BMC Psychiatry最新文献

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Lower serum annexin A1 and neurogranin levels in chronic schizophrenia: a case-control study. 慢性精神分裂症患者血清膜联蛋白A1和神经颗粒蛋白水平降低:一项病例对照研究。
IF 4.6 2区 医学
BMC Psychiatry Pub Date : 2026-10-27 DOI: 10.1186/s12888-026-08822-3
Muhammet Sancaktar, Bahadır Demir, Ekin Nur Yağdıran, Gülçin Elboğa, Feridun Bülbül, Kenan Ercan, Seyithan Taysı, Abdurrahman Altındağ
{"title":"Lower serum annexin A1 and neurogranin levels in chronic schizophrenia: a case-control study.","authors":"Muhammet Sancaktar, Bahadır Demir, Ekin Nur Yağdıran, Gülçin Elboğa, Feridun Bülbül, Kenan Ercan, Seyithan Taysı, Abdurrahman Altındağ","doi":"10.1186/s12888-026-08822-3","DOIUrl":"https://doi.org/10.1186/s12888-026-08822-3","url":null,"abstract":"<p><strong>Background: </strong>Synaptic dysfunction and immune mechanisms are both implicated in schizophrenia. Annexin A1 (ANXA1) is a glucocorticoid-induced pro-resolving protein and neurogranin (Ng) is a post-synaptic, calmodulin-binding protein studied as a peripheral correlate of synaptic biology. Circulating ANXA1 has not previously been measured in schizophrenia, and serum Ng is sparsely characterised, so no directional hypothesis was pre-specified.</p><p><strong>Methods: </strong>In a single-centre case-control study, 35 patients meeting DSM-5 criteria for schizophrenia (diagnosed with the SCID-5) and 35 sex-comparable healthy controls were enrolled. Fasting serum ANXA1 and Ng were measured in duplicate by sandwich enzyme-linked immunosorbent assay. Symptom severity was rated with the PANSS and CGI-S, and antipsychotic treatment was documented including chlorpromazine equivalents. The pre-specified primary analysis was the Mann-Whitney U test for each biomarker, with Bonferroni and false-discovery-rate correction; group differences were then adjusted for age, sex and body-mass index by analysis of covariance. All other analyses were exploratory.</p><p><strong>Results: </strong>Both biomarkers were lower in patients: ANXA1 median 6.21 (IQR 5.12-8.34) vs. 13.06 (8.82-23.66) ng/mL (U = 309, p = 3.6 × 10⁻⁴; rank-biserial r = - 0.50) and Ng 174.2 (149.1-281.0) vs. 380.0 (237.1-547.1) pg/mL (U = 302, p = 2.7 × 10⁻⁴; r = - 0.51). Both remained significant after correction for multiple testing and in ANCOVA adjusted for age, sex and body-mass index (adjusted difference - 6.71 ng/mL, p = 0.011; -182.3 pg/mL, p = 0.0008). Neither biomarker was associated with chlorpromazine-equivalent dose, clozapine use, antipsychotic polypharmacy, long-acting injectable use or lifetime electroconvulsive therapy. The two proteins correlated strongly in patients (r = 0.900) and controls (r = 0.844), with no significant between-group difference in the correlation (Fisher r-to-z, p = 0.339), and neither tracked PANSS or CGI-S. Sex-stratified differences reached significance in women only, but the group × sex interaction was not significant.</p><p><strong>Conclusions: </strong>Serum ANXA1 and neurogranin were lower in chronic schizophrenia and showed no statistically significant association with the treatment variables measured, although medication effects cannot be excluded in a uniformly medicated sample. Because no inflammatory, central or longitudinal measures were obtained, these exploratory findings cannot demonstrate impaired resolution of inflammation, altered central synaptic integrity, or trait status; they identify two candidate peripheral markers that require replication.</p>","PeriodicalId":9029,"journal":{"name":"BMC Psychiatry","volume":"26 1","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13711958/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149285088","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association between stressful life events and psychoactive substance use in adolescents and young adults from Argentina, Colombia and Peru. 来自阿根廷、哥伦比亚和秘鲁的青少年和年轻人压力生活事件与精神活性物质使用之间的关系。
IF 4.6 2区 医学
BMC Psychiatry Pub Date : 2026-10-26 DOI: 10.1186/s12888-026-08357-7
