Diagnostics

19 pages, 2536 KiB

Open AccessSystematic Review

From Subtle Signs to Severe Sequelae—A Century of Symptomatology and Comorbidities in the Diagnosis of GH-Secreting Pituitary Neuroendocrine Tumors: A Systematic Review

by María José Ayora, Lizeth Vinueza-Mera, Santiago Aynaguano, David Poma Jimenez, Felipe Loza Hernandez, Sebastian Jara Jimenez, Jose A. Rodas and Jose E. Leon-Rojas

Diagnostics 2025, 15(17), 2137; https://doi.org/10.3390/diagnostics15172137 - 24 Aug 2025

Abstract

Background/Objectives: Somatotropinomas rank as the second most prevalent functional pituitary neuroendocrine tumors (PitNETs), responsible for acromegaly in adults and gigantism in children. Early diagnosis and treatment would help prevent irreversible physical changes and other associated comorbidities. The aim of this review is [...] Read more.

Background/Objectives: Somatotropinomas rank as the second most prevalent functional pituitary neuroendocrine tumors (PitNETs), responsible for acromegaly in adults and gigantism in children. Early diagnosis and treatment would help prevent irreversible physical changes and other associated comorbidities. The aim of this review is to characterize the symptomatic presentation of growth hormone (GH)-secreting PitNET at the time of diagnosis. Methods: A search was conducted in PubMed, Scopus, Cochrane, and the Virtual Health Library (VHL). Primary descriptive and analytical studies were selected if they were written in Spanish or English and addressed the symptoms of acromegaly and/or gigantism due to somatotropinomas. Results: Out of 8470 articles, 93 fulfilled the inclusion criteria, covering 1745 patients (55.4% women). The most frequent diagnostic signs/symptoms were enlarged extremities (12.4%) and facial changes (13.1%). Endocrine–metabolic (42.82%) and cardiovascular (31.45%) were the most prevalent comorbidities. The average diagnostic delay was 6.7 years, with the number of reports of the disease significantly increasing in recent decades, most likely due to ongoing advances in imaging and standardized hormonal tests. Conclusions: Timely recognition of a somatotropinoma’s symptoms and comorbidities is crucial for early diagnosis and referral to specialized care and the prevention of permanent physical and/or physiological changes. Full article

(This article belongs to the Special Issue Diagnosis and Management of Neuroendocrine Tumors)

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11 pages, 1356 KiB

Open AccessArticle

Additive Value of EBUS-TBNA for Staging Non-Small Cell Lung Cancer in Patients Evaluated for Stereotactic Body Radiation Therapy

by Joshua M. Boster, S. Michael Goertzen, Paula V. Sainz, Macarena R. Vial, Jhankruti K. Zaveri-Desai, Luis D. Luna, Anum Waqar, Horiana B. Grosu, Roberto F. Casal, Carlos A. Jimenez, David E. Ost, Bruce F. Sabath, Julie Lin, Mike Hernandez and Georgie A. Eapen

Diagnostics 2025, 15(17), 2136; https://doi.org/10.3390/diagnostics15172136 - 24 Aug 2025

Abstract

Background/Objectives: Patients with non-small cell lung cancer (NSCLC) being evaluated for stereotactic body radiation therapy (SBRT) are frequently staged non-invasively with positron emission tomography/computed tomography (PET/CT). Performing endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) in addition to PET/CT scanning may increase clinical certainty [...] Read more.

Background/Objectives: Patients with non-small cell lung cancer (NSCLC) being evaluated for stereotactic body radiation therapy (SBRT) are frequently staged non-invasively with positron emission tomography/computed tomography (PET/CT). Performing endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) in addition to PET/CT scanning may increase clinical certainty in lymph node staging, but the magnitude of added benefit of EBUS-TBNA over non-invasive staging methods is unclear. Methods: A single-center prospective cohort study involving patients with suspected or confirmed Stage I or IIa NSCLC referred for EBUS-TBNA prior to SBRT was performed. The primary outcome was concordance between PET/CT and EBUS-TBNA for nodal metastases. Secondary endpoints included sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of PET/CT, and clinical outcomes based on staging results. Results: Among 115 patients, the concordance between PET/CT and EBUS-TBNA was 84.3% (95% CI: 0.76 0.90). EBUS-TBNA led to a stage shift in 15.7% of cases: 4 of 98 PET/CT N0 patients (4.1%) had nodal metastases, while 14 of 17 PET/CT N1 patients (82.4%) were downstaged to N0. PET/CT sensitivity was 42.9% (95% CI: 0.09–0.81), specificity 87% (95% CI: 0.79–0.93), PPV 17.6% (95% CI: 0.04–0.43), and NPV 95.9% (95% CI: 0.90–0.99). PET/CT-positive, EBUS-TBNA-negative patients had worse survival (HR 4.25, 95% CI: 1.24–14.53, p = 0.021) compared with double-negative patients. Conclusions: EBUS-TBNA improves staging accuracy over PET/CT in early-stage NSCLC, impacting SBRT candidacy. However, PET/CT-positive, EBUS-TBNA-negative patients had worse outcomes in comparison to double-negative patients, suggesting a need for additional therapy or surveillance in that population. Full article

(This article belongs to the Section Clinical Diagnosis and Prognosis)

11 pages, 1979 KiB

Open AccessArticle

Need for Routine Brain Magnetic Resonance Imaging for Unilateral Facial Palsy in Emergency Department

by Hanna Park, Youn-Jung Kim and Won Young Kim

Diagnostics 2025, 15(17), 2135; https://doi.org/10.3390/diagnostics15172135 - 24 Aug 2025

Abstract

Objectives: The need for routine brain magnetic resonance imaging (MRI) for patients presenting with unilateral facial palsy in the emergency department (ED) is a subject of ongoing debate. This study aimed to evaluate the diagnostic yield of MRI in this population and to [...] Read more.

