Emre Kumral, Fatma Ece Çetin, Zeynep Deniz Çetin, Asya Ekici
{"title":"Visual and Cognitive Disorders Associated With Isolated Lingual Gyrus Infarctions.","authors":"Emre Kumral, Fatma Ece Çetin, Zeynep Deniz Çetin, Asya Ekici","doi":"10.1176/appi.neuropsych.20230182","DOIUrl":"https://doi.org/10.1176/appi.neuropsych.20230182","url":null,"abstract":"<p><strong>Objective: </strong>Isolated ischemic stroke of the lingual gyrus is uncommon. The authors evaluated the clinical, neuro-ophthalmological, and cognitive features of lingual gyrus infarctions.</p><p><strong>Methods: </strong>This study was carried out from January 1, 2012, to January 30, 2022, in a hospital's stroke, neuro-ophthalmology, and neuropsychology unit, in İzmir, Turkey. Various aspects of visual and cognitive functions of 10 patients with isolated lingual infarctions were analyzed. The authors used structural MRI data to contour ischemic areas by hand and used MRIcroGL software to convert these areas to binarized images.</p><p><strong>Results: </strong>Isolated lingual infarctions accounted for 3% of posterior cerebral artery territory infarctions. Two-thirds (N=7) of the patients had macular-sparing superior quadrantanopia with visuocognitive disturbances. One patient reported mild visual snow characterized by tiny flickering dots resembling static on an analog television screen. All six patients with right-sided lingual gyrus involvement had significant difficulties in visual memory, and three of four patients with left-sided lesions had difficulties in verbal memory. Three patients had achromatopsia, and two patients had mental color imagery impairment. One patient with topographagnosia had difficulty recognizing İzmir's landmarks and finding the city on a map.</p><p><strong>Conclusions: </strong>The lingual gyrus is a brain structure that appears to be critical for vision processing, color integration, face recognition, visual-verbal processing, mental visual imagery, dreaming, and encoding of visual memories. The most common cause of stroke in this region was arterial-to-arterial and cardiac emboli.</p>","PeriodicalId":16559,"journal":{"name":"Journal of Neuropsychiatry and Clinical Neurosciences","volume":" ","pages":"appineuropsych20230182"},"PeriodicalIF":2.9,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145301430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hamza Zarglayoun, Sherri Lee Jones, Victoria Light, Katerine Rousseau, Charlotte Teunissen, Simon Ducharme
{"title":"Serum Neurofilament Light as a Neuropsychiatric Disorder Screening Test in Psychiatric Emergency Settings.","authors":"Hamza Zarglayoun, Sherri Lee Jones, Victoria Light, Katerine Rousseau, Charlotte Teunissen, Simon Ducharme","doi":"10.1176/appi.neuropsych.20240228","DOIUrl":"https://doi.org/10.1176/appi.neuropsych.20240228","url":null,"abstract":"<p><strong>Objective: </strong>The authors evaluated serum neurofilament light chain (sNfL) as a blood-based biomarker to distinguish primary psychiatric disorders from psychiatric presentations of neurological or general medical etiology (i.e., neuropsychiatric disorders) in psychiatric emergency departments (PEDs), where rapid diagnosis is essential and access to advanced tests is often limited.</p><p><strong>Methods: </strong>Data were collected from 846 patients with psychiatric disorders (17% anxiety, 34% mood, 9% personality, 32% psychotic, and 7% substance use) and 20 patients with neuropsychiatric disorders (35% neurocognitive, 20% delirium, and 55% general medical causes). sNfL levels were measured with the SIMOA (Single Molecule Array) platform. Analysis of covariance and logistic regression were conducted to assess sNfL differences between psychiatric and neuropsychiatric patients. Receiver operating characteristic curve analysis was used to determine diagnostic accuracy, with Youden's index employed to identify optimal thresholds.