Pub Date : 2024-11-25DOI: 10.1038/s44220-024-00351-w
Isaac Fradkin, Rick A. Adams, Noam Siegelman, Rani Moran, Raymond J. Dolan
Comprehensible communication is critical for social functioning and well-being. In psychopathology, incoherent discourse is assumed to reflect disorganized thinking, which is classically linked to psychotic disorders. However, people do not express everything that comes to mind, rendering inferences from discourse to the underlying structure of thought challenging. Indeed, a range of psychopathologies are linked to self-reported disorganized thinking in the absence of language output incoherence. Here we combine natural language processing and computational modeling of free association to detail the relationship between disorganized thinking and language (in)coherence in a large sample of participants varying across different dimensions of psychopathology. Our approach allowed us to differentiate between disorganized thinking, disinhibited thought expression and deliberate creativity. We find evidence for both under-regulated and over-regulated disorganized thinking, which relate to two specific dimensions of psychopathology: self-reported eccentricity and suspiciousness. Broadly, these results underscore the theoretical progress afforded by analyzing latent dimensions underlying behavior and psychopathology. Using natural language processing and computational modeling, this study finds distinctions among disorganized thinking, disinhibition through expression and deliberate creativity, which are differentially associated with eccentricity and suspiciousness dimensions of psychopathology.
{"title":"Latent mechanisms of language disorganization relate to specific dimensions of psychopathology","authors":"Isaac Fradkin, Rick A. Adams, Noam Siegelman, Rani Moran, Raymond J. Dolan","doi":"10.1038/s44220-024-00351-w","DOIUrl":"10.1038/s44220-024-00351-w","url":null,"abstract":"Comprehensible communication is critical for social functioning and well-being. In psychopathology, incoherent discourse is assumed to reflect disorganized thinking, which is classically linked to psychotic disorders. However, people do not express everything that comes to mind, rendering inferences from discourse to the underlying structure of thought challenging. Indeed, a range of psychopathologies are linked to self-reported disorganized thinking in the absence of language output incoherence. Here we combine natural language processing and computational modeling of free association to detail the relationship between disorganized thinking and language (in)coherence in a large sample of participants varying across different dimensions of psychopathology. Our approach allowed us to differentiate between disorganized thinking, disinhibited thought expression and deliberate creativity. We find evidence for both under-regulated and over-regulated disorganized thinking, which relate to two specific dimensions of psychopathology: self-reported eccentricity and suspiciousness. Broadly, these results underscore the theoretical progress afforded by analyzing latent dimensions underlying behavior and psychopathology. Using natural language processing and computational modeling, this study finds distinctions among disorganized thinking, disinhibition through expression and deliberate creativity, which are differentially associated with eccentricity and suspiciousness dimensions of psychopathology.","PeriodicalId":74247,"journal":{"name":"Nature mental health","volume":"2 12","pages":"1486-1497"},"PeriodicalIF":0.0,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s44220-024-00351-w.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142778613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-21DOI: 10.1038/s44220-024-00341-y
Spencer Kinsey, Katarzyna Kazimierczak, Pablo Andrés Camazón, Jiayu Chen, Tülay Adali, Peter Kochunov, Bhim M. Adhikari, Judith Ford, Theo G. M. van Erp, Mukesh Dhamala, Vince D. Calhoun, Armin Iraji
Schizophrenia is a chronic brain disorder associated with widespread alterations in functional brain connectivity. Although data-driven approaches such as independent component analysis are often used to study how schizophrenia impacts linearly connected networks, alterations within the underlying nonlinear functional connectivity structure remain largely unknown. Here we report the analysis of networks from explicitly nonlinear functional magnetic resonance imaging connectivity in a case–control dataset. We found systematic spatial variation, with higher nonlinear weight within core regions, suggesting that linear analyses underestimate functional connectivity within network centers. We also found that a unique nonlinear network incorporating default-mode, cingulo-opercular and central executive regions exhibits hypoconnectivity in schizophrenia, indicating that typically hidden connectivity patterns may reflect inefficient network integration in psychosis. Moreover, nonlinear networks including those previously implicated in auditory, linguistic and self-referential cognition exhibit heightened statistical sensitivity to schizophrenia diagnosis, collectively underscoring the potential of our methodology to resolve complex brain phenomena and transform clinical connectivity analysis. Analysis of neuroimaging data of people with schizophrenia and healthy controls shows that networks derived from explicitly nonlinear whole-brain functional connectivity exhibit higher reliability than those extracted from linear whole-brain functional connectivity and demonstrate higher sensitivity to the diagnosis of schizophrenia.
