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Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications
BACKGROUND: 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). However, little is known about the social brain phenotype of 16p11.2 CNV and how this phenoty...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4514956/ https://www.ncbi.nlm.nih.gov/pubmed/26213586 http://dx.doi.org/10.1186/s11689-015-9118-5 |
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author | Hudac, Caitlin M. Kresse, Anna Aaronson, Benjamin DesChamps, Trent D. Webb, Sara Jane Bernier, Raphael A. |
author_facet | Hudac, Caitlin M. Kresse, Anna Aaronson, Benjamin DesChamps, Trent D. Webb, Sara Jane Bernier, Raphael A. |
author_sort | Hudac, Caitlin M. |
collection | PubMed |
description | BACKGROUND: 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). 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. METHODS: We 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. RESULTS: Overall, 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. CONCLUSIONS: These 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 MATERIAL: The online version of this article (doi:10.1186/s11689-015-9118-5) contains supplementary material, which is available to authorized users. |
format | Online Article Text |
id | pubmed-4514956 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-45149562015-07-26 Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications Hudac, Caitlin M. Kresse, Anna Aaronson, Benjamin DesChamps, Trent D. Webb, Sara Jane Bernier, Raphael A. J Neurodev Disord Research BACKGROUND: 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). 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. METHODS: We 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. RESULTS: Overall, 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. CONCLUSIONS: These 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 MATERIAL: The online version of this article (doi:10.1186/s11689-015-9118-5) contains supplementary material, which is available to authorized users. BioMed Central 2015-07-24 2015 /pmc/articles/PMC4514956/ /pubmed/26213586 http://dx.doi.org/10.1186/s11689-015-9118-5 Text en © Hudac et al. 2015 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Research Hudac, Caitlin M. Kresse, Anna Aaronson, Benjamin DesChamps, Trent D. Webb, Sara Jane Bernier, Raphael A. Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications |
title | Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications |
title_full | Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications |
title_fullStr | Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications |
title_full_unstemmed | Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications |
title_short | Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications |
title_sort | modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4514956/ https://www.ncbi.nlm.nih.gov/pubmed/26213586 http://dx.doi.org/10.1186/s11689-015-9118-5 |
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