Rubí Paredes-Angeles, Maria Lazo-Porras, Adriana Carbonel, Carlos Gómez-Restrepo, Luis Ignacio Brusco, Diliniya Stanislaus Sureshkumar, José Miguel Uribe-Restrepo, Natividad Olivar, Catherine Fung, Fernando Esnal, Natalia Godoy-Casasbuenas, Stefan Priebe, Francisco Diez-Canseco
{"title":"Association between stressful life events and psychoactive substance use in adolescents and young adults from Argentina, Colombia and Peru.","authors":"Rubí Paredes-Angeles, Maria Lazo-Porras, Adriana Carbonel, Carlos Gómez-Restrepo, Luis Ignacio Brusco, Diliniya Stanislaus Sureshkumar, José Miguel Uribe-Restrepo, Natividad Olivar, Catherine Fung, Fernando Esnal, Natalia Godoy-Casasbuenas, Stefan Priebe, Francisco Diez-Canseco","doi":"10.1186/s12888-026-08357-7","DOIUrl":"10.1186/s12888-026-08357-7","url":null,"abstract":"<p><strong>Background: </strong>Substance use is a common problem among young people in Latin America and has significant consequences for their mental health. One of the variables associated with the use of psychoactive substances is stressful life events (SLEs). SLEs can include traumatic experiences, significant losses, interpersonal conflicts, financial difficulties, among others.</p><p><strong>Objective: </strong>To explore the association between the number of SLEs and psychoactive substance use in adolescents and young adults from deprived urban settings.</p><p><strong>Methods: </strong>In this cross-sectional study, adolescents and young adults were recruited from disadvantaged urban environments in Buenos Aires, Bogota and Lima. Data were collected between April 2021 and November 2022. The number of SLEs experienced in lifetime until a year ago was assessed using an adaptation of the Adolescent Appropriate Life Events Scale, which asks about 30 SLEs. Psychoactive substance use in the last three months was self-rated and six outcomes were analyzed: alcohol, tobacco, marijuana, tranquilizers, other drugs, and use of three or more substances. Crude and adjusted prevalence ratios (PRs) were estimated using generalized linear models of the Poisson family with log link and robust variances for each outcome.</p><p><strong>Results: </strong>2378 participants' data were analyzed. Participants experiencing between 10 and 22 SLEs more than a year ago had higher prevalence rates of psychoactive substance use than participants between 0 and 5 SLEs in four of six outcomes: tobacco (PR: 1.69, 95% CI 1.37-2.08), alcohol (PR: 1.23, 95% CI 1.13-1.35), marijuana (PR: 1.75, 95% CI 1.35-2.26), and three or more psychoactive substances (PR: 1.85, 95% CI 1.35-2.53) in the last three months.</p><p><strong>Conclusion: </strong>Experiencing a higher number of SLEs was associated with the use of tobacco, alcohol, marijuana, and three or more psychoactive substances in adolescents and young adults from disadvantaged urban areas of Bogota, Buenos Aires, and Lima. Recognizing young people who have gone through multiple stressful life events at an early stage is essential, so that interventions can be implemented to prevent them from turning to psychoactive substances.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":9029,"journal":{"name":"BMC Psychiatry","volume":"26 1","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13700170/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149262275","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Perceived satisfaction with care, service atmosphere and mood fluctuations among patients with schizophrenia spectrum disorder in Italian mental health supported accommodations: a multicenter study. 意大利精神卫生支持住宿中精神分裂症谱系障碍患者对护理、服务氛围和情绪波动的感知满意度:一项多中心研究
IF 4.6 2区 医学
BMC Psychiatry Pub Date : 2026-10-21 DOI: 10.1186/s12888-026-08365-7
Alessandra Martinelli, Elena Toffol, Donato Martella, Martina Carnevale, Stefano Calza, Giovanni de Girolamo
