Psychiatry and Clinical Neurosciences最新文献

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Neuropsychiatric symptoms cluster and fluctuate over time in behavioral variant frontotemporal dementia.
IF 5 3区 医学
Psychiatry and Clinical Neurosciences Pub Date : 2025-03-13 DOI: 10.1111/pcn.13810
Christopher B Morrow, Vidyulata Kamath, Bradford C Dickerson, Mark Eldaief, Neguine Rezaii, Bonnie Wong, Scott McGinnis, Ryan Darby, Adam M Staffaroni, Maria I Lapid, Belen Pascual, Julio C Rojas, Joseph C Masdeu, Kyrana Tsapkini, Edward D Huey, Daniel W Fisher, Alexander Pantelyat, Akshata Balaji, Eric Sah, Irene Litvan, Katya Rascovsky, Nupur Ghoshal, Kimiko Domoto-Reilly, John Kornak, Chiadi U Onyike
{"title":"Neuropsychiatric symptoms cluster and fluctuate over time in behavioral variant frontotemporal dementia.","authors":"Christopher B Morrow, Vidyulata Kamath, Bradford C Dickerson, Mark Eldaief, Neguine Rezaii, Bonnie Wong, Scott McGinnis, Ryan Darby, Adam M Staffaroni, Maria I Lapid, Belen Pascual, Julio C Rojas, Joseph C Masdeu, Kyrana Tsapkini, Edward D Huey, Daniel W Fisher, Alexander Pantelyat, Akshata Balaji, Eric Sah, Irene Litvan, Katya Rascovsky, Nupur Ghoshal, Kimiko Domoto-Reilly, John Kornak, Chiadi U Onyike","doi":"10.1111/pcn.13810","DOIUrl":"https://doi.org/10.1111/pcn.13810","url":null,"abstract":"<p><strong>Aim: </strong>Cognitive and behavioral phenomena define behavioral variant frontotemporal dementia (bvFTD), but neuropsychiatric symptoms (NPS) outside the core criteria are common throughout the illness. Identifying how NPS cluster in bvFTD may guide development of future therapies.</p><p><strong>Methods: </strong>Participants (n = 354) with sporadic and genetic bvFTD were enrolled in the ARTFL LEFFTDS Longitudinal Frontotemporal Lobar Degeneration Consortium. Dementia stage was defined as early (CDR® plus NACC FTLD ≤1) or advanced (CDR® plus NACC FTLD ≥1). Baseline and annual follow-up visit data were analyzed to compare NPS across stages of bvFTD. Psychiatric states were captured using the Neuropsychiatric Inventory-Questionnaire and Clinician Judgment of Symptoms. Polychoric cluster analysis was used to describe NPS clusters.</p><p><strong>Results: </strong>NPS were highly prevalent (≥90%) in early and late bvFTD. Four NPS clusters were identified based on magnitude of factor loadings: affective, disinhibited, compulsive, and psychosis. Neuropsychiatric symptoms fluctuated across visits. In the affective cluster, depression showed the least visit-to-visit stability. In the disinhibited cluster, elation showed the least stability. Symptoms in the psychosis and compulsive clusters (hallucinations, delusions, obsessions/compulsions, and hyperorality) were largely stable, persisting from visit-to-visit in more than 50% of cases. Symptoms in the affective and disinhibited cluster were associated with the highest caregiver burden, while symptoms in the obsessive cluster were associated with the most functional impairment.</p><p><strong>Conclusion: </strong>NPS in bvFTD are frequent and cluster into four discrete groups. The fluctuating nature of some NPS in bvFTD suggests that they may not be reliable markers of disease progression or stage.</p>","PeriodicalId":20938,"journal":{"name":"Psychiatry and Clinical Neurosciences","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143625823","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
Atypical tactile preferences in autism spectrum disorder: Reduced pleasantness responses to soft objects resembling human body parts.
