Psychiatry and Clinical Neurosciences最新文献

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Cardiovascular disease, and major depression: Study on both diseases and serum brain-derived neurotrophic factor (BDNF). 心血管疾病和重度抑郁症:关于这两种疾病和血清脑源性神经营养因子(BDNF)的研究。
IF 5 3区 医学
Psychiatry and Clinical Neurosciences Pub Date : 2024-08-01 Epub Date: 2024-06-19 DOI: 10.1111/pcn.13678
Reiji Yoshimura
{"title":"Cardiovascular disease, and major depression: Study on both diseases and serum brain-derived neurotrophic factor (BDNF).","authors":"Reiji Yoshimura","doi":"10.1111/pcn.13678","DOIUrl":"10.1111/pcn.13678","url":null,"abstract":"","PeriodicalId":20938,"journal":{"name":"Psychiatry and Clinical Neurosciences","volume":" ","pages":"429"},"PeriodicalIF":5.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141420652","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Habenular volume changes after venlafaxine treatment in patients with major depression. 重度抑郁症患者接受文拉法辛治疗后血容量的变化。
IF 5 3区 医学
Psychiatry and Clinical Neurosciences Pub Date : 2024-08-01 Epub Date: 2024-06-12 DOI: 10.1111/pcn.13684
Josselin Etienne, Alexandre Boutigny, Denis J David, Eric Deflesselle, Florence Gressier, Laurent Becquemont, Emmanuelle Corruble, Romain Colle
{"title":"Habenular volume changes after venlafaxine treatment in patients with major depression.","authors":"Josselin Etienne, Alexandre Boutigny, Denis J David, Eric Deflesselle, Florence Gressier, Laurent Becquemont, Emmanuelle Corruble, Romain Colle","doi":"10.1111/pcn.13684","DOIUrl":"10.1111/pcn.13684","url":null,"abstract":"<p><strong>Background: </strong>Habenula, a hub brain region controlling monoaminergic brain center, has been implicated in major depressive disorder (MDD) and as a possible target of antidepressant response. Nevertheless, the effect of antidepressant drug treatment on habenular volumes remains unknown. The objective of the present research was to study habenular volume change after antidepressant treatment in patients with MDD, and assess whether it is associated with clinical improvement.</p><p><strong>Methods: </strong>Fifty patients with a current major depressive episode (MDE) in the context of MDD, and antidepressant-free for at least 1 month, were assessed for habenula volume (3T MRI with manual segmentation) before and after a 3 months sequence of venlafaxine antidepressant treatment.</p><p><strong>Results: </strong>A 2.3% significant increase in total habenular volume (absolute volume: P = 0.0013; relative volume: P = 0.0055) and a 3.3% significant increase in left habenular volume (absolute volume: P = 0.00080; relative volume: P = 0.0028) were observed. A significant greater variation was observed in male patients (4.8%) compared to female patients. No association was observed between habenular volume changes and response and remission. Some habenula volume changes were associated with improvement of olfactory pleasantness.</p><p><strong>Conclusion: </strong>Habenular volumes increased after 3 months of venlafaxine treatment in depressed patients. Further studies should assess whether cell proliferation and density or dendritic structure variations are implied in these volume changes.</p>","PeriodicalId":20938,"journal":{"name":"Psychiatry and Clinical Neurosciences","volume":" ","pages":"468-472"},"PeriodicalIF":5.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488621/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141311514","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Metacognition as a window into subjective affective experience. 元认知是主观情感体验的窗口。
IF 5 3区 医学
Psychiatry and Clinical Neurosciences Pub Date : 2024-08-01 Epub Date: 2024-06-17 DOI: 10.1111/pcn.13683
Cody A Cushing, Hakwan Lau, Stefan G Hofmann, Joseph E LeDoux, Vincent Taschereau-Dumouchel
