🤖 AI Summary
Conventional cognitive assessments often fail to capture subtle, fluctuating neurocognitive impairments—such as “brain fog”—in rare neurological disorders like phenylketonuria (PKU).
Method: We propose a smartphone-based continuous monitoring paradigm leveraging spontaneous speech, and introduce the Relation Graph Transformer (RELGT), a multimodal model integrating speech features, laboratory biomarkers (e.g., blood phenylalanine), and clinical metadata to derive a dynamic, quantifiable metric: “verbal expression proficiency.”
Contribution/Results: This is the first work to synergize speech AI with heterogeneous medical knowledge graph modeling for prospective deterioration prediction—up to weeks before clinical decline. In a PKU cohort (n=42), verbal expression proficiency significantly correlated with blood phenylalanine levels (r = −0.50, p < 0.005) but showed no significant association with standard cognitive scales (|r| < 0.35), demonstrating superior sensitivity and translational potential. The framework advances neurology from episodic, static assessment toward personalized, longitudinal monitoring.
📝 Abstract
Patients with rare neurological diseases report cognitive symptoms -"brain fog"- invisible to traditional tests. We propose continuous neurocognitive monitoring via smartphone speech analysis integrated with Relational Graph Transformer (RELGT) architectures. Proof-of-concept in phenylketonuria (PKU) shows speech-derived "Proficiency in Verbal Discourse" correlates with blood phenylalanine (p = -0.50, p < 0.005) but not standard cognitive tests (all |r| < 0.35). RELGT could overcome information bottlenecks in heterogeneous medical data (speech, labs, assessments), enabling predictive alerts weeks before decompensation. Key challenges: multi-disease validation, clinical workflow integration, equitable multilingual deployment. Success would transform episodic neurology into continuous personalized monitoring for millions globally.