IF 5 3区 医学
Psychiatry and Clinical Neurosciences Pub Date : 2025-03-12 DOI: 10.1111/pcn.13808
Kai Makita, Ryo Kitada, Takuya Makino, Nodoka Sakakihara, Ayaka Fukuoka, Hirotaka Kosaka
{"title":"Atypical tactile preferences in autism spectrum disorder: Reduced pleasantness responses to soft objects resembling human body parts.","authors":"Kai Makita, Ryo Kitada, Takuya Makino, Nodoka Sakakihara, Ayaka Fukuoka, Hirotaka Kosaka","doi":"10.1111/pcn.13808","DOIUrl":"https://doi.org/10.1111/pcn.13808","url":null,"abstract":"<p><strong>Aim: </strong>Previous studies have reported atypical sensory responses in individuals with autism spectrum disorder (ASD) and their implications for social touch. Although adults with ASD often report discomfort with being touched by others, their preferences for the physical properties of objects are less well understood. In a prior study, we observed that, in typically developed (TD) adults, compliance (a physical correlate of softness) increased tactile pleasantness for deformable surfaces up to levels comparable to those of human body parts. In the present study, we conducted psychophysical experiments to test whether individuals with ASD show atypical affective responses to soft objects resembling human body parts.</p><p><strong>Methods: </strong>Thirty-six adults with ASD and 36 TD adults numerically estimated the perceived pleasantness or softness while lightly pressing urethane rubbers with their right index fingers.</p><p><strong>Results: </strong>The results revealed that pleasantness increased as a function of compliance, but this increase was significantly smaller for patients with ASD than TD adults, particularly at compliance levels including human body parts. However, the perceived softness increased as a function of compliance highly similarly between the ASD and TD groups.</p><p><strong>Conclusions: </strong>These findings demonstrate an atypical preference of individuals with ASD for soft objects such as human body parts, which may help explain their tendency to avoid social touch.</p>","PeriodicalId":20938,"journal":{"name":"Psychiatry and Clinical Neurosciences","volume":" ","pages":""},"PeriodicalIF":5.0,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143606201","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
Identifying Distinct Developmental Patterns of Brain Complexity in Autism: A Cross-Sectional Cohort Analysis Using the Autism Brain Imaging Data Exchange. 识别自闭症大脑复杂性的独特发展模式:使用自闭症脑成像数据交换的横断面队列分析。
IF 5 3区 医学
Psychiatry and Clinical Neurosciences Pub Date : 2025-03-01 Epub Date: 2025-01-11 DOI: 10.1111/pcn.13780
I-Jou Chi, Shih-Jen Tsai, Chun-Houh Chen, Albert C Yang
{"title":"Identifying Distinct Developmental Patterns of Brain Complexity in Autism: A Cross-Sectional Cohort Analysis Using the Autism Brain Imaging Data Exchange.","authors":"I-Jou Chi, Shih-Jen Tsai, Chun-Houh Chen, Albert C Yang","doi":"10.1111/pcn.13780","DOIUrl":"10.1111/pcn.13780","url":null,"abstract":"<p><strong>Aim: </strong>Autistic traits exhibit neurodiversity with varying behaviors across developmental stages. Brain complexity theory, illustrating the dynamics of neural activity, may elucidate the evolution of autistic traits over time. Our study explored the patterns of brain complexity in autistic individuals from childhood to adulthood.</p><p><strong>Methods: </strong>We analyzed functional magnetic resonance imaging data from 1087 autistic participants and neurotypical controls aged 6 to 30 years within the ABIDE I (Autism Brain Imaging Data Exchange) data set. Sample entropy was calculated to measure brain complexity among 90 brain regions, utilizing an automated anatomical labeling template for voxel parcellation. Participants were grouped using sliding age windows with partial overlaps. We assessed the average brain complexity of the entire brain and brain regions for both groups across age categories. Cluster analysis was conducted using generalized association plots to identify brain regions with similar developmental complexity trajectories. Finally, the relationship between brain region complexity and autistic traits was examined.