Pub Date : 2024-08-07DOI: 10.1101/2024.08.05.24311492
Sarah Livermon, Audrey Michel, Yiyang Zhang, Kaitlyn Petz, Emma Toner, Mark Rucker, Mehdi Boukhechba, Laura E. Barnes, Bethany A. Teachman
Anxiety is highly prevalent among college communities, with significant numbers of students, faculty, and staff experiencing severe anxiety symptoms. Despite this high prevalence, many individuals remain untreated due to barriers such as time, stigma, waitlists, and cost of services. Digital mental health interventions (DMHIs), including Cognitive Bias Modification for Interpretation (CBM-I), offer promising solutions to enhance access to mental health care, yet there is a critical need to evaluate user experience and acceptability of DMHIs. This study used a mixed methods approach to gather feedback from users of the first trial of a mobile application called "Hoos Think Calmly" (HTC), which offers brief CBM-I training to reduce negative interpretations and increase flexible thinking in response to stressors commonly experienced by students, faculty, and staff at a large public university. Following the parent trial (https://osf.io/36grh/) qualitative data was collected through semi-structured interviews from a subset of participants (n=22). Thematic analysis revealed five main themes: Effectiveness of the Training Program; Feedback on Training Sessions; Barriers to Using the App; Use Patterns; and Suggestions for Improvement. Feedback highlighted the importance of greater content relatability and personalization, while also identifying forgetfulness and not understanding the intervention format or rationale as barriers to using the program. Participants tended to use the program at routine or scheduled times rather than during specific moments of stress or anxiety and relied heavily on the app’s notification system. Suggestions for improvement focused on incorporating progress tracking, offering greater customization options, and integrating more diverse training content. Additionally, biweekly user experience questionnaires sent to all participants in the active treatment condition (n=134) during the parent trial showed most participants reported the program to be slightly to somewhat helpful in reducing or managing their anxiety or stress. Findings highlight the importance of understanding users’ experience and iterative DMHI development.
{"title":"A Mobile Intervention to Reduce Anxiety Among University Students, Faculty, and Staff: Mixed Methods Study on Users’ Experiences","authors":"Sarah Livermon, Audrey Michel, Yiyang Zhang, Kaitlyn Petz, Emma Toner, Mark Rucker, Mehdi Boukhechba, Laura E. Barnes, Bethany A. Teachman","doi":"10.1101/2024.08.05.24311492","DOIUrl":"https://doi.org/10.1101/2024.08.05.24311492","url":null,"abstract":"Anxiety is highly prevalent among college communities, with significant numbers of students, faculty, and staff experiencing severe anxiety symptoms. Despite this high prevalence, many individuals remain untreated due to barriers such as time, stigma, waitlists, and cost of services. Digital mental health interventions (DMHIs), including Cognitive Bias Modification for Interpretation (CBM-I), offer promising solutions to enhance access to mental health care, yet there is a critical need to evaluate user experience and acceptability of DMHIs. This study used a mixed methods approach to gather feedback from users of the first trial of a mobile application called \"Hoos Think Calmly\" (HTC), which offers brief CBM-I training to reduce negative interpretations and increase flexible thinking in response to stressors commonly experienced by students, faculty, and staff at a large public university. Following the parent trial (https://osf.io/36grh/) qualitative data was collected through semi-structured interviews from a subset of participants (n=22). Thematic analysis revealed five main themes: Effectiveness of the Training Program; Feedback on Training Sessions; Barriers to Using the App; Use Patterns; and Suggestions for Improvement. Feedback highlighted the importance of greater content relatability and personalization, while also identifying forgetfulness and not understanding the intervention format or rationale as barriers to using the program. Participants tended to use the program at routine or scheduled times rather than during specific moments of stress or anxiety and relied heavily on the app’s notification system. Suggestions for improvement focused on incorporating progress tracking, offering greater customization options, and integrating more diverse training content. Additionally, biweekly user experience questionnaires sent to all participants in the active treatment condition (n=134) during the parent trial showed most participants reported the program to be slightly to somewhat helpful in reducing or managing their anxiety or stress. Findings highlight the importance of understanding users’ experience and iterative DMHI development.","PeriodicalId":501388,"journal":{"name":"medRxiv - Psychiatry and Clinical Psychology","volume":"195 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141936739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-07DOI: 10.1101/2024.08.06.24311560
Jack Nejand, Margherita Malanchini, Ivan Voronin, Thalia Eley, Kaili Rimfeld
Background: Comorbidity and heterogeneity in psychiatric disorders may stem from a general psychopathology (p) factor influenced by both genetic and environmental factors. Although the relative contributions of these influences on psychopathology are established, the longitudinal associations between p-factor and specific environmental exposures across development are not well understood. Using a longitudinal genetically informative design, this study investigates the association between the home environment and p-factor across childhood. Methods: Data were obtained from the Twins Early Development Study (TEDS). Cross-lagged panel analyses were conducted separately to ascertain the direction of associations between parent-rated p, self-rated p, and self-rated home environment (chaos at home and parental discipline) at ages 9, 12, and 16 (N=6,213). Biometric autoregressive cross-lagged twin models were used to assess the aetiology of these associations, and MZ differences analyses were used to control for familial effects. Results: Both latent factors were stable over time, although twin-rated p-factor (r = 0.44-0.40) was more variable than parent-rated p-factor (r = 0.72-0.63). 'Home environment' was more variable than p-factor uniformly. Small, significant bi-directional associations were found between p-factor and home environment, with stronger cross-lagged paths from p-factor to home environment than vice versa. These longitudinal associations persisted over time, though attenuated for parent-rated p-factor. Genetic analyses revealed that bi-directional cross-lagged paths were largely explained by shared environmental factors, with a smaller proportion explained by genetic factors. This pattern of results was confirmed in MZ differences analyses. Conclusions: Our findings suggest a dynamic and bidirectional relationship between p-factor and the home environment across development, predominantly influenced by shared environmental factors. Changes in one can influence the other, highlighting the complexity of psychopathology's environmental influences. This underscores the need for further investigation into gene-environment interplay to inform approaches to psychopathology prevention and intervention.