{"title":"Networks extracted from nonlinear fMRI connectivity exhibit unique spatial variation and enhanced sensitivity to differences between individuals with schizophrenia and controls","authors":"Spencer Kinsey, Katarzyna Kazimierczak, Pablo Andrés Camazón, Jiayu Chen, Tülay Adali, Peter Kochunov, Bhim M. Adhikari, Judith Ford, Theo G. M. van Erp, Mukesh Dhamala, Vince D. Calhoun, Armin Iraji","doi":"10.1038/s44220-024-00341-y","DOIUrl":"10.1038/s44220-024-00341-y","url":null,"abstract":"Schizophrenia is a chronic brain disorder associated with widespread alterations in functional brain connectivity. Although data-driven approaches such as independent component analysis are often used to study how schizophrenia impacts linearly connected networks, alterations within the underlying nonlinear functional connectivity structure remain largely unknown. Here we report the analysis of networks from explicitly nonlinear functional magnetic resonance imaging connectivity in a case–control dataset. We found systematic spatial variation, with higher nonlinear weight within core regions, suggesting that linear analyses underestimate functional connectivity within network centers. We also found that a unique nonlinear network incorporating default-mode, cingulo-opercular and central executive regions exhibits hypoconnectivity in schizophrenia, indicating that typically hidden connectivity patterns may reflect inefficient network integration in psychosis. Moreover, nonlinear networks including those previously implicated in auditory, linguistic and self-referential cognition exhibit heightened statistical sensitivity to schizophrenia diagnosis, collectively underscoring the potential of our methodology to resolve complex brain phenomena and transform clinical connectivity analysis. Analysis of neuroimaging data of people with schizophrenia and healthy controls shows that networks derived from explicitly nonlinear whole-brain functional connectivity exhibit higher reliability than those extracted from linear whole-brain functional connectivity and demonstrate higher sensitivity to the diagnosis of schizophrenia.","PeriodicalId":74247,"journal":{"name":"Nature mental health","volume":"2 12","pages":"1464-1475"},"PeriodicalIF":0.0,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s44220-024-00341-y.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142778659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-18DOI: 10.1038/s44220-024-00358-3
Omnia El Omrani, Nienke Meinsma, Alessandro Massazza, Arthur Wyns, Ana Mejia, Kim Robin van Daalen, Emma L. Lawrance
Increasing evidence shows how climate change is impacting mental health by increasing the risk of new mental health challenges, exacerbating existing ones and increasing the vulnerability of people living with mental health challenges to morbidity and mortality. Conversely, efforts to mitigate and adapt to climate change offer opportunities to strengthen the conditions for mental health and wellbeing. Thus, climate policies should consider the far-reaching impacts of climate change on mental health and the mental health benefits of climate action. Until recently, mental health was largely absent from high-level climate policy discourse. This is changing; the 28th United Nations Climate Conference hosted the first-ever Health Day, and mental health was integrated into the Climate and Health Declaration adopted by 151 countries. This paper discusses the relevance of multilateral climate processes to mental health and the mental health community’s role in ensuring that both mental and physical health are considered across all relevant climate negotiation streams. In this Perspective, the authors detail some of the ways that mental health has been incorporated in high-level climate policy discussions and explore how the prominence of mental health could be promoted in climate agendas.
