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Artificial Intelligence and Pattern Recognition Methods for the Automatic Detection...
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Artificial Intelligence and Pattern Recognition Methods for the Automatic Detection and Evaluation of Neurological Disorders, 2nd Edition

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Machine Learning and Artificial Intelligence in Diagnostics".

Deadline for manuscript submissions: 30 November 2025 | Viewed by 6670

Special Issue Editor

Prof. Dr. Juan Rafael Orozco-Arroyave

E-Mail Website
Guest Editor
1. GITA Lab, Faculty of Engineering, University of Antioquia, Medellín, Colombia
2. Pattern Recognition Lab, Friedrich-Alexander-University Erlangen–Nuremberg, Erlangen, Germany
Interests: computer science; artificial intelligence; signals processing; biomedical engineering; speech processing
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue focuses on novel studies about neurodegeneration, which is a major problem worldwide. It is estimated that about 50 million people suffer from neurodegenerative diseases, and the number is expected to increase to 115 million by 2050. This Special Issue is focused on contributions addressing two of the main challenges that exist when studying neurodegeneration: (i) diagnosis and (ii) monitoring.

The development of modern methods in machine learning and pattern recognition has enabled the possibility of performing accurate and non-intrusive detection and monitoring of different diseases, considering the different sources of information, including speech production, language, movement, gait, handwriting, video, neural activity (EEG, electroenvephalography), and others. The use of information from these biosignals together with the development of classical and/or modern machine learning and deep learning algorithms is welcomed.

This Special Issue will focus on, but is not limited to, the following topics:

    Classical and modern machine learning methods to detect and monitor neurodegenerative diseases;

    Methods to classify different neurodegenerative diseases;

    Monitoring of disease progression;

    Evaluation of different treatment strategies, e.g., medication intake, therapy, and others;

Non-intrusive evaluation and monitoring of neurodegenerative disorders.

Prof. Dr. Juan Rafael Orozco-Arroyave
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diagnostics is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • machine learning
  • neurodegenerative diseases
  • diagnosis
  • detection and evaluation
  • monitoring

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Related Special Issue

Published Papers (6 papers)