背景：精神疾病的共存性和异质性可能源于受遗传和环境因素影响的一般精神病理学（p）因子。虽然这些影响因素对精神病理学的相对贡献已经确定，但人们对 p 因子与整个发育过程中特定环境暴露之间的纵向关联还不甚了解。本研究采用纵向遗传信息设计，调查了儿童期家庭环境与p因子之间的关系。研究方法数据来自双胞胎早期发育研究（TEDS）。分别进行了交叉滞后面板分析，以确定9、12和16岁时父母评定的p、自我评定的p和自我评定的家庭环境（家庭混乱和父母管教）之间的关联方向（N=6,213）。采用生物自回归交叉滞后双胞胎模型来评估这些关联的病因，并采用 MZ 差异分析来控制家族效应。研究结果两个潜因子随着时间的推移都很稳定，但双胞胎评定的p因子（r = 0.44-0.40）比父母评定的p因子（r = 0.72-0.63）更具可变性。家庭环境 "比 p 因子的变化更大。在 p 因素与家庭环境之间发现了微小而重要的双向联系，p 因素与家庭环境之间的交叉滞后路径比反向滞后路径更强。这些纵向关联随着时间的推移而持续存在，但父母评定的 p 因子则有所减弱。遗传分析表明，双向交叉滞后路径主要由共同的环境因素解释，遗传因素解释的比例较小。这种结果模式在 MZ 差异分析中得到了证实。结论我们的研究结果表明，在整个成长过程中，P因子与家庭环境之间存在动态的双向关系，主要受共同环境因素的影响。其中一个因素的变化会影响另一个因素，这凸显了精神病理学环境影响的复杂性。这强调了进一步研究基因-环境相互作用的必要性，从而为心理病理学预防和干预方法提供依据。
{"title":"How are children's perceptions of the home environment associated with a general psychopathology factor across childhood?","authors":"Jack Nejand, Margherita Malanchini, Ivan Voronin, Thalia Eley, Kaili Rimfeld","doi":"10.1101/2024.08.06.24311560","DOIUrl":"https://doi.org/10.1101/2024.08.06.24311560","url":null,"abstract":"Background: Comorbidity and heterogeneity in psychiatric disorders may stem from a general psychopathology (p) factor influenced by both genetic and environmental factors. Although the relative contributions of these influences on psychopathology are established, the longitudinal associations between p-factor and specific environmental exposures across development are not well understood. Using a longitudinal genetically informative design, this study investigates the association between the home environment and p-factor across childhood. Methods: Data were obtained from the Twins Early Development Study (TEDS). Cross-lagged panel analyses were conducted separately to ascertain the direction of associations between parent-rated p, self-rated p, and self-rated home environment (chaos at home and parental discipline) at ages 9, 12, and 16 (N=6,213). Biometric autoregressive cross-lagged twin models were used to assess the aetiology of these associations, and MZ differences analyses were used to control for familial effects. Results: Both latent factors were stable over time, although twin-rated p-factor (r = 0.44-0.40) was more variable than parent-rated p-factor (r = 0.72-0.63). 'Home environment' was more variable than p-factor uniformly. Small, significant bi-directional associations were found between p-factor and home environment, with stronger cross-lagged paths from p-factor to home environment than vice versa. These longitudinal associations persisted over time, though attenuated for parent-rated p-factor. Genetic analyses revealed that bi-directional cross-lagged paths were largely explained by shared environmental factors, with a smaller proportion explained by genetic factors. This pattern of results was confirmed in MZ differences analyses. Conclusions: Our findings suggest a dynamic and bidirectional relationship between p-factor and the home environment across development, predominantly influenced by shared environmental factors. Changes in one can influence the other, highlighting the complexity of psychopathology's environmental influences. This underscores the need for further investigation into gene-environment interplay to inform approaches to psychopathology prevention and intervention.","PeriodicalId":501388,"journal":{"name":"medRxiv - Psychiatry and Clinical Psychology","volume":"25 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141968974","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-07DOI: 10.1101/2024.08.06.24311477
Jacqueline M Beltran, Yael Jacob, Marishka Mehta, Tasnim Hossain, Abigail Adams, Samantha Fontaine, John Torous, Catherine A McDonough, Matthew Johnson, Andrew Delgado, James W Murrough, Laurel S Morris
Background: Mood and anxiety disorders are highly prevalent and comorbid worldwide, with variability in symptom severity that fluctuates over time. Digital phenotyping, a growing field that aims to characterize clinical, cognitive and behavioral features via personal digital devices, enables continuous quantification of symptom severity in the real world, and in real-time. Methods: In this study, N=114 individuals with a mood or anxiety disorder (MA) or healthy controls (HC) were enrolled and completed 30-days of ecological momentary assessments (EMA) of symptom severity. Novel real-world measures of anxiety, distress and depression were developed based on the established Mood and Anxiety Symptom Questionnaire (MASQ). The full MASQ was also completed in the laboratory (in-lab). Additional EMA measures related to extrinsic and intrinsic motivation, and passive activity data were also collected over the same 30-days. Mixed-effects models adjusting for time and individual tested the association between real-world symptom severity EMA and the corresponding full MASQ sub-scores. A graph theory neural network model (DEPNA) was applied to all data to estimate symptom interactions. Results: There was overall good adherence over 30-days (MA=69.5%, HC=71.2% completion), with no group difference (t(58)=0.874, p=0.386). Real-world measures of anxiety/distress/depression were associated with their corresponding MASQ measure within the MA group (t's > 2.33, p's < 0.024). Physical activity (steps) was negatively associated with real-world distress and depression (IRR's > 0.93, p's ≤ 0.05). Both intrinsic and extrinsic motivation were negatively associated with real-world distress/depression (IRR's > 0.82, p's < 0.001). DEPNA revealed that both extrinsic and intrinsic motivation significantly influenced other symptom severity measures to a greater extent in the MA group compared to the HC group (extrinsic/intrinsic motivation: t(46) = 2.62, p < 0.02, q FDR < 0.05, Cohen's d = 0.76; t(46) = 2.69, p < 0.01, q FDR < 0.05, Cohen's d = 0.78 respectively), and that steps significantly influenced intrinsic motivation (t(46) = 3.24, p < 0.003, q FDR < 0.05, Cohen's d = 0.94). Conclusions: Novel real-world measures of anxiety, distress and depression significantly related to their corresponding established in-lab measures of these symptom domains in individuals with mood and anxiety disorders. Novel, exploratory measures of extrinsic and intrinsic motivation also significantly related to real-world mood and anxiety symptoms and had the greatest influencing degree on patients' overall symptom profile. This suggests that measures of cognitive constructs related to drive and activity may be useful in characterizing phenotypes in the real-world.