{"title":"The need and opportunities for mental health integration into global climate negotiations","authors":"Omnia El Omrani, Nienke Meinsma, Alessandro Massazza, Arthur Wyns, Ana Mejia, Kim Robin van Daalen, Emma L. Lawrance","doi":"10.1038/s44220-024-00358-3","DOIUrl":"10.1038/s44220-024-00358-3","url":null,"abstract":"Increasing evidence shows how climate change is impacting mental health by increasing the risk of new mental health challenges, exacerbating existing ones and increasing the vulnerability of people living with mental health challenges to morbidity and mortality. Conversely, efforts to mitigate and adapt to climate change offer opportunities to strengthen the conditions for mental health and wellbeing. Thus, climate policies should consider the far-reaching impacts of climate change on mental health and the mental health benefits of climate action. Until recently, mental health was largely absent from high-level climate policy discourse. This is changing; the 28th United Nations Climate Conference hosted the first-ever Health Day, and mental health was integrated into the Climate and Health Declaration adopted by 151 countries. This paper discusses the relevance of multilateral climate processes to mental health and the mental health community’s role in ensuring that both mental and physical health are considered across all relevant climate negotiation streams. In this Perspective, the authors detail some of the ways that mental health has been incorporated in high-level climate policy discussions and explore how the prominence of mental health could be promoted in climate agendas.","PeriodicalId":74247,"journal":{"name":"Nature mental health","volume":"2 12","pages":"1435-1441"},"PeriodicalIF":0.0,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s44220-024-00358-3.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142778674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-18DOI: 10.1038/s44220-024-00334-x
Hamed Ekhtiari, Arshiya Sangchooli, Owen Carmichael, F. Gerard Moeller, Patricio O’Donnell, Maria A. Oquendo, Martin P. Paulus, Diego A. Pizzagalli, Tatiana Ramey, Joseph P. Schacht, Mehran Zare-Bidoky, Anna Rose Childress, Kathleen Brady
As a neurobiological process, addiction involves pathological patterns of engagement with substances and a range of behaviors with a chronic and relapsing course. Neuroimaging technologies assess brain activity, structure, physiology, and metabolism at scales ranging from neurotransmitter receptors to large-scale brain networks, providing unique windows into the core neural processes implicated in substance use disorders. Identified aberrations in the neural substrates of reward and salience processing, response inhibition, interoception, and executive functions with neuroimaging can inform the development of pharmacological, neuromodulatory, and psychotherapeutic interventions to modulate the disordered neurobiology. Closed- or open-loop interventions can integrate these biomarkers with neuromodulation in real time or offline to personalize stimulation parameters and deliver precise intervention. This Analysis provides an overview of neuroimaging modalities in addiction medicine, potential neuroimaging biomarkers, and their physiologic and clinical relevance. Future directions and challenges in bringing these putative biomarkers from the bench to the bedside are also discussed. In this Analysis, the authors survey protocols involving fMRI, PET, EEG, and MRS to identify potential biomarkers that may be associated with vulnerability, treatment response, and recovery and that may present future interventional targets.
{"title":"Neuroimaging biomarkers of addiction","authors":"Hamed Ekhtiari, Arshiya Sangchooli, Owen Carmichael, F. Gerard Moeller, Patricio O’Donnell, Maria A. Oquendo, Martin P. Paulus, Diego A. Pizzagalli, Tatiana Ramey, Joseph P. Schacht, Mehran Zare-Bidoky, Anna Rose Childress, Kathleen Brady","doi":"10.1038/s44220-024-00334-x","DOIUrl":"10.1038/s44220-024-00334-x","url":null,"abstract":"As a neurobiological process, addiction involves pathological patterns of engagement with substances and a range of behaviors with a chronic and relapsing course. Neuroimaging technologies assess brain activity, structure, physiology, and metabolism at scales ranging from neurotransmitter receptors to large-scale brain networks, providing unique windows into the core neural processes implicated in substance use disorders. Identified aberrations in the neural substrates of reward and salience processing, response inhibition, interoception, and executive functions with neuroimaging can inform the development of pharmacological, neuromodulatory, and psychotherapeutic interventions to modulate the disordered neurobiology. Closed- or open-loop interventions can integrate these biomarkers with neuromodulation in real time or offline to personalize stimulation parameters and deliver precise intervention. This Analysis provides an overview of neuroimaging modalities in addiction medicine, potential neuroimaging biomarkers, and their physiologic and clinical relevance. Future directions and challenges in bringing these putative biomarkers from the bench to the bedside are also discussed. In this Analysis, the authors survey protocols involving fMRI, PET, EEG, and MRS to identify potential biomarkers that may be associated with vulnerability, treatment response, and recovery and that may present future interventional targets.","PeriodicalId":74247,"journal":{"name":"Nature mental health","volume":"2 12","pages":"1498-1517"},"PeriodicalIF":0.0,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142778559","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 : 2024-11-14DOI: 10.1038/s44220-024-00342-x
