Biological Psychiatry-Cognitive Neuroscience and Neuroimaging最新文献

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Structural Brain Differences in the Alzheimer’s Disease Continuum: Insights Into the Heterogeneity From a Large Multisite Neuroimaging Consortium 阿尔茨海默氏症连续症的大脑结构差异:从大型多站点神经成像联盟中洞察异质性。
IF 4.8 2区 医学
Biological Psychiatry-Cognitive Neuroscience and Neuroimaging Pub Date : 2025-10-01 DOI: 10.1016/j.bpsc.2024.07.019
Tavia E. Evans , Natalia Vilor-Tejedor , Gregory Operto , Carles Falcon , Albert Hofman , Agustin Ibáñez , Sudha Seshadari , Louis C.S. Tan , Michael Weiner , Suverna Alladi , Udunna Anazodo , Juan Domingo Gispert , Alzheimer’s Disease Neuroimaging Initiative, Australian Imaging Biomarkers and Lifestyle flagship study of ageing, Hieab H.H. Adams
{"title":"Structural Brain Differences in the Alzheimer’s Disease Continuum: Insights Into the Heterogeneity From a Large Multisite Neuroimaging Consortium","authors":"Tavia E. Evans ,&nbsp;Natalia Vilor-Tejedor ,&nbsp;Gregory Operto ,&nbsp;Carles Falcon ,&nbsp;Albert Hofman ,&nbsp;Agustin Ibáñez ,&nbsp;Sudha Seshadari ,&nbsp;Louis C.S. Tan ,&nbsp;Michael Weiner ,&nbsp;Suverna Alladi ,&nbsp;Udunna Anazodo ,&nbsp;Juan Domingo Gispert ,&nbsp;Alzheimer’s Disease Neuroimaging Initiative,&nbsp;Australian Imaging Biomarkers and Lifestyle flagship study of ageing,&nbsp;Hieab H.H. Adams","doi":"10.1016/j.bpsc.2024.07.019","DOIUrl":"10.1016/j.bpsc.2024.07.019","url":null,"abstract":"<div><h3>Background</h3><div>Neurodegenerative diseases require collaborative, multisite research to comprehensively grasp their complex and diverse pathological progression; however, there is caution in aggregating global data due to data heterogeneity. In the current study, we investigated brain structure across stages of Alzheimer’s disease (AD) and how relationships vary across sources of heterogeneity.</div></div><div><h3>Methods</h3><div>Using 6 international datasets (<em>N</em> &gt; 27,000), associations of structural neuroimaging markers were investigated in relation to the AD continuum via meta-analysis. We investigated whether associations varied across elements of magnetic resonance imaging acquisition, study design, and populations.</div></div><div><h3>Results</h3><div>Modest differences in associations were found depending on how data were acquired; however, patterns were similar. Preliminary results suggested that neuroimaging marker–AD relationships differ across ethnic groups.</div></div><div><h3>Conclusions</h3><div>Diversity in data offers unique insights into the neural substrate of AD; however, harmonized processing and transparency of data collection are needed. Global collaborations should embrace the inherent heterogeneity that exists in the data and quantify its contribution to research findings at the meta-analytical stage.</div></div>","PeriodicalId":54231,"journal":{"name":"Biological Psychiatry-Cognitive Neuroscience and Neuroimaging","volume":"10 10","pages":"Pages 1025-1036"},"PeriodicalIF":4.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141861917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Beyond the Surface: Deep Transcranial Magnetic Stimulation Efficacy in Reducing Craving in Addictive Disorders: A Systematic Review and Meta-Analysis 表面之外:深度经颅磁刺激在减少成瘾障碍的渴望中的功效。系统回顾和荟萃分析。
IF 4.8 2区 医学
Biological Psychiatry-Cognitive Neuroscience and Neuroimaging Pub Date : 2025-10-01 DOI: 10.1016/j.bpsc.2025.03.012
Lilia Del Mauro , Alessandra Vergallito , Francantonio Devoto , Gaia Locatelli , Gabriel Hassan , Leonor Josefina Romero Lauro
