Abstract
BackgroundCopy number variations (CNV) within the recurrent ~600 kb chromosomal locus of 16p11.2 are associated with a wide range of neurodevelopmental disorders, including autism spectrum disorder (ASD). However, little is known about the social brain phenotype of 16p11.2 CNV and how this phenotype is related to the social impairments associated with CNVs at this locus. The aim of this preliminary study was to use molecular subtyping to establish the social brain phenotype of individuals with 16p11.2 CNV and how these patterns relate to typical development and ASD.MethodsWe evaluated the social brain phenotype as expressed by mu attenuation in 48 children and adults characterized as duplication carriers (n = 12), deletion carriers (n = 12), individuals with idiopathic ASD (n = 8), and neurotypical controls (n = 16). Participants watched videos containing social and nonsocial motion during electroencephalogram (EEG) acquisition.ResultsOverall, only the typical group exhibited predicted patterns of mu modulation to social information (e.g., greater mu attenuation for social than nonsocial motion). Both 16p11.2 CNV groups exhibited more mu attenuation for nonsocial than social motion. The ASD group did not discriminate between conditions and demonstrated less mu attenuation compared to the typical and duplication carriers. Single-trial analysis indicated that mu attenuation decreased over time more rapidly for 16p11.2 CNV groups than the typical group. The duplication group did not diverge from typical patterns of mu attenuation until after initial exposure.ConclusionsThese results indicate atypical but unique patterns of mu attenuation for deletion and duplication carriers, highlighting the need to continue characterizing the social brain phenotype associated with 16p11.2 CNVs.Electronic supplementary materialThe online version of this article (doi:10.1186/s11689-015-9118-5) contains supplementary material, which is available to authorized users.
Highlights
Copy number variations (CNV) within the recurrent ~600 kb chromosomal locus of 16p11.2 are associated with a wide range of neurodevelopmental disorders, including autism spectrum disorder (ASD)
The overall population prevalence of 16p11.2 deletions and duplications is estimated at 1/1000 [5], but their prevalence is much higher in clinical populations, with both types of CNVs accounting for approximately 1 % of ASD cases [1, 2]
Even in individuals not meeting criteria for behaviorally defined ASD diagnoses, 16p11.2 CNV confers a quantitative risk to a variety of phenotypic domains [16] and to social ability [15, 17], with an observed 1.7 SD decrement in social ability relative to unaffected family members. Given this evidence of social impairments associated with 16p11.2 CNV and the hallmark social impairments in ASD [3, 5,6,7,8,9,10,11,12,13,14, 18], the social brain is an appropriate target to elucidate the relationship between genetics and
Summary
Copy number variations (CNV) within the recurrent ~600 kb chromosomal locus of 16p11.2 are associated with a wide range of neurodevelopmental disorders, including autism spectrum disorder (ASD). Such findings are thought to be evidence of an execution/observation matching system [3, 5,6,7,8,9,10,11,12,13,14, 31] that contributes to many facets of social cognition including imitation, empathy, and perception of goal-directed actions [15, 32,33,34] Impairments of this system have been associated with ASD and heterogeneity within the ASD diagnosis [5, 16, 35,36,37,38], suggesting that it may be sensitive to the deficits in social ability in 16p11.2 CNVs
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