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Advancing Conversational Diagnostic AI with Multimodal Reasoning

arXiv.org Artificial Intelligence

Large Language Models (LLMs) have demonstrated great potential for conducting diagnostic conversations but evaluation has been largely limited to language-only interactions, deviating from the real-world requirements of remote care delivery. Instant messaging platforms permit clinicians and patients to upload and discuss multimodal medical artifacts seamlessly in medical consultation, but the ability of LLMs to reason over such data while preserving other attributes of competent diagnostic conversation remains unknown. Here we advance the conversational diagnosis and management performance of the Articulate Medical Intelligence Explorer (AMIE) through a new capability to gather and interpret multimodal data, and reason about this precisely during consultations. Leveraging Gemini 2.0 Flash, our system implements a state-aware dialogue framework, where conversation flow is dynamically controlled by intermediate model outputs reflecting patient states and evolving diagnoses. Follow-up questions are strategically directed by uncertainty in such patient states, leading to a more structured multimodal history-taking process that emulates experienced clinicians. We compared AMIE to primary care physicians (PCPs) in a randomized, blinded, OSCE-style study of chat-based consultations with patient actors. We constructed 105 evaluation scenarios using artifacts like smartphone skin photos, ECGs, and PDFs of clinical documents across diverse conditions and demographics. Our rubric assessed multimodal capabilities and other clinically meaningful axes like history-taking, diagnostic accuracy, management reasoning, communication, and empathy. Specialist evaluation showed AMIE to be superior to PCPs on 7/9 multimodal and 29/32 non-multimodal axes (including diagnostic accuracy). The results show clear progress in multimodal conversational diagnostic AI, but real-world translation needs further research.


PointExplainer: Towards Transparent Parkinson's Disease Diagnosis

arXiv.org Artificial Intelligence

A B S T R A C T Deep neural networks have shown potential in analyzing digitized hand-drawn signals for early diagnosis of Parkinson's disease. However, the lack of clear inter-pretability in existing diagnostic methods presents a challenge to clinical trust. In this paper, we propose PointExplainer, an explainable diagnostic strategy to identify hand-drawn regions that drive model diagnosis. Specifically, PointExplainer assigns discrete attribution values to hand-drawn segments, explicitly quantifying their relative contributions to the model's decision. Its key components include: (i) a diagnosis module, which encodes hand-drawn signals into 3D point clouds to represent hand-drawn trajectories, and (ii) an explanation module, which trains an interpretable surrogate model to approximate the local behavior of the black-box diagnostic model. We also introduce consistency measures to further address the issue of faithfulness in explanations. Extensive experiments on two benchmark datasets and a newly constructed dataset show that PointExplainer can provide intuitive explanations with no diagnostic performance degradation. Introduction Parkinson's disease (PD) is one of the most prevalent neurological disorders worldwide, leading to a decrease in functional, cognitive, and behavioral abilities [1, 10]. Despite the unclear etiology and lack of a cure, evidence indicates that early diagnosis, coupled with subsequent neuroprotective interventions, can significantly delay its progression [53]. Hand drawing is a common but complex human activity, requiring fine motor control and involving a sophisticated interplay of cognitive, sensory, and perceptual-motor functions [14]. Dysgraphia is recognized as a crucial biomarker in the early stages of PD [39]. Digitized hand-drawn analysis [6, 26], as a noninvasive and easily accessible biometric technology, has emerged as a promising computer-aided approach for diagnosing PD [23, 30, 22, 72, 47, 21].


Uncertainty-Aware Large Language Models for Explainable Disease Diagnosis

arXiv.org Artificial Intelligence

Explainable disease diagnosis, which leverages patient information (e.g., signs and symptoms) and computational models to generate probable diagnoses and reasonings, offers clear clinical values . However, when clinical notes encompass insufficient evidence for a definite diagnosis, such as the absence of definitive symptoms, diagnostic uncertainty usually arises, increasing the risk of misdiagnosis and adverse outcomes . Although explicitly identifying and explaining diagnostic uncertainties is essential for trustworthy diagnostic systems, it remains under -explored. To fill this gap, we introduce ConfiDx, an uncertainty - aware large language model (LLM) created by fine -tuning open-source LLMs with diagnostic criteria. We formalized the task and assembled richly annotated datasets that capture varying degrees of diagnostic ambiguity. Evaluating ConfiDx on real -world datasets demonstrated that it excelled in identifying diagnostic uncertainties, achieving superior diagnostic performance, and generating trustworthy explanations for diagnoses and uncertainties . To our knowledge, this is the first study to jointly address diagnostic uncertainty recognition and explanation, substantially enhancing the reliability of automatic diagnostic systems.


