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Assessment and Diagnosis of Cognitive Disorders

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A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Medical Imaging and Theranostics".

Deadline for manuscript submissions: 31 October 2025 | Viewed by 11506

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Dr. Elena Cecilia Rosca

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Guest Editor

1. Department of Neurology, Victor Babes University of Medicine and Pharmacy, Timisoara, Romania
2. Department of Neurology, Clinical Emergency County Hospital, Timisoara, Romania
Interests: evidence-based medicine; movement disorders; cognition; basal ganglia; infectious diseases
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Dear Colleagues,

Cognitive disorders, which affect millions of patients globally across all age groups, are a growing concern. Accurate and timely assessment ensures effective intervention and improved patient outcomes. This Special Issue addresses a spectrum of themes relevant to assessing and diagnosing cognitive disorders.

Novel assessment tools and methodologies: this section explores the latest advancements in cognitive assessment, including the use of technology-based platforms and neuroimaging techniques to refine diagnostic accuracy.

Differential diagnosis challenges: A crucial aspect of diagnosis involves distinguishing between various cognitive disorders and other conditions that may mimic their symptoms. This section aims to shed light on best practices for navigating these complexities.

The role of biomarkers: The exciting field of biomarker discovery holds immense promise for the future of cognitive disorder diagnosis. This section explores the potential of biomarkers in identifying early signs of cognitive decline and informing treatment decisions.

We recognize the challenges of diagnosing cognitive disorders, particularly in the early stages. This Special Issue strives to serve as a valuable resource for healthcare professionals, neuroscientists, and scientists seeking a deeper understanding of cognitive disorders. By facilitating earlier intervention and personalized treatment approaches, we hope to improve the lives of those living with cognitive disorders.

Dr. Elena Cecilia Rosca
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

cognitive disorders
neurology
neuroimaging
biomarkers
diagnosis

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Published Papers (7 papers)

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16 pages, 255 KiB

Open AccessArticle

The Link Between the Applied Visual Strategy When Copying the Rey–Osterrieth Complex Figure and the Language Abilities in Children with Specific Language Impairment

by Ivana Milanović, Milena Paštar, Saška Žunić, Maša Marisavljević, Mile Vuković, Vladimir Janjić, Milan Đorđić and Miško Subotić

Diagnostics 2025, 15(7), 851; https://doi.org/10.3390/diagnostics15070851 - 27 Mar 2025

Viewed by 360

Abstract

Background/Objectives: Although specific language impairment (SLI) was thought to be a language impairment, recent studies suggest that it is also associated with domain-general and nonverbal deficits such as deficits in nonverbal working memory, visual short-term memory, executive functions, etc. This study aimed to examine if applied visual strategy when copying the Rey–Osterrieth complex figure (ROCF) correlates with language abilities in children with SLI. Methods: The sample consisted of 37 children diagnosed with SLI, divided into two groups based on the strategy used when copying ROCF. We used ROCF to assess perceptual organization and planning, and the Peabody Picture Vocabulary Test, Boston Naming Test, Token Test, Grammatical Judgment, The Children’s Grammar, and Global Articulation Test for language measurement. Univariate ANOVA was used for statistical analysis. Results: The results indicate that children who used a more mature strategy when copying ROCF achieved better results on tests used to assess grammar and articulation status. Conclusions: These results support the conclusion that there are neurocognitive mechanisms underlying both grammatical and visuospatial deficits. The obtained results suggest the importance of examining visual and visuospatial functions in children with SLI and the need for more comprehensive treatment of those children. Full article

(This article belongs to the Special Issue Assessment and Diagnosis of Cognitive Disorders)

20 pages, 529 KiB

Open AccessArticle

Postoperative Delirium and Cognitive Dysfunction After Cardiac Surgery: The Role of Inflammation and Clinical Risk Factors

by Raluca-Elisabeta Staicu, Corina Vernic, Sebastian Ciurescu, Ana Lascu, Oana-Maria Aburel, Petru Deutsch and Elena Cecilia Rosca

Diagnostics 2025, 15(7), 844; https://doi.org/10.3390/diagnostics15070844 - 26 Mar 2025

