Search Results (456)

Background: Cognitive and mood impairments are common in Stroke Survivors (SSs), leading to worse outcomes and poorer quality of life measures. Current methods of assessment of mood and cognitive performance are time consuming and rely on health care professionals. This makes assessment in hyper-acute stroke units (HASU) difficult. Here we describe the use of CognoStroke, an automated assessment of mood and cognitive impairment in the HASU. Methods: Using conversational interaction delivered through a virtual, web-based agent (CognosStroke), speech analysis was performed using three large language models (GPT2, Facebook.BART-based, and RobERTa-base) to classify thresholds levels of MoCA (threshold: 22,23,24,25,26), GAD-7 (above 5 and 10), and PHQ-9 (above 5 and 10). Results are presented as Macro F1-scores (MFSs). Patients were asked about barriers to using CogonStroke. Results: A total of 151 SSs agreed to perform CognoStroke, with 75 completing the full assessment. The best MFS of 0.723 was achieved using CognoStroke for thresholding a MoCA of 26. The MFS improved further to 0.783 when single prompts or a smaller combination of prompts from the CognoStroke bank were used. For the PHQ-9 a MFS of 0.686 was achieved thresholding above 10 and on the GAD-7 a MFS of 0.617 was achieved for thresholding above 5. Single prompts or smaller prompt combinations again achieved higher MFSs. Discussion: CognoStroke has potential to classify SSs into groups with high or low cognitive and mood thresholds, highlighting benefits for improving post-stroke cognitive assessment. Challenges of automated assessment on the HASU include patient computer access, anxiety in using technology, post-stroke fatigue, and computer literacy. Full article

Background and Objectives: Non-pharmaceutical interventions such as cognitive training, transcranial electrical stimulation (tES), and repetitive transcranial magnetic stimulation (rTMS) have shown promise in improving cognitive outcomes in Alzheimer’s disease (AD) and dementia. However, the long-term effects of repeated non-invasive interventions remain unknown. This study investigated whether repeated non-invasive interventions administered over a span of 1 to 3 years were associated with slower cognitive decline compared to typical AD progression, and whether longer no-treatment intervals between treatments predicted greater post-treatment decline. Materials and Methods: Seventy-three participants living with dementia or AD received 2 to 9 blocks of non-invasive treatments (including tES, rTMS, cognitive training). Alzheimer’s Disease Assessment Scale-Cognitive subscale (ADAS-Cog) scores were collected longitudinally up to 3 years (36 months), across multiple intervention and assessment sessions. A mixed-effects model was used to estimate the rate of cognitive decline, adjusting for baseline age, sex, and baseline cognition (MoCA) with participants being the random effect. The observed rate of change was compared to a meta-analysis estimate of AD progression. Additionally, a linear mixed-effects model using robust sandwich estimation of standard errors was employed to assess whether the no-treatment interval was associated with changes in ADAS-Cog scores. Results: Participants showed a significantly slower rate of cognitive decline than expected from the AD reference rate (p < 0.001), with many demonstrating stabilized ADAS-Cog scores during their respective treatment periods, ranging from 1 to 3 years. Medication analyses revealed no significant effect of AD medications, antidepressants, antihypertensives, or cholesterol-lowering agents on cognitive outcomes. Furthermore, longer no-treatment intervals were significantly associated with greater post-treatment decline (p < 0.001). Conclusions: Repeated non-invasive treatments seem to slow the rate of cognitive decline in individuals living with dementia when administered over a prolonged period. This study provides evidence supporting the feasibility and effects of personalized long-term non-invasive treatment strategies for dementia. Full article

In an aging society, solving problems associated with the diagnosis and treatment of dementia-related diseases represents a serious challenge. The aim of the study was to evaluate the possibility of applying molecular biology methods to test polymorphisms recognized in the global literature as potentially useful in assessing the risk of developing dementia in a group of patients with hyperlipidemia. A sample of 203 patients: 109 diagnosed with both dementia and hyperlipidemia, 94 with hyperlipidemia, and 101 individuals as an allele frequency control group—were genotyped. Additional data about cognitive decline and neuropsychological assessment were collected. Among all the studied polymorphisms, the frequency of the ABCA1 rs2230806 polymorphism differed between the analyzed groups. The GG genotype (p = 0.0002, RR = 3.22, CI = 1.63 ÷ 6.37) and the G allele (p = 0.0007, RR = 1.53, CI = 1.19 ÷ 1.97) were more frequent in patients diagnosed with dementia, specifically in those with Alzheimer’s disease. Furthermore, the GG genotype was more common in individuals with a shorter disease duration and lower scores on the Montreal Cognitive Assessment (MoCA) scale, and consequently, with greater cognitive function deficits during early stages of the diagnostic process. ABCA1 rs2230806 genotyping is a potential marker for the early identification of dementia risk in patients with hyperlipidemia, which supports the validity of exploring options for incorporating diagnostics based on molecular biology methods. Full article