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Research

32 pages, 3541 KiB  
Article
Robust Autism Spectrum Disorder Screening Based on Facial Images (For Disability Diagnosis): A Domain-Adaptive Deep Ensemble Approach
by Mohammad Shafiul Alam, Muhammad Mahbubur Rashid, Ahmad Jazlan, Md Eshrat E. Alahi, Mohamed Kchaou and Khalid Ayed B. Alharthi
Diagnostics 2025, 15(13), 1601; https://doi.org/10.3390/diagnostics15131601 - 24 Jun 2025
Viewed by 500
Abstract
Background/Objectives: Artificial intelligence (AI) is revolutionising healthcare for people with disabilities, including those with autism spectrum disorder (ASD), in the era of advanced technology. This work explicitly addresses the challenges posed by inconsistent data from various sources by developing and evaluating a [...] Read more.
Background/Objectives: Artificial intelligence (AI) is revolutionising healthcare for people with disabilities, including those with autism spectrum disorder (ASD), in the era of advanced technology. This work explicitly addresses the challenges posed by inconsistent data from various sources by developing and evaluating a robust deep ensemble learning system for the accurate and reliable classification of autism spectrum disorder (ASD) based on facial images. Methods: We created a system that learns from two publicly accessible datasets of ASD images (Kaggle and YTUIA), each with unique demographics and image characteristics. Utilising a weighted ensemble strategy (FPPR), our innovative ASD-UANet ensemble combines the Xception and ResNet50V2 models to maximise model contributions. This methodology underwent extensive testing on a range of groups stratified by age and gender, including a critical assessment of an unseen, real-time dataset (UIFID) to determine how well it generalised to new domains. Results: The performance of the ASD-UANet ensemble was consistently better. It significantly outperformed individual transfer learning models (e.g., Xception alone on T1+T2 yielded an accuracy of 83%), achieving an impressive 96.0% accuracy and an AUC of 0.990 on the combined-domain dataset (T1+T2). Notably, the ASD-UANet ensemble demonstrated strong generalisation on the unseen real-time dataset (T3), achieving 90.6% accuracy and an AUC of 0.930. This demonstrates how well it generalises to new data distributions. Conclusions: Our findings demonstrate significant potential for widespread, equitable, and clinically beneficial ASD screening using this promising, reasonably priced, and non-invasive method. This study establishes the foundation for more precise diagnoses and greater inclusion for people with autism spectrum disorder (ASD) by integrating methods for diverse data and combining deep learning models. Full article
(This article belongs to the Special Issue Artificial Intelligence and Pattern Recognition Methods for the Automatic Detection and Evaluation of Neurological Disorders, 2nd Edition)
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20 pages, 1146 KiB  
Article
Fuzzy Optimized Attention Network with Multi-Instance Deep Learning (FOAN-MIDL) for Alzheimer’s Disease Diagnosis with Structural Magnetic Resonance Imaging (sMRI)
by Afnan M. Alhassan and Nouf I. Altmami
Diagnostics 2025, 15(12), 1516; https://doi.org/10.3390/diagnostics15121516 - 14 Jun 2025
Viewed by 382
Abstract
Background/Objectives: Alzheimer’s disease (AD) is the leading cause of dementia and is characterized by progressive neurodegeneration, resulting in cognitive impairment and structural brain changes. Although no curative treatment exists, pharmacological therapies like cholinesterase inhibitors and NMDA receptor antagonists may deliver symptomatic relief and [...] Read more.
Background/Objectives: Alzheimer’s disease (AD) is the leading cause of dementia and is characterized by progressive neurodegeneration, resulting in cognitive impairment and structural brain changes. Although no curative treatment exists, pharmacological therapies like cholinesterase inhibitors and NMDA receptor antagonists may deliver symptomatic relief and modestly delay disease progression. Structural magnetic resonance imaging (sMRI) is a commonly utilized modality for the diagnosis of brain neurological diseases and may indicate abnormalities. However, improving the recognition of discriminative characteristics is the primary difficulty in diagnosis utilizing sMRI. Methods: To tackle this problem, the Fuzzy Optimized Attention Network with Multi-Instance Deep Learning (FOA-MIDL) system is presented for the prodromal phase of mild cognitive impairment (MCI) and the initial detection of AD. Results: An attention technique to estimate the weight of every case is presented: the fuzzy salp swarm algorithm (FSSA). The swarming actions of salps in oceans serve as the inspiration for the FSSA. When moving, the nutrient gradients influence the movement of leading salps during global search exploration, while the followers fully explore their local environment to adjust the classifiers’ parameters. To balance the relative contributions of every patch and produce a global distinct weighted image for the entire brain framework, the attention multi-instance learning (MIL) pooling procedure is developed. Attention-aware global classifiers are presented to improve the understanding of the integral characteristics and form judgments for AD-related categorization. The Alzheimer’s Disease Neuroimaging Initiative (ADNI) and the Australian Imaging, Biomarker, and Lifestyle Flagship Study on Ageing (AIBL) provided the two datasets (ADNI and AIBL) utilized in this work. Conclusions: Compared to many cutting-edge techniques, the findings demonstrate that the FOA-MIDL system may determine discriminative pathological areas and offer improved classification efficacy in terms of sensitivity (SEN), specificity (SPE), and accuracy. Full article