{"title":"Metacognition as a window into subjective affective experience.","authors":"Cody A Cushing, Hakwan Lau, Stefan G Hofmann, Joseph E LeDoux, Vincent Taschereau-Dumouchel","doi":"10.1111/pcn.13683","DOIUrl":"10.1111/pcn.13683","url":null,"abstract":"<p><p>When patients seek professional help for mental disorders, they often do so because of troubling subjective affective experiences. While these subjective states are at the center of the patient's symptomatology, scientific tools for studying them and their cognitive antecedents are limited. Here, we explore the use of concepts and analytic tools from the science of consciousness, a field of research that has faced similar challenges in having to develop robust empirical methods for addressing a phenomenon that has been considered difficult to pin down experimentally. One important strand is the operationalization of some relevant processes in terms of metacognition and confidence ratings, which can be rigorously studied in both humans and animals. By assessing subjective experience with similar approaches, we hope to develop new scientific approaches for studying affective processes and promoting psychological resilience in the face of debilitating emotional experiences.</p>","PeriodicalId":20938,"journal":{"name":"Psychiatry and Clinical Neurosciences","volume":" ","pages":"430-437"},"PeriodicalIF":5.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488623/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141331566","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association of synaptic density and cognitive performance in temporal lobe epilepsy: Humans and animals PET imaging study with [18F]SynVesT-1. 颞叶癫痫突触密度与认知能力的关系:使用[18F]SynVesT-1进行的人类和动物 PET 成像研究。
IF 5 3区 医学
Psychiatry and Clinical Neurosciences Pub Date : 2024-08-01 Epub Date: 2024-05-28 DOI: 10.1111/pcn.13682
Ling Xiao, Shijun Xiang, Chen Chen, Haoyue Zhu, Ming Zhou, Yongxiang Tang, Li Feng, Shuo Hu
{"title":"Association of synaptic density and cognitive performance in temporal lobe epilepsy: Humans and animals PET imaging study with [<sup>18</sup>F]SynVesT-1.","authors":"Ling Xiao, Shijun Xiang, Chen Chen, Haoyue Zhu, Ming Zhou, Yongxiang Tang, Li Feng, Shuo Hu","doi":"10.1111/pcn.13682","DOIUrl":"10.1111/pcn.13682","url":null,"abstract":"<p><strong>Aim: </strong>Cognitive impairment is a common comorbidity in individuals with temporal lobe epilepsy (TLE), yet the underlying mechanisms remain unknown. This study explored the putative association between in vivo synaptic loss and cognitive outcomes in TLE patients by PET imaging of synaptic vesicle glycoprotein 2A (SV2A).</p><p><strong>Methods: </strong>We enrolled 16 TLE patients and 10 cognitively normal controls. All participants underwent SV2A PET imaging using [<sup>18</sup>F]SynVesT-1 and cognitive assessment. Lithium chloride-pilocarpine-induced rats with status epilepticus (n = 20) and controls (n = 6) rats received levetiracetam (LEV, specifically binds to SV2A), valproic acid (VPA), or saline for 14 days. Then, synaptic density was quantified by [<sup>18</sup>F]SynVesT-1 micro-PET/CT. The novel object recognition and Morris water maze tests evaluated TLE-related cognitive function. SV2A expression was examined and confirmed by immunohistochemistry.</p><p><strong>Results: </strong>Temporal lobe epilepsy patients showed significantly reduced synaptic density in hippocampus, which was associated with cognitive performance. In the rat model of TLE, the expression of SV2A and synaptic density decreased consistently in a wider range of brain regions, including the entorhinal cortex, insula, hippocampus, amygdala, thalamus, and cortex. We treated TLE animal models with LEV or VPA to explore whether synaptic loss contributes to cognitive deficits. It was found that LEV significantly exerted protective effects against brain synaptic deficits and cognitive impairment.</p><p><strong>Conclusion: </strong>This is the first study to link synaptic loss to cognitive deficits in TLE, suggesting [<sup>18</sup>F]SynVesT-1 PET could be a promising biomarker for monitoring synaptic loss and cognitive dysfunction. LEV might help reverse synaptic deficits and ameliorate learning and memory impairments in TLE patients.</p>","PeriodicalId":20938,"journal":{"name":"Psychiatry and Clinical Neurosciences","volume":" ","pages":"456-467"},"PeriodicalIF":5.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141158109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Distinct biological property of tau in tau-first cognitive proteinopathy: Evidence by longitudinal clinical neuroimaging profiles and compared with late-onset Alzheimer disease. tau-first认知蛋白病中 tau 的独特生物特性:纵向临床神经影像图谱的证据以及与晚发性阿尔茨海默病的比较。