Objectives: The need for routine brain magnetic resonance imaging (MRI) for patients presenting with unilateral facial palsy in the emergency department (ED) is a subject of ongoing debate. This study aimed to evaluate the diagnostic yield of MRI in this population and to identify clinical risk factors associated with non-idiopathic causes, to inform selective imaging strategies. Methods: This single-center, retrospective study was conducted in the ED of a tertiary-care center in Korea. We analyzed adult patients (aged ≥ 18 years) who presented with facial palsy as the primary symptom between 1 January 2020 and 31 December 2022. Patients with other neurological abnormalities detected during the initial examination or those who did not undergo brain MRI were excluded. The primary outcome was the identification of positive MRI findings, defined as brain lesions (e.g., ischemic stroke, tumor, and hemorrhage) considered causally related to the facial palsy based on anatomical correlation and radiological interpretation. Patients were categorized into positive or negative MRI groups accordingly, and baseline characteristics were compared between the groups. Results: Among the 436 patients who underwent brain MRI, 13 (3.0%) showed positive findings such as brain tumors or stroke that led to diagnoses other than Bell’s palsy, while the remaining 423 (97.0%) were ultimately diagnosed with Bell’s palsy. The proportion of patients with a history of transient ischemic attack/stroke and malignancy was significantly higher in the group with non-idiopathic facial palsy (p = 0.02 and p < 0.001, respectively). Conclusions: In adults presenting to the ED with clinically isolated unilateral facial palsy and no other neurological signs, routine brain MRI had a low diagnostic yield (3%). A history of malignancy or prior TIA/stroke was associated with alternative diagnoses. A selective imaging strategy based on risk factors may improve diagnostic efficiency without compromising safety. Full article

(This article belongs to the Special Issue Clinical Diagnosis and Management in Emergency and Hospital Medicine)

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12 pages, 664 KiB

Open AccessArticle

Influence of Aortoiliac Geometry on Non-Occlusive Thrombotic Risk Following Endovascular Repair of Abdominal Aortic Aneurysms

by Jeong In Lee, Dac Hong An Ngo, Hong Pil Hwang, Young Min Han and Hyo Sung Kwak

Diagnostics 2025, 15(17), 2134; https://doi.org/10.3390/diagnostics15172134 - 24 Aug 2025

Abstract

Objectives: This study investigated the impact of aortoiliac geometry on thrombotic complication following aortic endovascular aneurysm repair (EVAR). Methods: Data from 54 patients who received abdominal EVAR between January 2015 and December 2023, in which 18 developed unilateral iliac limb in-stent [...] Read more.

Objectives: This study investigated the impact of aortoiliac geometry on thrombotic complication following aortic endovascular aneurysm repair (EVAR). Methods: Data from 54 patients who received abdominal EVAR between January 2015 and December 2023, in which 18 developed unilateral iliac limb in-stent thrombus, were retrospectively reviewed. Clinical data, including cardiovascular risk factors, laboratory findings, and geometrical factors, including iliac diameter, sectional area, limb angles, and tortuosity, were collected. Aortoiliac geometry analyses were performed on the 3D model reconstructed from abdominal aortic computed tomography angiography (CTA) using semi-automated software (MIMICS version 25.0). Results: Compared to non-thrombotic limbs, thrombotic iliac limbs showed larger maximum diameters (17.48 ± 0.95 mm vs 14.14 ± 0.62 mm, p = 0.006), lower graft limb angles (117.52° ± 5.61° vs. 148.54° ± 4.31°, p < 0.001), lower aortoiliac angles (123.48° ± 4.66° vs. 141.96° ± 4.76°, p = 0.009), and higher iliac tortuosities (0.2 ± 0.03 vs. 0.12 ± 0.02, p = 0.02). Paired comparisons between normal and diseased limbs in 18 patients with thrombotic events also showed statistical differences in terms of iliac limb maximum diameter, graft limb angle, aortoiliac angle, and iliac tortuosity. Conclusions: Thrombosis formation following EVAR in iliac limbs was associated with limb diameter, graft limb angle, aortoiliac angle, and tortuosity. Full article

(This article belongs to the Special Issue Recent Advances in Diagnostic and Interventional Radiology)

14 pages, 571 KiB

Open AccessArticle

Associations Between Paternal Body Mass Index and Neurodevelopmental–Physical Outcomes in Small-for-Gestational-Age Children

by Yimin Zhang, Shuming Shao, Jiong Qin, Jie Liu, Guoli Liu, Zheng Liu and Xiaorui Zhang

Diagnostics 2025, 15(17), 2133; https://doi.org/10.3390/diagnostics15172133 - 24 Aug 2025

Abstract

Objective: This study investigated the association between paternal preconception paternal body mass index (BMI) categories and physical/neurodevelopmental outcomes in Chinese small-for-gestational-age (SGA) children. Methods: A prospective cohort study enrolled 412 singleton SGA infants born at Peking University People’s Hospital in 2020–2022. Fathers [...] Read more.

Objective: This study investigated the association between paternal preconception paternal body mass index (BMI) categories and physical/neurodevelopmental outcomes in Chinese small-for-gestational-age (SGA) children. Methods: A prospective cohort study enrolled 412 singleton SGA infants born at Peking University People’s Hospital in 2020–2022. Fathers were stratified into underweight, normal-weight, overweight, and obese groups. Follow-up assessments at 24–36 months evaluated growth parameters weight, height, BMI Z-scores and neurodevelopment using the Ages and Stages Questionnaire-3 (ASQ-3) and ASQ: Social–Emotional (ASQ:SE). Multivariable regression was adjusted for paternal covariates. Results: In SGA offspring, paternal underweight correlated with lower birth weights vs. normal/obese paternal BMI and the highest severe SGA rates. Prospective monitoring identified elevated BMI Z-scores (ΔZ = +0.40) and 8.7-fold heightened obesity risk in the paternal obesity group versus normal-weight counterparts. Neurodevelopmental evaluations demonstrated gross motor impairments in both underweight (ΔZ = −0.22) and obese paternal subgroups (ΔZ = −0.25) compared with the normal-weight group, with the obesity cohort additionally exhibiting problem-solving deficiencies (ΔZ = −0.19). The paternal obesity group manifested three-fold greater likelihood of social–emotional delays than the normal-weight group. The underweight and obese paternal groups showed 3.46-fold and 2.73-fold higher probabilities of gross motor deficits, respectively, while obesity was linked to 3.27-fold elevated problem-solving impairment risk-all comparisons versus normal paternal BMI. Overweight status showed no significant links to growth or neurodevelopmental outcomes. Normal-weight fathers had lower risks of obesity and neurodevelopmental issues. Conclusions: This study revealed U-shaped paternal BMI–neurodevelopment links in SGA offspring. Paternal obesity raised offspring obesity/neurodevelopmental risks, while underweight linked to severe SGA and motor deficits, highlighting paternal weight optimization’s modifiable role. Full article

(This article belongs to the Section Clinical Diagnosis and Prognosis)

27 pages, 3603 KiB

Open AccessArticle

Enhancing Diagnostic Accuracy of Neurological Disorders Through Feature-Driven Multi-Class Classification with Machine Learning

by Çiğdem Gülüzar Altıntop

Diagnostics 2025, 15(17), 2132; https://doi.org/10.3390/diagnostics15172132 - 23 Aug 2025

Abstract

Background/Objectives: Neurological disorders (ND) are a global health challenge, affecting millions and greatly reducing quality of life. Disorders such as Alzheimer’s disease, mild cognitive impairment (MCI), schizophrenia, and depression often share overlapping symptoms, complicating diagnosis and treatment. Early detection is crucial for timely [...] Read more.