{"title":"Perceived satisfaction with care, service atmosphere and mood fluctuations among patients with schizophrenia spectrum disorder in Italian mental health supported accommodations: a multicenter study.","authors":"Alessandra Martinelli, Elena Toffol, Donato Martella, Martina Carnevale, Stefano Calza, Giovanni de Girolamo","doi":"10.1186/s12888-026-08365-7","DOIUrl":"10.1186/s12888-026-08365-7","url":null,"abstract":"<p><strong>Background: </strong>Supported Accommodations (SA) are central to Italy's community-based mental health care for individuals with schizophrenia spectrum disorders (SSD), offering structured, recovery-oriented environments. While symptom severity remains important, care environment and satisfaction strongly influence well-being. Mood fluctuations, a key aspect of daily functioning, have been underexplored in SA. Using the Experience Sampling Method (ESM), this study aims to examine the associations between perceived ward atmosphere, care satisfaction, and momentary mood in SA residents with SSD.</p><p><strong>Methods: </strong>As part of the DiAPAson project, 68 residents with SSD were assessed also using ESM. Additional measures included psychopathology (BPRS, BNSS), functioning (SLOF, WHODAS 2.0), perceived ward atmosphere (WAS-P) and service satisfaction (VSSS-32). Descriptive analyses were conducted, and a structural equation model examined mood in relation to clinical, demographic, and environmental factors.</p><p><strong>Results: </strong>Residents with SSD (29.4% female; mean age = 42.8 years) were mostly single (80.9%) and unemployed (79.4%), with a mean disorder duration of 19.2 years. Clinical assessments indicated moderate symptom severity and functioning. Structural equation modelling showed excellent fit (CFI = 1.000; RMSEA = 0.000; SRMR = 0.060). The latent variable Env-Perc, combining service satisfaction (VSSS-32) and perceived ward atmosphere (WAS-P), was the only significant predictor of momentary mood (β = 0.344, 95%CI: [0.084;0954], p = 0.033).</p><p><strong>Conclusions: </strong>Perceived satisfaction with care and service atmosphere in SA contribute to promoting positive mood among individuals with SSD.</p><p><strong>Trial registration: </strong>ISRCTN registry ID ISRCTN21141466, registration date 17 February 2020.</p>","PeriodicalId":9029,"journal":{"name":"BMC Psychiatry","volume":"26 1","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13689020/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149236882","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Amygdala neurofeedback as an adjunct to residential dialectical behavior therapy for borderline personality disorder: a pilot randomized controlled trial. 杏仁核神经反馈作为边缘型人格障碍住院辩证行为治疗的辅助:一项随机对照试验。
IF 4.6 2区 医学
BMC Psychiatry Pub Date : 2026-10-16 DOI: 10.1186/s12888-026-08767-7
Miroslava Hofmanová, Philip S Santangelo, Nikolaus Kleindienst, Christian Schmahl, Christian Paret
{"title":"Amygdala neurofeedback as an adjunct to residential dialectical behavior therapy for borderline personality disorder: a pilot randomized controlled trial.","authors":"Miroslava Hofmanová, Philip S Santangelo, Nikolaus Kleindienst, Christian Schmahl, Christian Paret","doi":"10.1186/s12888-026-08767-7","DOIUrl":"10.1186/s12888-026-08767-7","url":null,"abstract":"<p><strong>Background: </strong>Borderline personality disorder (BPD) is characterized by affective instability and amygdala hyperreactivity. Although dialectical behavior therapy (DBT) reduces symptoms and amygdala-related abnormalities, many patients show only partial remission. Real-time functional magnetic resonance imaging (fMRI) amygdala neurofeedback (amy-NF) directly targets hyperactive limbic responses and has shown promise in uncontrolled trials. We examined whether amy-NF adds benefit to inpatient DBT.</p><p><strong>Methods: </strong>Thirty-six mid-therapy people with BPD and clinically significant residual symptoms (BSL-23 > 1.5) were randomized to DBT plus amy-NF (n = 23) or DBT alone, termed treatment as usual (TAU = 13). Post-treatment assessments were completed by 15/9 (amy-NF/TAU), with 15/8 and 12/7 completing the 3- and 6-month follow-ups. Ecological momentary assessment (EMA) of daily-life affective instability served as the primary outcome. Secondary outcomes included self-reports, amygdala responses during two fMRI tasks, and resting-state fMRI. Assessments occurred at pre-, post-, 3-, and 6-month follow-up.