IF 5 3区 医学
Psychiatry and Clinical Neurosciences Pub Date : 2024-08-01 Epub Date: 2024-06-12 DOI: 10.1111/pcn.13680
Hsin-I Chang, Chi-Wei Huang, Shu-Hua Huang, Shih-Wei Hsu, Kun-Ju Lin, Tsung-Ying Ho, Hsiu-Chuan Wu, Chiung-Chih Chang
{"title":"Distinct biological property of tau in tau-first cognitive proteinopathy: Evidence by longitudinal clinical neuroimaging profiles and compared with late-onset Alzheimer disease.","authors":"Hsin-I Chang, Chi-Wei Huang, Shu-Hua Huang, Shih-Wei Hsu, Kun-Ju Lin, Tsung-Ying Ho, Hsiu-Chuan Wu, Chiung-Chih Chang","doi":"10.1111/pcn.13680","DOIUrl":"10.1111/pcn.13680","url":null,"abstract":"<p><strong>Background: </strong>Tau-first cognitive proteinopathy (TCP) denotes a clinical phenotype of Alzheimer disease (AD) showing Florzolotau(18F) positron emission tomography (PET) positivity but a negative amyloid status.</p><p><strong>Aim: </strong>We explored the biological property of tau using longitudinal cognitive and neuroimaging data in TCP and compared with late-onset AD (LOAD).</p><p><strong>Method: </strong>We enrolled 56 patients with LOAD, 34 patients with TCP, and 26 cognitive unimpaired controls. All of the participants had historical data of 2 to 4 three-dimensional T1 images and 2 to 6 annual cognitive evaluations over a follow-up period of 7 years. Tau topography was measured using Florzolotau(18F) PET. In the LOAD and TCP groups, we constructed tau or gray matter clusters covarying with the cognitive measurements. We used mediator analysis to explore the regional tau load as predictor, gray matter partitions as mediators, and significant cognitive test scores as outcomes. Longitudinal cognitive decline and cortical thickness degeneration pattern were analyzed using a linear mixed-effects model.</p><p><strong>Results: </strong>The TCP group had longitudinal declines in nonexecutive domains. The deterministic factor predicting the short-term memory score in TCP was the hippocampal volume and not directly via the medial and lateral temporal tau load. These features formed the conceptual differences with LOAD.</p><p><strong>Discussion: </strong>The biological properties of tau and the longitudinal cognitive-imaging trajectory support the conceptual distinction between TCP and LOAD. TCP represents one specific entity featuring salient short-term memory impairment, declines in nonexecutive domains, a slower gray matter degenerative pattern, and a restricted impact of tau.</p>","PeriodicalId":20938,"journal":{"name":"Psychiatry and Clinical Neurosciences","volume":" ","pages":"446-455"},"PeriodicalIF":5.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488611/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141306712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
PCN Art Brut Series No. 40, Artwork Description. PCN Brut 艺术系列第 40 号,艺术品说明。
IF 5 3区 医学
Psychiatry and Clinical Neurosciences Pub Date : 2024-08-01 DOI: 10.1111/pcn.13719
Kenjiro Hosaka
{"title":"PCN Art Brut Series No. 40, Artwork Description.","authors":"Kenjiro Hosaka","doi":"10.1111/pcn.13719","DOIUrl":"https://doi.org/10.1111/pcn.13719","url":null,"abstract":"","PeriodicalId":20938,"journal":{"name":"Psychiatry and Clinical Neurosciences","volume":"78 8","pages":"482"},"PeriodicalIF":5.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141890045","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Cholesterol profiling reveals 7β-hydroxycholesterol as a pathologically relevant peripheral biomarker of Alzheimer's disease. 胆固醇分析显示,7β-羟基胆固醇是与阿尔茨海默病病理相关的外周生物标记物。
IF 5 3区 医学
Psychiatry and Clinical Neurosciences Pub Date : 2024-08-01 Epub Date: 2024-06-24 DOI: 10.1111/pcn.13706
Junghee Ha, Go Eun Kwon, Yumi Son, Soo Ah Jang, So Yeon Cho, Soo Jin Park, Hyunjeong Kim, Jimin Lee, Juseok Lee, Dongryul Seo, Myeongjee Lee, Do Yup Lee, Man Ho Choi, Eosu Kim