</p><p><strong>Results: </strong>Autistic individuals may tend toward higher whole-brain complexity during adolescence and lower complexity during childhood and adulthood, indicating possible distinct developmental trajectories. However, these results do not remain after Bonferroni correction. Two clusters of brain regions were identified, each with unique patterns of complexity changes over time. Correlations between brain region complexity, age, and autistic traits were also identified.</p><p><strong>Conclusion: </strong>The study revealed brain complexity trajectories in autistic individuals, providing insight into the neurodiversity of autism and suggesting that age-related changes in brain complexity could be a potential neurodevelopmental marker for the dynamic nature of autism.</p>","PeriodicalId":20938,"journal":{"name":"Psychiatry and Clinical Neurosciences","volume":" ","pages":"98-107"},"PeriodicalIF":5.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11874071/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142966209","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
Second-generation antipsychotic-induced dystonia: Analysis using the Japanese Adverse Drug Event Report (JADER) database. 第二代抗精神病药物引起的肌张力障碍:使用日本不良药物事件报告(JADER)数据库进行分析。
IF 5 3区 医学
Psychiatry and Clinical Neurosciences Pub Date : 2025-03-01 Epub Date: 2025-01-21 DOI: 10.1111/pcn.13785
Takumi Ebina, Kunihiro Iwamoto, Masahiko Ando, Masashi Ikeda
{"title":"Second-generation antipsychotic-induced dystonia: Analysis using the Japanese Adverse Drug Event Report (JADER) database.","authors":"Takumi Ebina, Kunihiro Iwamoto, Masahiko Ando, Masashi Ikeda","doi":"10.1111/pcn.13785","DOIUrl":"10.1111/pcn.13785","url":null,"abstract":"<p><strong>Aim: </strong>This study aimed to explore the comparative risks for dystonia among different second-generation antipsychotics (SGAs), the influence of sex, and the relationship between the time-to-onset of dystonia and its outcomes.</p><p><strong>Methods: </strong>We analyzed data from the Japanese Adverse Drug Event Report database from April 2004 to November 2023. Cases involving oral SGAs, excluding clozapine, were extracted. We used the odds ratios to assess the reporting proportions among SGAs and sex, analyzed the median time-to-onset and interquartile ranges (IQRs), and conducted a receiver operating characteristic (ROC) curve analysis to investigate the time-to-onset of dystonia and its relationship to outcomes.</p><p><strong>Results: </strong>We extracted 9837 cases involving oral SGAs. Lurasidone was associated with a significantly higher proportion of dystonia reports than risperidone, aripiprazole, quetiapine, and olanzapine. The reporting proportion of dystonia associated with aripiprazole was lower than that of paliperidone and risperidone, but higher than that of quetiapine and olanzapine. Female sex was significantly associated with a higher reporting proportion of dystonia compared with males. Among the 148 cases of oral SGA-induced dystonia, the median time-to-onset was 125 days (IQR, 19.75-453.25 days). Divided into the three outcome groups (recovered, improved, and unrecovered/residual), those with better outcomes had a shorter time-to-onset than those with poorer outcomes. ROC curve analysis suggested a threshold of 91.5 days for discriminating outcomes, with a sensitivity of 71.7% and specificity of 69.9%.</p><p><strong>Conclusions: </strong>The risks of dystonia may vary among SGAs and between sexes. SGA-induced dystonia often manifests in the tardive form.</p>","PeriodicalId":20938,"journal":{"name":"Psychiatry and Clinical Neurosciences","volume":" ","pages":"117-124"},"PeriodicalIF":5.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11874247/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143010597","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