Background/Objectives: Mild cognitive impairment (MCI) represents an intermediate stage between normal ageing and dementia, with a high annual progression rate. Despite its clinical relevance, no pharmacological treatment has been definitively approved for this condition; however, multiple pharmacological and non-pharmacological strategies have been investigated for their potential benefits. This systematic review assessed the effectiveness of both types of interventions in adults with MCI, aiming to identify effective strategies to preserve cognitive function. Methods: A systematic search (2017–2025) was conducted in PubMed, Scopus, ScienceDirect, SpringerLink, and WOS, following PRISMA guidelines. Randomised controlled trials and quasi-experimental studies involving adults aged ≥ 50 years with a diagnosis of MCI were included. Outcomes were evaluated in terms of cognitive, functional, behavioural, and quality-of-life improvements. Risk of bias was assessed using the RoB 2 and ROBINS-I tools. Results: Of 108,700 records screened, 40 studies were included. Non-pharmacological interventions, such as cognitive training (conventional, computerised, or virtual reality-based), consistently improved memory, attention, and executive functions (e.g., MoCA: +3.84 points; p < 0.001). Transcranial magnetic stimulation combined with physical exercise also demonstrated significant benefits (p = 0.025). Among pharmacological treatments, only vortioxetine and choline alfoscerate showed modest improvements; cholinesterase inhibitors had limited effects and frequent adverse events. Complementary therapies (yoga, probiotics, and acupuncture) yielded promising outcomes but require further validation. Conclusions: Non-pharmacological strategies, particularly cognitive training and physical exercise, emerge as the most effective and safe approaches for managing MCI. The inclusion of pharmacological interventions with preliminary evidence of benefit should be considered within a personalised, multimodal approach, while recognising the current absence of approved drug treatments for MCI. Further research is needed in underrepresented populations, such as those in Latin America. Full article

Background/Objectives: The gluten-free diet (GFD) may be anti-inflammatory in treating Hashimoto’s thyroiditis (HT), but the studies are inconsistent. Methods: To determine the effects of the GFD in non-celiac HT, we included randomized controlled trials from the following databases: Cochrane Central, Embase, Lilacs, Medline, Scopus, and Web of Science. The study was registered at Prospero (no. CRD42024566034). The outcomes assessed included free triiodothyronine (fT3), free tetraiodothyronine (fT4), thyroid stimulating hormone (TSH), Anti-thyroid Peroxidase (TPO), anti-thyroglobulin (Tg), C-reactive protein (CRP), body weight (BW), body mass index (BMI) and adverse effects. Sensitivity, subgroup, meta-regression, bias risk, and evidence analyses’ certainty were also assessed. Results: Only three studies were meta-analyzed, comprising 110 participants. The pooled data revealed the evidence was very uncertain about the effect of GFD compared to the control group on mean differences (MD) of TSH (MD −0.63 uIU/mL; 95% CI −1.63 to 0.36; p = 0.21), fT3 (MD −0.18 pg/mL; 95% CI −0.50 to 0.14; p = 0.28), fT4 (MD −0.33 ng/dL; 95% CI −0.89 to 0.23; p = 0.24), anti-Tg (MD −10.07 IU/mL; 95% CI −17.73 to −2.42; p = 0.010), anti-TPO (MD 76.19 IU/mL; 95% CI 46.86 to 108.51; p < 0.00001), CRP (MD −0.12 IU/mL; 95% CI −0.30 to 0.07), BW (MD −1.46 kg; 95% CI −6.70 to 3.77), and BMI (MD −1.80 kg/m2; 95% CI −3.30 to −0.31). The quality of evidence was rated as having serious methodological concerns to extremely serious imprecision. Conclusions: The GFD decreased anti-Tg and increased the anti-TPO levels, both significantly. There were no significant results on fT3, fT4, and TSH. Full article

