Right Posterior Insula and Putamen Volume Mediate the Effect of Oxytocin Receptor Polygenic Risk for Autism Spectrum Disorders on Reward Dependence in Healthy Adults

2020 ◽  
Author(s):  
Junping Wang ◽  
Peng Zhang ◽  
Wei Li ◽  
Qin Wen ◽  
Feng Liu ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Personality Trait ◽  
Autism Spectrum ◽  
Oxytocin Receptor ◽  
Polygenic Risk Score ◽  
Polygenic Risk ◽  
Reward Dependence ◽  
Posterior Insula ◽  
Spectrum Disorders ◽  
The Right

Abstract Much evidence indicates the influence of the oxytocin receptor (OXTR) gene on autism spectrum disorders (ASDs), a set of disorders characterized by a range of deficits in prosocial behaviors, which are closely related to the personality trait of reward dependence (RD). However, we do not know the effect of the OXTR polygenic risk score for ASDs (OXTR-PRSASDs) on RD and its underlying neuroanatomical substrate. Here, we aimed to investigate associations among the OXTR-PRSASDs, gray matter volume (GMV), and RD in two independent datasets of healthy young adults (n = 450 and 540). We found that the individuals with higher OXTR-PRSASDs had lower RD and significantly smaller GMV in the right posterior insula and putamen. The GMV of this region showed a positive correlation with RD and a mediation effect on the association between OXTR-PRSASDs and RD. Moreover, the correlation map between OXTR-PRSASDs and GMV showed spatial correlation with OXTR gene expression. All results were highly consistent between the two datasets. These findings highlight a possible neural pathway by which the common variants in the OXTR gene associated with ASDs may jointly impact the GMV of the right posterior insula and putamen and further affect the personality trait of RD.

scholarly journals Genetic underpinnings of sociability in the general population

2021 ◽  
Author(s):  
Janita Bralten ◽  
Nina R. Mota ◽  
Cornelius J. H. M. Klemann ◽  
Ward De Witte ◽  
Emma Laing ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Autism Spectrum Disorders ◽  
Social Behavior ◽  
General Population ◽  
Autism Spectrum ◽  
Polygenic Risk Score ◽  
Brain Disorders ◽  
Polygenic Risk ◽  
Behavior Outcomes ◽  
Spectrum Disorders

AbstractLevels of sociability are continuously distributed in the general population, and decreased sociability represents an early manifestation of several brain disorders. Here, we investigated the genetic underpinnings of sociability in the population. We performed a genome-wide association study (GWAS) of a sociability score based on four social functioning-related self-report questions from 342,461 adults in the UK Biobank. Subsequently we performed gene-wide and functional follow-up analyses. Robustness analyses were performed in the form of GWAS split-half validation analyses, as well as analyses excluding neuropsychiatric cases. Using genetic correlation analyses as well as polygenic risk score analyses we investigated genetic links of our sociability score to brain disorders and social behavior outcomes. Individuals with autism spectrum disorders, bipolar disorder, depression, and schizophrenia had a lower sociability score. The score was significantly heritable (SNP h2 of 6%). We identified 18 independent loci and 56 gene-wide significant genes, including genes like ARNTL, DRD2, and ELAVL2. Many associated variants are thought to have deleterious effects on gene products and our results were robust. The sociability score showed negative genetic correlations with autism spectrum, disorders, depression, schizophrenia, and two sociability-related traits—loneliness and social anxiety—but not with bipolar disorder or Alzheimer’s disease. Polygenic risk scores of our sociability GWAS were associated with social behavior outcomes within individuals with bipolar disorder and with major depressive disorder. Variation in population sociability scores has a genetic component, which is relevant to several psychiatric disorders. Our findings provide clues towards biological pathways underlying sociability.

scholarly journals Sex-different abnormalities in the right second to fourth digit ratio in Japanese individuals with autism spectrum disorders

2015 ◽  
Vol 6 (1) ◽  
Author(s):  
Yasuhiro Masuya ◽  
Yuko Okamoto ◽  
Keisuke Inohara ◽  
Yukiko Matsumura ◽  
Toru Fujioka ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Autism Spectrum ◽  
Digit Ratio ◽  
Fourth Digit ◽  
Spectrum Disorders ◽  
The Right

FC05-05 - Fronto-temporal disconnectivity and symptom severity in autism spectrum disorders