</p><p><strong>Results: </strong>In analyses adjusted for age and sex, patients with neuropsychiatric disorders had significantly higher sNfL levels, compared with those with psychiatric disorders. The effect size was moderate (partial η<sup>2</sup>=0.24). Logistic regression confirmed that sNfL levels strongly predicted the diagnostic group. The optimal cutoff for sNfL was 30.6 pg/mL, with a sensitivity of 0.90 and specificity of 0.94. Subgroup analyses suggested that age-specific thresholds could improve diagnostic accuracy.</p><p><strong>Conclusions: </strong>sNfL is a promising biomarker for rapid differentiation in PEDs between primary psychiatric disorders and psychiatric conditions of general medical or neurological origins, potentially improving diagnostic accuracy and speed. Future research is needed with more diverse, prospective cohorts with a wider range of diseases to replicate the clinical utility of sNfL.</p>","PeriodicalId":16559,"journal":{"name":"Journal of Neuropsychiatry and Clinical Neurosciences","volume":" ","pages":"appineuropsych20240228"},"PeriodicalIF":2.9,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145301373","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Cristina Bleier, Ellen J Godena, Daniel Millstein, Andrew Guthrie, Caitlin Adams, Margaret Tuttle, Bruce Price, Sara A Finkelstein, David L Perez
{"title":"Predictors of Skills-Based Psychotherapy Outcomes for Functional Neurological Disorder: A Retrospective Cohort Study.","authors":"Cristina Bleier, Ellen J Godena, Daniel Millstein, Andrew Guthrie, Caitlin Adams, Margaret Tuttle, Bruce Price, Sara A Finkelstein, David L Perez","doi":"10.1176/appi.neuropsych.20250011","DOIUrl":"https://doi.org/10.1176/appi.neuropsych.20250011","url":null,"abstract":"<p><strong>Objective: </strong>Skills-based psychotherapy is an evidence-based treatment for functional neurological disorder (FND). However, evidence supporting its real-world efficacy is limited, and no consensus exists on optimal treatment duration. The authors examined how baseline neuropsychiatric characteristics are related to outcomes among patients with FND who were receiving psychotherapy.</p><p><strong>Methods: </strong>This retrospective cohort included 97 patients with FND who received outpatient skills-based psychotherapy between 2019 and 2023. FND symptoms included motor (79%), seizure (32%), and speech (24%) presentations. Baseline characteristics and clinician-estimated outcomes were extracted from medical records. Univariate screenings were followed by multivariate regression analyses to identify predictors of improvement.</p><p><strong>Results: </strong>At the end of treatment (mean±SD number of sessions=20.0 ± 17.1), 64 patients (66%) had chart-documented evidence of improvement; 20 had complete or near-complete symptom resolution. In a logistic regression, improvement was positively associated with full-time employment and negatively associated with being in a concurrent psychotherapy. After adjustment of analyses for baseline demographic factors and FND subtypes, the number of sessions attended positively correlated with improvement. Of 43 patients who received >16 sessions, 56% showed additional improvement with more treatment. Factors associated with continued improvement in univariate screenings were longer illness duration, cognitive symptoms at baseline, and not being in concurrent psychotherapy, the latter independently predicting continued improvement in prolonged treatment.</p><p><strong>Conclusions: </strong>These findings indicate that skills-based psychotherapy is effective for some patients with FND in real-world outpatient settings. Prolonged treatment benefits a subgroup of patients with FND, highlighting the need for prospective studies to refine and individualize psychotherapy protocols.</p>","PeriodicalId":16559,"journal":{"name":"Journal of Neuropsychiatry and Clinical Neurosciences","volume":" ","pages":"appineuropsych20250011"},"PeriodicalIF":2.9,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145212926","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jose G Franco, Paula T Trzepacz, María M Villa, Marcela Alviz, Maria C González, María Botero, María V Ocampo, Juan D Velásquez-Tirado