Naomi Thompson, Helen Odell-Miller, Benjamin R. Underwood, Emma Wolverson, Ming-Hung Hsu
People with advanced dementia are at increased risk of institutionalization and experiencing distress. Research suggests that music therapy could reduce distress, but less is known about the causal mechanisms. Here we conducted a realist review to develop a program theory for how music therapy may reduce distress and improve well-being for people with advanced dementia in institutional settings. Initially, data were extracted from key literature alongside secondary reflexive thematic analysis of semi-structured interviews and stakeholder consultation. Subsequently, systematic literature searches were conducted along with a stakeholder survey. Data were extracted to iteratively refine the rough theory. Finally, the program theory was presented to stakeholder groups for consolidation. The theory outlines the core elements of the music therapy intervention alongside the individual, interpersonal and institutional contexts required to instigate hidden mechanisms, including meeting the unmeet needs of the person with dementia in the moment and increasing communication and understanding of music therapy among staff and family members. Outcomes include short-term reductions in distress and improved well-being, with the potential for music to become embedded in the management of distress and regulation of the care environment within the institution. Insufficient data were found to theorize infrastructural factors impacting the use of music therapy with this population. This theory should be tested through empirical research and used to inform clinical practice and policy. This realist review shows that music therapy interventions must meet a person’s needs in the moment and be supported and integrated within the wider care environment to reduce distress and improve well-being for people with advanced dementia.
{"title":"How and why music therapy reduces distress and improves well-being in advanced dementia care: a realist review","authors":"Naomi Thompson, Helen Odell-Miller, Benjamin R. Underwood, Emma Wolverson, Ming-Hung Hsu","doi":"10.1038/s44220-024-00342-x","DOIUrl":"10.1038/s44220-024-00342-x","url":null,"abstract":"People with advanced dementia are at increased risk of institutionalization and experiencing distress. Research suggests that music therapy could reduce distress, but less is known about the causal mechanisms. Here we conducted a realist review to develop a program theory for how music therapy may reduce distress and improve well-being for people with advanced dementia in institutional settings. Initially, data were extracted from key literature alongside secondary reflexive thematic analysis of semi-structured interviews and stakeholder consultation. Subsequently, systematic literature searches were conducted along with a stakeholder survey. Data were extracted to iteratively refine the rough theory. Finally, the program theory was presented to stakeholder groups for consolidation. The theory outlines the core elements of the music therapy intervention alongside the individual, interpersonal and institutional contexts required to instigate hidden mechanisms, including meeting the unmeet needs of the person with dementia in the moment and increasing communication and understanding of music therapy among staff and family members. Outcomes include short-term reductions in distress and improved well-being, with the potential for music to become embedded in the management of distress and regulation of the care environment within the institution. Insufficient data were found to theorize infrastructural factors impacting the use of music therapy with this population. This theory should be tested through empirical research and used to inform clinical practice and policy. This realist review shows that music therapy interventions must meet a person’s needs in the moment and be supported and integrated within the wider care environment to reduce distress and improve well-being for people with advanced dementia.","PeriodicalId":74247,"journal":{"name":"Nature mental health","volume":"2 12","pages":"1532-1542"},"PeriodicalIF":0.0,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s44220-024-00342-x.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142778612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-12DOI: 10.1038/s44220-024-00366-3
Jeggan Tiego, Elizabeth A. Martin, Colin G. DeYoung, Kelsey Hagan, Samuel E. Cooper, Rita Pasion, Liam Satchell, Alexander J. Shackman, Mark A. Bellgrove, Alex Fornito, the HiTOP Neurobiological Foundations Work Group
{"title":"Author Correction: Precision behavioral phenotyping as a strategy for uncovering the biological correlates of psychopathology","authors":"Jeggan Tiego, Elizabeth A. Martin, Colin G. DeYoung, Kelsey Hagan, Samuel E. Cooper, Rita Pasion, Liam Satchell, Alexander J. Shackman, Mark A. Bellgrove, Alex Fornito, the HiTOP Neurobiological Foundations Work Group","doi":"10.1038/s44220-024-00366-3","DOIUrl":"10.1038/s44220-024-00366-3","url":null,"abstract":"","PeriodicalId":74247,"journal":{"name":"Nature mental health","volume":"2 12","pages":"1544-1544"},"PeriodicalIF":0.0,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s44220-024-00366-3.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142778645","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-06DOI: 10.1038/s44220-024-00363-6
The dramatic increase in refugees and people who have been displaced by climate-driven natural disasters, as well as by political unrest and conflict, requires broad rethinking about how aid is provided. In addition to covering basic physical needs, the mental health needs of refugees must also be considered.