2011 ◽  
Vol 26 (S2) ◽  
pp. 1838-1838
Author(s):  
L. Poustka ◽  
C. Jennen-Steinmetz ◽  
R. Henze ◽  
B. Stieltjes ◽  
Keyword(s):  
Autism Spectrum Disorders ◽  
White Matter ◽  
Symptom Severity ◽  
Diffusion Tensor ◽  
Autism Spectrum ◽  
Diagnostic Interview ◽  
Embedded Figures Test ◽  
Fiber Tracts ◽  
Spectrum Disorders ◽  
The Right

BackgroundThere is increasing evidence that many of the core behavioral impairments in autism spectrum disorders (ASD) emerge from disconnectivity of networks that are important for social communication. It is less clear, which specific fiber tracts are involved and how possible alterations of white matter are associated with clinical symptomatology and neuropsychololgical characteristics in ASD.Methods18 children with ASD and 18 carefully matched typically developing controls aged 6–12 years were examined using diffusion tensor imaging (DTI) and voxel-based morphometry (VBM). Fractional anisotropy (FA) values were correlated with symptom severity as indexed by the children's scores on the Autisms Diagnostic Observation Schedule (ADOS) and the Autism Diagnostic Interview-Revised (ADI-R) and results from the Childrens Embedded Figures Test (CEFT).ResultsDecreased FA values were identified for the fornix (FO), the superior longitudinal fasciculus (SLF) the corpus callosum and the uncinate fasciculus (UF) in the ASD group compared to controls, with most prominent differences in the UF bilaterally and the right SLF. FA values of affected fiber tracts were negatively associated with clinical measures of autistic smypotmatology and response time of the CEFT. Additionally, we observed decreased grey matter concentration in the left supramarginal gyrus.ConclusionOur findings support the hypothesis of abnormal white matter microstructure of fronto-temporal cortical networks in ASD, which are associated with core symptoms of the disorder.

scholarly journals Dynamic Functional Connectivity Alterations and Their Associated Gene Expression Pattern in Autism Spectrum Disorders

2022 ◽  
Vol 15 ◽  
Author(s):  
Lin Ma ◽  
Tengfei Yuan ◽  
Wei Li ◽  
Lining Guo ◽  
Dan Zhu ◽  
...  
Keyword(s):  
Gene Expression ◽  
Autism Spectrum Disorders ◽  
Functional Connectivity ◽  
Symptom Severity ◽  
Molecular Mechanisms ◽  
Autism Spectrum ◽  
Angular Gyrus ◽  
Dynamic Functional Connectivity ◽  
Spectrum Disorders ◽  
The Right

Autism spectrum disorders (ASDs) are a group of heterogeneous neurodevelopmental disorders that are highly heritable and are associated with impaired dynamic functional connectivity (DFC). However, the molecular mechanisms behind DFC alterations remain largely unknown. Eighty-eight patients with ASDs and 87 demographically matched typical controls (TCs) from the Autism Brain Imaging Data Exchange II database were included in this study. A seed-based sliding window approach was then performed to investigate the DFC changes in each of the 29 seeds in 10 classic resting-state functional networks and the whole brain. Subsequently, the relationships between DFC alterations in patients with ASDs and their symptom severity were assessed. Finally, transcription-neuroimaging association analyses were conducted to explore the molecular mechanisms of DFC disruptions in patients with ASDs. Compared with TCs, patients with ASDs showed significantly increased DFC between the right dorsolateral prefrontal cortex (DLPFC) and left fusiform/lingual gyrus, between the DLPFC and the superior temporal gyrus, between the right frontal eye field (FEF) and left middle frontal gyrus, between the FEF and the right angular gyrus, and between the left intraparietal sulcus and the right middle temporal gyrus. Moreover, significant relationships between DFC alterations and symptom severity were observed. Furthermore, the genes associated with DFC changes in ASDs were identified by performing gene-wise across-sample spatial correlation analysis between gene expression extracted from six donors’ brain of the Allen Human Brain Atlas and case-control DFC difference. In enrichment analysis, these genes were enriched for processes associated with synaptic signaling and voltage-gated ion channels and calcium pathways; also, these genes were highly expressed in autistic disorder, chronic alcoholic intoxication and several disorders related to depression. These results not only demonstrated higher DFC in patients with ASDs but also provided novel insight into the molecular mechanisms underlying these alterations.

