BMC Psychiatry最新文献

{"title":"Auxiliary identification of depression patients using interpretable machine learning models based on heart rate variability: a retrospective study.","authors":"Min Yang, Huiqin Zhang, Minglan Yu, Yunxuan Xu, Bo Xiang, Xiaopeng Yao","doi":"10.1186/s12888-024-06384-w","DOIUrl":"https://doi.org/10.1186/s12888-024-06384-w","url":null,"abstract":"<p><strong>Objective: </strong>Depression has emerged as a global public health concern with high incidence and disability rates, which are timely imperative to identify and intervene in clinical practice. The objective of this study was to explore the association between heart rate variability (HRV) and depression, with the aim of establishing and validating machine learning models for the auxiliary diagnosis of depression.</p><p><strong>Methods: </strong>The data of 465 outpatients from the Affiliated Hospital of Southwest Medical University were selected for the study. The study population was then randomly divided into training and test sets in a 7:3 ratio. Logistic regression (LR), support vector machine (SVM), random forest (RF) and eXtreme gradient boosting (XGBoost) algorithm models were used to construct risk prediction models in the training set, and the model performance was verified in the test set. The four models were evaluated by the area under the receiver operating characteristic curve (ROC), calibration curve and the decision curve analysis (DCA). Furthermore, we employed the SHapley Additive exPlanations (SHAP) method to illustrate the effects of the features attributed to the model.</p><p><strong>Results: </strong>There were 237 people in the depressed group and 228 in the non-depressed group. In the training set (n = 325) and test set (n = 140), the area under of the curve(AUC) values of the XGBoost model are 0.92 [95% confidence interval (CI) 0.888,0.95] and 0.82 (95% CI 0.754,0.892)] respectively, which are higher than the other three models. The XGBoost model has excellent predictive efficacy and clinical utility. The SHAP method was ranked according to the importance of the degree of influence on the model, with age, heart rate, Standard deviation of the NN intervals (SDNN), two nonlinear parameters of HRV and sex considered to be the top 6 predictors.</p><p><strong>Conclusion: </strong>We provided a feasibility study of HRV as a potential biomarker for depression. The proposed model based on HRV provides clinicians with a quantitative auxiliary diagnostic tool, which is assist to improving the accuracy and efficiency of depression diagnosis, and can also be utilized for the monitoring and prevention of depression.</p>","PeriodicalId":9029,"journal":{"name":"BMC Psychiatry","volume":"24 1","pages":"914"},"PeriodicalIF":3.4,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142852421","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The impact of a coach-guided personalized depression risk communication program on the risk of major depressive episode: study protocol for a randomized controlled trial.","authors":"JianLi Wang, Cindy Feng, Mohammad Hajizadeh, Alain Lesage","doi":"10.1186/s12888-024-06393-9","DOIUrl":"https://doi.org/10.1186/s12888-024-06393-9","url":null,"abstract":"<p><strong>Background: </strong>Depression is a highly prevalent and disabling mental health problem. Self-help has been strongly advocated for dealing with depression. Built upon the research on risk prediction modeling and risk communication, we developed a coach-guided, personalized depression risk communication tool (PDRC) for sharing information about individualized depression risk and evidence-based self-help strategies. The primary objective of this project is to evaluate the impact of the PDRC on the 12-month risk of major depressive episode (MDE) in Canadians who are at high risk of MDE.</p><p><strong>Methods: </strong>This is an assessor-blinded randomized controlled trial (RCT) with two arms. We will recruit 500 males and 500 females in the communities across the country. Individuals are eligible, if they: (1) are 18 years or older, (2) have not had a depressive episode in the past two months, (3) are at high risk of MDE based on the sex-specific risk predictive algorithms for MDE (predicted risk of 6.5% + for men and of 11.2% + for women), (4) can communicate in either English or French, and (5) agree to be contacted for follow-up interviews. After screening and baseline assessment, participants will be randomized by sex into intervention and control group in a 1:1 ratio. Participants in the intervention group will receive the coach-guided PDRC. The participants are assessed at baseline, 3 and 12 months via computer assisted telephone interview system, regarding the presence of MDE, depressive and anxiety symptoms, use of self-help strategies, mental health services use and self-efficacy.