Abstract

BackgroundSocial impairments are described as a common feature of the 22q11.2 deletion syndrome (22q11DS). However, the neural correlates underlying these impairments are largely unknown in this population. In this study, we investigated neural substrates of socio-emotional perception.MethodsWe used event-related functional magnetic resonance imaging (fMRI) to explore neural activity in individuals with 22q11DS and healthy controls during the visualization of stimuli varying in social (social or non-social) or emotional (positive or negative valence) content.ResultsNeural hyporesponsiveness in regions of the default mode network (inferior parietal lobule, precuneus, posterior and anterior cingulate cortex and frontal regions) in response to social versus non-social images was found in the 22q11DS population compared to controls. A similar pattern of activation for positive and negative emotional processing was observed in the two groups. No correlation between neural activation and social functioning was observed in patients with the 22q11DS. Finally, no social × valence interaction impairment was found in patients.ConclusionsOur results indicate atypical neural correlates of social perception in 22q11DS that appear to be independent of valence processing. Abnormalities in the social perception network may lead to social impairments observed in 22q11DS individuals.

Highlights

  • Social impairments are described as a common feature of the 22q11.2 deletion syndrome (22q11DS)

  • Face perception is mainly associated with increased activity in the fusiform face area, visual extrastriate cortex, lateral occipital gyri, anterior temporal pole, and posterior superior temporal gyrus [10, 11]

  • The presence of a 22q11.2 microdeletion was confirmed in all participants using quantitative fluorescent polymerase chain reaction (QF-PCR)

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Summary

Introduction

Social impairments are described as a common feature of the 22q11.2 deletion syndrome (22q11DS). The neural correlates underlying these impairments are largely unknown in this population. We investigated neural substrates of socio-emotional perception. Individuals with 22q11DS are described as shy, withdrawn, and presenting social interaction problems with their peers [4,5,6]. Only a few neuroimaging studies have investigated the neural correlates of socio-cognitive processes in the 22q11DS population to better understand the emergence of social deficits associated with the Social perception encompasses the processing of various social cues that individuals encounter in everyday life (e.g. face and voice). Social cue perception has been mostly investigated through face perception. The processing of emotional information in faces involves a similar network as emotion perception (see below), including limbic regions, inferior frontal gyrus, medial prefrontal gyrus, and putamen [11,12,13]

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