(This article belongs to the Special Issue Artificial Intelligence and Pattern Recognition Methods for the Automatic Detection and Evaluation of Neurological Disorders, 2nd Edition)
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20 pages, 4694 KiB  
Article
A Comparative Study of Machine Learning and Deep Learning Models for Automatic Parkinson’s Disease Detection from Electroencephalogram Signals
by Sankhadip Bera, Zong Woo Geem, Young-Im Cho and Pawan Kumar Singh
Diagnostics 2025, 15(6), 773; https://doi.org/10.3390/diagnostics15060773 - 19 Mar 2025
Cited by 1 | Viewed by 1146
Abstract
Background: Parkinson’s disease (PD) is one of the most prevalent, widespread, and intricate neurodegenerative disorders. According to the experts, at least 1% of people over the age of 60 are affected worldwide. In the present time, the early detection of PD remains difficult [...] Read more.
Background: Parkinson’s disease (PD) is one of the most prevalent, widespread, and intricate neurodegenerative disorders. According to the experts, at least 1% of people over the age of 60 are affected worldwide. In the present time, the early detection of PD remains difficult due to the absence of a clear consensus on its brain characterization. Therefore, there is an urgent need for a more reliable and efficient technique for early detection of PD. Using the potential of electroencephalogram (EEG) signals, this study introduces an innovative method for the detection or classification of PD patients through machine learning, as well as a more accurate deep learning approach. Methods: We propose an innovative EEG-based PD detection approach by integrating advanced spectral feature engineering with machine learning and deep learning models. Using (a) the UC San Diego Resting State EEG dataset and (b) IOWA dataset, we extract a standardized EEG feature from five key frequency bands—alpha, beta, theta, gamma, delta (α,β,θ,γ,δ) and employ an SVM (Support Vector Machine) classifier as a baseline, achieving a notable accuracy. Furthermore, we implement a deep learning classifier (CNN) with a complex multi-dimensional feature set by combining power values from all frequency bands, which gives superior performance in distinguishing PD patients (both with medication and without medication states) from healthy patients. Results: With the five-fold cross-validation on these two datasets, our approaches successfully achieve promising results in a subject dependent scenario. The SVM classifier achieves competitive accuracies of 82% and 94% in the UC San Diego Resting State EEG dataset (using gamma band) and IOWA dataset, respectively in distinguishing PD patients from non-PD patients in subject. With the CNN classifier, our model is able to capture major cross-frequency dependencies of EEG; therefore, the classification accuracies reach beyond 96% and 99% with those two datasets, respectively. We also perform our experiments in a subject independent environment, where the SVM generates 68.09% accuracy. Conclusions: Our findings, coupled with advanced feature extraction and deep learning, have the potential to provide a non-invasive, efficient, and reliable approach for diagnosing PD, with further work aimed at enhancing feature sets, inclusion of a large number of subjects, and improving model generalizability across more diverse environments. Full article
(This article belongs to the Special Issue Artificial Intelligence and Pattern Recognition Methods for the Automatic Detection and Evaluation of Neurological Disorders, 2nd Edition)
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22 pages, 1795 KiB  
Article
Early Diagnosis of Alzheimer’s Disease in Human Participants Using EEGConformer and Attention-Based LSTM During the Short Question Task
by Seul-Kee Kim, Jung Bin Kim, Hayom Kim, Laehyun Kim and Sang Hee Kim
Diagnostics 2025, 15(4), 448; https://doi.org/10.3390/diagnostics15040448 - 12 Feb 2025
Viewed by 1338
Abstract
Background/Objectives: Alzheimer’s disease (AD) is a progressive neurodegenerative disorder advancing through subjective cognitive decline (SCD), mild cognitive impairment (MCI), and dementia, making early diagnosis crucial. Electroencephalography (EEG) is a non-invasive, cost-effective alternative to advanced neuroimaging for detecting early neural changes. While most [...] Read more.
Background/Objectives: Alzheimer’s disease (AD) is a progressive neurodegenerative disorder advancing through subjective cognitive decline (SCD), mild cognitive impairment (MCI), and dementia, making early diagnosis crucial. Electroencephalography (EEG) is a non-invasive, cost-effective alternative to advanced neuroimaging for detecting early neural changes. While most studies focus on resting-state EEG or handcrafted features with traditional machine learning, deep learning (DL) offers a promising tool for automated EEG analysis. This study classified the AD spectrum (SCD, MCI, AD) using EEG recorded during resting-state and task-based conditions. Specifically, EEG was recorded during a simple yes/no question-answering task, mimicking everyday cognitive activities, and was explored. We hypothesized that brain activity during tasks involving listening, comprehension, and response execution provides diagnostic insights. Methods: We collected 1 min of resting-state EEG and approximately 3 min of task-based EEG from 20, 28, and 10 participants with SCD, MCI, and AD, respectively. Task data included response accuracy and reaction time. After minimal preprocessing, two DL models, attention long short-term memory and EEGConformer, were used for binary (e.g., SCD vs. MCI) and three-class (SCD, MCI, AD) classification. Results: Task-based EEG outperformed resting-state EEG, with a 5–15% improvement in accuracy. The area under the curve (AUC) results consistently demonstrated superior classification performance for task-based EEG compared to resting-state EEG across all group distinctions. No significant performance difference was observed between the two DL models. Conclusions: We proposed a cognitive task-based approach for early AD spectrum diagnosis via EEG, offering greater accuracy by leveraging advanced DL models. Full article