</p><p><strong>Discussion: </strong>The coach-guided PDRC may empower users to actively engage in self-management, leading to reduced risk of MDE. If successful, the coach-guided PDRC will lead to a novel selective prevention program that is closely aligned with the tiered mental health services model, contributing to early prevention of depression and better mental health wellbeing.</p><p><strong>Date of trial registration: </strong>2024-10-02.</p><p><strong>Protocol version and date: </strong>December 6, 2024. Version #1.</p><p><strong>Trial registration: </strong>NCT06619366.</p>","PeriodicalId":9029,"journal":{"name":"BMC Psychiatry","volume":"24 1","pages":"916"},"PeriodicalIF":3.4,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142852450","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Using hierarchical drift diffusion models to elucidate computational mechanisms of reduced reward sensitivity in adolescent major depressive disorder.","authors":"Lei Shen, Ya-Xin Hu, Qin-Yu Lv, Zheng-Hui Yi, Jing-Bo Gong, Chao Yan","doi":"10.1186/s12888-024-06353-3","DOIUrl":"https://doi.org/10.1186/s12888-024-06353-3","url":null,"abstract":"<p><strong>Background: </strong>Anhedonia-a core symptom of major depressive disorder (MDD)-is closely related to diminished reward sensitivity. Nonetheless, the psychopathological and computational mechanism underlying anhedonia in young patients with MDD remains unclear. Therefore, this study aims to investigate reward sensitivity in adolescents and young adults with MDD using computational modelling.</p><p><strong>Methods: </strong>Overall, 70 patients with MDD and 54 age- and sex-matched healthy controls (HC) completed a probabilistic reward task (PRT) to assess their general behavioral inclination towards more frequently reinforced stimuli (i.e., \"response bias\"). Bayesian hierarchical drift diffusion modeling (HDDM) was employed to determine changes in reward sensitivity and computational process during decision-making.</p><p><strong>Results: </strong>Adolescents with depression showed a trend toward reduced response bias compared to those in HC. HDDM analysis revealed wider decision thresholds in both adolescents and young adults with MDD group. Adolescents with MDD exhibited significantly lower drift rates and reduced starting point bias compared to those in HC. Higher anhedonia levels were linked to lower drift rates and wider decision thresholds. Additionally, increased discriminability correlated with higher drift rates, while higher response bias was linked to larger starting points.</p><p><strong>Conclusions: </strong>Our findings suggest that reduced reward sensitivity and slower evidence accumulation during reward learning may serve as potential indicators of anhedonia in adolescents with MDD. These findings provided crucial insights into the dysregulated positive affect model, underscoring a dysfunctional reward system as a key factor in anhedonia developmental psychopathology in depression.</p>","PeriodicalId":9029,"journal":{"name":"BMC Psychiatry","volume":"24 1","pages":"933"},"PeriodicalIF":3.4,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142851980","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring the subjective experience of researchers and co-researchers with lived experience of psychosis high risk states: a qualitative analysis within a participatory research process.","authors":"Melanie Trimmel, Antonia Renner, Nilufar Mossaheb, Fabian Friedrich, Alexander Kaltenboeck, Josef S Baumgartner, Raphaela E Kaisler, Zsuzsa Litvan, The Voice Consortium, Barbara Hinterbuchinger","doi":"10.1186/s12888-024-06367-x","DOIUrl":"https://doi.org/10.1186/s12888-024-06367-x","url":null,"abstract":"<p><strong>Background: </strong>The involvement and engagement of people with lived experience is considered increasingly important in health research. A growing corpus of literature on the involvement of people with lived experience of mental health conditions, including people at psychosis high risk states, can be found. This study aims to explore the subjective experience of researchers and co-researchers with lived experience of psychosis high risk states who were involved in a participatory research project.