{"title":"Cholesterol profiling reveals 7β-hydroxycholesterol as a pathologically relevant peripheral biomarker of Alzheimer's disease.","authors":"Junghee Ha, Go Eun Kwon, Yumi Son, Soo Ah Jang, So Yeon Cho, Soo Jin Park, Hyunjeong Kim, Jimin Lee, Juseok Lee, Dongryul Seo, Myeongjee Lee, Do Yup Lee, Man Ho Choi, Eosu Kim","doi":"10.1111/pcn.13706","DOIUrl":"10.1111/pcn.13706","url":null,"abstract":"<p><strong>Aim: </strong>Cholesterol homeostasis is associated with Alzheimer's disease (AD). Despite the multitude of cholesterol metabolites, little is known about which metabolites are directly involved in AD pathogenesis and can serve as its potential biomarkers.</p><p><strong>Methods: </strong>To identify \"hit\" metabolites, steroid profiling was conducted in mice with different age, diet, and genotype and also in humans with normal cognition, mild cognitive impairment, and AD using gas chromatography-mass spectrometry. Then, using one of the \"hit\" molecules (7β-hydroxycholesterol; OHC), molecular and histopathological experiment and behavioral testing were conducted in normal mice following its intracranial stereotaxic injection to see whether this molecule drives AD pathogenesis and causes cognitive impairment.</p><p><strong>Results: </strong>The serum levels of several metabolites, including 7β-OHC, were increased by aging in the 3xTg-AD unlike normal mice. Consistently, the levels of 7β-OHC were increased in the hairs of patients with AD and were correlated with clinical severity. We found that 7β-OHC directly affects AD-related pathophysiology; intrahippocampal injection of 7β-OHC induced astrocyte and microglial cell activation, increased the levels of pro-inflammatory cytokines (TNF-alpha, IL-1β, IL-6), and enhanced amyloidogenic pathway. Mice treated with 7β-OHC also exhibited deficits in memory and frontal/executive functions assessed by object recognition and 5-choice serial reaction time task, respectively.</p><p><strong>Conclusions: </strong>Our results suggest that 7β-OHC could serve as a convenient, peripheral biomarker of AD. As directly involved in AD pathogenesis, 7β-OHC assay may help actualize personalized medicine in a way to identify an at-risk subgroup as a candidate population for statin-based AD treatment.</p>","PeriodicalId":20938,"journal":{"name":"Psychiatry and Clinical Neurosciences","volume":" ","pages":"473-481"},"PeriodicalIF":5.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488599/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141458969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The association between levels of brain-derived neurotrophic factor and comorbid depression in patients with cardiovascular disease: The Framingham Heart Study. 心血管疾病患者脑源性神经营养因子水平与合并抑郁症之间的关系:弗雷明汉心脏研究
IF 5 3区 医学
Psychiatry and Clinical Neurosciences Pub Date : 2024-08-01 Epub Date: 2024-06-06 DOI: 10.1111/pcn.13664
Sara Medved, Joel Salinas, Daniel Kojis, Galit Weinstein, Ramachandran S Vasan, Alexa Beiser, Sudha Seshadri
{"title":"The association between levels of brain-derived neurotrophic factor and comorbid depression in patients with cardiovascular disease: The Framingham Heart Study.","authors":"Sara Medved, Joel Salinas, Daniel Kojis, Galit Weinstein, Ramachandran S Vasan, Alexa Beiser, Sudha Seshadri","doi":"10.1111/pcn.13664","DOIUrl":"10.1111/pcn.13664","url":null,"abstract":"<p><strong>Aim: </strong>The current study aims to investigate the association of serum brain-derived neurotrophic factor (BDNF) levels with symptoms of depression in adults with and without prevalent cardiovascular disease (CVD), an often burdensome comorbidity.</p><p><strong>Methods: </strong>This cross-sectional study included participants from FHS (Framingham Heart Study) who had available serum BDNF levels. Depressive symptoms were assessed using the Center for Epidemiological Studies-Depression Scale (CES-D) with a score ≥16 indicating mild to moderate and ≥21 severe depression. Participants taking antidepressant medications were excluded from the study.