背景：情绪障碍和焦虑症在全球范围内发病率很高，并发症多，症状严重程度随时间变化而波动。数字表型技术（Digital phenotyping）是一个不断发展的领域，旨在通过个人数字设备描述临床、认知和行为特征，可在现实世界中对症状严重程度进行持续、实时的量化。研究方法本研究共招募了 114 名情绪或焦虑障碍（MA）患者或健康对照组（HC），并完成了 30 天的症状严重程度生态瞬间评估（EMA）。在已制定的情绪和焦虑症状问卷（MASQ）的基础上，开发了新的焦虑、痛苦和抑郁的真实世界测量方法。完整的 MASQ 也在实验室内完成（in-lab）。在同样的 30 天内，还收集了与外在和内在动机相关的其他 EMA 测量以及被动活动数据。对时间和个体进行调整的混合效应模型测试了真实世界症状严重程度 EMA 与相应的 MASQ 总分之间的关联。图论神经网络模型（DEPNA）适用于所有数据，以估计症状之间的相互作用。结果：30 天内的总体坚持率良好（MA=69.5%，HC=71.2%），没有组间差异（t(58)=0.874, p=0.386）。在 MA 组中，焦虑/压力/抑郁的真实世界测量与相应的 MASQ 测量相关（t's > 2.33，p's < 0.024）。体力活动（步数）与现实世界中的焦虑和抑郁呈负相关（IRR为0.93，P≤0.05）。内在动机和外在动机均与现实世界的苦恼/抑郁呈负相关（IRR 为 0.82，P 为 0.001）。DEPNA 显示，与 HC 组相比，外在动机和内在动机对 MA 组其他症状严重程度的影响更大（外在/内在动机：t(46) = 2.62，p < 0.02，q FDR <0.05，Cohen's d = 0.76；t(46) = 2.69，p <0.01，q FDR <0.05，Cohen's d = 0.78），步骤显著影响内在动机（t(46) = 3.24，p <0.003，q FDR <0.05，Cohen's d = 0.94）。结论新的真实世界焦虑、苦恼和抑郁测量结果与实验室内已确定的情绪和焦虑症患者这些症状领域的相应测量结果有显著相关性。外在动机和内在动机的新探索性测量也与真实世界中的情绪和焦虑症状有显著相关性，并且对患者的整体症状特征影响最大。这表明，与驱动力和活动相关的认知结构测量可能有助于描述真实世界中的表型特征。
{"title":"Relationships between depression, anxiety, and motivation in the real-world: Effects of physical activity and screentime","authors":"Jacqueline M Beltran, Yael Jacob, Marishka Mehta, Tasnim Hossain, Abigail Adams, Samantha Fontaine, John Torous, Catherine A McDonough, Matthew Johnson, Andrew Delgado, James W Murrough, Laurel S Morris","doi":"10.1101/2024.08.06.24311477","DOIUrl":"https://doi.org/10.1101/2024.08.06.24311477","url":null,"abstract":"Background: Mood and anxiety disorders are highly prevalent and comorbid worldwide, with variability in symptom severity that fluctuates over time. Digital phenotyping, a growing field that aims to characterize clinical, cognitive and behavioral features via personal digital devices, enables continuous quantification of symptom severity in the real world, and in real-time. Methods: In this study, N=114 individuals with a mood or anxiety disorder (MA) or healthy controls (HC) were enrolled and completed 30-days of ecological momentary assessments (EMA) of symptom severity. Novel real-world measures of anxiety, distress and depression were developed based on the established Mood and Anxiety Symptom Questionnaire (MASQ). The full MASQ was also completed in the laboratory (in-lab). Additional EMA measures related to extrinsic and intrinsic motivation, and passive activity data were also collected over the same 30-days. Mixed-effects models adjusting for time and individual tested the association between real-world symptom severity EMA and the corresponding full MASQ sub-scores. A graph theory neural network model (DEPNA) was applied to all data to estimate symptom interactions. Results: There was overall good adherence over 30-days (MA=69.5%, HC=71.2% completion), with no group difference (t(58)=0.874, p=0.386). Real-world measures of anxiety/distress/depression were associated with their corresponding MASQ measure within the MA group (t's > 2.33, p's < 0.024). Physical activity (steps) was negatively associated with real-world distress and depression (IRR's > 0.93, p's ≤ 0.05). Both intrinsic and extrinsic motivation were negatively associated with real-world distress/depression (IRR's > 0.82, p's < 0.001). DEPNA revealed that both extrinsic and intrinsic motivation significantly influenced other symptom severity measures to a greater extent in the MA group compared to the HC group (extrinsic/intrinsic motivation: t(46) = 2.62, p < 0.02, q FDR < 0.05, Cohen's d = 0.76; t(46) = 2.69, p < 0.01, q FDR < 0.05, Cohen's d = 0.78 respectively), and that steps significantly influenced intrinsic motivation (t(46) = 3.24, p < 0.003, q FDR < 0.05, Cohen's d = 0.94). Conclusions: Novel real-world measures of anxiety, distress and depression significantly related to their corresponding established in-lab measures of these symptom domains in individuals with mood and anxiety disorders. Novel, exploratory measures of extrinsic and intrinsic motivation also significantly related to real-world mood and anxiety symptoms and had the greatest influencing degree on patients' overall symptom profile. This suggests that measures of cognitive constructs related to drive and activity may be useful in characterizing phenotypes in the real-world.","PeriodicalId":501388,"journal":{"name":"medRxiv - Psychiatry and Clinical Psychology","volume":"40 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141936738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-07DOI: 10.1101/2024.08.01.24311271
Shu-xian Xu, Honggang Lyu, Mian-mian Chen, Kun Li, Lihua Yao, Xin-hui Xie, Zhongchun Liu
Background: This study aimed to examine the neurotrophic factors secreted from brain in depression by analyzing astrocyte-derived extracellular vesicles (ADEVs) isolated from plasma, and to explore the causal relationship between the expression of neurotrophic factors in the brain and depression. Methods: A total of 40 patients with treatment-resistant depression (TRD) and 35 matched healthy controls (HCs) were recruited at baseline, and 34 TRD patients completed the post-electroconvulsive therapy (ECT) visits. The concentrations of five neurotrophic factors in ADEVs were measured. A correlation analysis was performed between neurotrophic factors in ADEVs and neurogenesis marker doublecortin (DCX) in neuron-derived extracellular vesicles (NDEVs). Subsequently, Mendelian randomization (MR) study and cell experiments were conducted. Results: Our findings revealed a decrease in the level of epidermal growth factor (EGF) in ADEVs