</p><p><strong>Methods: </strong>In this study with a combined participatory and qualitative research approach, we used a reflexive thematic analysis approach to systematically analyse open reflection reports from researchers and co-researchers with lived experience of psychosis high risk states, who took part in a participatory research project (VOICE). All participants (n = 12) were asked to anonymously write reflection reports on their subjective experience of participatory research. There were no formal or content-related instructions for writing the reflection reports. Reflection reports provided by eight participants were qualitatively analysed.</p><p><strong>Results: </strong>Three themes were identified from the analysis of the reflection reports. First \"When uncertainty becomes a unifying element - reflecting on expectations and roles\". Second \"Fostering community growth: creating an environment for collaborative teamwork as well as new and creative directions\". Third \"Exploring personal and scientific achievements of the project\". At the outset of the research project, the researchers' focus was on expectations and reflections on their role within the project, accompanied by a feeling of uncertainty. Subsequently, a sense of community developed within a favourable study framework. Finally, attention focused on research project outcomes and personal achievements within the project.</p><p><strong>Conclusion: </strong>The analysis of the anonymous reflection reports on a participatory research project indicates that there was a positive collaboration between participants with and without lived experience of psychosis high risk states, wherein they were able to interact on an equal footing. Participants reported an experience of equal cooperation and gained relevant personal insights from project participation. Although we do not have clear evidence of experiences of power imbalances or perceived hierarchies based on the analysed reports, these cannot be ruled out and have to be addressed in future research.</p>","PeriodicalId":9029,"journal":{"name":"BMC Psychiatry","volume":"24 1","pages":"899"},"PeriodicalIF":3.4,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142852432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and associated factors of depression among refugees in East Africa: a systematic review and meta-analysis.","authors":"Abdu Hailu Shibeshi, Bizunesh Fantahun Kase, Abdulkerim Hassen Moloro, Molla Getie Mehari, Abubeker Alebachew Seid","doi":"10.1186/s12888-024-06371-1","DOIUrl":"10.1186/s12888-024-06371-1","url":null,"abstract":"<p><strong>Introduction: </strong>Depression is a common and debilitating mental health issue among refugees in East Africa, who face numerous challenges. However, there is a lack of systematic reviews and meta-analyses that have explored the pooled prevalence and associated factors of depression among refugees in East Africa. This study aims to investigate the pooled prevalence of depression and its associated factors among refugees living in East Africa.</p><p><strong>Methods: </strong>A systematic search was conducted across several databases, including PubMed/MEDLINE, CINAHL, ScienceDirect, African Journals of Online (AJOL), and Google Scholar. The quality of the included studies was assessed using a Joanna Briggs Institute (JBI) quality appraisal tool. Statistical analysis was carried out using STATA-17 software packages, and a meta-analysis was conducted using a random-effects model. Heterogeneity among the studies was assessed using the I² statistic. Publication bias was evaluated using the DOI plot, Luis Furuya Kanamori (LFK) index, and Egger's test. For associated factors of depression, effect sizes (odds ratio) with 95% confidence intervals were analyzed.</p><p><strong>Result: </strong>A total of eight studies involving 6,388 participants were included in this systematic review and meta-analysis, all of which were assessed to have a low risk of bias. The pooled prevalence of depression was 50.60%, with a 95% CI (35.49%, 65.71). Regarding factors associated with depression; being female [(OR = 2.01; 95% CI (1.06, 3.82)], having poor social support [OR 5.88; 95% CI (2.53, 13.67)], and experienced eight or more traumatic events [OR = 3.31;95% CI (1.74, 6.31) were positively associated factors with depression.</p><p><strong>Conclusion: </strong>The pooled prevalence of depression among refugees in East Africa was found to be significantly high. Female participants, poor social support, and experienced eight or more traumatic events were factors affecting depression among refugees in East Africa. Therefore, policymakers and health personnel in East Africa should prioritize addressing the needs of female participants, individuals with poor social support, and those who have experienced eight or more traumatic events.