{"title":"Relationship Between Minor Developmental Physical Anomalies and Delirium Among Geriatric Inpatients.","authors":"Jose G Franco, Paula T Trzepacz, María M Villa, Marcela Alviz, Maria C González, María Botero, María V Ocampo, Juan D Velásquez-Tirado","doi":"10.1176/appi.neuropsych.20240210","DOIUrl":"https://doi.org/10.1176/appi.neuropsych.20240210","url":null,"abstract":"<p><strong>Objective: </strong>The authors aimed to evaluate the relationships of minor physical anomalies (MPAs) of the head and limb with delirium among geriatric inpatients, in order to determine the potential of MPAs as markers of delirium's underlying neuropathogenesis.</p><p><strong>Methods: </strong>In total, 311 consecutively admitted general medical inpatients without dementia, ages ≥60 years, were assessed with the Delirium Rating Scale-Revised-98, Delirium Frontal Index (DFI), and Waldrop Developmental Anomalies Tool instruments. Multivariate logistic regression and point-biserial correlations were used to analyze the relationships between delirium and MPAs.</p><p><strong>Results: </strong>Overall, 275 (88%) study participants were in the nondelirium group, and 36 (12%) were in the delirium group. Small head circumference was the most common MPA (22%), followed by curved fifth digit (7%). These two MPAs were significantly more frequent in the group with delirium (OR=2.31 and OR=5.25, respectively), as was presence of at least one MPA (OR=2.55). Multivariate models that controlled for age and medical burden revealed even stronger relationships between MPAs and delirium (head MPA, OR=2.62; hand MPA, OR=7.23; and any MPA, OR=3.38). MPA and DFI score were significantly correlated with delirium severity but not with each other. Small head circumference and curved fifth digit rarely co-occurred (8%) in the delirium group and had different patterns of correlation with delirium characteristics.</p><p><strong>Conclusions: </strong>The association of limb and head MPAs with delirium suggests that early developmental aberrations can affect neurological structures related to consciousness that reduce the threshold for delirium during inpatient hospitalization in later life. Specific neurological pathways need further delineation, although frontal regions were not implicated.</p>","PeriodicalId":16559,"journal":{"name":"Journal of Neuropsychiatry and Clinical Neurosciences","volume":" ","pages":"appineuropsych20240210"},"PeriodicalIF":2.9,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145212904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The Frith Prescribing Guidelines for People With Intellectual Disability, 4th Edition.","authors":"Jay A Salpekar","doi":"10.1176/appi.neuropsych.20250064","DOIUrl":"https://doi.org/10.1176/appi.neuropsych.20250064","url":null,"abstract":"","PeriodicalId":16559,"journal":{"name":"Journal of Neuropsychiatry and Clinical Neurosciences","volume":" ","pages":"appineuropsych20250064"},"PeriodicalIF":2.9,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145212892","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Erica Cotton, Kristen Mordecai, Laura McWhirter, Veronica Cabreira, Ryan Van Patten, Noah Silverberg, Aaron Kaat, W Curt LaFrance
{"title":"<i>Taking Control of Your Functional Cognitive Symptoms: Workbook</i>-A Novel Intervention.","authors":"Erica Cotton, Kristen Mordecai, Laura McWhirter, Veronica Cabreira, Ryan Van Patten, Noah Silverberg, Aaron Kaat, W Curt LaFrance","doi":"10.1176/appi.neuropsych.20240231","DOIUrl":"https://doi.org/10.1176/appi.neuropsych.20240231","url":null,"abstract":"<p><strong>Objective: </strong>Functional cognitive disorder (FCD) is a subtype of functional neurological disorder (FND). FCD may include various cognitive symptoms, precipitants, and comorbid conditions (such as other FNDs, concussion, fatigue, or fibromyalgia). However, no widely available behavioral health interventions exist for FCD. The authors developed a therapist-guided and patient-led treatment for veterans and civilians with FCD.