Background/Objectives: Neurological disorders (ND) are a global health challenge, affecting millions and greatly reducing quality of life. Disorders such as Alzheimer’s disease, mild cognitive impairment (MCI), schizophrenia, and depression often share overlapping symptoms, complicating diagnosis and treatment. Early detection is crucial for timely intervention; however, traditional diagnostic methods rely on subjective assessments and costly imaging, which are not universally accessible. Addressing these challenges, this study investigates the classification of multiple ND using electroencephalography (EEG) signals. Methods: Various feature extraction methods were employed, and the Least Absolute Shrinkage and Selection Operator (Lasso) algorithm was utilized for effective feature selection. Two-class (disease–disease and healthy control–disease), three-class (healthy control and two ND, as well as three ND), and four-class (healthy control and three ND) classifications were conducted using different machine learning algorithms with the selected features. An EEG dataset comprising 40 Alzheimer’s patients, 43 healthy controls, 42 schizophrenia patients, 28 MCI patients, and 28 depression patients served as the experimental benchmark. Results: The Linear Discriminant Analysis (LDA) classifier achieved the highest accuracy, distinguishing between healthy controls and Alzheimer’s with 100% accuracy and demonstrating strong performance in other comparisons. Multi-class classification reached 84.67% accuracy for distinguishing depression, MCI, and schizophrenia, while four-class classification achieved 57.89%, highlighting the complexity of differentiating among multiple ND. The frequent selection of frontal lobe channels across ND indicates their critical role in classification. Conclusions: This study contributes to the literature by emphasizing disease-to-disease classification over the traditional control-versus-patient framework, highlighting the potential for more effective diagnostic tools in clinical settings. Full article

(This article belongs to the Special Issue Artificial Intelligence in Brain Diseases)

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15 pages, 3154 KiB

Open AccessArticle

Transformer-Based HER2 Scoring in Breast Cancer: Comparative Performance of a Foundation and a Lightweight Model

by Yeh-Han Wang, Min-Hsiang Chang, Hsin-Hsiu Tsai, Chun-Jui Chien and Jian-Chiao Wang

Diagnostics 2025, 15(17), 2131; https://doi.org/10.3390/diagnostics15172131 - 23 Aug 2025

Abstract

Background/Objectives: Human epidermal growth factor 2 (HER2) scoring is critical for modern breast cancer therapies, especially with emerging indications of antibody–drug conjugates for HER2-low tumors. However, inter-observer agreement remains limited in borderline cases. Automatic artificial intelligence-based scoring has the [...] Read more.

Background/Objectives: Human epidermal growth factor 2 (HER2) scoring is critical for modern breast cancer therapies, especially with emerging indications of antibody–drug conjugates for HER2-low tumors. However, inter-observer agreement remains limited in borderline cases. Automatic artificial intelligence-based scoring has the potential to improve diagnostic consistency and scalability. This study aimed to develop two transformer-based models for HER2 scoring of breast cancer whole-slide images (WSIs) and compare their performance. Methods: We adapted a large-scale foundation model (Virchow) and a lightweight model (TinyViT). Both were trained using patch-level annotations and integrated into a WSI scoring pipeline. Performance was evaluated on a clinical test set (n = 66), including clinical decision tasks and inference efficiency. Results: Both models achieved substantial agreement with pathologist reports (linear weighted kappa: 0.860 for Virchow, 0.825 for TinyViT). Virchow showed slightly higher WSI-level accuracy than TinyViT, whereas TinyViT reduced inference times by 60%. In three binary clinical tasks, both models demonstrated a diagnostic performance comparable to pathologists, particularly in identifying HER2-low tumors for antibody–drug conjugate (ADC) therapy. A continuous scoring framework demonstrated a strong correlation between the two models (Pearson’s r = 0.995) and aligned with human assessments. Conclusions: Both transformer-based artificial intelligence models achieved human-level accuracy for automated HER2 scoring with interpretable outputs. While the foundation model offers marginally higher accuracy, the lightweight model provides practical advantages for clinical deployment. In addition, continuous scoring may provide a more granular HER2 quantification, especially in borderline cases. This could support a new interpretive paradigm for HER2 assessment aligned with the evolving indications of ADC. Full article

(This article belongs to the Section Machine Learning and Artificial Intelligence in Diagnostics)

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Graphical abstract

23 pages, 5200 KiB

Open AccessArticle

Genomic Insights into Tumorigenesis in Newly Diagnosed Multiple Myeloma

by Marina Kyriakou and Costas Papaloukas

Diagnostics 2025, 15(17), 2130; https://doi.org/10.3390/diagnostics15172130 - 23 Aug 2025

Abstract

Background: Multiple Myeloma (MM) is a malignant plasma cell dyscrasia that progresses through the consecutive asymptomatic, often undiagnosed, precancerous stages of Monoclonal Gammopathy of Undetermined Significance (MGUS) and Asymptomatic Multiple Myeloma (SMM). MM is characterized by low survival rates, severe complications and [...] Read more.

Background: Multiple Myeloma (MM) is a malignant plasma cell dyscrasia that progresses through the consecutive asymptomatic, often undiagnosed, precancerous stages of Monoclonal Gammopathy of Undetermined Significance (MGUS) and Asymptomatic Multiple Myeloma (SMM). MM is characterized by low survival rates, severe complications and drug resistance; therefore, understanding the molecular mechanisms of progression is crucial. This study aims to detect genetic mutations, both germline and somatic, that contribute to disease progression and drive tumorigenesis at the final stage of MM, using samples from patients presenting MGUS or SMM, and newly diagnosed MM patients. Methods: Mutations were identified through a fully computational pipeline, implemented in a Linux and RStudio environment, applied to each patient sequence, obtained through single-cell RNA-sequencing (scRNA-seq), separately. Structural and functional mutation types were identified by stage, along with the affected genes. The analysis included quality control, removal of the Unique Molecular Identifiers (UMIs), trimming, genome mapping and result visualization. Results: The findings revealed frequent germline and somatic mutations, with distinct structural and functional patterns across disease stages. Mutations in key genes were identified, pointing to molecules that may play a central role in carcinogenesis and disease progression. Notable examples include the HLA-A, HLA-B and HLA-C genes, as well as the KIF, EP400 and KDM gene families, with the first four already confirmed. Comparative analysis between the stages highlighted molecular transition events from one stage to another. Emphasis was given to novel genes discovered in newly diagnosed MM patients, that might contribute to the tumorigenesis that takes place. Conclusions: This study contributes to the understanding of the genetic basis of plasma cell dyscrasias and the transition events between the stages, offering insights that could aid in early detection and diagnosis, guide the development of personalized therapeutic strategies, and improve the understanding of mechanisms responsible for resistance to existing therapies. Full article