</p><p><strong>Results: </strong>Participants successfully downregulated amygdala activity during neurofeedback. EMA showed improvements in negative affect, inner tension, and affective instability over time, without consistent superiority of amy-NF. Self-reports likewise showed no additional benefit of amy-NF, and BSL-23 scores increased after discharge in both groups. Amy-NF was associated with transient pre-post reductions in amygdala activity during both viewing and regulation in the emotion regulation task, and with more stable amygdala reactivity over time than TAU in the faces task. Resting-state analyses showed transient pre-post increases in amygdala connectivity with precuneus and dorsomedial frontal regions in amy-NF.</p><p><strong>Conclusions: </strong>Amygdala neurofeedback is feasible and reduced amygdala activity in BPD, but did not yield additional clinical benefit when delivered alongside intensive residential DBT, although the small sample may have limited power to detect such effects.</p><p><strong>Trial registration: </strong>The study protocol was preregistered 2020/03/26 on ClinicalTrials.gov and received the ID NCT04333888.</p>","PeriodicalId":9029,"journal":{"name":"BMC Psychiatry","volume":"26 1","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13675997/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149206602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The active self in autism: multisensory and sensorimotor foundations of bodily self-representation. 自闭症的主动自我:身体自我表征的多感觉和感觉运动基础。
IF 4.6 2区 医学
BMC Psychiatry Pub Date : 2026-10-15 DOI: 10.1186/s12888-026-08756-w
Amir Jahanian Najafabadi, Alireza Rastegari
{"title":"The active self in autism: multisensory and sensorimotor foundations of bodily self-representation.","authors":"Amir Jahanian Najafabadi, Alireza Rastegari","doi":"10.1186/s12888-026-08756-w","DOIUrl":"10.1186/s12888-026-08756-w","url":null,"abstract":"<p><p>The active self, understood as the embodied sense of self arising from goal-directed action and interaction with the environment, is supported by sensorimotor processes including multisensory integration and proprioception. Atypical self-representation in autism spectrum disorder (ASD) has been proposed to relate to differences in these processes. To clarify this relationship, we conducted a systematic conceptual review of 37 empirical studies published between 2010 and August 2025 examining multisensory and bodily components of the active self in ASD. The literature was synthesized across three themes: (1) multisensory integration, (2) self-bias and self-other differentiation, and (3) motor underpinnings of bodily awareness. Across studies, autistic participants frequently showed differences in multisensory timing and weighting, including reduced or delayed susceptibility to some bodily ownership illusions and greater reliance on proprioceptive or immediate sensory information. Evidence also indicated differences in the flexibility of peri- and interpersonal space, self-other differentiation, agency-related processing, and motor planning and execution. However, findings were not uniform across paradigms, developmental stages, or participant groups, with relatively preserved performance reported under some unimodal or low-noise conditions. Together, these findings support an association between multisensory and sensorimotor processing and several components of bodily self-representation in autism, while substantial methodological and sample heterogeneity limits strong causal or clinical conclusions. Future research should prioritize larger and more representative samples, longitudinal and multimethod designs, standardized experimental paradigms, and objective measures of embodiment to determine whether these mechanisms can ultimately inform individualized assessment and intervention.Clinical trial number Not applicable.</p>","PeriodicalId":9029,"journal":{"name":"BMC Psychiatry","volume":"26 1","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13673594/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149206592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Epigenetics of generalized internet use disorder including data on overuse of social media: a closer look at the SLC6A4, NR3C1 and OXT genes. 广泛性网络使用障碍的表观遗传学,包括过度使用社交媒体的数据:对SLC6A4、NR3C1和OXT基因的进一步研究。