Viewed by 649

Abstract

Background/Objectives: Postoperative delirium (POD) and postoperative cognitive dysfunction (POCD) are prevalent neurological complications following cardiac surgery, significantly affecting patient recovery and long-term outcomes, including increased risk of persistent cognitive impairment, functional decline, and mortality. Understanding the underlying mechanisms and risk factors for POD/POCD is crucial for improving perioperative management. This study aimed to investigate the relationship between postoperative systemic inflammation, assessed through inflammatory markers, and the occurrence of POD and POCD in patients undergoing cardiac surgery. Methods: We prospectively enrolled 88 patients aged 18–79 years undergoing open-heart surgery. Patients with preoperative cognitive impairment or high surgical risk (based on EuroSCORE and SOFA scores) were excluded to focus on the impact of inflammation in a relatively unselected cohort. Postoperative inflammatory responses (CRP, NLR, IL-6, IL-17A, SII, and SIRI) were measured, and patients were assessed for POD (CAM-ICU) and POCD (neuropsychological testing) during hospitalization and at 3 months follow-up. Statistical comparisons were performed between patients who developed POD/POCD and those who did not. Results: Postoperative inflammation was confirmed across the cohort, with significant increases in CRP, NLR, IL-6, SII, and SIRI. While correlational analyses between changes in individual inflammatory markers and POD/POCD were not statistically significant in the entire cohort, patients who developed POD/POCD exhibited significantly higher levels of IL-6 and NLR at 48 h postoperatively (p < 0.05). Established clinical risk factors significantly associated with POD/POCD included older age, prolonged cardiopulmonary bypass (CPB) duration, extended mechanical ventilation, vasopressor support duration, blood transfusion, renal dysfunction, and elevated postoperative creatine kinase (CK) and lactate dehydrogenase (LDH) (p < 0.05). Ejection fraction (EF) < 45% and atrial fibrillation (AF) were also more prevalent in the POD/POCD group. Conclusions: Our findings emphasize the significant role of the postoperative inflammatory response, particularly IL-6 and NLR, in conjunction with established clinical risk factors, in the development of POD and POCD after cardiac surgery. Postoperative IL-6 and NLR levels, readily measurable and cost-effective markers, may contribute to identifying patients at higher risk. Comprehensive perioperative management strategies targeting inflammation, modifiable clinical risk factors, and organ function are crucial for mitigating POD and POCD and improving cognitive outcomes in this vulnerable population. Full article

(This article belongs to the Special Issue Assessment and Diagnosis of Cognitive Disorders)

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20 pages, 457 KiB

Open AccessArticle

Comparative Study Between Cognitive Phenotypes of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome and Multiple Sclerosis

by Mehdi Aoun Sebaiti, Nadia Oubaya, Yannick Gounden, Chloé Samson, Emmanuele Lechapt, Abir Wahab, Alain Creange, Mathieu Hainselin and François-Jérôme Authier

Diagnostics 2025, 15(4), 487; https://doi.org/10.3390/diagnostics15040487 - 17 Feb 2025

Viewed by 2995

Abstract

Objective: Cognitive impairments are one of the most common and disabling symptoms associated with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). Here, we address the possibility of a specific cognitive profile inherent to ME/CFS. Due to the occurrence of cognitive deficits, fatigue, and pain in both pathologies, multiple sclerosis (MS) is a relevant comparison model. For this purpose, we carried out a comparative study between cognitive profiles of patients with ME/CFS and patients suffering from MS. Methods: In total, 40 ME/CFS and 40 MS patients were included. A complete screening of all cognitive functions was carried out through an extensive battery of tests routinely used in clinical practice. Results: ME/CFS and MS patients showed deficits in episodic memory retrieval, visual selective attention and reading speed. ME/CFS patients also elicited a lower level of performance than MS patients regarding consolidation. For both groups, levels of performance on these cognitive tests did not correlate with levels of fatigue, pain, and depression. Conclusions: This study highlighted both similarities and differences in the cognitive profiles of ME/CFS and MS patients. While both groups exhibited deficits in episodic memory retrieval, visual selective attention, and reading speed, ME/CFS patients showed distinct impairment in consolidation processes. These cognitive deficits were not correlated with fatigue, pain, or depression, reinforcing the hypothesis of intrinsic cognitive dysfunction in ME/CFS. These findings define a specific cognitive phenotype for ME/CFS, which could improve diagnostic accuracy and therapeutic strategies. Future research, particularly in functional imaging, may elucidate the neurobiological mechanisms underlying these impairments. Full article