</p><p><strong>Methods: </strong>A well-known evidence-based treatment for functional seizures (an FCD-adjacent condition often with cognitive symptoms) was adapted to fit hypothesized mechanisms of FCD. The process used a health research format following the guidance for reporting intervention development studies. Key processes included determining the broad intervention framework, obtaining detailed FCD-specific content based on expert consensus, collecting evidence, developing theory, conducting target population-centered approaches, considering specialty subgroups, and gathering feedback from veteran and civilian stakeholders.</p><p><strong>Results: </strong>The authors created a comprehensive 14-chapter manualized therapist-guided neurobehavioral therapy protocol for FCD symptoms independent of etiology, the <i>Taking Control of Your Functional Cognitive Symptoms: Workbook.</i> Initial feasibility, tolerability, and utility were assessed with two target-population stakeholders with FCD (one civilian patient and one veteran patient), with both reporting a Patient Global Impression of Change scale rating of 1 (indicating that their condition had very much improved).</p><p><strong>Conclusions: </strong>This promising new multimodality behavioral health intervention can be considered to be in stage 1 (i.e., intervention generation, refinement, modification, adaptation, and pilot testing). Further pilot testing is being conducted and will need to be followed by traditional efficacy testing (in stage 2).</p>","PeriodicalId":16559,"journal":{"name":"Journal of Neuropsychiatry and Clinical Neurosciences","volume":" ","pages":"appineuropsych20240231"},"PeriodicalIF":2.9,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145212969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Boadie W Dunlop, Jungho Cha, Helen S Mayberg, Ki Sueng Choi, W Edward Craighead, Siamak MahmoudianDehkordi, Sudeepa Bhattacharyya, A John Rush, Rima Kaddurah-Daouk
{"title":"Bile Acids and Functional Connectivity of Executive Control and Default Mode Networks in Patients With Major Depression.","authors":"Boadie W Dunlop, Jungho Cha, Helen S Mayberg, Ki Sueng Choi, W Edward Craighead, Siamak MahmoudianDehkordi, Sudeepa Bhattacharyya, A John Rush, Rima Kaddurah-Daouk","doi":"10.1176/appi.neuropsych.20240222","DOIUrl":"10.1176/appi.neuropsych.20240222","url":null,"abstract":"<p><strong>Objective: </strong>Bile acids may contribute to pathophysiological markers of neuropsychiatric disorders, including disruptions of the executive control network (ECN) and the default mode network (DMN). Cognitive dysfunction is common in major depressive disorder; the authors examined whether bile acids affect these networks among patients with depression.</p><p><strong>Methods: </strong>Resting-state functional MRI scans and blood levels of four bile acids from 74 treatment-naïve adults with major depressive disorder were analyzed. Dorsolateral prefrontal cortex (DLPFC) seeds were used to examine connectivity of the ECN, and posterior cingulate cortex (PCC) seeds were used to examine DMN connectivity. Using a whole-brain analysis, the authors examined correlations between the functional connectivity of these seeds and serum levels of chenodeoxycholic acid (CDCA) and its bacterially derived secondary bile acid, lithocholic acid (LCA).</p><p><strong>Results: </strong>CDCA levels were strongly and inversely correlated with connectivity among DLPFC regions of the ECN (R<sup>2</sup>=0.400, p<0.001). CDCA levels were also strongly and inversely correlated with connectivity of the DLPFC and left inferior temporal cortex of the ECN (R<sup>2</sup>=0.268, p<0.001). The LCA-to-CDCA ratio was strongly and positively correlated with connectivity of the DLPFC with two ECN components: the bilateral inferior temporal cortex and the left superior and inferior parietal lobules (all R<sup>2</sup>>0.250, p<0.001). For the DMN, the LCA-to-CDCA ratio was strongly and inversely correlated with connectivity of the PCC with multiple bilateral insula regions (all R<sup>2</sup>>0.250, p<0.001).</p><p><strong>Conclusions: </strong>The relationship between LCA and CDCA levels and functional connectivity of the ECN and DMN suggests that major depressive disorder shares pathophysiological processes with other neuropsychiatric disorders.