among TRD patients, with an increase observed post-ECT. The corrected area under the curve for EGF were larger than those for other neurotrophic factors: 0.99 (95% CI: 0.98-1.00). MR suggested that decreased expression levels of the EGF gene in the cortex constitute a risk factor for depression. We observed a positive correlation between the levels of EGF in ADEVs and DCX in NDEVs. Subsequently, cell experiments suggested that EGF can activate EGF receptor (EGFR) to trigger the PI3K-Akt pathway, participating in the promotion of DCX. Conclusions: This study provides the in vivo evidences supporting that a reduction in EGF levels in the central nervous system could potentially contribute to depression and serve as a biomarker for it. Additionally, the EGF/EGFR signaling pathway may be involved in regulating early neurogenesis traits in depression.
{"title":"Epidermal Growth Factor in the Brain: A Promising Biomarker for Depression","authors":"Shu-xian Xu, Honggang Lyu, Mian-mian Chen, Kun Li, Lihua Yao, Xin-hui Xie, Zhongchun Liu","doi":"10.1101/2024.08.01.24311271","DOIUrl":"https://doi.org/10.1101/2024.08.01.24311271","url":null,"abstract":"Background: This study aimed to examine the neurotrophic factors secreted from brain in depression by analyzing astrocyte-derived extracellular vesicles (ADEVs) isolated from plasma, and to explore the causal relationship between the expression of neurotrophic factors in the brain and depression.\u0000Methods: A total of 40 patients with treatment-resistant depression (TRD) and 35 matched healthy controls (HCs) were recruited at baseline, and 34 TRD patients completed the post-electroconvulsive therapy (ECT) visits. The concentrations of five neurotrophic factors in ADEVs were measured. A correlation analysis was performed between neurotrophic factors in ADEVs and neurogenesis marker doublecortin (DCX) in neuron-derived extracellular vesicles (NDEVs). Subsequently, Mendelian randomization (MR) study and cell experiments were conducted.\u0000Results: Our findings revealed a decrease in the level of epidermal growth factor (EGF) in ADEVs among TRD patients, with an increase observed post-ECT. The corrected area under the curve for EGF were larger than those for other neurotrophic factors: 0.99 (95% CI: 0.98-1.00). MR suggested that decreased expression levels of the EGF gene in the cortex constitute a risk factor for depression. We observed a positive correlation between the levels of EGF in ADEVs and DCX in NDEVs. Subsequently, cell experiments suggested that EGF can activate EGF receptor (EGFR) to trigger the PI3K-Akt pathway, participating in the promotion of DCX.\u0000Conclusions: This study provides the in vivo evidences supporting that a reduction in EGF levels in the central nervous system could potentially contribute to depression and serve as a biomarker for it. Additionally, the EGF/EGFR signaling pathway may be involved in regulating early neurogenesis traits in depression.","PeriodicalId":501388,"journal":{"name":"medRxiv - Psychiatry and Clinical Psychology","volume":"37 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141936743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-06DOI: 10.1101/2024.08.02.24311302
Jennifer Forsyth, Jinhan Zhu, Ariana Chavannes, Zachary Trevorrow, Mahnoor Hyat, Sam Sievertsen, Sophie Ferreira-Ianone, Matthew Conomos, Keith Nuechterlein, Robert Asarnow, Michael Green, Katherine Karlsgodt, Diana Perkins, Tyrone Cannon, Jean Addington, Kristen Cadenhead, Barbara Cornblatt, Matcheri Keshavan, Daniel Mathalon, William Stone, Ming Tsuang, Elaine Walker, Scott Woods, Katherine Narr, Sarah McEwen, Charles Schleifer, Cindy Yee, Caroline Diehl, Anika Guha, Gregory Miller, Aaron Alexander-Bloch, Jakob Seidlitz, Richard Bethlehem, Roel Ophoff, Carrie Bearden
Schizophrenia spectrum disorders (SSDs) are characterized by substantial clinical and genetic heterogeneity. Multiple recurrent copy number variants (CNVs) increase risk for SSDs; however, how known risk CNVs and broader genome-wide CNVs influence clinical variability is unclear. The current study examined associations between borderline intellectual functioning or childhood-onset psychosis, known risk CNVs, and burden of deletions affecting genes in 18 previously validated neurodevelopmental gene-sets in 618 SSD individuals. CNV associations were assessed for replication in 235 SSD relatives and 583 controls, and 9,930 youth from the Adolescent Brain Cognitive Development (ABCD) Study. Known SSD- and neurodevelopmental disorder (NDD)-risk CNVs were associated with borderline intellectual functioning in SSD cases (odds ratios (OR) = 7.09 and 4.57, respectively); NDD-risk deletions were nominally associated with childhood-onset psychosis (OR = 4.34). Furthermore, deletion of genes involved in regulating gene expression during fetal brain development was associated with borderline intellectual functioning across SSD cases and non-cases (OR = 2.58), with partial replication in the ABCD cohort. Exploratory analyses of cortical morphology showed associations between fetal gene regulatory gene deletions and altered gray matter volume and cortical thickness across cohorts. Results highlight contributions of known risk CNVs to phenotypic variability in SSD and the utility of a neurodevelopmental framework for identifying mechanisms that influence phenotypic variability in SSDs, as well as the broader population, with implications for personalized medicine approaches to care.