(This article belongs to the Section Pathology and Molecular Diagnostics)

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13 pages, 545 KiB

Open AccessArticle

The Diagnostic Utility of Prenatal Microarray in High-Risk Pregnancies: A Single-Center Experience in Enhancing Reproductive Care and Risk Stratification

by Abdullatif Bakır, Mustafa Tarık Alay, Umut Can Tekbaş, Sadun Sucu, İrem Kalay and Hanife Saat

Diagnostics 2025, 15(17), 2129; https://doi.org/10.3390/diagnostics15172129 - 23 Aug 2025

Abstract

Background/Objective: Prenatal cytogenetic testing is essential for pregnant women who are at high risk of having a child with a chromosomal abnormality. While conventional karyotyping detects large aneuploidies and structural rearrangements (>5–10 Mb), chromosomal microarray analysis (CMA) identifies smaller copy number variants (CNVs), [...] Read more.

Background/Objective: Prenatal cytogenetic testing is essential for pregnant women who are at high risk of having a child with a chromosomal abnormality. While conventional karyotyping detects large aneuploidies and structural rearrangements (>5–10 Mb), chromosomal microarray analysis (CMA) identifies smaller copy number variants (CNVs), increasing the diagnostic yield by approximately 5%. CMA is now recommended as the first-line test for evaluating fetal structural anomalies that are detected by ultrasound. Method: From March 2023 to September 2024, we analyzed 344 prenatal samples using conventional karyotyping and SNP-based CMA. Karyotyping was performed via flask culture, and CMA was conducted using the Infinium Global Screening Array Cyto (GSA-Cyto) on the Illumina iScan platform. We interpreted the CNVs using NxClinical v6.0 and curated databases including ClinVar, DECIPHER, OMIM, and ClinGen, among others. Our results aligned with the GRCh37/hg19 reference genome. Results: Chromosomal abnormalities were identified in 57/344 cases (16.5%). Of these, 39 cases were numerical chromosomal anomalies, and 18 cases were pathogenic or likely pathogenic CNVs. Notably, 11 CNVs (3.2%) were undetectable by conventional karyotyping, emphasizing the added value of CMA. Conclusions: CMA enhances the prenatal diagnostic accuracy by detecting submicroscopic CNVs that are not visible with conventional methods, supporting the routine use of this analysis in prenatal genetic evaluation. Full article

(This article belongs to the Topic Development of Diagnosis and Treatment Modalities in Obstetrics and Gynecology)

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11 pages, 555 KiB

Open AccessArticle

Active Microbiological Surveillance for Contrasting Multi-Drug-Resistant Pathogens: Comparison Between a Multiplex Real-Time PCR Method and Culture

by Gaetano Maugeri, Maddalena Calvo, Guido Scalia and Stefania Stefani

Diagnostics 2025, 15(17), 2128; https://doi.org/10.3390/diagnostics15172128 - 22 Aug 2025

Abstract

Background/Objectives. Multi-drug-resistant (MDR) microorganisms pose a significant challenge in healthcare settings, particularly with beta-lactam-resistant Gram-negative bacteria and glycopeptide-resistant enterococci. Culture represents the most reliable technique in determining their presence within surveillance swabs. However, it requires a long time-to-result (TTR) and shows low [...] Read more.

Background/Objectives. Multi-drug-resistant (MDR) microorganisms pose a significant challenge in healthcare settings, particularly with beta-lactam-resistant Gram-negative bacteria and glycopeptide-resistant enterococci. Culture represents the most reliable technique in determining their presence within surveillance swabs. However, it requires a long time-to-result (TTR) and shows low sensitivity. Molecular techniques integrate diagnostic procedures, allowing TTR reduction and precise identification of genes. Methods. During our usual surveillance campaign, we had the opportunity to evaluate the Allplex Entero-DR assay (Seegene Inc., Seoul, Republic of Korea) and the Entero-DR Plus assay (Arrow Diagnostics srl, Genova, Italy) molecular kits for the detection of extended-β-lactamases (ESBL), carbapenem- and vancomycin-resistant genes, as well as Acinetobacter spp. and Pseudomonas aeruginosa spp. identification directly from rectal swabs. A comparison between these tests and the culture-based routine completed the study. Results. The analysis included 300 rectal swabs from the University Hospital Policlinico (Catania, Italy). One hundred and eighty-eight samples (62.6%) resulted as positive for at least one Allplex™ target, reaching optimal sensitivity and negative predictive value (100%). Our results underlined the ubiquitous blaCTX-M and van genes presence and demonstrated the diffusion of double-carbapenemases genes and metallo-β-lactamases-producing strains. In our epidemiological setting, few data were collected about carbapenem-resistant P. aeruginosa and Acinetobacter spp., which require further evaluations on simultaneous respiratory colonization and higher sample numbers. Conclusions. Our analysis highlighted the importance of combining conventional and advanced diagnostic methods in investigating MDR pathogens. The right approach should be based on the prevalence and variability of resistance mechanisms within a specific epidemiological area. Remarkably, molecular screenings may exclude negative samples within high-risk areas due to a significant negative predictive value. Full article

(This article belongs to the Special Issue Molecular Techniques in Infectious Disease Diagnosis: Advances and Applications)

19 pages, 724 KiB

Open AccessArticle

Analyzing the Gaps in Breast Cancer Diagnostics in Poland—A Retrospective Observational Study in the Data Donation Model

by Wojciech Sierocki, Ligia Kornowska, Oliver Slapal, Agata Koska, Gabriela Sierocka, Alicja Dudek, Claudia Dompe, Michał Suchodolski, Przemysław Keczmer and Magdalena Roszak

Diagnostics 2025, 15(17), 2127; https://doi.org/10.3390/diagnostics15172127 - 22 Aug 2025

Abstract

Background: Breast cancer is a major health concern in Poland, with significant incidence and mortality rates despite national screening programs. This retrospective study aimed to evaluate critical aspects of breast cancer management, focusing on waiting times, treatment coordination, cancer characteristics, diagnostic testing, and [...] Read more.