Background/Objectives: Cardiac surgery, particularly procedures performed with cardiopulmonary bypass (CPB), carries a high risk of neurological complications, including postoperative delirium (POD), which affects 16–73% of patients and increases the likelihood of long-term cognitive impairment. Brain-derived neurotrophic factor (BDNF), a neurotrophin involved in neuronal function, synaptic plasticity, and inflammatory regulation processes, including its Val66Met polymorphism, has been implicated as a potential predictor of POD. This study aimed to evaluate the relationship between perioperative plasma BDNF levels, the BDNF Val66Met polymorphism, and the incidence of POD in patients undergoing elective cardiac surgery with CPB. Methods: This prospective observational single-center study enrolled 287 adults scheduled for elective isolated coronary artery bypass grafting (CABG) with CPB, of whom 107 met all inclusion criteria for final analysis. Exclusion criteria included urgent surgery and pre-existing cognitive or psychiatric disorders. Preoperative evaluation included cognitive testing (MoCA), laboratory and biochemical analysis, and genotyping for BDNF Val66Met. Postoperatively, patients were assessed for POD using the CAM-ICU scale for the first three consecutive days. Cognitive function (using MoCA) and other neurological complications were evaluated during hospitalization, at 30-day and 12-month follow-up. Associations between biomarkers, genetic factors, and clinical outcomes were analyzed. Results: POD occurred in 19.6% of patients who were older, had higher EuroSCORE II, greater coronary disease burden, more frequent prior stroke and chronic kidney disease, and lower neutrophil counts. POD was significantly associated with prolonged hospital stay, need for continuous renal replacement therapy, and reoperation. The BDNF Val66Met polymorphism was present in 31.8% of patients but was not associated with POD, although carriers exhibited higher plasma BDNF concentrations across all time points. Conclusions: Perioperative plasma BDNF concentrations and the BDNF Val66Met polymorphism were not independently associated with the occurrence of POD in elective CABG patients. However, POD was significantly linked to prolonged hospitalization and reoperations. Neurological complications remain an important challenge in cardiac surgery, emphasizing the need for further research and early identification strategies to improve postoperative outcomes. Full article

Objective: This study aims to examine activity engagement across stages of cognitive health among older adults. Methods: We used a cross-sectional study analysis of baseline data collected as part of the prospective Microbiome in Aging of Gut and Brain (MiaGB) longitudinal study; the study period was August 2022 to December 2023. Health history and activity engagement questionnaires and the Montreal Cognitive Assessment (MoCA) were used to examine the study objective. One-way ANOVA and chi-squared tests, with Bonferroni post hoc analyses, assessed group differences. Results: The weighted samples reflected 417 participants: 54% females, 70.7% White, with an average age of 72 (±8.7) years, 90% with at least high school education, and 75% self-reported medium income status. Results suggested that individuals who scored ≤17 points on the MoCA had an average age of 84 years, were White, non-Hispanic, female, had less than a high school education, and medium income status (p < 0.001). Significant differences were found in active engagement in all health behaviors (p < 0.05). The frequency of engagement in activities was all statistically significant (p < 0.05), except the frequency of looking after grandchildren (p > 0.05). Older adults who scored ≤17 MoCA points reported higher rates of hypertension, osteoarthritis, and depression compared with individuals who scored higher on the MoCA assessment. Conclusions: Older adults with lower cognitive status report a higher rate of clinical ailments and have less engagement in meaningful activities. We should promote meaningful activities to improve the quality of life in older adults with decreased cognition. We make recommendations for appropriate modifications for activity engagement across cognitive health levels. Full article