(This article belongs to the Special Issue Assessment and Diagnosis of Cognitive Disorders)

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15 pages, 1192 KiB

Open AccessArticle

A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population

by Julian Lamilla, Taryn A. Castro-Cuesta, Paula Rueda-Gaitán, Laura Camila Rios Pinto, Diego Alejandro Rodríguez Gutiérrez, Yuri Natalia Sanchez Rubio, Carlos Estrada-Serrato, Olga Londoño, Cynthia Rucinski, Mauricio Arcos-Burgos, Mario Isaza-Ruget and Juan Javier López Rivera

Diagnostics 2025, 15(3), 376; https://doi.org/10.3390/diagnostics15030376 - 5 Feb 2025

Viewed by 1049

Abstract

Background and Objectives: Neurodevelopmental disorders (NDDs), including developmental delay (DD), autism spectrum disorder (ASD), intellectual disability (ID), attention-deficit/hyperactivity disorder (ADHD), and specific learning disorders, affect 15% of children and adolescents worldwide. Advances in next-generation sequencing, particularly whole exome sequencing (WES), have improved the understanding of NDD genetics. Methodology: This study analyzed 3244 patients undergoing WES (single, duo, trio analyses), with 1028 meeting inclusion criteria (67% male; aged 0–50 years). Results: Pathogenic (P) or likely pathogenic (LP) variants were identified in 190 patients, achieving a diagnostic yield of 13.4% (singleton), 14% (duo), and 21.2% (trio). A total of 207 P/LP variants were identified in NDD-associated genes: 38% were missense (48 de novo), 29% frameshift (26 de novo), 21% nonsense (14 de novo), 11% splicing site (14 de novo), and 1% inframe (1 de novo). De novo variants accounted for 49.8% of cases, with 86 novels de novo variants and 27 novel non de novo variants unreported in databases like ClinVar or scientific literature. Conclusions: This is the largest study on WES in Colombian children with NDDs and one of the largest in Latino populations. It highlights WES as a cost-effective first-tier diagnostic tool in low-income settings, reducing diagnostic timelines and improving clinical care. These findings underscore the feasibility of implementing WES in underserved populations and contribute significantly to understanding NDD genetics, identifying novel variants with potential for further research and clinical applications. Full article

(This article belongs to the Special Issue Assessment and Diagnosis of Cognitive Disorders)

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13 pages, 1054 KiB

Open AccessArticle

Epileptic Patients with More Clinic Visits Are More Likely to Be Diagnosed with Dementia—A Population-Based Retrospective Cohort Study

by Pao-Sheng Yen, Chih-Hsin Muo, Chung-Hsin Yeh and Fung-Chang Sung

Diagnostics 2024, 14(23), 2748; https://doi.org/10.3390/diagnostics14232748 - 6 Dec 2024

Viewed by 668

Abstract

Objective: This retrospective cohort study assessed dementia risk in epilepsy patients associated with the compliance to epileptic treatment visits. Methods: We used Taiwanese insurance claims data to establish an epilepsy cohort (N = 39,216) diagnosed in 2000–2015 and a matched control cohort without epilepsy (N = 156,864), evaluating the incident dementia by the end of 2016. Results: The dementia incidence was 2.9-fold higher in the epilepsy cohort than in comparisons (4.68 vs. 1.59 per 1000 person-years). Only 9.3% of epilepsy patients were compliant to ≥80% of scheduled treatment visits, but they exhibited a 7.2-fold higher dementia incidence than those without treatment. The contrast was greater in younger patients than in the elderly (20-fold versus 5.5-fold). Dementia incidence increased with the frequency of neurological consultations, peaking in the first year after epilepsy diagnosis. Conclusions: Epileptic patients with more clinical visits for active treatment had a higher chance of dementia diagnosis, highlighting the importance of close neurological monitoring post-epilepsy diagnosis to address potential dementia complications. Full article

(This article belongs to the Special Issue Assessment and Diagnosis of Cognitive Disorders)