Global Task-aware Fault Detection, Identification For On-Orbit Multi-Spacecraft Collaborative Inspection

arXiv.org Artificial Intelligence

In this paper, we present a global-to-local task-aware fault detection and identification algorithm to detect failures in a multi-spacecraft system performing a collaborative inspection (referred to as global) task. The inspection task is encoded as a cost functional $\costH$ that informs global (task allocation and assignment) and local (agent-level) decision-making. The metric $\costH$ is a function of the inspection sensor model, and the agent full-pose. We use the cost functional $\costH$ to design a metric that compares the expected and actual performance to detect the faulty agent using a threshold. We use higher-order cost gradients $\costH$ to derive a new metric to identify the type of fault, including task-specific sensor fault, an agent-level actuator, and sensor faults. Furthermore, we propose an approach to design adaptive thresholds for each fault mentioned above to incorporate the time dependence of the inspection task. We demonstrate the efficacy of the proposed method empirically, by simulating and detecting faults (such as inspection sensor faults, actuators, and sensor faults) in a low-Earth orbit collaborative spacecraft inspection task using the metrics and the threshold designed using the global task cost $\costH$.


Robust Root Cause Diagnosis using In-Distribution Interventions

arXiv.org Artificial Intelligence

Diagnosing the root cause of an anomaly in a complex interconnected system is a pressing problem in today's cloud services and industrial operations. We propose In-Distribution Interventions (IDI), a novel algorithm that predicts root cause as nodes that meet two criteria: 1) **Anomaly:** root cause nodes should take on anomalous values; 2) **Fix:** had the root cause nodes assumed usual values, the target node would not have been anomalous. Prior methods of assessing the fix condition rely on counterfactuals inferred from a Structural Causal Model (SCM) trained on historical data. But since anomalies are rare and fall outside the training distribution, the fitted SCMs yield unreliable counterfactual estimates. IDI overcomes this by relying on interventional estimates obtained by solely probing the fitted SCM at in-distribution inputs. We present a theoretical analysis comparing and bounding the errors in assessing the fix condition using interventional and counterfactual estimates. We then conduct experiments by systematically varying the SCM's complexity to demonstrate the cases where IDI's interventional approach outperforms the counterfactual approach and vice versa. Experiments on both synthetic and PetShop RCD benchmark datasets demonstrate that \our\ consistently identifies true root causes more accurately and robustly than nine existing state-of-the-art RCD baselines. Code is released at https://github.com/nlokeshiisc/IDI_release.


RFK Jr. said his agency will find the cause of autism. These researchers have actually been looking

Los Angeles Times

The annual meeting of the International Society for Autism Research took place in Seattle this week. The field's premiere scientific conference was scheduled to be held in the Emerald City five years ago, until COVID-19 dashed those plans. This time, U.S. autism researchers face a very different kind of crisis: massive cuts to federal funding, Cabinet members making false statements about the complex neurological condition they study, and a series of confusing and potentially worrisome policy announcements about autism research. In April, the U.S. Department of Health and Human Services disclosed that it's planning a 50-million "comprehensive research effort aimed at understanding the causes of [autism spectrum disorder] and improving treatments," a department spokesperson said. The effort was spurred by Secretary Robert F. Kennedy Jr.'s stated goal of determining the cause of autism, a neurological and developmental condition whose symptoms cluster around challenges with communication, social interaction and sensory processing.