IF 4.6 2区 医学
BMC Psychiatry Pub Date : 2026-10-14 DOI: 10.1186/s12888-026-08743-1
Christian Montag, Markus Kiefer, Bernhard J Connemann, Thomas Kammer, Simon Sanwald
{"title":"Epigenetics of generalized internet use disorder including data on overuse of social media: a closer look at the SLC6A4, NR3C1 and OXT genes.","authors":"Christian Montag, Markus Kiefer, Bernhard J Connemann, Thomas Kammer, Simon Sanwald","doi":"10.1186/s12888-026-08743-1","DOIUrl":"10.1186/s12888-026-08743-1","url":null,"abstract":"<p><strong>Background: </strong>Only few studies so far have investigated the molecular underpinnings of Internet Use Disorders (IUD), which can shed light on the neurochemical basis of excessive online behaviors. There are even less epigenetic studies in this research field, and longitudinal evidence is even more scarce.</p><p><strong>Methods: </strong>The present study investigated in n = 83 depressed patients and n = 83 healthy controls potential links between DNA-methylation of three candidate genes (serotonin transporter gene SLC6A4, glucocorticoid receptor gene NR3C1 and gene coding for oxytocin OXT) known to play a role in affective disorders and self-reported excessive Internet and problematic social media use over a two-week period.</p><p><strong>Results: </strong>In depressed patients, we found a significant positive association between problematic social media use, IUD tendencies in general, craving and methylation of a CpG site in NR3C1. In healthy controls, we found a significant positive association between social support and methylation of a CpG site in OXT. Further we found that higher social media addiction tendencies were associated with decreasing differences in methylation of OXT over a two-week period in both the group of depressed patients and healthy controls. However, this effect was small and the confidence interval contained zero.</p><p><strong>Conclusions: </strong>Our findings might provide first preliminary indications that NR3C1 and OXT might be involved in overuse of social media. However, small effect sizes and complex interaction effects require replication in larger samples with longitudinal measurements over a longer time period.</p>","PeriodicalId":9029,"journal":{"name":"BMC Psychiatry","volume":"26 1","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13670694/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149179317","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Living with and caring for somatic symptom disorders: a qualitative interview-study with patients and GPs using a deductive-inductive content analytic approach. 与躯体症状障碍一起生活和护理:使用演绎-归纳内容分析方法对患者和全科医生进行定性访谈研究。
IF 4.6 2区 医学
BMC Psychiatry Pub Date : 2026-10-13 DOI: 10.1186/s12888-026-08750-2
N J Pohontsch, M Lehmann, T Zimmermann, B Löwe, M Scherer
{"title":"Living with and caring for somatic symptom disorders: a qualitative interview-study with patients and GPs using a deductive-inductive content analytic approach.","authors":"N J Pohontsch, M Lehmann, T Zimmermann, B Löwe, M Scherer","doi":"10.1186/s12888-026-08750-2","DOIUrl":"https://doi.org/10.1186/s12888-026-08750-2","url":null,"abstract":"<p><strong>Background: </strong>Persistent physical symptoms are common in general practice and often occur as part of a somatic symptom disorder. Patients suffering from somatic symptom disorders and their general practitioners (GPs) often experience barriers to mutual trust and effective care. Frequently, studies using a one-sided perspective bear mutual accusation about shortcomings of the respective other side. This study examines corresponding perspectives of patients with somatic symptom disorders and their treating GPs to capture their views on individual patient histories and thereby identify barriers to and potentially helpful aspects of communication, detection, care for and live with somatic symptom disorders.