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12 pages, 2261 KiB

Open AccessArticle

Comparison of Serum and Cerebrospinal Fluid Neurofilament Light Chain Concentrations Measured by Ella™ and Lumipulse™ in Patients with Cognitive Impairment

by Teresa Urbano, Riccardo Maramotti, Manuela Tondelli, Chiara Gallingani, Chiara Carbone, Najara Iacovino, Giulia Vinceti, Giovanna Zamboni, Annalisa Chiari and Roberta Bedin

Diagnostics 2024, 14(21), 2408; https://doi.org/10.3390/diagnostics14212408 - 29 Oct 2024

Cited by 3 | Viewed by 1383

Abstract

Objective: Neurofilament light chain proteins (NfLs) are considered a promising biomarker of neuroaxonal damage in several neurological diseases. Their measurement in the serum and cerebrospinal fluid (CSF) of patients with dementia may be especially useful. Our aim was to compare the NfL measurement performance of two advanced technologies, specifically the Ella™ microfluidic platform and the Lumipulse™ fully automated system, in patients with cognitive disorders. Methods: Thirty subjects with neurodegenerative cognitive disorders (10 with Alzheimer’s Disease, 10 with Frontotemporal Dementia, and 10 with non-progressive Mild Cognitive Impairment) seen at the Cognitive Neurology Clinic of Modena University Hospital (Italy) underwent CSF and serum NfL measurement with both the Ella™ microfluidic platform (Bio-Techne, Minneapolis, MN, USA)) and the Lumipulse™ fully automated system for the CLEIA (Fujirebio Inc., Ghent, Belgium). Correlation and regression analyses were applied to assess the association between NfL concentrations obtained with the two assays in CSF and serum. The Passing–Bablok regression method was employed to evaluate the agreement between the assays. Results: There were high correlations between the two assays (r = 0.976, 95% CI. 0.950–0.989 for CSF vs. r = 0.923, 95% CI 0.842–0.964 for serum). A Passing–Bablok regression model was estimated to explain the relationship between the two assays, allowing us to switch from one to the other when only one assay was available. Conclusions: We found a good degree of correlation between the two methods in patients with neurocognitive disorders. We also established a method that will allow comparisons between results obtained with either technique, allowing for meta-analyses and larger sample sizes. Full article

(This article belongs to the Special Issue Assessment and Diagnosis of Cognitive Disorders)

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85 pages, 4702 KiB

Open AccessSystematic Review

Advances in Neuroimaging and Deep Learning for Emotion Detection: A Systematic Review of Cognitive Neuroscience and Algorithmic Innovations

by Constantinos Halkiopoulos, Evgenia Gkintoni, Anthimos Aroutzidis and Hera Antonopoulou

Diagnostics 2025, 15(4), 456; https://doi.org/10.3390/diagnostics15040456 - 13 Feb 2025

Cited by 6 | Viewed by 3638

Abstract

Background/Objectives: The following systematic review integrates neuroimaging techniques with deep learning approaches concerning emotion detection. It, therefore, aims to merge cognitive neuroscience insights with advanced algorithmic methods in pursuit of an enhanced understanding and applications of emotion recognition. Methods: The study was conducted following PRISMA guidelines, involving a rigorous selection process that resulted in the inclusion of 64 empirical studies that explore neuroimaging modalities such as fMRI, EEG, and MEG, discussing their capabilities and limitations in emotion recognition. It further evaluates deep learning architectures, including neural networks, CNNs, and GANs, in terms of their roles in classifying emotions from various domains: human-computer interaction, mental health, marketing, and more. Ethical and practical challenges in implementing these systems are also analyzed. Results: The review identifies fMRI as a powerful but resource-intensive modality, while EEG and MEG are more accessible with high temporal resolution but limited by spatial accuracy. Deep learning models, especially CNNs and GANs, have performed well in classifying emotions, though they do not always require large and diverse datasets. Combining neuroimaging data with behavioral and cognitive features improves classification performance. However, ethical challenges, such as data privacy and bias, remain significant concerns. Conclusions: The study has emphasized the efficiencies of neuroimaging and deep learning in emotion detection, while various ethical and technical challenges were also highlighted. Future research should integrate behavioral and cognitive neuroscience advances, establish ethical guidelines, and explore innovative methods to enhance system reliability and applicability. Full article

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