</p>","PeriodicalId":16559,"journal":{"name":"Journal of Neuropsychiatry and Clinical Neurosciences","volume":" ","pages":"appineuropsych20240222"},"PeriodicalIF":2.9,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145086372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Influence of Preexisting Psychotic and Bipolar Disorders on the Outcomes of Acutely Hospitalized Patients With COVID-19.","authors":"Mojtaba Sharafkhah, Nozhan Alimi, Zeinab Haghighi Fini, Roohollah Saranjam, Ali Massoudifar","doi":"10.1176/appi.neuropsych.20240033","DOIUrl":"https://doi.org/10.1176/appi.neuropsych.20240033","url":null,"abstract":"<p><strong>Objective: </strong>COVID-19 outcomes are often worse among patients with preexisting conditions. The authors assessed the impact of preexisting psychotic and bipolar disorders (PsBPs) on COVID-19 outcomes.</p><p><strong>Methods: </strong>A retrospective cohort study was conducted with COVID-19 patients admitted to three medical centers between April 20, 2020, and October 20, 2023. Patients were grouped into individuals with PsBPs (i.e., schizophrenia, other psychotic disorders, and bipolar disorders) and those with no psychiatric disorders (NPDs), defined as individuals without preexisting conditions such as nonpsychotic depression or anxiety. Data on demographic characteristics, clinical features, and COVID-19 severity were collected. The primary outcome was COVID-19 in-hospital mortality rate, and the secondary outcome was the association of PsBPs with COVID-19 severity.</p><p><strong>Results: </strong>Among 7,370 hospitalized COVID-19 patients (43.7% female; mean age=42.7 years), 12.2% had a PsBP. Patients with PsBPs had higher intensive care unit (ICU) admission rates (44.5% vs. 21.8%, p=0.003) and mortality rates (39.2% vs. 23.8%, p=0.045). Time intervals to ICU admission (7.3 vs. 8.2 days, p=0.001) and in-hospital death (8.0 vs. 12.2 days, p=0.001) were significantly shorter in the PsBP group, compared with the NPD group.</p><p><strong>Conclusions: </strong>COVID-19 patients with PsBPs had worse outcomes, including higher ICU admission and mortality rates, and greater disease severity. These findings highlight the importance of early detection and tailored interventions for this vulnerable population.</p>","PeriodicalId":16559,"journal":{"name":"Journal of Neuropsychiatry and Clinical Neurosciences","volume":" ","pages":"appineuropsych20240033"},"PeriodicalIF":2.9,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145086340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sofia Cuoco, Veronica Nisticò, Rossella Bisogno, Roberta Tedesco, Marco Aiello, Cristina Civilotti, Paolo Barone, Benedetta Demartini, Roberto Erro
{"title":"Personality Profiles Among People With Functional Motor Disorders.","authors":"Sofia Cuoco, Veronica Nisticò, Rossella Bisogno, Roberta Tedesco, Marco Aiello, Cristina Civilotti, Paolo Barone, Benedetta Demartini, Roberto Erro","doi":"10.1176/appi.neuropsych.20250021","DOIUrl":"https://doi.org/10.1176/appi.neuropsych.20250021","url":null,"abstract":"<p><strong>Objective: </strong>Although psychological issues are not diagnostic criteria for functional neurological disorder (FND), they often occur among individuals with FND, especially among those with functional seizures. However, corresponding findings for individuals with functional motor disorder (FMD) are inconclusive.</p><p><strong>Methods: </strong>Thirty individuals with FMD and 30 age-, education-, and sex-matched healthy control (HC) individuals completed the Minnesota Multiphasic Personality Inventory-2. The authors used the test's 10 basic clinical scales and its 15 content scales along with their subscales to explore the participants' personality profiles. After logarithmic data transformation, parametric tests were performed to compare the two groups.