{"title":"Beyond the Surface: Deep Transcranial Magnetic Stimulation Efficacy in Reducing Craving in Addictive Disorders: A Systematic Review and Meta-Analysis","authors":"Lilia Del Mauro ,&nbsp;Alessandra Vergallito ,&nbsp;Francantonio Devoto ,&nbsp;Gaia Locatelli ,&nbsp;Gabriel Hassan ,&nbsp;Leonor Josefina Romero Lauro","doi":"10.1016/j.bpsc.2025.03.012","DOIUrl":"10.1016/j.bpsc.2025.03.012","url":null,"abstract":"<div><h3>Background</h3><div>Substance use disorders (SUDs) and gambling disorder (GD) are addictive diseases with a chronic course. Due to the limited efficacy of conventional treatments, there is growing interest in alternative approaches that target the altered neural circuits underlying these disorders. Deep transcranial magnetic stimulation (dTMS) has emerged as a promising neuromodulation technique capable of reaching deep and bilateral brain regions. However, no definite recommendation for its use in addiction treatment exists. In this study, we systematically reviewed and quantitatively analyzed dTMS effects in SUDs and GD.</div></div><div><h3>Methods</h3><div>Following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, we screened 4 electronic databases up to February 2024 and selected relevant original English-language research articles. Seventeen articles were included in the systematic review and 12 in the meta-analysis. Because only a minority of studies used a sham-controlled design, we ran a main analysis computing the standardized mean change (SMCC) from pre to post real stimulation as the effect size, with self-reported craving scores as the outcome measure.</div></div><div><h3>Results</h3><div>The results showed a significant and large effect of real dTMS in reducing craving scores (SMCC = −1.26; 95% CI, −1.67 to −0.86; <em>p</em> &lt; .001). High heterogeneity across studies was found at both quantitative and qualitative levels.</div></div><div><h3>Conclusions</h3><div>Results provide preliminary evidence supporting the effectiveness of dTMS for the treatment of SUDs. Current limitations and future directions are critically discussed, highlighting the need for further rigorous research to refine the therapeutic potential and develop consensus-based guidelines for dTMS clinical application.</div></div>","PeriodicalId":54231,"journal":{"name":"Biological Psychiatry-Cognitive Neuroscience and Neuroimaging","volume":"10 10","pages":"Pages 1005-1014"},"PeriodicalIF":4.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143999085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Editorial Board Page 编委会页面
IF 4.8 2区 医学
Biological Psychiatry-Cognitive Neuroscience and Neuroimaging Pub Date : 2025-10-01 DOI: 10.1016/S2451-9022(25)00270-8
{"title":"Editorial Board Page","authors":"","doi":"10.1016/S2451-9022(25)00270-8","DOIUrl":"10.1016/S2451-9022(25)00270-8","url":null,"abstract":"","PeriodicalId":54231,"journal":{"name":"Biological Psychiatry-Cognitive Neuroscience and Neuroimaging","volume":"10 10","pages":"Page A1"},"PeriodicalIF":4.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145227722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Decomposing the Brain in Autism: Linking Behavioral Domains to Neuroanatomical Variation and Genomic Underpinnings 分解自闭症中的大脑:将行为领域与神经解剖变异和基因组基础联系起来。
IF 4.8 2区 医学
Biological Psychiatry-Cognitive Neuroscience and Neuroimaging Pub Date : 2025-10-01 DOI: 10.1016/j.bpsc.2024.12.003
Hanna Seelemeyer , Caroline Gurr , Johanna Leyhausen , Lisa M. Berg , Charlotte M. Pretzsch , Tim Schäfer , Bassem Hermila , Christine M. Freitag , Eva Loth , Bethany Oakley , Luke Mason , Jan K. Buitelaar , Christian F. Beckmann , Dorothea L. Floris , Tony Charman , Tobias Banaschewski , Emily Jones , Thomas Bourgeron