Multi-Domain Causal Discovery in Bijective Causal Models

arXiv.org Artificial Intelligence

We consider the problem of causal discovery (a.k.a., causal structure learning) in a multi-domain setting. We assume that the causal functions are invariant across the domains, while the distribution of the exogenous noise may vary. Under causal sufficiency (i.e., no confounders exist), we show that the causal diagram can be discovered under less restrictive functional assumptions compared to previous work. What enables causal discovery in this setting is bijective generation mechanisms (BGM), which ensures that the functional relation between the exogenous noise $E$ and the endogenous variable $Y$ is bijective and differentiable in both directions at every level of the cause variable $X = x$. BGM generalizes a variety of models including additive noise model, LiNGAM, post-nonlinear model, and location-scale noise model. Further, we derive a statistical test to find the parents set of the target variable. Experiments on various synthetic and real-world datasets validate our theoretical findings.


Temporal Entailment Pretraining for Clinical Language Models over EHR Data

arXiv.org Artificial Intelligence

Clinical language models have achieved strong performance on downstream tasks by pretraining on domain specific corpora such as discharge summaries and medical notes. However, most approaches treat the electronic health record as a static document, neglecting the temporally-evolving and causally entwined nature of patient trajectories. In this paper, we introduce a novel temporal entailment pretraining objective for language models in the clinical domain. Our method formulates EHR segments as temporally ordered sentence pairs and trains the model to determine whether a later state is entailed by, contradictory to, or neutral with respect to an earlier state. Through this temporally structured pretraining task, models learn to perform latent clinical reasoning over time, improving their ability to generalize across forecasting and diagnosis tasks. We pretrain on a large corpus derived from MIMIC IV and demonstrate state of the art results on temporal clinical QA, early warning prediction, and disease progression modeling.


A Survey on Small Sample Imbalance Problem: Metrics, Feature Analysis, and Solutions

arXiv.org Artificial Intelligence

The small sample imbalance (S&I) problem is a major challenge in machine learning and data analysis. It is characterized by a small number of samples and an imbalanced class distribution, which leads to poor model performance. In addition, indistinct inter-class feature distributions further complicate classification tasks. Existing methods often rely on algorithmic heuristics without sufficiently analyzing the underlying data characteristics. We argue that a detailed analysis from the data perspective is essential before developing an appropriate solution. Therefore, this paper proposes a systematic analytical framework for the S\&I problem. We first summarize imbalance metrics and complexity analysis methods, highlighting the need for interpretable benchmarks to characterize S&I problems. Second, we review recent solutions for conventional, complexity-based, and extreme S&I problems, revealing methodological differences in handling various data distributions. Our summary finds that resampling remains a widely adopted solution. However, we conduct experiments on binary and multiclass datasets, revealing that classifier performance differences significantly exceed the improvements achieved through resampling. Finally, this paper highlights open questions and discusses future trends.


Human-aligned Deep Learning: Explainability, Causality, and Biological Inspiration

arXiv.org Artificial Intelligence

This work aligns deep learning (DL) with human reasoning capabilities and needs to enable more efficient, interpretable, and robust image classification. We approach this from three perspectives: explainability, causality, and biological vision. Introduction and background open this work before diving into operative chapters. First, we assess neural networks' visualization techniques for medical images and validate an explainable-by-design method for breast mass classification. A comprehensive review at the intersection of XAI and causality follows, where we introduce a general scaffold to organize past and future research, laying the groundwork for our second perspective. In the causality direction, we propose novel modules that exploit feature co-occurrence in medical images, leading to more effective and explainable predictions. We further introduce CROCODILE, a general framework that integrates causal concepts, contrastive learning, feature disentanglement, and prior knowledge to enhance generalization. Lastly, we explore biological vision, examining how humans recognize objects, and propose CoCoReco, a connectivity-inspired network with context-aware attention mechanisms. Overall, our key findings include: (i) simple activation maximization lacks insight for medical imaging DL models; (ii) prototypical-part learning is effective and radiologically aligned; (iii) XAI and causal ML are deeply connected; (iv) weak causal signals can be leveraged without a priori information to improve performance and interpretability; (v) our framework generalizes across medical domains and out-of-distribution data; (vi) incorporating biological circuit motifs improves human-aligned recognition. This work contributes toward human-aligned DL and highlights pathways to bridge the gap between research and clinical adoption, with implications for improved trust, diagnostic accuracy, and safe deployment.