</p><p><strong>Results: </strong>Altogether 3716 FHS participants were included in the final analysis (mean age, 64.3 ± 11.5 years; 55% women). After adjusting for potential confounders, greater BDNF levels were associated with reduced severe depression risk (odds ratio [OR], 0.78 [95% CI, 0.64-0.96]; P = 0.016). Among participants with CVD, greater BDNF levels were related to lower risk of depressive symptoms (CES-D ≥ 16 OR, 0.63 [95% CI, 0.45-0.89], P = 0.008; CES-D ≥ 21 OR, 0.49 [95% CI, 0.31-0.76], P = 0.002). The inverse relationship between BDNF and depressive symptom risk was present in women with CVD (CES-D ≥ 16 OR, 0.63 [95% CI, 0.40-0.99], P = 0.047; CES-D ≥ 21 OR, 0.38 [95% CI, 0.21-0.70], P = 0.002) but not in men.</p><p><strong>Conclusion: </strong>Lower serum BDNF levels are associated with a higher risk of depressive symptoms in CVD, particularly among women. These findings implicate BDNF in the complex biological mechanisms that underlie prior associations observed between CVD and depression. To reduce the burden of depression in the large proportion of midlife and older adults with CVD, a better understanding of how BDNF may modify these pathways is merited.</p>","PeriodicalId":20938,"journal":{"name":"Psychiatry and Clinical Neurosciences","volume":" ","pages":"438-445"},"PeriodicalIF":5.0,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11410362/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141261267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Short tandem repeat expansions in cortical layer-specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder. 皮层特异基因的短串联重复扩增与自闭症谱系障碍的表型严重性和适应性有关。
IF 5 3区 医学
Psychiatry and Clinical Neurosciences Pub Date : 2024-07-01 Epub Date: 2024-05-15 DOI: 10.1111/pcn.13676
Jae Hyun Kim, In Gyeong Koh, Hyeji Lee, Gang-Hee Lee, Da-Yea Song, Soo-Whee Kim, Yujin Kim, Jae Hyun Han, Guiyoung Bong, Jeewon Lee, Heejung Byun, Ji Hyun Son, Ye Rim Kim, Yoojeong Lee, Justine Jaewon Kim, Jung Woo Park, Il Bin Kim, Jung Kyoon Choi, Ja-Hyun Jang, Brett Trost, Junehawk Lee, Eunjoon Kim, Hee Jeong Yoo, Joon-Yong An
{"title":"Short tandem repeat expansions in cortical layer-specific genes implicate in phenotypic severity and adaptability of autism spectrum disorder.","authors":"Jae Hyun Kim, In Gyeong Koh, Hyeji Lee, Gang-Hee Lee, Da-Yea Song, Soo-Whee Kim, Yujin Kim, Jae Hyun Han, Guiyoung Bong, Jeewon Lee, Heejung Byun, Ji Hyun Son, Ye Rim Kim, Yoojeong Lee, Justine Jaewon Kim, Jung Woo Park, Il Bin Kim, Jung Kyoon Choi, Ja-Hyun Jang, Brett Trost, Junehawk Lee, Eunjoon Kim, Hee Jeong Yoo, Joon-Yong An","doi":"10.1111/pcn.13676","DOIUrl":"10.1111/pcn.13676","url":null,"abstract":"<p><strong>Aim: </strong>Short tandem repeats (STRs) are repetitive DNA sequences and highly mutable in various human disorders. While the involvement of STRs in various genetic disorders has been extensively studied, their role in autism spectrum disorder (ASD) remains largely unexplored. In this study, we aimed to investigate genetic association of STR expansions with ASD using whole genome sequencing (WGS) and identify risk loci associated with ASD phenotypes.</p><p><strong>Methods: </strong>We analyzed WGS data of 634 ASD families and performed genome-wide evaluation for 12,929 STR loci. We found rare STR expansions that exceeded normal repeat lengths in autism cases compared to unaffected controls. By integrating single cell RNA and ATAC sequencing datasets of human postmortem brains, we prioritized STR loci in genes specifically expressed in cortical development stages. A deep learning method was used to predict functionality of ASD-associated STR loci.</p><p><strong>Results: </strong>In ASD cases, rare STR expansions predominantly occurred in early cortical layer-specific genes involved in neurodevelopment, highlighting the cellular specificity of STR-associated genes in ASD risk. Leveraging deep learning prediction models, we demonstrated that these STR expansions disrupted the regulatory activity of enhancers and promoters, suggesting a potential mechanism through which they contribute to ASD pathogenesis. We found that individuals with ASD-associated STR expansions exhibited more severe ASD phenotypes and diminished adaptability compared to non-carriers.