in patient documentation were evaluated without task-specific training data. The detection task targeted 17 categories spanning functional scores, respiratory measures, medications, and related clinical and non-clinical attributes. Clinical note content was normalized from JSON-encoded discharge summaries and processed with a prompt template having structured JSON outputs. We compared 26 open-source models using aggregate, label-level, and manual-validation multilabel classification metrics. Manual validation showed that a regex rule baseline had higher overall micro-F1 and lower Hamming loss than any single SLM or TF-IDF baseline, while Qwen3-4B-Instruct-2507 was the highest-performing SLM by micro-F1. Model rankings varied by metric and label category, with the TF-IDF baseline showing high recall but low precision, some SLMs showing higher precision but lower recall, and Hammer2.1-7b showing strong performance for ALSFRS-R subscore detection. These findings support targeted hybrid extraction workflows rather than replacement of existing rule-based methods.

Speech-based automatic detection of Alzheimer's disease (AD) provides a non-invasive and scalable approach to early cognitive screening. AD affects both lexical-semantic organization and speech production, including atypical pauses and word elongations. However, existing methods have yet to fully integrate these paralinguistic cues with linguistic content. We propose LLM-Anchored Paralinguistic Enrichment (LAPE), which enriches LLM-derived linguistic representations with paralinguistic cues through three coordinated innovations. The first is prosodic event textualization, which enables the LLM to model pauses and elongations jointly with lexical content by encoding them as explicit markers with bounded duration-aware repetition. The second is lexico-prosodic unitization and chunking, which preserves event identity and magnitude in both modalities by pooling only consecutive word units. The third is text-anchored paralinguistic fusion, which integrates local and utterance-level speech features by using NormGate to normalize and dynamically scale them relative to text. We evaluate LAPE on ADReSS and ADReSSo using participant-level cross-validation and leave-one-subject-out evaluation. LAPE achieves state-of-the-art performance across all four primary settings. Code will be released upon acceptance.

Early diagnosis of Alzheimer's disease (AD) is critical for enabling timely interventions that may slow disease progression and improve patient outcomes. There is a growing need for AD detection methods that are non-invasive and cost-effective, especially in real-world clinical settings with diverse patient populations and recording conditions. Speech-based screening addresses these needs by using natural speech collected without specialized equipment. Recent advances in large language models (LLMs) have improved speech analysis by providing rich linguistic representations and strong generalization. In this study, we propose LSEAD, a speech-based AD detection framework using pretrained open-source LLMs. Speech recordings are automatically transcribed, and text embeddings are extracted using locally deployed LLMs. Principal component analysis (PCA) is applied to reduce dimensionality before classification. Because the framework relies only on speech transcripts and locally deployed models, it supports privacy-preserving AD risk assessment without external data exchange. We evaluate LSEAD on the ADReSS20 and ADReSSo2021 benchmark datasets. Experimental results show that LLM-based embeddings generalize well across datasets and improve AD classification accuracy by up to 5 percent over existing methods, especially for early-stage detection. These results demonstrate that LSEAD provides a practical, secure, and scalable approach for early AD screening.