The LRRK2+ SAA− cohort of Parkinson’s disease (PD), characterized by the absence of hallmark α-synuclein pathology, remains under-explored. This limits opportunities for early detection and targeted intervention. This study analyzes data from this under-characterized subgroup and compares it with the LRRK2+ SAA+ cohort using longitudinal data from the Parkinson’s Progression Markers Initiative (PPMI). The PPMI dataset includes 115 LRRK2+ patients (70 SAA+, 45 SAA−) across 52 features encompassing clinical assessments, cognitive scores, DaTScan SPECT imaging, and motor severity. DaTScan binding ratios were selected as imaging-based indicators of early dopaminergic loss, while NP3TOT (MDS-UPDRS Part III total score) was used as a gold-standard clinical measure of motor symptom severity. Linear mixed-effects models were then applied to evaluate longitudinal predictors of DaTScan decline and NP3TOT progression, and statistical analyses of group comparisons revealed distinct drivers of symptoms differentiating SAA− from SAA+ patients. In SAA− patients, a decline in DaTScan was significantly associated with thermoregulatory impairment (p-value = 0.019), while NP3TOT progression was predicted by constipation (p-value = 0.030), sleep disturbances (p-value = 0.046), and longitudinal time effects (p-value = 0.043). In contrast, SAA+ patients showed significantly lower DaTScan values compared to SAA− (p-value = 0.0004) and stronger coupling with classical motor impairments, including freezing of gait (p-value = 0.016), rising from a chair (p-value = 0.007), and turning in bed (p-value = 0.016), along with cognitive decline (MoCA clock-hands test, p-value = 0.037). These findings support the hypothesis that LRRK2+ SAA− patients follow a distinct pathophysiological course, where progression is influenced more by autonomic and non-motor symptoms than by typical motor dysfunction. This study establishes a robust, multimodal modeling framework for examining heterogeneity in genetic PD and highlights the utility of combining DaTScan, NP3TOT, and symptom-specific features for early subtype differentiation. These findings have direct clinical implications, as stratifying LRRK2 carriers by SAA status may enhance patient monitoring, improve prognostic accuracy, and guide the design of targeted clinical trials for disease-modifying therapies. Full article

Background: Obstructive sleep apnea (OSA) impacts daytime alertness, mood, cognition, and quality of life (QoL). Initial alterations in these patient-reported outcomes (PROs) following CPAP therapy, along with their association with adherence and residual respiratory events, are only partially understood. Materials and methods: We conducted a retrospective, observational study from January 2024 to May 2025 involving adult patients with OSA. Standardized assessments were performed at baseline and at six months following the initiation of CPAP: Epworth Sleepiness Scale (ESS), WHOQOL-BREF, MoCA, DASS-21, GAD-7, and PHQ-9. The primary endpoint was the change in Patient-Reported Outcomes (PROs) and cognitive performance. The second was to identify associations between these improvements and the degree of adherence to CPAP therapy and residual AHI. Results: Seventy-two patients (median age, 57; 65.3% male) with moderate to severe OSA had a baseline median AHI of 34.5/h, ODI of 35.5/h, and a mean nocturnal SpO₂ of 92.4%. The initial burden was high: median ESS was 14, indicating excessive daytime sleepiness (EDS), present in 68.9%; median MoCA was 24, with 98.6% scoring below 26; median PHQ-9 was 7; median GAD-7 was 5; and 56.8% and 47.9% scored below 50 in physical and psychological domains of WHOQOL-BREF, respectively. After 6 months, group averages showed improvement: ESS decreased to 8.6 ± 3.7, with a 27.0% residual EDS; PHQ-9 was 7.1 ± 4.5; GAD-7 was 6.2 ± 4.1; and MoCA increased to 25.3 ± 2.7, although 48.6% still showed impairment. WHOQOL-BREF scores improved across domains: physical 58.7 ± 14.2, psychological 61.5 ± 13.6, social 63.2 ± 15.4, and environmental 59.8 ± 14.7, with fewer scores below 50 (physical 23.0%, psychological 18.9%). CPAP adherence was high, with a mean of 87.7% and a median of 95%, predicting a greater ESS reduction (p = 0.027) and showing a trend toward improvement in PHQ-9 scores (ρ = 0.218; p = 0.066). Residual respiratory indices at 6 months (AHI, ODI, SpO₂) did not correlate with PRO or cognitive scores at the same time point (all p > 0.16), nor with their change scores. Conclusions: Over the course of six months, CPAP therapy led to notable improvements in sleepiness, mood, anxiety, cognition, and overall quality of life. Nonetheless, many patients continued to face residual problems, mainly excessive daytime sleepiness (EDS) and cognitive challenges. The positive effects were more closely associated with how well patients adhered to the treatment than with remaining levels of residual AHI or ODI. Full article