{"title":"Decomposing the Brain in Autism: Linking Behavioral Domains to Neuroanatomical Variation and Genomic Underpinnings","authors":"Hanna Seelemeyer ,&nbsp;Caroline Gurr ,&nbsp;Johanna Leyhausen ,&nbsp;Lisa M. Berg ,&nbsp;Charlotte M. Pretzsch ,&nbsp;Tim Schäfer ,&nbsp;Bassem Hermila ,&nbsp;Christine M. Freitag ,&nbsp;Eva Loth ,&nbsp;Bethany Oakley ,&nbsp;Luke Mason ,&nbsp;Jan K. Buitelaar ,&nbsp;Christian F. Beckmann ,&nbsp;Dorothea L. Floris ,&nbsp;Tony Charman ,&nbsp;Tobias Banaschewski ,&nbsp;Emily Jones ,&nbsp;Thomas Bourgeron","doi":"10.1016/j.bpsc.2024.12.003","DOIUrl":"10.1016/j.bpsc.2024.12.003","url":null,"abstract":"<div><h3>Background</h3><div>Autism is accompanied by highly individualized patterns of neurodevelopmental differences in brain anatomy. This variability makes the neuroanatomy of autism inherently difficult to describe at the group level. Here, we examined interindividual neuroanatomical differences using a dimensional approach that decomposed the domains of social communication and interaction (SCI), restricted and repetitive behaviors (RRBs), and atypical sensory processing (ASP) within a neurodiverse study population. Moreover, we aimed to link the resulting neuroanatomical patterns to specific molecular underpinnings.</div></div><div><h3>Methods</h3><div>Neurodevelopmental differences in cortical thickness (CT) and surface area (SA) were correlated with SCI, RRB, and ASP domain scores by regression of a general linear model in a large neurodiverse sample of 288 autistic individuals and 140 nonautistic individuals, ages 6 to 30 years, recruited within the European Autism Interventions Longitudinal European Autism Project (EU-AIMS LEAP). The domain-specific patterns of neuroanatomical variability were subsequently correlated with cortical gene expression profiles via the Allen Human Brain Atlas.</div></div><div><h3>Results</h3><div>Across groups, behavioral variations in SCI, RRBs, and ASP were associated with interindividual differences in CT and SA in partially non-overlapping frontoparietal, temporal, and occipital networks. These domain-specific imaging patterns were enriched for genes that 1) are differentially expressed in autism, 2) mediate typical brain development, and 3) are associated with specific cortical cell types. Many of these genes were implicated in pathways governing synaptic structure and function.</div></div><div><h3>Conclusions</h3><div>Our study corroborates the close relationship between neuroanatomical variation and interindividual differences in autism-related symptoms and traits within the general framework of neurodiversity and links domain-specific patterns of neuroanatomical differences to putative molecular underpinnings.</div></div>","PeriodicalId":54231,"journal":{"name":"Biological Psychiatry-Cognitive Neuroscience and Neuroimaging","volume":"10 10","pages":"Pages 1067-1077"},"PeriodicalIF":4.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142866580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bridging Neural Circuits and Gene Expression in Attention-Deficit/Hyperactivity Disorder: Insights From a Multimodal Approach 桥接神经回路和基因表达在注意缺陷/多动障碍:从一个多模态方法的见解
IF 4.8 2区 医学
Biological Psychiatry-Cognitive Neuroscience and Neuroimaging Pub Date : 2025-10-01 DOI: 10.1016/j.bpsc.2025.08.003
Renata Basso Cupertino
{"title":"Bridging Neural Circuits and Gene Expression in Attention-Deficit/Hyperactivity Disorder: Insights From a Multimodal Approach","authors":"Renata Basso Cupertino","doi":"10.1016/j.bpsc.2025.08.003","DOIUrl":"10.1016/j.bpsc.2025.08.003","url":null,"abstract":"","PeriodicalId":54231,"journal":{"name":"Biological Psychiatry-Cognitive Neuroscience and Neuroimaging","volume":"10 10","pages":"Pages 1003-1004"},"PeriodicalIF":4.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145227744","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Guide for Authors 作者指南