</p>","PeriodicalId":9029,"journal":{"name":"BMC Psychiatry","volume":"24 1","pages":"924"},"PeriodicalIF":3.4,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142852436","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biological links between psychological factors and adolescent depression: childhood trauma, rumination, and resilience.","authors":"Xunyi Guo, Gan Tang, Feng Lin, Haiyan Fang, Jing Chen, Tao Zou","doi":"10.1186/s12888-024-06369-9","DOIUrl":"https://doi.org/10.1186/s12888-024-06369-9","url":null,"abstract":"<p><strong>Background: </strong>The psychosocial factors play an important role in the development of depression in adolescents. we used metabolomics techniques to explore the links among childhood trauma, rumination, resilience, and adolescent depression.</p><p><strong>Methods: </strong>We selected 57 adolescent depression patients and 53 healthy adolescents. The Childhood Trauma Questionnaire (CTQ), Hamilton Depression Scale (HAMD), Resilience Scale (CD-RISC), and Redundant Thinking Response Scale (RRS) were employed for the purpose of psychological assessment. The patients were regrouped according to their scores using the 27% high-low grouping method. Blood specimens were collected from all adolescents and metabolic data were obtained using LC-MS.</p><p><strong>Results: </strong>We found no statistically significant difference between the groups in terms of age, gender, and body mass index (BMI). HAMD, CTQ, and RRS scores were significantly higher in the adolescent depression group (MDD) than in the adolescent healthy control group (HC), and CD-RISP scores were significantly lower than in the HC group (P < 0.001). There were significant differences between the low childhood trauma group (LCT) and high childhood trauma group (HCT), the low rumination group (LRR) and high rumination group (HRR), and the low resilience group (LPR) and high resilience group (HPR) (P < 0.001). RRS, CTQ and HAMD scores were positively correlated, RRS and CTQ scores were positively correlated, CD-RIS was negatively correlated with HAMD, RRS and CTQ scores (P < 0.01). More importantly, we found that DHEAS and LPA (22:6) were identified as significant differential metabolites in both the depressed and normal groups, as well as in the high and low childhood trauma groups. N-Acetyl-L-aspartic acid and DHEAS were identified as significant differential metabolites in both the depressed and normal groups, as well as in the high and low childhood rumination groups. Pseudouridine and LPA(22:6) were identified as significant differential metabolites in both the depressed and normal groups, as well as in the high and low childhood resilience groups.</p><p><strong>Conclusion: </strong>Psychological factors (childhood trauma, rumination, resilience) are biologically linked to the development of depression in adolescents. The impact of rumination on adolescent depression may be associated with DHEA. The impact of childhood trauma and resilience on adolescent depression may be associated with LPA (22:6).</p>","PeriodicalId":9029,"journal":{"name":"BMC Psychiatry","volume":"24 1","pages":"907"},"PeriodicalIF":3.4,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142852386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Differential late-stage face processing in autism: a magnetoencephalographic study of fusiform gyrus activation.","authors":"Darko Sarovic, Justin Schneiderman, Sebastian Lundström, Bushra Riaz, Elena Orekhova, Sheraz Khan, Christopher Gillberg","doi":"10.1186/s12888-024-06400-z","DOIUrl":"https://doi.org/10.1186/s12888-024-06400-z","url":null,"abstract":"<p><strong>Background: </strong>Autism is associated with alterations of social communication, such as during face-to-face interactions. This study aimed to probe face processing in autistics with normal IQ utilizing magnetoencephalography to examine event-related fields within the fusiform gyrus during face perception.</p><p><strong>Methods: </strong>A case-control cohort of 22 individuals diagnosed with autism and 20 age-matched controls (all male, age 29.3 ± 6.9 years) underwent magnetoencephalographic scanning during an active task while observing neutral faces, face-like pareidolic objects, and non-face objects. The fusiform face area was identified using a face localizer for each participant, and the cortical activation pattern was normalized onto an average brain for subsequent analysis.