A study of 140,000 people suggests that a broadening of the diagnostic criteria for autism and ADHD explains the sharp rise in diagnoses, but that doesn't mean too many people are being told they are autistic or have ADHD We may be beginning to understand what is behind the recent explosion in diagnoses of ADHD and autism . A study of 140,000 people in Denmark reveals that those recently diagnosed with ADHD or autism have fewer genetic variations associated with them than people diagnosed a decade earlier. This suggests that a broadening of the diagnostic criteria is behind the rise, but it doesn't support claims that ADHD and autism are being overdiagnosed. Diagnoses for autism and ADHD have risen up to tenfold around the world over the past two decades, particularly among girls and adults. Several possibilities have been put forward to explain this, including better awareness and understanding, a broadening of the diagnostic criteria, and even the commercial interests of pharmaceutical companies and private diagnostic clinics.

Mental health disorders, particularly cognitive disorders defined by deficits in cognitive abilities, are described in detail in the DSM-5, which includes definitions and examples of signs and symptoms. A simplified, machine-actionable representation was developed to assess the similarity and separability of these disorders, but it is not suited for the most complex cases. Generating or applying a full binary matrix for similarity calculations is infeasible due to the vast number of symptom combinations. This research develops an alternative representation that links the narrative form of the DSM-5 with the binary matrix representation and enables automated generation of valid symptom combinations. Using a strict pre-defined format of lists, sets, and numbers with slight variations, complex diagnostic pathways involving numerous symptom combinations can be represented. This format, called the symptom profile generator (or simply generator), provides a readable, adaptable, and comprehensive alternative to a binary matrix while enabling easy generation of symptom combinations (profiles). Cognitive disorders, which typically involve multiple diagnostic criteria with several symptoms, can thus be expressed as lists of generators. Representing several psychotic disorders in generator form and generating all symptom combinations showed that matrix representations of complex disorders become too large to manage. The MPCS (maximum pairwise cosine similarity) algorithm cannot handle matrices of this size, prompting the development of a profile reduction method using targeted generator manipulation to find specific MPCS values between disorders. The generators allow easier creation of binary representations for large matrices and make it possible to calculate specific MPCS cases between complex disorders through conditional generators.

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.

Automated chest radiographs interpretation requires both accurate disease classification and detailed radiology report generation, presenting a significant challenge in the clinical workflow. Current approaches either focus on classification accuracy at the expense of interpretability or generate detailed but potentially unreliable reports through image captioning techniques. In this study, we present RadAlign, a novel framework that combines the predictive accuracy of vision-language models (VLMs) with the reasoning capabilities of large language models (LLMs). Inspired by the radiologist's workflow, RadAlign first employs a specialized VLM to align visual features with key medical concepts, achieving superior disease classification with an average AUC of 0.885 across multiple diseases. These recognized medical conditions, represented as text-based concepts in the aligned visual-language space, are then used to prompt LLM-based report generation. Enhanced by a retrieval-augmented generation mechanism that grounds outputs in similar historical cases, RadAlign delivers superior report quality with a GREEN score of 0.678, outperforming state-of-the-art methods' 0.634. Our framework maintains strong clinical interpretability while reducing hallucinations, advancing automated medical imaging and report analysis through integrated predictive and generative AI. Code is available at https://github.com/difeigu/RadAlign.

We propose a clinical decision support system (CDSS) for mental health diagnosis that combines the strengths of large language models (LLMs) and constraint logic programming (CLP). Having a CDSS is important because of the high complexity of diagnostic manuals used by mental health professionals and the danger of diagnostic errors. Our CDSS is a software tool that uses an LLM to translate diagnostic manuals to a logic program and solves the program using an off-the-shelf CLP engine to query a patient's diagnosis based on the encoded rules and provided data. By giving domain experts the opportunity to inspect the LLM-generated logic program, and making modifications when needed, our CDSS ensures that the diagnosis is not only accurate but also interpretable. We experimentally compare it with two baseline approaches of using LLMs: diagnosing patients using the LLM-only approach, and using the LLM-generated logic program but without expert inspection. The results show that, while LLMs are extremely useful in generating candidate logic programs, these programs still require expert inspection and modification to guarantee faithfulness to the official diagnostic manuals. Additionally, ethical concerns arise from the direct use of patient data in LLMs, underscoring the need for a safer hybrid approach like our proposed method.

Although explainability is essential in the clinical diagnosis, most deep learning models still function as black boxes without elucidating their decision-making process. In this study, we investigate the explainable model development that can mimic the decision-making process of human experts by fusing the domain knowledge of explicit diagnostic criteria. We introduce a simple yet effective framework, Explicd, towards Explainable language-informed criteria-based diagnosis. Explicd initiates its process by querying domain knowledge from either large language models (LLMs) or human experts to establish diagnostic criteria across various concept axes (e.g., color, shape, texture, or specific patterns of diseases). By leveraging a pretrained vision-language model, Explicd injects these criteria into the embedding space as knowledge anchors, thereby facilitating the learning of corresponding visual concepts within medical images. The final diagnostic outcome is determined based on the similarity scores between the encoded visual concepts and the textual criteria embeddings. Through extensive evaluation of five medical image classification benchmarks, Explicd has demonstrated its inherent explainability and extends to improve classification performance compared to traditional black-box models.

However, due to a lack of mental health awareness and fear of stigma, many patients do not actively seek diagnosis and treatment, leading to detrimental outcomes. Depression detection aims to determine whether an individual suffers from depression by analyzing their history of posts on social media, which can significantly aid in early detection and intervention. It mainly faces two key challenges: 1) it requires professional medical knowledge, and 2) it necessitates both high accuracy and explainability. To address it, we propose a novel depression detection system called DORIS, combining medical knowledge and the recent advances in large language models (LLMs). Specifically, to tackle the first challenge, we proposed an LLM-based solution to first annotate whether high-risk texts meet medical diagnostic criteria. Further, we retrieve texts with high emotional intensity and summarize critical information from the historical mood records of users, so-called mood courses. To tackle the second challenge, we combine LLM and traditional classifiers to integrate medical knowledge-guided features, for which the model can also explain its prediction results, achieving both high accuracy and explainability. Extensive experimental results on benchmarking datasets show that, compared to the current best baseline, our approach improves by 0.036 in AUPRC, which can be considered significant, demonstrating the effectiveness of our approach and its high value as an NLP application.

Cardiovascular diseases (CVDs) are a group of heart and blood vessel disorders that is one of the most serious dangers to human health, and the number of such patients is still growing. Early and accurate detection plays a key role in successful treatment and intervention. Electrocardiogram (ECG) is the gold standard for identifying a variety of cardiovascular abnormalities. In clinical practices and most of the current research, standard 12-lead ECG is mainly used. However, using a lower number of leads can make ECG more prevalent as it can be conveniently recorded by portable or wearable devices. In this research, we develop a novel deep learning system to accurately identify multiple cardiovascular abnormalities by using only three ECG leads.

Characterizing a patient's progression through stages of sepsis is critical for enabling risk stratification and adaptive, personalized treatment. However, commonly used sepsis diagnostic criteria fail to account for significant underlying heterogeneity, both between patients as well as over time in a single patient. We introduce a hidden Markov model of sepsis progression that explicitly accounts for patient heterogeneity. Benchmarked against two sepsis diagnostic criteria, the model provides a useful tool to uncover a patient's latent sepsis trajectory and to identify high-risk patients in whom more aggressive therapy may be indicated.