Background: Breast cancer is a major health concern in Poland, with significant incidence and mortality rates despite national screening programs. This retrospective study aimed to evaluate critical aspects of breast cancer management, focusing on waiting times, treatment coordination, cancer characteristics, diagnostic testing, and staging. Methods: We retrospectively analyzed 587 medical records of breast cancer patients (585 female, 2 male) collected between March 2023 and June 2024 through a data donation model. Data included tumor characteristics (histological type, grade, stage, biological subtype, receptor status, Ki-67), diagnostic and genetic tests, and timelines of key events in the diagnostic and therapeutic pathways. Results: Although referral to first oncology consult (18 days) and MDT referral/admission to treatment (10 days) met NFZ guidelines, diagnosis to surgery (94 days) and diagnosis to drug treatment (109 days) were significantly delayed. No records showed oncology coordinator assignment or educational material provision. Clinically, invasive carcinoma NST (77%) and early-stage (IA/IIA, 61%) were prevalent, with Luminal B (HER2-negative) being the most common biological subtype. BRCA1/2 testing was common, but Oncotype DX was not. For 314 HR+ HER2- patients, stage IA (44%) was most common, with no BRCA1/2 mutations found. Conclusion: Breast cancer care in the Łódź voivodeship falls short of national guidelines due to long waiting times and poor care coordination, a problem worsened by incomplete data. Improving record-keeping and speeding up diagnostic and treatment pathways are crucial for better breast cancer management in Poland. While patient data donation can help analyze real clinical pathways, data completeness, and consistency remain challenges. Full article

(This article belongs to the Special Issue Diagnosis, Treatment, and Prognosis of Breast Cancer)

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19 pages, 886 KiB

Open AccessArticle

Evaluating NT-proBNP-to-Albumin (NTAR) and RDW-to-eGFR (RGR) Ratios as Biomarkers for Predicting Hospitalization Duration and Mortality in Pulmonary Arterial Hypertension (PAH) and Chronic Thromboembolic Pulmonary Hypertension (CTEPH)

by Dragos Gabriel Iancu, Liviu Cristescu, Razvan Gheorghita Mares, Andreea Varga and Ioan Tilea

Diagnostics 2025, 15(17), 2126; https://doi.org/10.3390/diagnostics15172126 - 22 Aug 2025

Abstract

Background/Objectives: Prognostic biomarkers are essential for guiding the clinical management of pulmonary hypertension (PH). This study aimed to assess both established and novel biomarkers—specifically, the red cell distribution width-to-estimated glomerular filtration rate ratio (RGR) and the NT-proBNP-to-albumin ratio (NTAR)—for their ability to [...] Read more.

Background/Objectives: Prognostic biomarkers are essential for guiding the clinical management of pulmonary hypertension (PH). This study aimed to assess both established and novel biomarkers—specifically, the red cell distribution width-to-estimated glomerular filtration rate ratio (RGR) and the NT-proBNP-to-albumin ratio (NTAR)—for their ability to predict length of hospital stay (LOS), prolonged LOS (ELOS), in-hospital mortality, and 3-month all-cause mortality in patients with pulmonary arterial hypertension (PAH) and chronic thromboembolic pulmonary hypertension (CTEPH). Methods: A retrospective analysis was conducted on 275 PH-related hospital regular admissions (148 PAH; 127 CTEPH). Established biomarkers—including serum albumin, neutrophil-to-lymphocyte ratio (NLR), Log NT-proBNP, red cell distribution width (RDW), and estimated glomerular filtration rate (eGFR)—as well as novel indices (RGR, and NTAR) were examined for their relationships with LOS, ELOS, in-hospital mortality, and 3-month all-cause mortality. Spearman correlation, univariate logistic regression, and ROC analyses evaluated biomarker relationships and predictive performance. Results: Serum albumin independently predicted in-hospital and 3-month mortality in PAH, while in CTEPH, it inversely correlated with LOS and strongly predicted prolonged hospitalization and mortality (AUC = 0.833). NLR had limited correlation with LOS but predicted mortality across both groups. RDW correlated weakly with LOS, significantly predicting prolonged hospitalization (threshold > 52.1 fL) in PAH but not in CTEPH. Preserved renal function (eGFR > 60 mL/min/1.73 m²) was inversely associated with LOS in CTEPH patients, suggesting a protective effect. Additionally, reduced eGFR significantly predicted mortality in both PAH (AUC = 0.701; optimal cut-off ≤ 97.4 mL/min/1.73 m²) and CTEPH (AUC = 0.793; optimal cut-off ≤ 59.2 mL/min/1.73 m²) groups. NTAR (AUC = 0.817) outperformed Log NT-proBNP alone in predicting extended hospitalization and mortality, whereas RGR correlated with LOS and predicted in-hospital mortality. Phenotype-specific analysis demonstrated that inflammatory and renal biomarkers had a stronger prognostic impact in CTEPH. Conclusions: Stratification by PH phenotype highlighted the greater prognostic significance of inflammatory and renal indices, particularly in patients with CTEPH. Incorporating NTAR and RGR into clinical workflows may enhance risk stratification and enable more precisely targeted interventions to improve outcomes in pulmonary hypertension. Full article

(This article belongs to the Special Issue Diagnosis, Classification, and Monitoring of Pulmonary Diseases)

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11 pages, 1361 KiB

Open AccessReview

Clinical Utility of eZIS in Cerebral Blood Flow SPECT

by Shinji Yamamoto, Nobukiyo Yoshida, Noriko Sakurai, Yukinori Okada, Masayuki Satoh, Koji Takeshita, Motoki Nakai, Koichiro Abe, Mana Yoshimura and Kazuhiro Saito

Diagnostics 2025, 15(17), 2125; https://doi.org/10.3390/diagnostics15172125 - 22 Aug 2025

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Abstract

Cerebral perfusion single-photon emission computed tomography (SPECT) is a nuclear medicine imaging technique that uses radiopharmaceuticals that selectively accumulate in the brain. However, cerebral perfusion SPECT is typically interpreted through visual assessment, making the results susceptible to observer subjectivity and varying levels of [...] Read more.