</p><p><strong>Methods: </strong>Qualitative face-to-face interviews were conducted with dyads of patients with somatic symptom disorders and their treating GPs. The interviews focused on the patients' medical history as well as barriers and facilitators of management and care in general practice. Patients and their respective GPs were interviewed separately using a semi-structured interview guide. Interviews were digitally recorded and transcribed verbatim. Transcripts were analyzed using the qualitative content analysis approach described by Mayring.</p><p><strong>Results: </strong>We interviewed 15 patient-GP dyads (i.e., 30 interviews). The interviews yielded three general aspects of living with and caring for somatic symptom disorders from the complementing perspectives of patients and their treating GPs: (1) The (undisclosed) patient side (partly invisible to the GP), (2) the shared part of the consultation in general practice, and (3) GPs' management and care. Patients and GPs alike talked about consultations focusing mainly on communicational and relational aspects. Patients painted a picture of living with somatic symptom disorders, giving details about the relevance of personal situation, relationships, and their work situation for their symptoms and illness management. GPs' focus lay on coordinating functions, and treatment and management strategies for patients with somatic symptom disorders.</p><p><strong>Conclusion: </strong>To establish a trusting relationship between patient and general practitioner, removal of time constraints for consultations and preoccupations for symptom management should allow for better insights of the general practitioners in patients' lives. If we allow for time to let the patient-doctor relationship grow, mutual trust may ensue.</p><p><strong>German clinical trial register: </strong>ID: DRKS00011380, registration date: 1st December 2016.</p>","PeriodicalId":9029,"journal":{"name":"BMC Psychiatry","volume":"26 1","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13660235/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149179315","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Whole-exome sequencing in a Turkish autism spectrum disorder cohort: a retrospective study of molecular diagnostic yield in isolated and complex presentations. 土耳其自闭症谱系障碍队列的全外显子组测序:孤立和复杂表现的分子诊断产率的回顾性研究。
IF 4.6 2区 医学
BMC Psychiatry Pub Date : 2026-10-13 DOI: 10.1186/s12888-026-08739-x
Mehmet Burak Mutlu, Aslıhan Sanrı, Oğuzhan Yaralı, Özlem Sezer, Fethiye Kılıçaslan, Hakan Gümüş, Sefer Kumandaş, Özlem Öz
{"title":"Whole-exome sequencing in a Turkish autism spectrum disorder cohort: a retrospective study of molecular diagnostic yield in isolated and complex presentations.","authors":"Mehmet Burak Mutlu, Aslıhan Sanrı, Oğuzhan Yaralı, Özlem Sezer, Fethiye Kılıçaslan, Hakan Gümüş, Sefer Kumandaş, Özlem Öz","doi":"10.1186/s12888-026-08739-x","DOIUrl":"10.1186/s12888-026-08739-x","url":null,"abstract":"<p><strong>Background: </strong>Whole-exome sequencing (WES) can identify molecular etiologies in autism spectrum disorder (ASD), particularly when ASD occurs with developmental delay/intellectual disability (DD/ID), epilepsy, dysmorphism, congenital anomalies, or neuroimaging abnormalities. Data on WES yield and candidate-gene findings in Turkish ASD cohorts remain limited. We assessed molecular diagnostic yield and variant spectrum in a Turkish clinical ASD cohort, with comparison of isolated and complex ASD presentations.</p><p><strong>Methods: </strong>This retrospective cohort study included 320 individuals with ASD evaluated by WES between 2020 and 2025. Patients were classified as having isolated or complex ASD based on co-occurring neurodevelopmental, neurological, dysmorphic, congenital, or systemic findings. Variants were interpreted using ACMG/AMP criteria. Established molecular diagnoses required pathogenic or likely pathogenic (P/LP) variants associated with OMIM-defined disorders or occurring in genes with definitive, strong, or moderate ClinGen evidence for a neurodevelopmental disorder (NDD). Categorical comparisons used two-sided Fisher's exact test.