{"title":"Fetal Gene Regulatory Gene Deletions are Associated with Poor Cognition and Altered Cortical Morphology in Schizophrenia and Community-Based Samples","authors":"Jennifer Forsyth, Jinhan Zhu, Ariana Chavannes, Zachary Trevorrow, Mahnoor Hyat, Sam Sievertsen, Sophie Ferreira-Ianone, Matthew Conomos, Keith Nuechterlein, Robert Asarnow, Michael Green, Katherine Karlsgodt, Diana Perkins, Tyrone Cannon, Jean Addington, Kristen Cadenhead, Barbara Cornblatt, Matcheri Keshavan, Daniel Mathalon, William Stone, Ming Tsuang, Elaine Walker, Scott Woods, Katherine Narr, Sarah McEwen, Charles Schleifer, Cindy Yee, Caroline Diehl, Anika Guha, Gregory Miller, Aaron Alexander-Bloch, Jakob Seidlitz, Richard Bethlehem, Roel Ophoff, Carrie Bearden","doi":"10.1101/2024.08.02.24311302","DOIUrl":"https://doi.org/10.1101/2024.08.02.24311302","url":null,"abstract":"Schizophrenia spectrum disorders (SSDs) are characterized by substantial clinical and genetic heterogeneity. Multiple recurrent copy number variants (CNVs) increase risk for SSDs; however, how known risk CNVs and broader genome-wide CNVs influence clinical variability is unclear. The current study examined associations between borderline intellectual functioning or childhood-onset psychosis, known risk CNVs, and burden of deletions affecting genes in 18 previously validated neurodevelopmental gene-sets in 618 SSD individuals. CNV associations were assessed for replication in 235 SSD relatives and 583 controls, and 9,930 youth from the Adolescent Brain Cognitive Development (ABCD) Study. Known SSD- and neurodevelopmental disorder (NDD)-risk CNVs were associated with borderline intellectual functioning in SSD cases (odds ratios (OR) = 7.09 and 4.57, respectively); NDD-risk deletions were nominally associated with childhood-onset psychosis (OR = 4.34). Furthermore, deletion of genes involved in regulating gene expression during fetal brain development was associated with borderline intellectual functioning across SSD cases and non-cases (OR = 2.58), with partial replication in the ABCD cohort. Exploratory analyses of cortical morphology showed associations between fetal gene regulatory gene deletions and altered gray matter volume and cortical thickness across cohorts. Results highlight contributions of known risk CNVs to phenotypic variability in SSD and the utility of a neurodevelopmental framework for identifying mechanisms that influence phenotypic variability in SSDs, as well as the broader population, with implications for personalized medicine approaches to care.","PeriodicalId":501388,"journal":{"name":"medRxiv - Psychiatry and Clinical Psychology","volume":"59 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141936862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-06DOI: 10.1101/2024.08.05.24311522
Hwayeon Danielle Shin, Leah Carrier, Jessy Dame, Michelle Padley, Anika Daclan, Helen Wong, Ronessa Dass, Rachel Anne Dorey, Emma Stirling-Cameron, Jodi Langley, Janet A Curran
Indigenous youth's inherent strength and resilience play a vital role in their well-being and mental health. Protective factors, closely linked to resilience, spanning individual, family, and community levels reinforce positive mental health outcomes. The purpose of the present scoping review was to summarize the available literature that describes resilience and/or protective factors promoting mental health and well-being among Indigenous youth in Canada. As a secondary objective, this review investigated community involvement reported in the identified sources. JBI scoping review methodology was followed, and the search of PubMed, EMBASE, CINHAL, PsycINFO, ERIC, and Scopus commenced in August 2021, and was updated in February 2023. A targeted Google search was also conducted to identify eligible grey literature. A total of 61 papers were included in data extraction. The types of sources identified were observational (n=22), participatory action research (n=11), mixed/multi-methods (n=10), qualitative (n=9), case study (n=4), quasi-experimental (n=1), experimental (=1), and other designs such as quality improvement and program evaluation (n=3). Additionally, only a handful of included studies reported use of an Indigenous-specific approach, such as Two-Eyed seeing. Protective and resilience factors were identified across various levels such as individual (n=52), interpersonal (n=37), and wider environmental beyond social systems (n=37) levels. Forty studies described community involvement, which included non-specified community members, like friends or citizens (n=21), youth (n=19), Indigenous community members such as leaders and workers (n=14), and Elders (n=11). These groups were engaged to varying degrees, functioning either as equal collaborators, consultants, or, in some instances, as decision-makers.
