Dépouillements

Social and monetary reward processing in autism spectrum disorders / Sonja DELMONTE in Molecular Autism, (September 2012)  

Public ISBD [article]  inMolecular Autism > (September 2012) . - 13 p. Titre : Social and monetary reward processing in autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Sonja DELMONTE, Auteur ; Joshua H. BALSTERS, Auteur ; Jane MCGRATH, Auteur ; Jacqueline FITZGERALD, Auteur ; Sean BRENNAN, Auteur ; Andrew J. FAGAN, Auteur ; Louise GALLAGHER, Auteur Année de publication : 2012 Article en page(s) : 13 p. Langues : Anglais (eng) Mots-clés : Autism  Reward  Social motivation  Striatum  Functional magnetic resonance imaging  fMRI Index. décimale : PER Périodiques Résumé : Background Social motivation theory suggests that deficits in social reward processing underlie social impairments in autism spectrum disorders (ASD). However, the extent to which abnormalities in reward processing generalize to other classes of stimuli remains unresolved. The aim of the current study was to examine if reward processing abnormalities in ASD are specific to social stimuli or can be generalized to other classes of reward. Additionally, we sought to examine the results in the light of behavioral impairments in ASD. Methods Participants performed adapted versions of the social and monetary incentive delay tasks. Data from 21 unmedicated right-handed male participants with ASD and 21 age- and IQ-matched controls were analyzed using a factorial design to examine the blood-oxygen-level-dependent (BOLD) response during the anticipation and receipt of both reward types. Results Behaviorally, the ASD group showed less of a reduction in reaction time (RT) for rewarded compared to unrewarded trials than the control group. In terms of the fMRI results, there were no significant group differences in reward circuitry during reward anticipation. During the receipt of rewards, there was a significant interaction between group and reward type in the left dorsal striatum (DS). The ASD group showed reduced activity in the DS compared to controls for social rewards but not monetary rewards and decreased activation for social rewards compared to monetary rewards. Controls showed no significant difference between the two reward types. Increased activation in the DS during social reward processing was associated with faster response times for rewarded trials, compared to unrewarded trials, in both groups. This is in line with behavioral results indicating that the ASD group showed less of a reduction in RT for rewarded compared to unrewarded trials. Additionally, de-activation to social rewards was associated with increased repetitive behavior in ASD. Conclusions In line with social motivation theory, the ASD group showed reduced activation, compared to controls, during the receipt of social rewards in the DS. Groups did not differ significantly during the processing of monetary rewards. BOLD activation in the DS, during social reward processing, was associated with behavioral impairments in ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-3-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=201 [article] Social and monetary reward processing in autism spectrum disorders [Texte imprimé et/ou numérique] / Sonja DELMONTE, Auteur ; Joshua H. BALSTERS, Auteur ; Jane MCGRATH, Auteur ; Jacqueline FITZGERALD, Auteur ; Sean BRENNAN, Auteur ; Andrew J. FAGAN, Auteur ; Louise GALLAGHER, Auteur . - 2012 . - 13 p. Langues : Anglais (eng) in Molecular Autism > (September 2012) . - 13 p. Mots-clés : Autism  Reward  Social motivation  Striatum  Functional magnetic resonance imaging  fMRI Index. décimale : PER Périodiques Résumé : Background Social motivation theory suggests that deficits in social reward processing underlie social impairments in autism spectrum disorders (ASD). However, the extent to which abnormalities in reward processing generalize to other classes of stimuli remains unresolved. The aim of the current study was to examine if reward processing abnormalities in ASD are specific to social stimuli or can be generalized to other classes of reward. Additionally, we sought to examine the results in the light of behavioral impairments in ASD. Methods Participants performed adapted versions of the social and monetary incentive delay tasks. Data from 21 unmedicated right-handed male participants with ASD and 21 age- and IQ-matched controls were analyzed using a factorial design to examine the blood-oxygen-level-dependent (BOLD) response during the anticipation and receipt of both reward types. Results Behaviorally, the ASD group showed less of a reduction in reaction time (RT) for rewarded compared to unrewarded trials than the control group. In terms of the fMRI results, there were no significant group differences in reward circuitry during reward anticipation. During the receipt of rewards, there was a significant interaction between group and reward type in the left dorsal striatum (DS). The ASD group showed reduced activity in the DS compared to controls for social rewards but not monetary rewards and decreased activation for social rewards compared to monetary rewards. Controls showed no significant difference between the two reward types. Increased activation in the DS during social reward processing was associated with faster response times for rewarded trials, compared to unrewarded trials, in both groups. This is in line with behavioral results indicating that the ASD group showed less of a reduction in RT for rewarded compared to unrewarded trials. Additionally, de-activation to social rewards was associated with increased repetitive behavior in ASD. Conclusions In line with social motivation theory, the ASD group showed reduced activation, compared to controls, during the receipt of social rewards in the DS. Groups did not differ significantly during the processing of monetary rewards. BOLD activation in the DS, during social reward processing, was associated with behavioral impairments in ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-3-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=201

Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder / Karyn M. STEINBERG in Molecular Autism, (September 2012)  

Public ISBD [article]  inMolecular Autism > (September 2012) . - 12 p. Titre : Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Karyn M. STEINBERG, Auteur ; Dhanya RAMACHANDRAN, Auteur ; Viren C. PATEL, Auteur ; Amol C. SHETTY, Auteur ; David J. CUTLER, Auteur ; Michael E. ZWICK, Auteur Année de publication : 2012 Article en page(s) : 12 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Massively parallel DNA sequencing  Rare variation  Evolutionary conservation Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorder (ASD) is highly heritable, but the genetic risk factors for it remain largely unknown. Although structural variants with large effect sizes may explain up to 15% ASD, genome-wide association studies have failed to uncover common single nucleotide variants with large effects on phenotype. The focus within ASD genetics is now shifting to the examination of rare sequence variants of modest effect, which is most often achieved via exome selection and sequencing. This strategy has indeed identified some rare candidate variants; however, the approach does not capture the full spectrum of genetic variation that might contribute to the phenotype. Methods We surveyed two loci with known rare variants that contribute to ASD, the X-linked neuroligin genes by performing massively parallel Illumina sequencing of the coding and noncoding regions from these genes in males from families with multiplex autism. We annotated all variant sites and functionally tested a subset to identify other rare mutations contributing to ASD susceptibility. Results We found seven rare variants at evolutionary conserved sites in our study population. Functional analyses of the three 3’ UTR variants did not show statistically significant effects on the expression of NLGN3 and NLGN4X. In addition, we identified two NLGN3 intronic variants located within conserved transcription factor binding sites that could potentially affect gene regulation. Conclusions These data demonstrate the power of massively parallel, targeted sequencing studies of affected individuals for identifying rare, potentially disease-contributing variation. However, they also point out the challenges and limitations of current methods of direct functional testing of rare variants and the difficulties of identifying alleles with modest effects. En ligne : http://dx.doi.org/10.1186/2040-2392-3-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=201 [article] Identification of rare X-linked neuroligin variants by massively parallel sequencing in males with autism spectrum disorder [Texte imprimé et/ou numérique] / Karyn M. STEINBERG, Auteur ; Dhanya RAMACHANDRAN, Auteur ; Viren C. PATEL, Auteur ; Amol C. SHETTY, Auteur ; David J. CUTLER, Auteur ; Michael E. ZWICK, Auteur . - 2012 . - 12 p. Langues : Anglais (eng) in Molecular Autism > (September 2012) . - 12 p. Mots-clés : Autism spectrum disorder  Massively parallel DNA sequencing  Rare variation  Evolutionary conservation Index. décimale : PER Périodiques Résumé : Background Autism spectrum disorder (ASD) is highly heritable, but the genetic risk factors for it remain largely unknown. Although structural variants with large effect sizes may explain up to 15% ASD, genome-wide association studies have failed to uncover common single nucleotide variants with large effects on phenotype. The focus within ASD genetics is now shifting to the examination of rare sequence variants of modest effect, which is most often achieved via exome selection and sequencing. This strategy has indeed identified some rare candidate variants; however, the approach does not capture the full spectrum of genetic variation that might contribute to the phenotype. Methods We surveyed two loci with known rare variants that contribute to ASD, the X-linked neuroligin genes by performing massively parallel Illumina sequencing of the coding and noncoding regions from these genes in males from families with multiplex autism. We annotated all variant sites and functionally tested a subset to identify other rare mutations contributing to ASD susceptibility. Results We found seven rare variants at evolutionary conserved sites in our study population. Functional analyses of the three 3’ UTR variants did not show statistically significant effects on the expression of NLGN3 and NLGN4X. In addition, we identified two NLGN3 intronic variants located within conserved transcription factor binding sites that could potentially affect gene regulation. Conclusions These data demonstrate the power of massively parallel, targeted sequencing studies of affected individuals for identifying rare, potentially disease-contributing variation. However, they also point out the challenges and limitations of current methods of direct functional testing of rare variants and the difficulties of identifying alleles with modest effects. En ligne : http://dx.doi.org/10.1186/2040-2392-3-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=201