</p><p><strong>Results: </strong>Established molecular diagnoses were identified in 104/320 patients (32.5%; 95% confidence interval [CI], 27.4-37.9%), including 2/22 patients with isolated ASD (9.1%; 95% CI, 1.1-29.2%) and 102/298 patients with complex ASD (34.2%; 95% CI, 28.9-39.9%; p = 0.017). An additional 12 patients had P/LP variants in candidate or emerging genes, resulting in an overall P/LP finding rate of 116/320 (36.3%; 95% CI, 31.0-41.8%). Variants of uncertain significance were identified in 147 patients, while no ASD/NDD-related variant was identified in 57 patients.</p><p><strong>Conclusions: </strong>WES supports etiological clarification in clinically complex ASD. Established molecular diagnoses were substantially more frequent in complex than isolated ASD. Candidate and emerging gene findings should be reported separately and interpreted as hypothesis-generating.</p>","PeriodicalId":9029,"journal":{"name":"BMC Psychiatry","volume":"26 1","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13711873/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149262372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Young adults with OCD and their experiences of the school-to-work or university transition: an explorative qualitative study. 患有强迫症的年轻人及其从学校到工作或大学过渡的经历:一项探索性质的研究。
IF 4.6 2区 医学
BMC Psychiatry Pub Date : 2026-10-13 DOI: 10.1186/s12888-026-08714-6
Åsa Andersén, Iman Alaie, Beatrice Carpentsier, Magnus Helgesson, Lisa Holmlund
{"title":"Young adults with OCD and their experiences of the school-to-work or university transition: an explorative qualitative study.","authors":"Åsa Andersén, Iman Alaie, Beatrice Carpentsier, Magnus Helgesson, Lisa Holmlund","doi":"10.1186/s12888-026-08714-6","DOIUrl":"10.1186/s12888-026-08714-6","url":null,"abstract":"<p><strong>Background: </strong>The school-to-work or school-to-university transition (STWT) can be a challenging process for young adults, especially for those suffering from mental disorders such as obsessive-compulsive disorder (OCD). While OCD is a relatively common disorder, little is known about how young adults with OCD experience the STWT process. A better understanding of the conditions influencing STWT may deepen knowledge relevant to the development and implementation of interventions aiming at promoting labour market inclusion for this population. This study aimed to explore how young adults aged 19-29 years living with OCD experience the STWT and which factors they perceive as challenging or supportive during this process.</p><p><strong>Materials and methods: </strong>The study employed an explorative qualitative design. Data were collected through semi-structured individual interviews with 21 participants (14 females and 7 males) diagnosed with OCD, with a mean age of 23.0 years at the time of the interviews. Data were analysed using reflexive thematic analysis.</p><p><strong>Findings: </strong>Two themes were generated: (1) Navigating pathways into the labour market through studies or work while managing health and (2) Navigating pathways into the labour market through societal support. The analysis illustrates how OCD symptoms, as well as organisational and societal conditions, could create challenges that affected and, in some cases, delayed the STWT process. Participants struggled to manage these challenges while also prioritising their health. Throughout this process, they developed their own strategies and used various forms of support.</p><p><strong>Conclusion: </strong>The findings suggest a potential interplay between OCD symptoms and engagement in education and employment during the STWT process. Increased OCD symptoms, worsening mental health, and unmet individual needs may contribute to delay or interrupt the transition. Individual coping strategies, pedagogical, workplace-related, social and societal support may help young adults overcome challenges while maintaining their mental health and well-being. The findings emphasise the need for flexible, individualised support and coordinated efforts among relevant stakeholders. Healthcare services may address both symptom management and the new contexts and challenges embedded in the transition. Increased awareness of OCD, together with sustainable and supportive study and work environments, is important for improving inclusion in working life among young adults with OCD.</p>","PeriodicalId":9029,"journal":{"name":"BMC Psychiatry","volume":"26 1","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13711837/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149262398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Interpretable machine learning for identifying mild cognitive impairment among Chinese patients with obstructive sleep apnea: a multicenter cross-sectional study. 可解释的机器学习识别中国阻塞性睡眠呼吸暂停患者轻度认知障碍:一项多中心横断面研究。