</p><p><strong>Results: </strong>Early post-stimulus activation amplitudes (before 100-200 ms) indicated differentiation between stimuli containing fundamental facial features and non-face objects in both groups. In contrast, later activation (400-550 ms) differentiated real faces from both pareidolic and non-face objects across both groups and faces from objects in controls but not in autistics. There was no effect of autistic-like traits.</p><p><strong>Conclusions: </strong>The absence of group differences in early activation suggest intact face detection in autistics possessing a normal IQ. Later activation captures a greater degree of the complexity and social information from actual faces. Although both groups distinguished faces from pareidolic and non-face objects, the control group exhibited a slightly heightened differentiation at this latency, indicating a potential disadvantage for autistics in real face processing. The subtle difference in late-stage face processing observed in autistic individuals may reflect specific cognitive mechanisms related to face perception in autism.</p>","PeriodicalId":9029,"journal":{"name":"BMC Psychiatry","volume":"24 1","pages":"900"},"PeriodicalIF":3.4,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142852391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between cognitive function, antioxidants, and clinical variables in Chinese patients with schizophrenia.","authors":"Dan Li, Yuanyuan Huang, Hongxin Lu, Sumiao Zhou, Shixuan Feng, Hehua Li, Xuejing Li, Yi Guo, Chunlian Fu, Guiying Chen, Yuping Ning, Fengchun Wu, Lianqi Liu","doi":"10.1186/s12888-024-06335-5","DOIUrl":"https://doi.org/10.1186/s12888-024-06335-5","url":null,"abstract":"<p><strong>Objective: </strong>Cognitive dysfunction is a prevalent and intricate manifestation of schizophrenia (SCZ) that may be associated with distinct clinical factors and the presence of antioxidants, which relationship is unclear. The study aimed to investigate cognitive function and its influencing factors in Chinese patients with SCZ.</p><p><strong>Methods: </strong>A group of 133 patients with SCZ and 120 healthy controls (HCs) were recruited. The MATRICS Consensus Cognitive Battery (MCCB) was utilized to evaluate cognitive ability, and the Positive and Negative Syndrome Scale (PANSS) was used to assess clinical symptoms. Levels of plasma superoxide dismutase (SOD), serum albumin (ALB) and uric acid (UA) were assessed.</p><p><strong>Results: </strong>Compared with HCs, patients with SCZ exhibited lower cognitive performance as indicated by MCCB scores, including the dimensions of speed of processing, attention/vigilance, working memory, verbal learning, and visual learning. In the SCZ group, total PANSS scores were negatively associated with all MCCB dimensions (all p < 0.05), except for the attention/vigilance score. The PANSS-negative and PANSS-cognitive subscores were negatively associated with speed of processing, verbal learning, and visual learning scores (all p < 0.05). The PANSS-excited subscores showed a negative correlation with working memory and visual learning scores (all p < 0.05). ALB levels significantly decreased, and their UA and SOD levels were notably elevated compared to HCs (all p < 0.05). ALB levels and PANSS-negative factors were correlated with to speed of processing, working memory, and visual learning dimensions. SOD levels were independent contributors to the attention/vigilance dimension.</p><p><strong>Conclusion: </strong>The cognitive function was decreased in SCZ. The degree of cognitive impairment was closely related to ALB, SOD levels and negative clinical symptoms.</p>","PeriodicalId":9029,"journal":{"name":"BMC Psychiatry","volume":"24 1","pages":"912"},"PeriodicalIF":3.4,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142852418","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring autism spectrum disorder and co-occurring trait associations to elucidate multivariate genetic mechanisms and insights.","authors":"Karoliina Salenius, Niina Väljä, Sini Thusberg, Francois Iris, Christine Ladd-Acosta, Christophe Roos, Matti Nykter, Alessio Fasano, Reija Autio, Jake Lin","doi":"10.1186/s12888-024-06392-w","DOIUrl":"https://doi.org/10.1186/s12888-024-06392-w","url":null,"abstract":"<p><strong>Background: </strong>Autism spectrum disorder (ASD) is a partially heritable neurodevelopmental trait, and people with ASD may also have other co-occurring trait such as ADHD, anxiety disorders, depression, mental health issues, learning difficulty, physical health traits and communication challenges. The concomitant development of ASD and other neurological traits is assumed to result from a complex interplay between genetics and the environment. However, only a limited number of studies have performed multivariate genome-wide association studies (GWAS) for ASD.