Dataset Information

The oxytocin receptor gene predicts brain activity during an emotion recognition task in autism.

ABSTRACT: Background:Autism is a highly varied and heritable neurodevelopmental condition, and common variants explain approximately 50% of the genetic variance of autism. One of the genes implicated in autism is the oxytocin receptor (OXTR). The current study combined genetic and brain imaging (fMRI) data to examine the moderating effect of genotype on the association between diagnosis and brain activity in response to a test of cognitive empathy. Methods:Participants were adolescents (mean age?=?14.7?±?1.7) who were genotyped for single nucleotide polymorphisms (SNPs) within the OXTR and underwent functional brain imaging while completing the adolescent version of the 'Reading the Mind in the Eyes' Test (Eyes Test). Results:Two (rs2254298, rs53576) of the five OXTR SNPs examined were significantly associated with brain activity during the Eyes Test, and three of the SNPs (rs2254298, rs53576, rs2268491) interacted with diagnostic status to predict brain activity. All of the effects localized to the right supramarginal gyrus (rSMG) and an overlap analysis revealed a large overlap of the effects. An exploratory analysis showed that activity within an anatomically defined rSMG and genotype can predict diagnostic status with reasonable accuracy. Conclusions:This is one of the first studies to investigate OXTR and brain function in autism. The findings suggest a neurogenetic mechanism by which OXTR-dependent activity within the rSMG is related to the aetiology of autism.

SUBMITTER: Uzefovsky F

PROVIDER: S-EPMC6419364 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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The oxytocin receptor gene predicts brain activity during an emotion recognition task in autism.

Uzefovsky Florina F Bethlehem Richard A I RAI Shamay-Tsoory Simone S Ruigrok Amber A Holt Rosemary R Spencer Michael M Chura Lindsay L Warrier Varun V Chakrabarti Bhismadev B Bullmore Ed E Suckling John J Floris Dorothea D Baron-Cohen Simon S

Molecular autism 20190312

<h4>Background</h4>Autism is a highly varied and heritable neurodevelopmental condition, and common variants explain approximately 50% of the genetic variance of autism. One of the genes implicated in autism is the oxytocin receptor (<i>OXTR</i>). The current study combined genetic and brain imaging (fMRI) data to examine the moderating effect of genotype on the association between diagnosis and brain activity in response to a test of cognitive empathy.<h4>Methods</h4>Participants were adolescen ...[more]

PMID: 30918622

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Project description:BACKGROUND:Several studies have shown that facial attention differs in children with autism. Measuring eye gaze and emotion recognition in children with autism is challenging, as standard clinical assessments must be delivered in clinical settings by a trained clinician. Wearable technologies may be able to bring eye gaze and emotion recognition into natural social interactions and settings. OBJECTIVE:This study aimed to test: (1) the feasibility of tracking gaze using wearable smart glasses during a facial expression recognition task and (2) the ability of these gaze-tracking data, together with facial expression recognition responses, to distinguish children with autism from neurotypical controls (NCs). METHODS:We compared the eye gaze and emotion recognition patterns of 16 children with autism spectrum disorder (ASD) and 17 children without ASD via wearable smart glasses fitted with a custom eye tracker. Children identified static facial expressions of images presented on a computer screen along with nonsocial distractors while wearing Google Glass and the eye tracker. Faces were presented in three trials, during one of which children received feedback in the form of the correct classification. We employed hybrid human-labeling and computer vision-enabled methods for pupil tracking and world-gaze translation calibration. We analyzed the impact of gaze and emotion recognition features in a prediction task aiming to distinguish children with ASD from NC participants. RESULTS:Gaze and emotion recognition patterns enabled the training of a classifier that distinguished ASD and NC groups. However, it was unable to significantly outperform other classifiers that used only age and gender features, suggesting that further work is necessary to disentangle these effects. CONCLUSIONS:Although wearable smart glasses show promise in identifying subtle differences in gaze tracking and emotion recognition patterns in children with and without ASD, the present form factor and data do not allow for these differences to be reliably exploited by machine learning systems. Resolving these challenges will be an important step toward continuous tracking of the ASD phenotype.

Dataset Information

The oxytocin receptor gene predicts brain activity during an emotion recognition task in autism.

Publications

The oxytocin receptor gene predicts brain activity during an emotion recognition task in autism.

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