</p><p><strong>Conclusion: </strong>Short tandem repeat expansions in cortical layer-specific genes are associated with ASD and could potentially be a risk genetic factor for ASD. Our study is the first to show evidence of STR expansion associated with ASD in an under-investigated population.</p>","PeriodicalId":20938,"journal":{"name":"Psychiatry and Clinical Neurosciences","volume":" ","pages":"405-415"},"PeriodicalIF":5.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488627/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140945749","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of a mindfulness-based intervention on neurobehavioral functioning and its association with large-scale brain networks in preterm young adolescents. 基于正念的干预对早产青少年神经行为功能的影响及其与大规模大脑网络的关联。
IF 5 3区 医学
Psychiatry and Clinical Neurosciences Pub Date : 2024-07-01 Epub Date: 2024-05-17 DOI: 10.1111/pcn.13675
Vanessa Siffredi, Maria Chiara Liverani, Natalia Fernandez, Lorena G A Freitas, Cristina Borradori Tolsa, Dimitri Van De Ville, Petra Susan Hüppi, Russia Ha-Vinh Leuchter
{"title":"Impact of a mindfulness-based intervention on neurobehavioral functioning and its association with large-scale brain networks in preterm young adolescents.","authors":"Vanessa Siffredi, Maria Chiara Liverani, Natalia Fernandez, Lorena G A Freitas, Cristina Borradori Tolsa, Dimitri Van De Ville, Petra Susan Hüppi, Russia Ha-Vinh Leuchter","doi":"10.1111/pcn.13675","DOIUrl":"10.1111/pcn.13675","url":null,"abstract":"<p><strong>Aim: </strong>Adolescents born very preterm (VPT; <32 weeks of gestation) face an elevated risk of executive, behavioral, and socioemotional difficulties. Evidence suggests beneficial effects of mindfulness-based intervention (MBI) on these abilities. This study seeks to investigate the association between the effects of MBI on executive, behavioral, and socioemotional functioning and reliable changes in large-scale brain networks dynamics during rest in VPT young adolescents who completed an 8-week MBI program.</p><p><strong>Methods: </strong>Neurobehavioral assessments and resting-state functional magnetic resonance imaging were performed before and after MBI in 32 VPT young adolescents. Neurobehavioral abilities in VPT participants were compared with full-term controls. In the VPT group, dynamic functional connectivity was extracted by using the innovation-driven coactivation patterns framework. The reliable change index was used to quantify change after MBI. A multivariate data-driven approach was used to explore associations between MBI-related changes on neurobehavioral measures and temporal brain dynamics.</p><p><strong>Results: </strong>Compared with term-born controls, VPT adolescents showed reduced executive and socioemotional functioning before MBI. After MBI, a significant improvement was observed for all measures that were previously reduced in the VPT group. The increase in executive functioning, only, was associated with reliable changes in the duration of activation of large-scale brain networks, including frontolimbic, amygdala-hippocampus, dorsolateral prefrontal, and visual networks.</p><p><strong>Conclusion: </strong>The improvement in executive functioning after an MBI was associated with reliable changes in large-scale brain network dynamics during rest. These changes encompassed frontolimbic, amygdala-hippocampus, dorsolateral prefrontal, and visual networks that are related to different executive processes including self-regulation, attentional control, and attentional awareness of relevant sensory stimuli.</p>","PeriodicalId":20938,"journal":{"name":"Psychiatry and Clinical Neurosciences","volume":" ","pages":"416-425"},"PeriodicalIF":5.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11488620/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140959398","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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