Cerebral perfusion single-photon emission computed tomography (SPECT) is a nuclear medicine imaging technique that uses radiopharmaceuticals that selectively accumulate in the brain. However, cerebral perfusion SPECT is typically interpreted through visual assessment, making the results susceptible to observer subjectivity and varying levels of experience. The easy Z-score Imaging System (eZIS) is a software that quantitatively analyzes cerebral perfusion SPECT images obtained using 99mTc-ECD by comparing them with a normal database and applying Z-scores for quantification. The eZIS received regulatory approval in January 2015 and is currently used as an auxiliary tool for clinical diagnosis. The eZIS aids in diagnosing Alzheimer’s disease by quantifying the degree of cerebral blood flow reduction in the posterior cingulate gyrus, precuneus, and parietal lobe, which are characteristic regions affected by the disease. Additionally, it can assist in diagnosing Lewy body dementia by evaluating the “cingulate island sign,” a characteristic finding in which cerebral blood flow in the posterior cingulate gyrus and precuneus is relatively preserved compared with that in the occipital lobe. eZIS is thus extremely useful for dementia diagnosis. Full article

(This article belongs to the Section Medical Imaging and Theranostics)

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12 pages, 2843 KiB

Open AccessArticle

Unsupervised Machine Learning to Identify Patient Clusters and Tailor Perioperative Care in Colorectal Surgery

by Philip Deslarzes, He Ayu Xu, Jean Louis Raisaro, Martin Hübner and Fabian Grass

Diagnostics 2025, 15(17), 2124; https://doi.org/10.3390/diagnostics15172124 - 22 Aug 2025

Viewed by 51

Abstract

Background: The aim of the present study was to apply machine learning (ML) techniques to define clusters relating patient demographics, compliance, and outcome variables in colorectal enhanced recovery after surgery (ERAS) patients and improve data-driven, predictive decision-making. Methods: To uncover inherent [...] Read more.

Background: The aim of the present study was to apply machine learning (ML) techniques to define clusters relating patient demographics, compliance, and outcome variables in colorectal enhanced recovery after surgery (ERAS) patients and improve data-driven, predictive decision-making. Methods: To uncover inherent patient subgroups from the data without pre-defined labels, the unsupervised K-means clustering algorithm was utilized. This technique was selected for its effectiveness in partitioning patients into distinct groups by iteratively assigning them to the nearest cluster mean, thereby minimizing within-cluster variance across key variables. The top five recovery goals and the top 10 clinical outcome variables were defined based on clinical considerations (incidence and importance). In a second step, the cluster transition was traced by monitoring the transitions between clusters from demographic through compliance to outcome variables. Results: A total of 1381 patients were available for final analysis, revealing three clusters (low risk, n = 490, 36%; intermediate risk, n = 157, 11%; and high risk, n = 734, 53%) for demographic, two clusters (high compliance, n = 1011, 73%, and low compliance n = 370, 27%) for perioperative, and two clusters (good and poor outcomes) for the top five recovery goals and the top 10 clinical outcomes, respectively. The cluster transition for the top five recovery goals and the top 10 clinical outcomes revealed that most patients (488/490, 99.6%) of the low-risk demographic cluster had high perioperative compliance, and over 90% of them had favorable functional and clinical outcomes. Of the 2/3 of intermediate risk patients who had poor perioperative compliance, over 40% had a poor functional recovery, whereas 83% had good clinical outcomes. Of the high-risk demographic group, 100% (734/734) had low perioperative compliance, and over 40% of them had poor functional recovery. Conclusions: This ML-based analysis of demographic, compliance, and recovery clusters and associated cluster transition allowed us to identify patient clusters as a first step to tailored ERAS protocols aiming to improve compliance and outcomes. Full article

(This article belongs to the Special Issue Advancing Clinical Diagnosis with Artificial Intelligence: Applications, Challenges, and Future Directions)

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11 pages, 840 KiB

Open AccessCase Report

Single-Session Bilateral Genicular Artery Embolization for Knee Osteoarthritis via Brachial Access: A Case Report and Literature Review

by Andrei Marian Feier, Florin Bloj, Octav Marius Russu, Andrei Bloj and Tudor Sorin Pop

Diagnostics 2025, 15(17), 2123; https://doi.org/10.3390/diagnostics15172123 - 22 Aug 2025

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Abstract

Background/Objectives: Knee osteoarthritis (OA) significantly affects quality of life and poses substantial treatment challenges in patients with severe comorbidities that contraindicate total knee arthroplasty. Transarterial periarticular embolization (TAE) has developed as a minimally invasive alternative targeting pathological periarticular hypervascularity. Bilateral embolization in a [...] Read more.

Background/Objectives: Knee osteoarthritis (OA) significantly affects quality of life and poses substantial treatment challenges in patients with severe comorbidities that contraindicate total knee arthroplasty. Transarterial periarticular embolization (TAE) has developed as a minimally invasive alternative targeting pathological periarticular hypervascularity. Bilateral embolization in a single session has not yet been clearly documented. This case report describes the application of bilateral genicular artery embolization using bioresorbable gelatin microspheres. Case report: A 68-year-old male patient with severe bilateral knee OA and multiple cardiovascular comorbidities underwent simultaneous bilateral TAE using Nexsphere-F microspheres (100–300 µm). Embolization targeted hypervascular genicular branches identified through digital subtraction angiography preserving normal capsular and osseous perfusion. Results: At one-month follow-up, the patient’s pain score decreased dramatically (VAS from 8/10 to 2/10), accompanied by marked functional improvement (WOMAC score: from 64 to 84; KOOS score: from 49 to 72). No intraoperative or postoperative complications occurred and the patient required no analgesics post-procedure. Conclusions: Bilateral, same-session genicular artery embolization using bioresorbable gelatin microspheres provided short-term clinical benefits in a patient with advanced knee OA contraindicated for surgery. Full article

(This article belongs to the Special Issue Challenges in Monitoring and Diagnosis in Medical Sciences)

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12 pages, 332 KiB

Open AccessArticle

Comparison of Bilateral Versus Unilateral Transversus Abdominis Plane Block Combined with Spinal Anesthesia in Laparoscopic Appendectomy: A Retrospective Observational Study

by Abdulhakim Şengel, Evren Büyükfırat, Selçuk Seçilmiş, Nuray Altay, Ahmet Atlas and Mahmut Alp Karahan

Diagnostics 2025, 15(17), 2122; https://doi.org/10.3390/diagnostics15172122 - 22 Aug 2025

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Abstract

Background/Objectives: Laparoscopic appendectomy (LsA) is a standard acute surgical procedure typically performed under general anesthesia (GA). However, GA is associated with side effects such as hemodynamic instability and postoperative nausea/vomiting. Regional anesthesia (RA) has gained attention as an effective alternative in such surgeries, [...] Read more.