Background/Objectives: Shift work in healthcare professionals affects performance in high cognitive processing, especially in complex environments. However, the beneficial effects that working in complex environments may have on auditory–cognitive processing remain unknown. These professionals face increased challenges in decision-making due to factors such as noise exposure and sleep disturbances, which may lead to the development of enhanced auditory–cognitive resources. This study aims to investigate the associations between shift work and auditory–cognitive processing in middle-aged healthcare workers. Methods: Thirty middle-aged healthcare workers were equally allocated to a shift worker (SW) or a fixed-schedule worker (FSW) group. Performance on a cognitive test, and in pure-tone audiometry, speech in quiet and noise, and listening effort were used to explore whether correlations were specific to shift work. Results: Exploratory analyses indicated that shift workers tended to perform better in visuospatial/executive function, memory recall, memory index, orientation, and total MoCA score domains compared to fixed-schedule workers. In the SW group, hearing thresholds correlated with memory recall and memory index. In the FSW group, hearing thresholds correlated with orientation, memory index, and total MoCA score, while listening effort correlated with naming, and speech intelligibility in quiet correlated with total MoCA scores. Conclusions: These exploratory findings suggest that shift work may be linked to distinct auditory–cognitive patterns, with potential compensatory mechanisms in visuospatial/executive functions and memory among middle-aged healthcare workers. Larger, longitudinal studies are warranted to confirm whether these patterns reflect true adaptive mechanisms. Full article

Background: Demographic factors such as education, sex, and age can significantly influence cognitive test performance, yet their impact on the Montreal Cognitive Assessment (MoCA) and Rey Complex Figure (CF) test has not been fully characterized in large, cognitively normal samples. Understanding these effects is critical for refining normative standards and improving the clinical interpretation of neuropsychological assessments. Methods: Data from 926 cognitively healthy adults (MoCA ≥ 24) were analyzed using supervised machine learning classifiers and complementary statistical models to identify the most predictive MoCA and CF features associated with education, sex, and age, while including race as a covariate. Feature importance analyses were conducted to quantify the relative contributions of accuracy-based and time-based measures after adjusting for demographic confounding. Results: Distinct patterns emerged across demographic groups. Higher educational attainment was associated with longer encoding times and improved recall performance, suggesting more deliberate encoding strategies. Sex differences were most apparent in the recall of visuospatial details and language-related subtests, with women showing relative advantages in fine detail reproduction and verbal fluency. Age-related differences were primarily reflected in slower task completion and reduced spatial memory accuracy. Conclusions: Leveraging one of the largest reported samples of cognitively healthy adults, this study demonstrates that education, sex, and age systematically influence MoCA and CF performance. These findings highlight the importance of incorporating demographic factors into normative frameworks to enhance diagnostic precision and the interpretability of cognitive assessments. Full article

Background: Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system, which can lead to physical and cognitive disability, fatigue, depression, and sleep disturbance, all of which may impair quality of life (QoL). While the physical disability is widely known to influence the QoL, the relative contributions of cognitive impairment, fatigue, and sleep quality remain incompletely defined. Objectives: To evaluate the relationship between QoL, physical and cognitive disability, sleep quality, fatigue, and depression in people with MS (PwMS), and to explore phenotype-specific differences between relapsing and progressive forms. Methods: In this monocentric cross-sectional study, 112 PwMS underwent physical assessment (EDSS, MSFC), cognitive testing (SDMT, PASAT, MoCA, MMSE), and QoL evaluation (MSIS-29, EQ-5D, EQ-VAS, MSNQ). A subgroup of 29 patients also completed the Pittsburgh Sleep Quality Index (PSQI), Epworth Sleepiness Scale (ESS), Modified Fatigue Impact Scale (MFIS), and Beck Depression Inventory (BDI). Correlation and group analyses were performed. Results: Progressive MS patients showed greater physical disability (mean EDSS 5.8 vs. 2.6, p < 0.001), poorer cognitive performance, and lower QoL. Across the cohort, QoL strongly correlated with physical disability (EDSS) and cognitive performance (SDMT), with physical measures showing stronger associations. In relapsing MS, physical and cognitive impairment were linked to reduced QoL, whereas in progressive MS, physical disability predominated. In the sleep subgroup, poorer PSQI scores, longer sleep latency, and daytime sleepiness correlated with higher fatigue (MFIS), depressive symptoms (BDI), and reduced QoL (MSIS-29, EQ-5D). Conclusions: QoL in MS reflects the combined burden of physical disability, cognitive impairment, fatigue, depression, and poor sleep quality, with phenotype-specific patterns. While physical disability is the main QoL determinant in progressive MS, cognitive deficits with slowed processing speed play an important role in relapsing MS. Comprehensive, multidimensional assessment, including sleep and mood screening, may support individualized management strategies in MS. Full article