{"title":"Improving refugee mental health through resilience and research","authors":"","doi":"10.1038/s44220-024-00363-6","DOIUrl":"10.1038/s44220-024-00363-6","url":null,"abstract":"The dramatic increase in refugees and people who have been displaced by climate-driven natural disasters, as well as by political unrest and conflict, requires broad rethinking about how aid is provided. In addition to covering basic physical needs, the mental health needs of refugees must also be considered.","PeriodicalId":74247,"journal":{"name":"Nature mental health","volume":"2 11","pages":"1263-1264"},"PeriodicalIF":0.0,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.nature.com/articles/s44220-024-00363-6.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142595753","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-01DOI: 10.1038/s44220-024-00347-6
Adam Turnbull, Michelle C. Odden, Christine E. Gould, Ehsan Adeli, Robert M. Kaplan, Feng Vankee Lin
If designed with health equity in mind, digital non-pharmacological interventions (NPIs) represent a cost-effective, scalable means of reducing health disparities associated with age-related mental health disorders in older adults in the USA. However, disparities in technological access, literacy and effectiveness can limit the impact of these interventions in older adults from disadvantaged groups. We present a health-equity-promoting framework for the development of digital NPIs for age-related mental health disorders and provide an example from the literature that highlights how interventions can be targeted at specific groups to increase technological access, literacy and effectiveness to ensure that these interventions can meet their potential of reducing health disparities. Presenting a health-equity-promoting framework, this Perspective argues for considering access to technology, health literacy and effectiveness in digital non-pharmacological interventions for older adults.
{"title":"A health-equity framework for tailoring digital non-pharmacological interventions in aging","authors":"Adam Turnbull, Michelle C. Odden, Christine E. Gould, Ehsan Adeli, Robert M. Kaplan, Feng Vankee Lin","doi":"10.1038/s44220-024-00347-6","DOIUrl":"10.1038/s44220-024-00347-6","url":null,"abstract":"If designed with health equity in mind, digital non-pharmacological interventions (NPIs) represent a cost-effective, scalable means of reducing health disparities associated with age-related mental health disorders in older adults in the USA. However, disparities in technological access, literacy and effectiveness can limit the impact of these interventions in older adults from disadvantaged groups. We present a health-equity-promoting framework for the development of digital NPIs for age-related mental health disorders and provide an example from the literature that highlights how interventions can be targeted at specific groups to increase technological access, literacy and effectiveness to ensure that these interventions can meet their potential of reducing health disparities. Presenting a health-equity-promoting framework, this Perspective argues for considering access to technology, health literacy and effectiveness in digital non-pharmacological interventions for older adults.","PeriodicalId":74247,"journal":{"name":"Nature mental health","volume":"2 11","pages":"1277-1284"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142595729","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 : 2024-11-01DOI: 10.1038/s44220-024-00322-1
Charlotte Fraza, Ida E. Sønderby, Rune Boen, Yingjie Shi, Christian F. Beckmann, Andre F. Marquand
Copy number variations (CNVs) are genetic variants that can have a substantial influence on neurodevelopment, neuropsychiatric traits and morphometric brain changes, yet their impact at the individual level remains unknown. Common case–control approaches for analyzing CNVs suffer from limitations; they are unable to inform on individual variation between carriers and preclude the study of rarer variants due to their limited sample size. Here we aim to map individualized brain deviation scores in individuals with pathogenic CNVs. We used normative modeling to map neuroimaging features from several large neuroimaging datasets and applied these models to understand the neurobiological profile of CNV carriers in the UK Biobank cohort. We highlight the 1q21.1 distal deletion and duplication, as an example of our individual-level normative modeling–CNV approach. Next, we count the number of extreme deviations for each participant from the mean and centiles of variation from population reference norms, giving us a combined risk score per participant per imaging modality. We show a high degree of heterogeneity between pathogenic CNV carriers in their implicated brain regions. For example, the cerebellum, brainstem and pallidum show large negative deviations for specific 1q21.1 duplication carriers. For certain 1q21.1 deletion CNV carriers, the caudate and accumbens show notable positive deviations. Finally, we show that negative deviations from these models are correlated to cognitive function. This study marks a starting point in understanding the impact of pathogenic CNVs on brain phenotypes, underscoring the intricacies of these genetic variations at the individual level and providing a means to study the effects of rare CNVs in carrier individuals. Using normative modeling and focusing on individual differences, the authors explore the link between copy number variations, brain structure and cognitive abilities.