IF 4.8 2区 医学
Biological Psychiatry-Cognitive Neuroscience and Neuroimaging Pub Date : 2025-10-01 DOI: 10.1016/S2451-9022(25)00274-5
{"title":"Guide for Authors","authors":"","doi":"10.1016/S2451-9022(25)00274-5","DOIUrl":"10.1016/S2451-9022(25)00274-5","url":null,"abstract":"","PeriodicalId":54231,"journal":{"name":"Biological Psychiatry-Cognitive Neuroscience and Neuroimaging","volume":"10 10","pages":"Pages A6-A11"},"PeriodicalIF":4.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145227741","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Altered Functional Connectivity of Unimodal Sensory and Multisensory Integration Networks Is Related to Symptom Severity in Autism Spectrum Disorder 单感官和多感官整合网络功能连接的改变与自闭症谱系障碍的症状严重程度有关。
IF 4.8 2区 医学
Biological Psychiatry-Cognitive Neuroscience and Neuroimaging Pub Date : 2025-10-01 DOI: 10.1016/j.bpsc.2024.10.014
Yahui Chen , Chen Yang , Bicheng Gao , Kehui Chen , R. Joanne Jao Keehn , Ralph-Axel Müller , Li-Xia Yuan , Yuqi You
{"title":"Altered Functional Connectivity of Unimodal Sensory and Multisensory Integration Networks Is Related to Symptom Severity in Autism Spectrum Disorder","authors":"Yahui Chen ,&nbsp;Chen Yang ,&nbsp;Bicheng Gao ,&nbsp;Kehui Chen ,&nbsp;R. Joanne Jao Keehn ,&nbsp;Ralph-Axel Müller ,&nbsp;Li-Xia Yuan ,&nbsp;Yuqi You","doi":"10.1016/j.bpsc.2024.10.014","DOIUrl":"10.1016/j.bpsc.2024.10.014","url":null,"abstract":"<div><h3>Background</h3><div>Atypical sensory processing<span> is a prevalent feature of autism spectrum disorder<span> (ASD) and constitutes a core diagnostic criterion in DSM-5. However, the neurocognitive underpinnings of atypical unimodal and multimodal sensory processing and their relationships with autism symptoms remain unclear.</span></span></div></div><div><h3>Methods</h3><div><span>In this study, we examined intrinsic functional connectivity<span> (FC) patterns among 5 unimodal sensory and multisensory integration (MSI) networks in ASD using a large multisite dataset (</span></span><em>N</em><span> = 646) and investigated the relationships between altered FC, atypical sensory processing, social communicative deficits, and overall autism symptoms using correlation and mediation analyses.</span></div></div><div><h3>Results</h3><div>Compared with typically developing control participants, participants in the ASD group demonstrated increased FC of the olfactory network, decreased FC within the MSI network, and decreased FC of the MSI–unimodal sensory networks. Furthermore, altered FC was positively associated with autism symptom severity, and such associations were completely mediated by atypical sensory processing and social communicative deficits.</div></div><div><h3>Conclusions</h3><div>ASD-specific olfactory overconnectivity and MSI–unimodal sensory underconnectivity lend support to the intense world theory and weak central coherence theory, suggesting olfactory hypersensitivity at the expense of MSI as a potential neural mechanism underlying atypical sensory processing in ASD. These atypical FC patterns suggest potential targets for psychological and neuromodulatory interventions.</div></div>","PeriodicalId":54231,"journal":{"name":"Biological Psychiatry-Cognitive Neuroscience and Neuroimaging","volume":"10 10","pages":"Pages 1045-1056"},"PeriodicalIF":4.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142570454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Preserved Spontaneous Mentalizing Amid Reduced Intersubject Variability in Autism During a Movie Narrative 自闭症患者在电影叙事过程中的自发心智化保持不变,同时降低了受试者间的变异性。