{"title":"Resilience and Protective Factors for Mental Health among Indigenous Youth in Canada: A Scoping Review","authors":"Hwayeon Danielle Shin, Leah Carrier, Jessy Dame, Michelle Padley, Anika Daclan, Helen Wong, Ronessa Dass, Rachel Anne Dorey, Emma Stirling-Cameron, Jodi Langley, Janet A Curran","doi":"10.1101/2024.08.05.24311522","DOIUrl":"https://doi.org/10.1101/2024.08.05.24311522","url":null,"abstract":"Indigenous youth's inherent strength and resilience play a vital role in their well-being and mental health. Protective factors, closely linked to resilience, spanning individual, family, and community levels reinforce positive mental health outcomes. The purpose of the present scoping review was to summarize the available literature that describes resilience and/or protective factors promoting mental health and well-being among Indigenous youth in Canada. As a secondary objective, this review investigated community involvement reported in the identified sources. JBI scoping review methodology was followed, and the search of PubMed, EMBASE, CINHAL, PsycINFO, ERIC, and Scopus commenced in August 2021, and was updated in February 2023. A targeted Google search was also conducted to identify eligible grey literature. A total of 61 papers were included in data extraction. The types of sources identified were observational (n=22), participatory action research (n=11), mixed/multi-methods (n=10), qualitative (n=9), case study (n=4), quasi-experimental (n=1), experimental (=1), and other designs such as quality improvement and program evaluation (n=3). Additionally, only a handful of included studies reported use of an Indigenous-specific approach, such as Two-Eyed seeing. Protective and resilience factors were identified across various levels such as individual (n=52), interpersonal (n=37), and wider environmental beyond social systems (n=37) levels. Forty studies described community involvement, which included non-specified community members, like friends or citizens (n=21), youth (n=19), Indigenous community members such as leaders and workers (n=14), and Elders (n=11). These groups were engaged to varying degrees, functioning either as equal collaborators, consultants, or, in some instances, as decision-makers.","PeriodicalId":501388,"journal":{"name":"medRxiv - Psychiatry and Clinical Psychology","volume":"77 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141936867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-05DOI: 10.1101/2024.08.02.24311431
Hassan Moubarak, Chadia Haddad, Pascale Saleme, Evelyn Towair, Myriam El Khoury Malhame, Rajaa Chatila
Background. Burnout is a pervasively increasing threat to personal and professional wellbeing and performance. It is yet understudied in relation to basic psychological needs (BPN), especially in at-risk population such as medical residents. This study intends to explore the differential relationship between various aspects of burnout including depersonalization (DP), emotional exhaustion (EE) and lack of personal achievement (PA) and subsets of BPN satisfaction or frustration namely autonomy, relatedness, and competence, with the framework of the Self-Determination Theory (SDT) in healthcare. Materials. A total of 110 medical residents in various Lebanese hospitals were included. Demographics and standardized scales were used to measure basic psychological need satisfaction and frustration (BPNSFS), burnout (MBI), depression and anxiety (PHQ-4). Residents were also asked about subjective evaluation of academic training and level of impact by ongoing crises (COVID-19 pandemic, Beirut port explosion and financial breakdown). Results. Result point to alarming prevalence of burnout and mental distress in our sample. It also indicates a differential correlation between gender, financial security and various subsets of burnout. It lastly points to association of DP with overall satisfaction scale (Beta=0.342, p=0.001) and PHQ-4 scores (Beta=-0.234, p=0.017), while feeling burdened to attend lectures and having been physically affected by the Beirut blast correlated with a sense of PA (Beta=0.332, p=0.010, Beta=0.187, p=0.041 respectively) and PHQ-4 (Beta=0.341, p=0.000), interacting with COVID-19 patients (Beta=0.168, p=0.020) and feeling protected in the working environment (Beta=-.231, p=0.002) showed a significant association with EE. Discussion. Within the SDT framework, this study highlights the complex interplay between collective crises, subjective evaluations or work conditions and other demographics with aspects of burnout in medical residents. It mostly points to the need address this at an individual but also an institutional level to buffer distress in future healthcare providers.
背景。职业倦怠对个人和职业健康及工作表现的威胁与日俱增。然而，人们对职业倦怠与基本心理需求（BPN）之间的关系研究不足，尤其是对住院医师等高危人群。本研究旨在以医疗保健领域的自我决定理论（SDT）为框架，探讨职业倦怠的各个方面（包括人格解体（DP）、情感衰竭（EE）和缺乏个人成就感（PA））与基本心理需求（BPN）的满意度或挫折感（即自主性、相关性和能力）之间的不同关系。研究对象包括黎巴嫩多家医院的 110 名医学住院医师。采用人口统计学和标准化量表来测量基本心理需求满意度和挫折感（BPNSFS）、职业倦怠（MBI）、抑郁和焦虑（PHQ-4）。此外，还询问了住院医师对学术培训的主观评价以及受当前危机（COVID-19 大流行病、贝鲁特港口爆炸和财政崩溃）影响的程度。结果表明，在我们的样本中，职业倦怠和精神痛苦的发生率令人担忧。结果还表明，性别、财务安全和各种职业倦怠之间存在不同的相关性。最后，DP 与总体满意度量表（Beta=0.342，P=0.001）和 PHQ-4 评分（Beta=-0.234，P=0.017）相关，而感到参加讲座的负担和受到贝鲁特爆炸的身体影响与 PA 感相关（Beta=0.332，p=0.010，Beta=0.187，p=0.041）和 PHQ-4（Beta=0.341，p=0.000）相关，与 COVID-19 患者的互动（Beta=0.168，p=0.020）和在工作环境中受到保护的感觉（Beta=-.231，p=0.002）与 EE 有显著相关。在 SDT 框架下，本研究强调了集体危机、主观评价或工作条件以及其他人口统计学因素与住院医师职业倦怠之间复杂的相互作用。它主要指出，需要在个人和机构层面解决这一问题，以减轻未来医疗服务提供者的痛苦。
{"title":"The Relationship Between Self-Determination and Burnout: Mental Health Outcomes in Medical Residents","authors":"Hassan Moubarak, Chadia Haddad, Pascale Saleme, Evelyn Towair, Myriam El Khoury Malhame, Rajaa Chatila","doi":"10.1101/2024.08.02.24311431","DOIUrl":"https://doi.org/10.1101/2024.08.02.24311431","url":null,"abstract":"Background. Burnout is a pervasively increasing threat to personal and professional wellbeing and performance. It is yet understudied in relation to basic psychological needs (BPN), especially in at-risk population such as medical residents. This study intends to explore the differential relationship between various aspects of burnout including depersonalization (DP), emotional exhaustion (EE) and lack of personal achievement (PA) and subsets of BPN satisfaction or frustration namely autonomy, relatedness, and competence, with the framework of the Self-Determination Theory (SDT) in healthcare.\u0000Materials. A total of 110 medical residents in various Lebanese hospitals were included. Demographics and standardized scales were used to measure basic psychological need satisfaction and frustration (BPNSFS), burnout (MBI), depression and anxiety (PHQ-4). Residents were also asked about subjective evaluation of academic training and level of impact by ongoing crises (COVID-19 pandemic, Beirut port explosion and financial breakdown).