Sarah Livermon, Audrey Michel, Yiyang Zhang, Kaitlyn Petz, Emma Toner, Mark Rucker, Mehdi Boukhechba, Laura E. Barnes, Bethany A. Teachman
{"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}
Jack Nejand, Margherita Malanchini, Ivan Voronin, Thalia Eley, Kaili Rimfeld
{"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}
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
{"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}
Shu-xian Xu, Honggang Lyu, Mian-mian Chen, Kun Li, Lihua Yao, Xin-hui Xie, Zhongchun Liu
{"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}
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
{"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}
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
{"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}
Hassan Moubarak, Chadia Haddad, Pascale Saleme, Evelyn Towair, Myriam El Khoury Malhame, Rajaa Chatila
{"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}
{"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}
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
{"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}
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
{"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}