Digital phenotyping of social functioning and employment in people with schizophrenia: Pilot data from an international sample. 精神分裂症患者社会功能和就业的数字表型:来自国际样本的试点数据。
IF 5 3区 医学
Psychiatry and Clinical Neurosciences Pub Date : 2025-03-01 Epub Date: 2025-01-22 DOI: 10.1111/pcn.13786
Erlend Lane, Lucy Gray, David Kimhy, Dilip Jeste, John Torous
{"title":"Digital phenotyping of social functioning and employment in people with schizophrenia: Pilot data from an international sample.","authors":"Erlend Lane, Lucy Gray, David Kimhy, Dilip Jeste, John Torous","doi":"10.1111/pcn.13786","DOIUrl":"10.1111/pcn.13786","url":null,"abstract":"<p><strong>Aim: </strong>Individuals living with schizophrenia experience significant impairments in social functioning. As a major clinical outcome, social functioning requires appropriate measurement tools that can capture its dynamic nature. Digital phenotyping, using smartphone technology to collect high volume ecologically valid data, can potentially capture these facets. We investigated the viability of digital data, such as GPS, Accelerometer, and screen activation as a proxy for common social functioning measurements.</p><p><strong>Methods: </strong>We used an ordinary least squares linear regression approach to compare the performance of digital signals with the performance of past social functioning scale (SFS) scores for predicting current SFS scores and subdomain values in 62 individuals with schizophrenia using smartphone and clinical assessments over the course of a year. The outcome of interest was the current SFS, for which we compared the capacity of the digital data (active and passive), and prior SFS scores to predict SFS scores.</p><p><strong>Results: </strong>Overall, the sub-scale models in order of performance (measured by RMSE score) were: (i) employment, (ii) social engagement, (iii) interpersonal behavior, (iv) recreation, (v) prosocial activities, (vii) performance, and (vii) competence. Digital data were particularly capable of predicting subdomain scores for employment (R<sup>2</sup> = 0.746, Mean Squared Error (MSE) = 1.663) and social engagement (R<sup>2</sup> = 0.710, MSE = 2.318).</p><p><strong>Conclusions: </strong>Digital phenotyping may have the capacity to operate as a proxy for certain social functioning measures. Future research should expand on this pilot data by focusing on establishing the reliability and validity of digital phenotyping to measure social functioning, and exploring which subdomains of social functioning are best measured digitally.</p>","PeriodicalId":20938,"journal":{"name":"Psychiatry and Clinical Neurosciences","volume":" ","pages":"125-130"},"PeriodicalIF":5.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143010591","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
RETRACTION: High Consumption of Whole Grain Foods Decreases the Risk of Dementia and Alzheimer's Disease: Framingham Offspring Cohort.
IF 5 3区 医学
Psychiatry and Clinical Neurosciences Pub Date : 2025-03-01 Epub Date: 2025-01-22 DOI: 10.1111/pcn.13787
{"title":"RETRACTION: High Consumption of Whole Grain Foods Decreases the Risk of Dementia and Alzheimer's Disease: Framingham Offspring Cohort.","authors":"","doi":"10.1111/pcn.13787","DOIUrl":"10.1111/pcn.13787","url":null,"abstract":"<p><strong>Retraction: </strong>K. Wang , W. Tang , X. Hao , and H. Liu , \"High Consumption of Whole Grain Foods Decreases the Risk of Dementia and Alzheimer's Disease: Framingham Offspring Cohort,\" Psychiatry and Clinical Neurosciences 77, no. 3 (2023): 141-148, https://doi.org/10.1111/pcn.13509. The above article, published online on 16 November 2022 in Wiley Online Library (wileyonlinelibrary.com), has been retracted by agreement between the journal's Editors-in-Chief, Tadafumi Kato and Hidehiko Takahashi; the Japanese Society of Psychiatry and Neurology; and John Wiley & Sons Australia. The retraction has been agreed as the authors did not have the appropriate approvals in place from the National Heart, Lung and Blood Institute (NHLBI) for use of the data in this article. This contravenes the journal's policy on data use and the journal is issuing this retraction as a result.</p>","PeriodicalId":20938,"journal":{"name":"Psychiatry and Clinical Neurosciences","volume":" ","pages":"133"},"PeriodicalIF":5.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143024247","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