\u0000Results. Result point to alarming prevalence of burnout and mental distress in our sample. It also indicates a differential correlation between gender, financial security and various subsets of burnout. It lastly points to association of DP with overall satisfaction scale (Beta=0.342, p=0.001) and PHQ-4 scores (Beta=-0.234, p=0.017), while feeling burdened to attend lectures and having been physically affected by the Beirut blast correlated with a sense of PA (Beta=0.332, p=0.010, Beta=0.187, p=0.041 respectively) and PHQ-4 (Beta=0.341, p=0.000), interacting with COVID-19 patients (Beta=0.168, p=0.020) and feeling protected in the working environment (Beta=-.231, p=0.002) showed a significant association with EE.\u0000Discussion. Within the SDT framework, this study highlights the complex interplay between collective crises, subjective evaluations or work conditions and other demographics with aspects of burnout in medical residents. It mostly points to the need address this at an individual but also an institutional level to buffer distress in future healthcare providers.","PeriodicalId":501388,"journal":{"name":"medRxiv - Psychiatry and Clinical Psychology","volume":"45 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141936863","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Systemic inflammation and insomnia often co-occur in patients with depression. However, there is no suitable animal model to investigate the relationship between inflammation, sleep deprivation (SD), and depression. Methods: To model interactions between insomnia, inflammation, and depression, we developed a novel "two-hit" rodent model of depressive-like behaviors using continuous SD followed by daily lipopolysaccharide (LPS) treatment. Control groups received SD, LPS, or sterile phosphate-buffered salinealone. The model's validity was assessed at the cellular and molecular levels, with fluoxetine rescue applied to confirm model validity. Results: The model group demonstrated significant depressive-like behaviors that were rescued by fluoxetine treatment. Transcriptomic analysis revealed alterations in neuroinflammation and synaptic plasticity pathways within the hippocampus and prefrontal cortex (PFC) of model rats. Western blotting validated alterations in key protein markers related to both processes, and immunofluorescence confirmed microglia and astrocyte activation, indicative of neuroinflammation. Additionally, transmission electron microscopy and Golgi-Cox staining revealed reduced synapse and dendritic spine density in the model group. Fluoxetine treatment reversed these structural changes. Sixteen genes associated with neuroinflammation and synaptic function were validated in human genetic studies by transcriptome-wide association analysis. Conclusion: This reliable two-hit model will be useful for investigating the roles of insomnia and inflammation in depression.
{"title":"A novel two-hit insomnia and inflammation rodent model of depressive-like behaviors","authors":"Junhua Mei, Xinhua Song, Ying Wang, Honggang Lyu, Guang Wang, Chao Chen, Honghan Zhang, Chao Wang, Xin-hui Xie, Guohua Chen, Zhongchun Liu","doi":"10.1101/2024.08.01.24311351","DOIUrl":"https://doi.org/10.1101/2024.08.01.24311351","url":null,"abstract":"Background: Systemic inflammation and insomnia often co-occur in patients with depression. However, there is no suitable animal model to investigate the relationship between inflammation, sleep deprivation (SD), and depression. Methods: To model interactions between insomnia, inflammation, and depression, we developed a novel \"two-hit\" rodent model of depressive-like behaviors using continuous SD followed by daily lipopolysaccharide (LPS) treatment. Control groups received SD, LPS, or sterile phosphate-buffered salinealone. The model's validity was assessed at the cellular and molecular levels, with fluoxetine rescue applied to confirm model validity. Results: The model group demonstrated significant depressive-like behaviors that were rescued by fluoxetine treatment. Transcriptomic analysis revealed alterations in neuroinflammation and synaptic plasticity pathways within the hippocampus and prefrontal cortex (PFC) of model rats. Western blotting validated alterations in key protein markers related to both processes, and immunofluorescence confirmed microglia and astrocyte activation, indicative of neuroinflammation. Additionally, transmission electron microscopy and Golgi-Cox staining revealed reduced synapse and dendritic spine density in the model group. Fluoxetine treatment reversed these structural changes. Sixteen genes associated with neuroinflammation and synaptic function were validated in human genetic studies by transcriptome-wide association analysis.\u0000Conclusion: This reliable two-hit model will be useful for investigating the roles of insomnia and inflammation in depression.","PeriodicalId":501388,"journal":{"name":"medRxiv - Psychiatry and Clinical Psychology","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141882494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-02DOI: 10.1101/2024.07.31.24311279
Xinhe Zhang, Jakob Grove, Yuanjun Gu, Cornelia K Buus, Lea K Nielsen, Sharon A.S. Neufeld, Mahmoud Koko, Daniel S Malawsky, Emma Wade, Ellen Verhoef, Anna Gui, Laura Hegemann, APEX consortium, iPSYCH Autism Consortium, PGC-PTSD Consortium, Daniel H Geschwind, Naomi Wray, Alexandra Havdahl, Angelica Ronald, Beate St Pourcain, Elise B Robinson, Thomas Bourgeron, Simon Baron-Cohen, Anders D Borglum, Hilary C Martin, Varun Warrier
There is growing recognition that earliest signs of autism need not clearly manifest in the first three years of life. To what extent is this variation in developmental trajectories associated with age at autism diagnosis? Does the genetic profile of autism vary with age at autism diagnosis? Using longitudinal data from four birth cohorts, we demonstrate that two different trajectories of socio-emotional behaviours are associated with age at diagnosis. We further demonstrate that the age at autism diagnosis is partly heritable (h2SNP = 0.12, s.e.m = 0.01), and is associated with two moderately correlated (rg = 0.38, s.e.m = 0.07) autism polygenic factors. One of these factors is associated with earlier diagnosis of autism, lower social and communication abilities in early childhood. The second factor is associated with later autism diagnosis, increased socio-emotional difficulties in adolescence, and has moderate to high positive genetic correlations with Attention-Deficit/Hyperactivity Disorder, mental health conditions, and trauma. Overall, our research identifies an axis of heterogeneity in autism, indexed by age at diagnosis, which partly explains heterogeneity in autism and the profiles of co-occurring neurodevelopmental and mental health profiles. Our findings have important implications for how we conceptualise autism and provide one model to explain some of the diversity within autism.