</p><p><strong>Methods: </strong>We conducted to-date the largest multivariate GWAS on ASD and 8 ASD co-occurring traits (ADHD, ADHD childhood, anxiety stress (ASDR), bipolar (BIP), disruptive behaviour (DBD), educational attainment (EA), major depression, and schizophrenia (SCZ)) using summary statistics from leading studies. Multivariate associations and central traits were further identified. Subsequently, colocalization and Mendelian randomization (MR) analysis were performed on the associations identified with the central traits containing ASD. To further validate our findings, pathway and quantified trait loci (QTL) resources as well as independent datasets consisting of 112 (45 probands) whole genome sequence data from the GEMMA project were utilized.</p><p><strong>Results: </strong>Multivariate GWAS resulted in 637 significant associations (p < 5e-8), among which 322 are reported for the first time for any trait. 37 SNPs were identified to contain ASD and one or more traits in their central trait set, including variants mapped to known SFARI ASD genes MAPT, CADPS and NEGR1 as well as novel ASD genes KANSL1, NSF and NTM, associated with immune response, synaptic transmission, and neurite growth respectively. Mendelian randomization analyses found that genetic liability for ADHD childhood, ASRD and DBT has causal effects on the risk of ASD while genetic liability for ASD has causal effects on the risk of ADHD, ADHD childhood, BIP, WA, MDD and SCZ. Frequency differences of SNPs found in NTM and CADPS genes, respectively associated with neurite growth and neural/endocrine calcium regulation, were found between GEMMA ASD probands and controls. Pathway, QTL and cell type enrichment implicated microbiome, enteric inflammation, and central nervous system enrichments.</p><p><strong>Conclusions: </strong>Our study, combining multivariate GWAS with systematic decomposition, identified novel genetic associations related to ASD and ASD co-occurring driver traits. Statistical tests were applied to discern evidence for shared and interpretable liability between ASD and co-occurring traits. These findings expand upon the current understanding of the complex genetics regulating ASD and reveal insights of neuronal brain disruptions potentially driving development and manifestation.</p>","PeriodicalId":9029,"journal":{"name":"BMC Psychiatry","volume":"24 1","pages":"934"},"PeriodicalIF":3.4,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142852431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mediating effect of social constraints in the association between stigma and depressive symptoms in Chinese breast cancer patients.","authors":"ChunYing Cui, Lie Wang","doi":"10.1186/s12888-024-06379-7","DOIUrl":"https://doi.org/10.1186/s12888-024-06379-7","url":null,"abstract":"<p><strong>Purpose: </strong>The present study aimed to investigate the effect of stigma on depressive symptoms and explore the mediating role of social constraints between stigma and depressive symptoms in Chinese breast cancer (BC) patients.</p><p><strong>Methods: </strong>A cross-sectional design was conducted in China from December 2020 to July 2021. Out of 256 participants, 222 BC patients completed the questionnaires composed of demographic and clinical information, Patient Health Questionnaire-9 (PHQ-9), Social Impact Scale (SIS), and 15-item Social Constraints Scale (SCS-15). The hierarchical regression analysis was adopted to explore the associations of stigma and social constraints with depressive symptoms and the mediating role of social constraints.</p><p><strong>Results: </strong>Approximately 20% of participants reported having depressive symptoms in Chinese BC patients. The indirect effect of stigma on depressive symptoms through social constraints was significant (a*b = 0.24, 95%CI = 0.15-0.33). When the mediator was controlled for, the direct impact of stigma on depressive symptoms was also significant (c'=0.16, p < 0.01).</p><p><strong>Conclusion: </strong>The current study suggested that stigma may contribute to developing depressive symptoms by increasing social constraints in Chinese BC patients. Interventions based on reducing stigma and social constraints should be conducted to improve mental health in BC patients.</p>","PeriodicalId":9029,"journal":{"name":"BMC Psychiatry","volume":"24 1","pages":"923"},"PeriodicalIF":3.4,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142852435","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}