</p><p><strong>Results: </strong>Individuals with FMD had significantly higher scores than those in the HC group on the following basic clinical scales: hypochondriasis, depression, hysteria, psychopathic deviance, paranoia, psychasthenia, and schizophrenia (p<0.005). Compared with participants in the HC group, a higher proportion of those with FMD surpassed the cutoff score for the hypochondriasis, depression, hysteria, paranoia, and schizophrenia scales. Individuals with FMD showed a specific personality pattern, the \"passive-aggressive valley,\" characterized by high scores on the psychopathic deviance and paranoia scales and low scores on the masculinity-femininity scale. Individuals with FMD had higher scores than those in the HC group on anxiety, obsessiveness, depression, health concerns, low self-esteem, and work interference scales (p<0.003).</p><p><strong>Conclusions: </strong>Individuals with FMD had significantly higher impairments in emotional-cognitive functioning compared with HC individuals, characterized by excessive attention to somatic sensations, poor emotional insight, and cognitive inflexibility, associated with personality features of susceptibility, misperception of threats, unexpressed anger, and behaviors indicating unmet emotional needs.</p>","PeriodicalId":16559,"journal":{"name":"Journal of Neuropsychiatry and Clinical Neurosciences","volume":" ","pages":"appineuropsych20250021"},"PeriodicalIF":2.9,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145086370","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Samantha Weber, Lucía Trinidad Rey Álvarez, Natascha Stoffel, Juan Ansede-Bermejo, Raquel Cruz, Álvaro Del Real Bolt, Janine Bühler, Ángel Carracedo, Selma Aybek
{"title":"Increased Prevalence of an Oxytocin Receptor Gene Variant in Functional Neurological Disorder: A Case-Control Study.","authors":"Samantha Weber, Lucía Trinidad Rey Álvarez, Natascha Stoffel, Juan Ansede-Bermejo, Raquel Cruz, Álvaro Del Real Bolt, Janine Bühler, Ángel Carracedo, Selma Aybek","doi":"10.1176/appi.neuropsych.20250031","DOIUrl":"https://doi.org/10.1176/appi.neuropsych.20250031","url":null,"abstract":"<p><strong>Objective: </strong>Current models of functional neurological disorder (FND) suggest a multifactorial origin of the disorder. Recent studies have identified biological vulnerability factors for FND, such as reduced amygdalar and hippocampal volumes or altered stress responses, highlighting the need to investigate the potential roles of genetic factors in this disorder.</p><p><strong>Methods: </strong>Eighty-five patients with mixed FND symptoms and 76 healthy control (HC) individuals were genotyped for 10 single-nucleotide polymorphisms (SNPs) in seven genes associated with the brain's stress response system. For genetic variants that were found to be linked to FND, associations with structural brain alterations were investigated by using a region-of-interest approach in a subset of FND patients with complete genotyping and neuroimaging data (N=82). Regions had been previously selected on the basis of their biological involvement and being a factor in vulnerability to FND.</p><p><strong>Results: </strong>A significant association between FND and a SNP, rs53576, in the oxytocin receptor (<i>OXTR</i>) gene was observed, and a significant association between decreased right insular volumes and rs53576 was also identified. Among female FND patients (N=60), the rs53576 SNP in <i>OXTR</i> was associated with significantly reduced bilateral amygdalar volume.</p><p><strong>Conclusions: </strong>These preliminary results suggest that genetic factors in the oxytocinergic system and sex-specific structural changes in the insula and amygdala contribute to vulnerability to FND. Because oxytocin is a regulatory factor in stress responses, decreased activity of some FND-associated <i>OXTR</i> gene variants might affect stress responses and regulation in FND in a sex-dependent manner.</p>","PeriodicalId":16559,"journal":{"name":"Journal of Neuropsychiatry and Clinical Neurosciences","volume":" ","pages":"appineuropsych20250031"},"PeriodicalIF":2.9,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145086324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}