IF 4.8 2区 医学
Biological Psychiatry-Cognitive Neuroscience and Neuroimaging Pub Date : 2025-10-01 DOI: 10.1016/j.bpsc.2024.10.007
Margot Mangnus , Saskia B.J. Koch , Kexin Cai , Miriam Greidanus Romaneli , Peter Hagoort , Jana Bašnáková , Arjen Stolk
{"title":"Preserved Spontaneous Mentalizing Amid Reduced Intersubject Variability in Autism During a Movie Narrative","authors":"Margot Mangnus ,&nbsp;Saskia B.J. Koch ,&nbsp;Kexin Cai ,&nbsp;Miriam Greidanus Romaneli ,&nbsp;Peter Hagoort ,&nbsp;Jana Bašnáková ,&nbsp;Arjen Stolk","doi":"10.1016/j.bpsc.2024.10.007","DOIUrl":"10.1016/j.bpsc.2024.10.007","url":null,"abstract":"<div><h3>Background</h3><div>While individuals with autism often face challenges in everyday social interactions, they may demonstrate proficiency in structured theory of mind (ToM) tasks that assess their ability to infer others’ mental states. Using functional magnetic resonance imaging and pupillometry, we investigated whether these discrepancies stem from diminished spontaneous mentalizing or broader difficulties in unstructured contexts.</div></div><div><h3>Methods</h3><div>Fifty-two adults diagnosed with autism and 52 neurotypical control participants viewed the animated short <em>Partly Cloudy</em>, a nonverbal animated film with a dynamic social narrative known to engage the ToM brain network during specific scenes. Analysis focused on comparing brain and pupil responses to these ToM events. Additionally, dynamic intersubject correlations were used to explore the variability of these responses throughout the film.</div></div><div><h3>Results</h3><div>Both groups showed similar brain and pupil responses to ToM events and provided comparable descriptions of the characters’ mental states. However, participants with autism exhibited significantly stronger correlations in their responses across the film’s social narrative, indicating reduced interindividual variability. This distinct pattern emerged well before any ToM events and involved brain regions beyond the ToM network.</div></div><div><h3>Conclusions</h3><div>Our findings provide functional evidence of spontaneous mentalizing in autism, demonstrating this capacity in a context that affords but does not require mentalizing. Rather than responses to ToM events, a novel neurocognitive signature—interindividual variability in brain and pupil responses to evolving social narratives—differentiated neurotypical individuals from individuals with autism. These results suggest that idiosyncratic narrative processing in unstructured settings, a common element of everyday social interactions, may offer a more sensitive scenario for understanding the autistic mind.</div></div>","PeriodicalId":54231,"journal":{"name":"Biological Psychiatry-Cognitive Neuroscience and Neuroimaging","volume":"10 10","pages":"Pages 1057-1066"},"PeriodicalIF":4.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142570467","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Subscribers' Page 用户页面
IF 4.8 2区 医学
Biological Psychiatry-Cognitive Neuroscience and Neuroimaging Pub Date : 2025-10-01 DOI: 10.1016/S2451-9022(25)00271-X
{"title":"Subscribers' Page","authors":"","doi":"10.1016/S2451-9022(25)00271-X","DOIUrl":"10.1016/S2451-9022(25)00271-X","url":null,"abstract":"","PeriodicalId":54231,"journal":{"name":"Biological Psychiatry-Cognitive Neuroscience and Neuroimaging","volume":"10 10","pages":"Page A2"},"PeriodicalIF":4.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145227723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Penetrance of Neurodevelopmental Copy Number Variants Is Associated With Variations in Cortical Morphology 神经发育拷贝数变异的外显率与皮层形态的变异有关。