Background/Objective: Few treatment options improve symptoms and the quality of life of Parkinson’s disease (PD); more treatment choices are needed. This study examined the effectiveness of photobiomodulation therapy (PBMt) combined with exercise to improve PD symptoms and quality of life. Methods: Participants were randomised into Active (n = 32) or Sham (n = 31) PBMt groups. Stage 1 was an 8-week double-blind, randomised, placebo-controlled trial using either active or sham PBMt to the head, back of the neck and abdomen three times weekly at home, followed by a 4-week washout. Stage 2 was 8 weeks of active PBMt for all participants. In Stage 3, participants chose to continue active PBMt treatment (‘continuers’) or receive no PBMt treatment (‘non-continuers’) for up to 48 weeks. Participants continued vigorous exercise throughout the study. Participants were assessed on enrolment and after each stage. The primary outcome measure was timed up-and-go, with a range of secondary motor and non-motor outcomes, including UPDRS. Results: There was no significant difference between the Active and Sham Groups after Stages 1 or 2, apart from minimal increase in MoCA score/cognition (Sham Group) in Stage 1. After Stage 3, continuers showed a significant improvement in the primary outcome measure compared to non-continuers. Anxiety and the motor experiences of daily living (MDS-UPDRS Part II) were also significantly improved, while other outcomes approached significance, including MDS-UPDRS Total score (p = 0.062). Conclusions: As the largest study to date, results add increasing weight to previous clinical trials and highlight potential for at-home, scalable treatment as adjunctive therapy alongside medication and exercise. Full article

Background/Objectives: Mobility screening is standard practice in hospitalized geriatric patients, but clinical assessments alone may not fully capture functional capacity and related risks. This study aimed to describe the physical performance (gait analysis, postural stability and regulation) and clinical–functional status (e.g., Tinetti [TIN], Barthel Index [BI]) in geriatric inpatients, and to explore associations between measures from different domains. Methods: Fifty-five geriatric inpatients (mean age: 84.3 ± 5.47 years, range: 71–97; 49% female) underwent spatiotemporal gait analysis (inertial sensor system/RehaGait) and posturography (Interactive Balance System). Clinical assessments included TIN, BI, Montreal Cognitive Assessment (MoCA), Geriatric Depression Scale (GDS), Clinical Frailty Scale (CFS), and Numeric Rating Scale (NRS). Gait and postural data were compared with age-, sex-, and height-adjusted reference values. Results: Clinical data indicated a low fall risk (TIN: 24), moderate functional independence (BI: 54), and moderate frailty (CFS: 5). Deviations from reference values were more frequent in gait parameters (18/50%) than in postural parameters (6/17%), with postural stability consistently reduced. The largest differences for the geriatric patients compared with the reference gait data were found for stride length, walking speed, double and single support, roll-off angle, and landing angle. TIN showed the strongest correlation with walking speed (r = 0.47, 95% CI: 0.22–0.67), a relationship unaffected by gender (partial r = 0.52). Conclusions: Gait assessment revealed greater performance deficits than postural measures in this cohort. Full article

Background/Objectives: Few studies have comprehensively examined dental anomalies in adolescents with genetic syndromes. This study aimed to assess their prevalence, types, and clinical patterns in a diverse sample of genetically confirmed cases. Methods: We conducted a retrospective cross-sectional study of 213 patients aged 12 to 18 years with various genetic syndromes, using clinical data originally collected between 2011 and 2014 at a tertiary center. Clinical examinations were complemented by radiographs when available. Anomalies were categorized by type, and a disproportionality analysis (Rate of Occurrence Ratio, ROR) quantified risk relative to syndrome representation. Results: Dental anomalies were present in 68% of adolescents. The most common findings were hypodontia, taurodontism (9%), and enamel hypoplasia (8%). Nearly half of the patients exhibited combined patterns, with hypodontia–taurodontism as the most characteristic combination (14%). Prevalence was particularly high in trisomy-based (80%) and osteogenesis-related (100%) syndromes. Down syndrome showed the strongest association (ROR 3.95; 95% CI: 2.15–7.25), while some conditions such as Turner, Ehlers-Danlos, and Tuberous sclerosis displayed significantly lower rates. Conclusions: Dental anomalies are both highly prevalent and patterned in adolescents with genetic syndromes. Their co-occurrence and specificity suggest that they may serve as useful diagnostic markers in syndromic evaluation. Full article