{"title":"Unraveling the link between CNVs, cognition and individual neuroimaging deviation scores from a population-based reference cohort","authors":"Charlotte Fraza, Ida E. Sønderby, Rune Boen, Yingjie Shi, Christian F. Beckmann, Andre F. Marquand","doi":"10.1038/s44220-024-00322-1","DOIUrl":"10.1038/s44220-024-00322-1","url":null,"abstract":"Copy number variations (CNVs) are genetic variants that can have a substantial influence on neurodevelopment, neuropsychiatric traits and morphometric brain changes, yet their impact at the individual level remains unknown. Common case–control approaches for analyzing CNVs suffer from limitations; they are unable to inform on individual variation between carriers and preclude the study of rarer variants due to their limited sample size. Here we aim to map individualized brain deviation scores in individuals with pathogenic CNVs. We used normative modeling to map neuroimaging features from several large neuroimaging datasets and applied these models to understand the neurobiological profile of CNV carriers in the UK Biobank cohort. We highlight the 1q21.1 distal deletion and duplication, as an example of our individual-level normative modeling–CNV approach. Next, we count the number of extreme deviations for each participant from the mean and centiles of variation from population reference norms, giving us a combined risk score per participant per imaging modality. We show a high degree of heterogeneity between pathogenic CNV carriers in their implicated brain regions. For example, the cerebellum, brainstem and pallidum show large negative deviations for specific 1q21.1 duplication carriers. For certain 1q21.1 deletion CNV carriers, the caudate and accumbens show notable positive deviations. Finally, we show that negative deviations from these models are correlated to cognitive function. This study marks a starting point in understanding the impact of pathogenic CNVs on brain phenotypes, underscoring the intricacies of these genetic variations at the individual level and providing a means to study the effects of rare CNVs in carrier individuals. Using normative modeling and focusing on individual differences, the authors explore the link between copy number variations, brain structure and cognitive abilities.","PeriodicalId":74247,"journal":{"name":"Nature mental health","volume":"2 12","pages":"1451-1463"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142778663","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 : 2024-11-01DOI: 10.1038/s44220-024-00337-8
Paola Buedo, Timothy Daly
Respect for autonomy is foundational to all types of clinical care, and receiving mental health care places people in a vulnerable situation that has a direct impact on their ability to live as they choose, making concerns about autonomy central. The classical understanding of personal autonomy, which still influences medical guidelines, is based on an individualistic framework and is inadequate for ethical mental health care. The goal of this Comment is to articulate why the relational autonomy model, developed in feminist bioethics, is a necessary approach for the mental health field.
{"title":"Strengthening autonomy in mental health care through a relational approach","authors":"Paola Buedo, Timothy Daly","doi":"10.1038/s44220-024-00337-8","DOIUrl":"10.1038/s44220-024-00337-8","url":null,"abstract":"Respect for autonomy is foundational to all types of clinical care, and receiving mental health care places people in a vulnerable situation that has a direct impact on their ability to live as they choose, making concerns about autonomy central. The classical understanding of personal autonomy, which still influences medical guidelines, is based on an individualistic framework and is inadequate for ethical mental health care. The goal of this Comment is to articulate why the relational autonomy model, developed in feminist bioethics, is a necessary approach for the mental health field.","PeriodicalId":74247,"journal":{"name":"Nature mental health","volume":"2 11","pages":"1271-1272"},"PeriodicalIF":0.0,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142595755","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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