Background/Objectives: Laparoscopic appendectomy (LsA) is a standard acute surgical procedure typically performed under general anesthesia (GA). However, GA is associated with side effects such as hemodynamic instability and postoperative nausea/vomiting. Regional anesthesia (RA) has gained attention as an effective alternative in such surgeries, as it reduces surgical stress responses, provides adequate postoperative analgesia, and promotes early mobilization. This study evaluates the effectiveness of the combined use of spinal anesthesia (SA) and transversus abdominis plane block (TAPB) in LsA procedures. Methods: This retrospective observational study included 220 patients who underwent LsA between 2020 and 2023. Patients were divided into two groups: Group 1 (n = 110) received bilateral TAPB, and Group 2 (n = 110) received unilateral TAPB, both under SA. Postoperative pain was assessed using the Visual Analog Scale (VAS), and outcomes such as time to first analgesic requirement, analgesic consumption, and patient satisfaction were recorded. Results: This study evaluated the effects of SA combined with TAPB in LsA. Bilateral TAPB significantly prolonged the time to first analgesic request (13.7 vs. 12.1 h; p = 0.001) and reduced analgesic requirements (p = 0.008) compared to unilateral TAPB. VAS scores were significantly lower in Group 1 at the 9th and 12th hours postoperatively (p = 0.003 and p = 0.039). Although overall satisfaction scores were similar, a higher proportion of patients in Group 1 reported being “very satisfied” or “excellent” (55.5% vs. 42.7%). Conclusions: The combination of spinal anesthesia and bilateral TAPB is a safe and effective anesthetic strategy for LsA. Compared to unilateral TAPB, it offers superior postoperative analgesia and improved patient satisfaction. Full article

(This article belongs to the Special Issue Clinical Diagnosis and Management in Anesthesia and Pain Medicine)

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12 pages, 965 KiB

Open AccessArticle

Clinical Characteristics and Survival of Patients with Idiopathic Pulmonary Fibrosis: Analysis of the Serbian Cohort from the EMPIRE Registry

by Sanja Dimic-Janjic, Mihailo Stjepanovic, Slobodan Belic, Dragan Vukosavljevic, Ivan Milivojevic, Nikola Trboljevac, Nikola Nikolic, Slavko Stamenic, Maja Stojanovic, Kristina Stosic, Martina Koziar Vasakova, Ruza Stevic, Nikola Colic, Katarina Lukic, Miroslav Ilic, Lidija Isovic, Nikola Maric, Spasoje Popevic, Violeta Vucinic-Mihailović, Svetlana Kasikovic Lecic, Slavica Mojsilovic, Tatjana Pejcic, Dragana Jovanovic and the Serbian EMPIRE Investigators Show full author list Hide full author list

Diagnostics 2025, 15(17), 2121; https://doi.org/10.3390/diagnostics15172121 - 22 Aug 2025

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Abstract

Background/Objectives: Idiopathic pulmonary fibrosis (IPF) registries are established to enhance understanding of its natural history. Methods: Serbia (RS) participated in the EMPIRE (European Multi-Partner IPF Registry) from June 2015 to October 2022, involving four centers. The registry included patients over 18 [...] Read more.

Background/Objectives: Idiopathic pulmonary fibrosis (IPF) registries are established to enhance understanding of its natural history. Methods: Serbia (RS) participated in the EMPIRE (European Multi-Partner IPF Registry) from June 2015 to October 2022, involving four centers. The registry included patients over 18 diagnosed with IPF based on the 2011 international criteria. We aimed to gather key clinical, functional, and survival data, along with treatment information for IPF patients in RS, using a centralized electronic case report for consistency. Results: 188 RS patients participated (median age at diagnosis 65, 63.8% male, 51% smoking history, 56% radiological usual interstitial pneumonia (UIP) pattern). At the diagnosis, median forced vital capacity (FVC) was 73.7% and diffusion capacity for carbon monoxide (DL_CO) was 38%. At initiation of antifibrotic therapy, median FVC was 73.2% (71.5% for deceased, 75.8% for survivors (p = 0.455), and DL_CO was 33.8% (19.9% for deceased, and 35.6% for survivors (p = 0.046)). The median long-term survival from diagnosis was 29.4 months (95% CI: 22.6–36.2 months), and 9.4 months (95% CI: 5.9–12.9 months) from the initiation of therapy, with no difference in the duration of antifibrotic treatment between survivors and deceased (p = 0.598). Conclusions: The RS EMPIRE cohort represents a younger, less comorbid population with fewer smokers and more probable UIP, factors linked to a favorable prognosis. Nevertheless, survival was poorer than expected, mainly due to advanced disease severity at the time of antifibrotic initiation, as indicated by lower DL_CO. These findings highlight the importance of earlier diagnosis and treatment before significant physiological decline to improve outcomes. Full article

(This article belongs to the Special Issue Respiratory Diseases: Diagnosis and Management)

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15 pages, 303 KiB

Open AccessReview

A Multidisciplinary Approach to Obesity Hypoventilation Syndrome: From Diagnosis to Long-Term Management—A Narrative Review

by Mara Andreea Vultur, Bianca Liana Grigorescu, Dragoș Huțanu, Edith Simona Ianoși, Corina Eugenia Budin and Gabriela Jimborean

Diagnostics 2025, 15(17), 2120; https://doi.org/10.3390/diagnostics15172120 - 22 Aug 2025

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Abstract

Obesity Hypoventilation Syndrome (OHS), also known as Pickwickian syndrome, is a complex disorder characterized by obesity (BMI > 30 kg/m²), daytime hypercapnia (PaCO₂ ≥ 45 mmHg), and sleep-disordered breathing, primarily affecting individuals with severe obesity. Its diagnosis requires the exclusion [...] Read more.