Neurobiological fingerprints of negative symptoms in schizophrenia identified by connectome-based modeling. 基于连接体的模型识别精神分裂症阴性症状的神经生物学指纹
IF 5 3区 医学
Psychiatry and Clinical Neurosciences Pub Date : 2025-03-01 Epub Date: 2025-01-15 DOI: 10.1111/pcn.13782
Ziyang Gao, Yuan Xiao, Fei Zhu, Bo Tao, Qiannan Zhao, Wei Yu, Jeffrey R Bishop, Qiyong Gong, Su Lui
{"title":"Neurobiological fingerprints of negative symptoms in schizophrenia identified by connectome-based modeling.","authors":"Ziyang Gao, Yuan Xiao, Fei Zhu, Bo Tao, Qiannan Zhao, Wei Yu, Jeffrey R Bishop, Qiyong Gong, Su Lui","doi":"10.1111/pcn.13782","DOIUrl":"10.1111/pcn.13782","url":null,"abstract":"<p><strong>Aim: </strong>As a central component of schizophrenia psychopathology, negative symptoms result in detrimental effects on long-term functional prognosis. However, the neurobiological mechanism underlying negative symptoms remains poorly understood, which limits the development of novel treatment interventions. This study aimed to identify the specific neural fingerprints of negative symptoms in schizophrenia.</p><p><strong>Methods: </strong>Based on resting-state functional connectivity data obtained in a large sample (n = 132) of first-episode drug-naïve schizophrenia patients (DN-FES), connectome-based predictive modeling (CPM) with cross-validation was applied to identify functional networks that predict the severity of negative symptoms. The generalizability of identified networks was then validated in an independent sample of n = 40 DN-FES.</p><p><strong>Results: </strong>A connectivity pattern significantly driving the prediction of negative symptoms (ρ = 0.28, MSE = 81.04, P = 0.012) was identified within and between networks implicated in motivation (medial frontal, subcortical, sensorimotor), cognition (default mode, frontoparietal, medial frontal) and error processing (medial frontal and cerebellum). The identified networks also predicted negative symptoms in the independent validation sample (ρ = 0.37, P = 0.018). Importantly, the predictive model was symptom-specific and robust considering the potential effects of demographic characteristics and validation strategies.</p><p><strong>Conclusions: </strong>Our study discovers and validates a comprehensive network model as the unique neural substrates of negative symptoms in schizophrenia, which provides a novel and comprehensive perspective to the development of target treatment strategies for negative symptoms.</p>","PeriodicalId":20938,"journal":{"name":"Psychiatry and Clinical Neurosciences","volume":" ","pages":"108-116"},"PeriodicalIF":5.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143010593","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
Examining the feasibility and limitations of AST-001 as a treatment for autism spectrum disorder. 检查AST-001治疗自闭症谱系障碍的可行性和局限性。
IF 5 3区 医学
Psychiatry and Clinical Neurosciences Pub Date : 2025-03-01 Epub Date: 2024-12-12 DOI: 10.1111/pcn.13775
Chenxi Wang, Huichuan Tian, Jin Shang
{"title":"Examining the feasibility and limitations of AST-001 as a treatment for autism spectrum disorder.","authors":"Chenxi Wang, Huichuan Tian, Jin Shang","doi":"10.1111/pcn.13775","DOIUrl":"10.1111/pcn.13775","url":null,"abstract":"","PeriodicalId":20938,"journal":{"name":"Psychiatry and Clinical Neurosciences","volume":" ","pages":"131"},"PeriodicalIF":5.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142814099","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
Response to [Examining the feasibility and limitations of AST-001 as a treatment for autism spectrum disorder].