A Sleeping rs-fMRI Study of Preschool Children with Autism Spectrum Disorders

2020 ◽  
Vol 16 (7) ◽  
pp. 921-927
Author(s):  
Xiaomeng Li ◽  
Longlun Wang ◽  
Bin Qin ◽  
Yun Zhang ◽  
Zhiming Zhou ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Preschool Children ◽  
Theoretical Analysis ◽  
Autism Spectrum ◽  
Functional Network ◽  
Brain Functional Network ◽  
Graph Theoretical Analysis ◽  
Spectrum Disorders ◽  
The Right ◽  
The Brain

Objectives: The brain functional network of autism spectrum disorders (ASDs) in the earlier stages of life has been almost unknown due to difficulties in obtaining a resting-state functional magnetic resonance imaging (rs-fMRI). This study aimed to perform rs-MRI under a sedated sleep state and reveal possible alterations in the brain functional network. Methods: Rs-fMRI was performed in a group of preschool children (aged 2–6 years, 53 with ASD, 63 as controls) under a sedated sleeping state. Based on graph theoretical analysis, global and local topological metrics were calculated to investigate alterations in brain functional networks. Besides, correlation analyses were conducted between the abnormal attribute values and the Childhood Autism Rating Scale (CARS) scores. Results: The graph theoretical analysis showed that the nodal degree of the right medial frontal gyrus and the nodal efficiency of the right lingual gyrus in the ASD group were higher than those in the control group (P<0.05). There was a statistically significant positive correlation (R=0.318, P<0.05) between the right midfrontal gyrus nodal degree values and CARS scores in the ASD patients. Conclusion: Alterations of some nodal attributes in the brain network occurred in preschool autistic children which could serve as potential imaging biomarkers for evaluating ASD in earlier stages.

scholarly journals Gotowość do zmiany formy nauczania dzieci ze spektrum autyzmu

2021 ◽  
pp. 87-112
Author(s):  
Katarzyna Ferszt-Piłat
Keyword(s):  
Autism Spectrum Disorders ◽  
Special Needs ◽  
Education System ◽  
Readiness To Change ◽  
Children With Autism ◽  
Autism Spectrum ◽  
Scientific Discourse ◽  
Therapeutic Procedure ◽  
Spectrum Disorders ◽  
The Right

The article deals with the issue of readiness to change the form of teaching of children with autism spectrum disorders and is an attempt to answer questions about the methods of therapy and education of these people. The VB-MAPP Program will be presented as a example of a comprehensive diagnostic and therapeutic procedure that facilitates making a professional decision to change the form of teaching. Considerations are to be accompanied by an issue that is more and more often present in the scientific discourse and among practitioners, teachers, therapists and parents: Is the education system in Poland responding to the special needs of children and is inclusion always the right way?

scholarly journals Alterations of Regional Homogeneity in Preschool Boys With Autism Spectrum Disorders

2021 ◽  
Vol 15 ◽  
Author(s):  
Zhihong Lan ◽  
Shoujun Xu ◽  
Yunfan Wu ◽  
Likun Xia ◽  
Kelei Hua ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Rating Scale ◽  
Brain Activity ◽  
Brain Regions ◽  
Autism Spectrum ◽  
Regional Homogeneity ◽  
Angular Gyrus ◽  
Spectrum Disorders ◽  
Preschool Boys ◽  
The Right

ObjectivesThe study was aimed at investigating the alterations of local spontaneous brain activity in preschool boys with autism spectrum disorders (ASD).MethodsBased on regional homogeneity (ReHo), the acquired resting state functional magnetic resonance imaging (fMRI) data sets, which included 86 boys with ASD and 54 typically developing (TD) boys, were used to detect regional brain activity. Pearson correlation analysis was used to study the relationship between abnormal ReHo value and the Childhood Autism Rating Scale (CARS), Autism Behavior Checklist (ABC), developmental quotient, and age.ResultsIn the ASD group, we found increased ReHo in the right calcarine as well as decreased ReHo in the opercular part of the left inferior frontal gyrus, the left middle temporal gyrus, the left angular gyrus, and the right medial orbital frontal cortex (p &lt; 0.05, false discovery rate correction). We did not find a correlation between the results of brain regions and the CARS, ABC, and age.ConclusionsOur study found spontaneous activity changes in multiple brain regions, especially the visual and language-related areas of ASD, that may help to further understand the clinical characteristics of boys with ASD.

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