(This article belongs to the Special Issue Artificial Intelligence and Pattern Recognition Methods for the Automatic Detection and Evaluation of Neurological Disorders, 2nd Edition)
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14 pages, 321 KiB  
Article
Synchronous Analysis of Speech Production and Lips Movement to Detect Parkinson’s Disease Using Deep Learning Methods
by Cristian David Ríos-Urrego, Daniel Escobar-Grisales and Juan Rafael Orozco-Arroyave
Diagnostics 2025, 15(1), 73; https://doi.org/10.3390/diagnostics15010073 - 31 Dec 2024
Viewed by 786
Abstract
Background/Objectives: Parkinson’s disease (PD) affects more than 6 million people worldwide. Its accurate diagnosis and monitoring are key factors to reduce its economic burden. Typical approaches consider either speech signals or video recordings of the face to automatically model abnormal patterns in PD [...] Read more.
Background/Objectives: Parkinson’s disease (PD) affects more than 6 million people worldwide. Its accurate diagnosis and monitoring are key factors to reduce its economic burden. Typical approaches consider either speech signals or video recordings of the face to automatically model abnormal patterns in PD patients. Methods: This paper introduces, for the first time, a new methodology that performs the synchronous fusion of information extracted from speech recordings and their corresponding videos of lip movement, namely the bimodal approach. Results: Our results indicate that the introduced method is more accurate and suitable than unimodal approaches or classical asynchronous approaches that combine both sources of information but do not incorporate the underlying temporal information. Conclusions: This study demonstrates that using a synchronous fusion strategy with concatenated projections based on attention mechanisms, i.e., speech-to-lips and lips-to-speech, exceeds previous results reported in the literature. Complementary information between lip movement and speech production is confirmed when advanced fusion strategies are employed. Finally, multimodal approaches, combining visual and speech signals, showed great potential to improve PD classification, generating more confident and robust models for clinical diagnostic support. Full article
(This article belongs to the Special Issue Artificial Intelligence and Pattern Recognition Methods for the Automatic Detection and Evaluation of Neurological Disorders, 2nd Edition)
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29 pages, 3202 KiB  
Article
Gait-Based AI Models for Detecting Sarcopenia and Cognitive Decline Using Sensor Fusion
by Rocío Aznar-Gimeno, Jose Luis Perez-Lasierra, Pablo Pérez-Lázaro, Irene Bosque-López, Marina Azpíroz-Puente, Pilar Salvo-Ibáñez, Martin Morita-Hernandez, Ana Caren Hernández-Ruiz, Antonio Gómez-Bernal, María de la Vega Rodrigalvarez-Chamarro, José-Víctor Alfaro-Santafé, Rafael del Hoyo-Alonso and Javier Alfaro-Santafé
Diagnostics 2024, 14(24), 2886; https://doi.org/10.3390/diagnostics14242886 - 22 Dec 2024
Viewed by 1874
Abstract
Background/Objectives: Sarcopenia and cognitive decline (CD) are prevalent in aging populations, impacting functionality and quality of life. The early detection of these diseases is challenging, often relying on in-person screening, which is difficult to implement regularly. This study aims to develop artificial [...] Read more.
Background/Objectives: Sarcopenia and cognitive decline (CD) are prevalent in aging populations, impacting functionality and quality of life. The early detection of these diseases is challenging, often relying on in-person screening, which is difficult to implement regularly. This study aims to develop artificial intelligence algorithms based on gait analysis, integrating sensor and computer vision (CV) data, to detect sarcopenia and CD. Methods: A cross-sectional case-control study was conducted involving 42 individuals aged 60 years or older. Participants were classified as having sarcopenia if they met the criteria established by the European Working Group on Sarcopenia in Older People and as having CD if their score in the Mini-Mental State Examination was ≤24 points. Gait patterns were assessed at usual walking speeds using sensors attached to the feet and lumbar region, and CV data were captured using a camera. Several key variables related to gait dynamics were extracted. Finally, machine learning models were developed using these variables to predict sarcopenia and CD. Results: Models based on sensor data, CV data, and a combination of both technologies achieved high predictive accuracy, particularly for CD. The best model for CD achieved an F1-score of 0.914, with a 95% sensitivity and 92% specificity. The combined technologies model for sarcopenia also demonstrated high performance, yielding an F1-score of 0.748 with a 100% sensitivity and 83% specificity. Conclusions: The study demonstrates that gait analysis through sensor and CV fusion can effectively screen for sarcopenia and CD. The multimodal approach enhances model accuracy, potentially supporting early disease detection and intervention in home settings. Full article
(This article belongs to the Special Issue Artificial Intelligence and Pattern Recognition Methods for the Automatic Detection and Evaluation of Neurological Disorders, 2nd Edition)
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