IF 5 3区 医学
Psychiatry and Clinical Neurosciences Pub Date : 2025-03-01 Epub Date: 2025-02-03 DOI: 10.1111/pcn.13784
Hyo-Won Kim, Su-Kyeong Hwang, Yoo-Sook Joung
{"title":"Response to [Examining the feasibility and limitations of AST-001 as a treatment for autism spectrum disorder].","authors":"Hyo-Won Kim, Su-Kyeong Hwang, Yoo-Sook Joung","doi":"10.1111/pcn.13784","DOIUrl":"10.1111/pcn.13784","url":null,"abstract":"","PeriodicalId":20938,"journal":{"name":"Psychiatry and Clinical Neurosciences","volume":" ","pages":"132"},"PeriodicalIF":5.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143080394","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
Whole-genome sequencing analysis of Japanese autism spectrum disorder trios. 日本自闭症谱系障碍三人组全基因组测序分析。
IF 5 3区 医学
Psychiatry and Clinical Neurosciences Pub Date : 2025-03-01 Epub Date: 2024-11-28 DOI: 10.1111/pcn.13767
Sawako Furukawa, Itaru Kushima, Hidekazu Kato, Hiroki Kimura, Yoshihiro Nawa, Branko Aleksic, Masahiro Banno, Maeri Yamamoto, Mariko Uematsu, Yukako Nagasaki, Tomoo Ogi, Norio Ozaki, Masashi Ikeda
{"title":"Whole-genome sequencing analysis of Japanese autism spectrum disorder trios.","authors":"Sawako Furukawa, Itaru Kushima, Hidekazu Kato, Hiroki Kimura, Yoshihiro Nawa, Branko Aleksic, Masahiro Banno, Maeri Yamamoto, Mariko Uematsu, Yukako Nagasaki, Tomoo Ogi, Norio Ozaki, Masashi Ikeda","doi":"10.1111/pcn.13767","DOIUrl":"10.1111/pcn.13767","url":null,"abstract":"<p><strong>Aim: </strong>Autism spectrum disorder (ASD) is a genetically and phenotypically heterogeneous neurodevelopmental disorder with a strong genetic basis. Conducting the first comprehensive whole-genome sequencing (WGS) analysis of Japanese ASD trios, this study aimed to elucidate the clinical significance of pathogenic variants and enhance the understanding of ASD pathogenesis.</p><p><strong>Methods: </strong>WGS was performed on 57 Japanese patients with ASD and their parents, investigating variants ranging from single-nucleotide variants to structural variants (SVs), short tandem repeats (STRs), mitochondrial variants, and polygenic risk score (PRS).</p><p><strong>Results: </strong>Potentially pathogenic variants that could explain observed phenotypes were identified in 18 patients (31.6%) overall and in 10 of 23 patients (43.5%) with comorbid intellectual developmental disorder (IDD). De novo variants in PTEN, CHD7, and HNRNPH2 were identified in patients referred for genetic counseling who exhibited previously reported phenotypes, including one patient with ASD who had profound IDD and macrocephaly with PTEN L320S. Analysis of the AlphaFold3 protein structure indicated potential inhibition of intramolecular interactions within PTEN. SV analysis identified deletions in ARHGAP11B and TMLHE. A pathogenic de novo mitochondrial variant was identified in a patient with ASD who had a history of encephalitis and cognitive decline. GO enrichment analysis of genes with nonsense variants and missense variants (Missense badness, PolyPhen-2, and Constraint >1) showed associations with regulation of growth and ATP-dependent chromatin remodeler activity. No reportable results were obtained in the analysis of STR and PRS.</p><p><strong>Conclusion: </strong>Characterizing the comprehensive genetic architecture and phenotypes of ASD is a fundamental step towards unraveling its complex biology.</p>","PeriodicalId":20938,"journal":{"name":"Psychiatry and Clinical Neurosciences","volume":" ","pages":"87-97"},"PeriodicalIF":5.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11874045/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142751506","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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