{"title":"An axis of genetic heterogeneity in autism is indexed by age at diagnosis and is associated with varying developmental and mental health profiles","authors":"Xinhe Zhang, Jakob Grove, Yuanjun Gu, Cornelia K Buus, Lea K Nielsen, Sharon A.S. Neufeld, Mahmoud Koko, Daniel S Malawsky, Emma Wade, Ellen Verhoef, Anna Gui, Laura Hegemann, APEX consortium, iPSYCH Autism Consortium, PGC-PTSD Consortium, Daniel H Geschwind, Naomi Wray, Alexandra Havdahl, Angelica Ronald, Beate St Pourcain, Elise B Robinson, Thomas Bourgeron, Simon Baron-Cohen, Anders D Borglum, Hilary C Martin, Varun Warrier","doi":"10.1101/2024.07.31.24311279","DOIUrl":"https://doi.org/10.1101/2024.07.31.24311279","url":null,"abstract":"There is growing recognition that earliest signs of autism need not clearly manifest in the first three years of life. To what extent is this variation in developmental trajectories associated with age at autism diagnosis? Does the genetic profile of autism vary with age at autism diagnosis? Using longitudinal data from four birth cohorts, we demonstrate that two different trajectories of socio-emotional behaviours are associated with age at diagnosis. We further demonstrate that the age at autism diagnosis is partly heritable (h2SNP = 0.12, s.e.m = 0.01), and is associated with two moderately correlated (rg = 0.38, s.e.m = 0.07) autism polygenic factors. One of these factors is associated with earlier diagnosis of autism, lower social and communication abilities in early childhood. The second factor is associated with later autism diagnosis, increased socio-emotional difficulties in adolescence, and has moderate to high positive genetic correlations with Attention-Deficit/Hyperactivity Disorder, mental health conditions, and trauma. Overall, our research identifies an axis of heterogeneity in autism, indexed by age at diagnosis, which partly explains heterogeneity in autism and the profiles of co-occurring neurodevelopmental and mental health profiles. Our findings have important implications for how we conceptualise autism and provide one model to explain some of the diversity within autism.","PeriodicalId":501388,"journal":{"name":"medRxiv - Psychiatry and Clinical Psychology","volume":"19 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141882491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-02DOI: 10.1101/2024.07.30.24311218
Sarah Mary Carlton Colbert, Lauren Lepow, Brian Fennessy, Nakao Iwata, Masashi Ikeda, Takeo Saito, Chikashi Terao, Michael Preuss, Jyotishman Pathak, J. John Mann, Hilary Coon, Niamh Mullins
Suicidal ideation (SI) and behavior (SB) are major public health concerns, but risk factors for their development and progression are poorly understood. We used ICD codes and a natural language processing algorithm to identify individuals in a hospital biobank with SI-only, SB, and controls without either. We compared the profiles of SB and SI-only patients to controls, and each other, using phenome-wide association studies (PheWAS) and polygenic risk scores (PRS). PheWAS identified many risk factors for SB and SI-only, plus specific psychiatric disorders which may be involved in progression from SI-only to SB. PRS for suicide attempt were only associated with SB, and even after accounting for psychiatric disorder PRS. SI PRS were only associated with SI-only, although not after accounting for psychiatric disorder PRS. These findings advance understanding of distinct genetic and clinical risk factors for SB and SI-only, which will aid in early detection and intervention efforts.
自杀意念（SI）和自杀行为（SB）是主要的公共卫生问题，但人们对其发生和发展的风险因素却知之甚少。我们使用 ICD 编码和自然语言处理算法，在医院生物库中识别出仅有 SI、SB 的患者，以及没有这两种情况的对照组。我们利用表型全关联研究（PheWAS）和多基因风险评分（PRS）比较了单纯膀胱结石和单纯膀胱结石患者与对照组以及对照组与对照组之间的特征。PheWAS 发现了许多导致 SB 和单纯 SI 的风险因素，以及可能与单纯 SI 发展为 SB 有关的特定精神疾病。自杀未遂的 PRS 仅与 SB 相关，即使考虑了精神障碍的 PRS 也是如此。SI PRS 只与纯 SI 相关，但在考虑精神障碍 PRS 后则不相关。这些发现加深了人们对 SB 和纯 SI 的不同遗传和临床风险因素的了解，这将有助于早期检测和干预工作。
{"title":"Distinguishing clinical and genetic risk factors for suicidal ideation and behavior in a diverse hospital population","authors":"Sarah Mary Carlton Colbert, Lauren Lepow, Brian Fennessy, Nakao Iwata, Masashi Ikeda, Takeo Saito, Chikashi Terao, Michael Preuss, Jyotishman Pathak, J. John Mann, Hilary Coon, Niamh Mullins","doi":"10.1101/2024.07.30.24311218","DOIUrl":"https://doi.org/10.1101/2024.07.30.24311218","url":null,"abstract":"Suicidal ideation (SI) and behavior (SB) are major public health concerns, but risk factors for their development and progression are poorly understood. We used ICD codes and a natural language processing algorithm to identify individuals in a hospital biobank with SI-only, SB, and controls without either. We compared the profiles of SB and SI-only patients to controls, and each other, using phenome-wide association studies (PheWAS) and polygenic risk scores (PRS). PheWAS identified many risk factors for SB and SI-only, plus specific psychiatric disorders which may be involved in progression from SI-only to SB. PRS for suicide attempt were only associated with SB, and even after accounting for psychiatric disorder PRS. SI PRS were only associated with SI-only, although not after accounting for psychiatric disorder PRS. These findings advance understanding of distinct genetic and clinical risk factors for SB and SI-only, which will aid in early detection and intervention efforts.","PeriodicalId":501388,"journal":{"name":"medRxiv - Psychiatry and Clinical Psychology","volume":"56 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141882492","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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