IF 4.6 2区 医学
BMC Psychiatry Pub Date : 2026-10-11 DOI: 10.1186/s12888-026-08712-8
Enguang Li, Fangzhu Ai, Peipei Cai, Kuo Wen, Botang Guo, Hongjuan Wen
{"title":"Interpretable machine learning for identifying mild cognitive impairment among Chinese patients with obstructive sleep apnea: a multicenter cross-sectional study.","authors":"Enguang Li, Fangzhu Ai, Peipei Cai, Kuo Wen, Botang Guo, Hongjuan Wen","doi":"10.1186/s12888-026-08712-8","DOIUrl":"https://doi.org/10.1186/s12888-026-08712-8","url":null,"abstract":"<p><strong>Background: </strong>Mild cognitive impairment (MCI) is clinically relevant in obstructive sleep apnea (OSA). We developed and externally validated an interpretable machine-learning model for concurrent clinically defined MCI to support prioritization for formal cognitive assessment rather than diagnosis.</p><p><strong>Methods: </strong>This multicenter cross-sectional diagnostic-prediction study included 400 eligible patients with OSA from Changchun, divided into a training set (n = 280) and an internal algorithm-selection hold-out (n = 120), plus an independent Shenzhen external-validation sample (n = 192). MCI classification integrated reported cognitive decline, objective cognitive evidence, largely preserved everyday independence, dementia exclusion, and assessment-team consensus with physician participation. Of 27 candidate predictors, redundancy review left 24 and LASSO-Boruta consensus retained nine. Feature selection was performed once on the full training set before repeated cross-validation and was not nested within resampling folds. Eight algorithms were tuned using repeated 10-fold cross-validation with training-fold-only SMOTE and PR-AUC as the primary metric. The RF threshold (0.3228) was derived from training out-of-fold probabilities and locked before validation.</p><p><strong>Results: </strong>MCI was classified in 93/280 (33.2%), 38/120 (31.7%), and 57/192 (29.7%) participants. The nine RF predictors were coffee consumption, physical activity, AHI, MSaO2, PHQ-9, GAD-7, ESS, CPSS-14, and PSQI total scores. In the internal hold-out used for algorithm selection, RF achieved ROC-AUC 0.953, PR-AUC 0.936, and Brier score 0.060; these selection-conditioned estimates are not unbiased generalization estimates. In independent external validation, ROC-AUC was 0.957, PR-AUC 0.809, and Brier score 0.051. Calibration intercept - 0.616 and slope 0.701 indicated systematic probability overestimation despite strong discrimination.</p><p><strong>Conclusions: </strong>The RF model discriminated strongly in Shenzhen, but external miscalibration and systematic probability overestimation mean that high AUC does not make raw probabilities transportable; local calibration assessment and, if needed, recalibration are required before clinical use. The MCI outcome cannot be reproduced from questionnaire/scale scores alone, and Supplementary Table S10 is a retrospective operational specification rather than the original CRF. Performance evidence comes almost entirely from male OSA patients; validity in women is unestablished, and the model should not be used for clinical assessment in females. It is a research screening-prioritization tool, not a diagnostic, causal, prognostic, or clinical-impact instrument.</p>","PeriodicalId":9029,"journal":{"name":"BMC Psychiatry","volume":"26 1","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13712065/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149285102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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