Obesity Hypoventilation Syndrome (OHS), also known as Pickwickian syndrome, is a complex disorder characterized by obesity (BMI > 30 kg/m²), daytime hypercapnia (PaCO₂ ≥ 45 mmHg), and sleep-disordered breathing, primarily affecting individuals with severe obesity. Its diagnosis requires the exclusion of other causes of alveolar hypoventilation and involves comprehensive assessments, including clinical history, physical examination, pulmonary function tests, arterial blood gases, and sleep studies. The pathophysiology of OHS involves mechanical constraints from excessive adipose tissue, diminished central respiratory drive often linked to leptin resistance, mitochondrial dysfunction, and oxidative stress, all contributing to impaired ventilation and systemic inflammation. The condition often coexists with obstructive sleep apnea (OSA), exacerbating nocturnal hypoxia and hypercapnia, which can lead to severe cardiopulmonary complications such as pulmonary hypertension and right-sided heart failure. Epidemiologically, the rising global prevalence of obesity correlates with an increased incidence of OHS, yet underdiagnosis remains a significant challenge, often resulting in critical presentations like acute hypercapnic respiratory failure. Management primarily centers on non-invasive ventilation modalities like CPAP and BiPAP, with an emphasis on individualized treatment plans, continuous monitoring, and addressing comorbidities such as hypertension and diabetes. Pharmacological interventions are still evolving, focusing on supportive care and metabolic regulation. Long-term adherence, psychological factors, and complications like ventilator failure or device intolerance highlight the need for ongoing multidisciplinary management. Overall, advancing our understanding of OHS’s multifactorial mechanisms and optimizing tailored therapeutic strategies are crucial for improving patient outcomes and reducing mortality associated with this increasingly prevalent syndrome. Full article

(This article belongs to the Special Issue Advances in Pulmonary and Critical Care Medicine: Diagnosis and Management)

14 pages, 1412 KiB

Open AccessArticle

The Diagnostic and Prognostic Value of ¹⁸F-FDG PET/MR in Hypopharyngeal Cancer

by Cui Fan, Xinyun Huang, Hao Wang, Haixia Hu, Jichang Wu, Xiangwan Miao, Yuenan Liu, Mingliang Xiang, Nijun Chen and Bin Ye

Diagnostics 2025, 15(17), 2119; https://doi.org/10.3390/diagnostics15172119 - 22 Aug 2025

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Abstract

Objective: To evaluate the diagnostic performance of fluorine 18 fluorodeoxyglucose positron emission tomography/magnetic resonance imaging (¹⁸F-FDG PET/MR) in the preoperative staging of hypopharyngeal cancer (HPC), compare it with conventional enhanced computed tomography (CT) and MR, and further explore the prognostic value [...] Read more.

Objective: To evaluate the diagnostic performance of fluorine 18 fluorodeoxyglucose positron emission tomography/magnetic resonance imaging (¹⁸F-FDG PET/MR) in the preoperative staging of hypopharyngeal cancer (HPC), compare it with conventional enhanced computed tomography (CT) and MR, and further explore the prognostic value of its metabolic and diffusion metrics for HPC. Methods: This retrospective study included 33 patients with pathologically confirmed HPC. All patients underwent preoperative ¹⁸F-FDG PET/MR, CT, and MR examination. The staging performance of the three modalities was evaluated using pathological staging as a reference. Additionally, metabolic indicators and diffusion-related parameters from PET/MR were collected to investigate their impact on larynx preservation and survival. Results: PET/MR demonstrated accuracies of 90.9% and 71.4% in the preoperative T and N staging, respectively, significantly higher than those of CT (54.5%, p = 0.001; 42.9%, p = 0.021) and MR (66.7%, p = 0.016; 42.9%, p = 0.021). On the whole, significant differences emerged in the maximum standard uptake value (SUVmax), metabolic tumor volume (MTV), minimum apparent diffusion coefficient (ADCmin), and mean ADC (ADCmean) and combined ratios across different T stages, while SUVmax, mean SUV (SUVmean), total lesion glycolysis (TLG), and MTV varied significantly across different N stages. The ADCmin and ADCmean showed good predictive capability for larynx preservation, with AUCs of 0.857 and 0.920 (p < 0.05), respectively. In Cox multivariate analysis of overall survival, high-level ADCmean (p = 0.004) and low-level TLG/ADCmean (p = 0.022) were significantly associated with better survival. Conclusion: In HPC, ¹⁸F-FDG PET/MR imaging significantly surpasses CT and MR in preoperative diagnostic staging. Its diffusion-related parameters have substantial prognostic value, with high ADC values associated with larynx preservation. ADCmean and TLG/ADCmean are potential prognostic indicators for HPC. Full article

(This article belongs to the Special Issue Multimodal Imaging: Enhancing Precision Medicine Across Diverse Clinical Pathways)

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24 pages, 831 KiB

Open AccessSystematic Review

Motor Coordination Assessment in Autism Spectrum Disorder: A Systematic Review

by Adriana Piccolo, Chiara Raciti, Marcella Di Cara, Simona Portaro, Rosalia Muratore, Carmela De Domenico, Alessia Fulgenzi, Carmela Settimo, Angelo Quartarone, Francesca Cucinotta and Angelo Alito

Diagnostics 2025, 15(17), 2118; https://doi.org/10.3390/diagnostics15172118 - 22 Aug 2025

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Abstract

Background/Objectives: Motor difficulties are commonly reported in autistic individuals, but they are not currently part of the diagnostic criteria. A better understanding of how motor impairments are assessed in this population is critical to inform clinical practice and intervention. This systematic review aims [...] Read more.

Background/Objectives: Motor difficulties are commonly reported in autistic individuals, but they are not currently part of the diagnostic criteria. A better understanding of how motor impairments are assessed in this population is critical to inform clinical practice and intervention. This systematic review aims to evaluate the existing literature on motor skill assessment in autistic children and adolescents, focusing specifically on studies that employed standardized and validated clinical motor assessment tools. Methods: Registered on PROSPERO (CRD42025637880), a systematic search was conducted on PubMed, Science Direct, and Web of Science until 31 December 2024. The review includes: (a) studies published in peer-reviewed journals; (b) randomized controlled trials (RCTs) and observational studies; (c) evaluations of motor difficulties using standardized and validated clinical assessments specifically designed to measure motor skills or coordination abilities; (d) participants diagnosed with ASD based on the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV or DSM-5) or the International Classification of Diseases (ICD-9 or ICD-10); and (e) participants aged ≤18 years; Results: Twenty-two studies met the inclusion criteria. Most studies reported significant motor impairments across various domains, including balance, manual dexterity, and coordination. However, there was substantial variability in the severity of motor deficits and in the assessment tools used. Methodological heterogeneity limited direct comparison across studies. Conclusions: Motor impairments are common in autistic children and adolescents; however, current assessment tools show limitations and require adaptations. The findings underscore the need for autism-specific motor assessments to improve diagnostic accuracy and guide personalized interventions. Full article

(This article belongs to the Special Issue Advances in the Diagnosis and Management of Neuropsychiatric Disorders—2nd Edition)

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Diagnostics, Volume 15, Issue 17 (September-1 2025) – 20 articles

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