IF 4.8 2区 医学
Biological Psychiatry-Cognitive Neuroscience and Neuroimaging Pub Date : 2025-10-01 DOI: 10.1016/j.bpsc.2025.05.010
Ana I. Silva , Ida E. Sønderby , George Kirov , Abdel Abdellaoui , Ingrid Agartz , David Ames , Nicola J. Armstrong , Eric Artiges , Tobias Banaschewski , Anne S. Bassett , Carrie E. Bearden , John Blangero , Rune Boen , Dorret I. Boomsma , Robin Bülow , Nancy J. Butcher , Vince Calhoun , Linda E. Campbell , Eva W.C. Chow , Simone Ciufolini , David E.J. Linden
{"title":"Penetrance of Neurodevelopmental Copy Number Variants Is Associated With Variations in Cortical Morphology","authors":"Ana I. Silva ,&nbsp;Ida E. Sønderby ,&nbsp;George Kirov ,&nbsp;Abdel Abdellaoui ,&nbsp;Ingrid Agartz ,&nbsp;David Ames ,&nbsp;Nicola J. Armstrong ,&nbsp;Eric Artiges ,&nbsp;Tobias Banaschewski ,&nbsp;Anne S. Bassett ,&nbsp;Carrie E. Bearden ,&nbsp;John Blangero ,&nbsp;Rune Boen ,&nbsp;Dorret I. Boomsma ,&nbsp;Robin Bülow ,&nbsp;Nancy J. Butcher ,&nbsp;Vince Calhoun ,&nbsp;Linda E. Campbell ,&nbsp;Eva W.C. Chow ,&nbsp;Simone Ciufolini ,&nbsp;David E.J. Linden","doi":"10.1016/j.bpsc.2025.05.010","DOIUrl":"10.1016/j.bpsc.2025.05.010","url":null,"abstract":"<div><h3>Background</h3><div>Copy number variants (CNVs) may increase the risk for neurodevelopmental conditions. The neurobiological mechanisms that link these high-risk genetic variants to clinical phenotypes are largely unknown. An important question is whether brain abnormalities in individuals who carry CNVs are associated with their degree of penetrance.</div></div><div><h3>Methods</h3><div>We investigated whether increased CNV penetrance for schizophrenia and other developmental disorders was associated with variations in cortical and subcortical morphology. We pooled T1-weighted brain magnetic resonance imaging and genetic data from 22 cohorts from the ENIGMA (Enhancing Neuro Imaging Genetics through Meta Analysis)-CNV consortium. In the main analyses, we included 9268 individuals (aged 7–90 years, 54% female), from which we identified 398 carriers of 36 neurodevelopmental CNVs at 20 distinct loci. A secondary analysis was performed including additional neuroimaging data from the ENIGMA-22q consortium, including 274 carriers of the 22q11.2 deletion and 291 noncarriers. CNV penetrance was estimated through penetrance scores that were previously generated from large cohorts of patients and controls. These scores represent the probability risk of developing either schizophrenia or other developmental disorders (including developmental delay, autism spectrum disorder, and congenital malformations).</div></div><div><h3>Results</h3><div>For both schizophrenia and developmental disorders, increased penetrance scores were associated with lower surface area in the cerebral cortex and lower intracranial volume. For both conditions, associations between CNV-penetrance scores and cortical surface area were strongest in regions of the occipital lobes, specifically in the cuneus and lingual gyrus.</div></div><div><h3>Conclusions</h3><div>Our findings link global and regional cortical morphometric features with CNV penetrance, providing new insights into neurobiological mechanisms of genetic risk for schizophrenia and other developmental disorders.</div></div>","PeriodicalId":54231,"journal":{"name":"Biological Psychiatry-Cognitive Neuroscience and Neuroimaging","volume":"10 10","pages":"Pages 1093-1106"},"PeriodicalIF":4.8,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144144868","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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