Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude

DSpace/Manakin Repository

Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude

Citable link to this page

 

 
Title: Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude
Author: LeBlanc, Jocelyn J.; Nelson, Charles A.

Note: Order does not necessarily reflect citation order of authors.

Citation: LeBlanc, Jocelyn J., and Charles A. Nelson. 2016. “Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude.” Molecular Autism 7 (1): 30. doi:10.1186/s13229-016-0095-7. http://dx.doi.org/10.1186/s13229-016-0095-7.
Full Text & Related Files:
Abstract: Background: Duplication and deletion of the chromosomal region 16p11.2 cause a broad range of impairments, including intellectual disability, language disorders, and sensory symptoms. However, it is unclear how changes in 16p11.2 dosage affect cortical circuitry during development. The aim of this study was to investigate whether the visual evoked potential (VEP) could be used as a noninvasive quantitative measure of cortical processing in children with 16p11.2 copy number variation. Methods: Pattern-reversal VEPs were successfully recorded in 19 deletion carriers, 9 duplication carriers, and 13 typically developing children between the ages of 3 and 14 years. The stimulus was a black and white checkerboard (60’) that reversed contrast at 2 Hz. VEP responses were extracted from continuous EEG recorded using a high-density elasticized electrode net. Results: Quantitative analysis of the VEP waveform revealed that, relative to controls, deletion carriers displayed increased amplitude and duplication carriers displayed diminished amplitude. Latencies of the VEP waveform components were unaffected by 16p11.2 status. P1 amplitude did not correlate with age, IQ, or head circumference. Conclusions: The results of this study suggest that recording VEP is a useful method to assay cortical processing in children with 16p11.2 copy number variation. There is a gene dosage-dependent effect on P1 amplitude that merits further investigation. The VEP is directly translatable to animal models, offering a promising way to probe the neurobiological mechanisms underlying cortical dysfunction in this developmental disorder.
Published Version: doi:10.1186/s13229-016-0095-7
Other Sources: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4924305/pdf/
Terms of Use: This article is made available under the terms and conditions applicable to Other Posted Material, as set forth at http://nrs.harvard.edu/urn-3:HUL.InstRepos:dash.current.terms-of-use#LAA
Citable link to this page: http://nrs.harvard.edu/urn-3:HUL.InstRepos:27662302
Downloads of this work:

Show full Dublin Core record

This item appears in the following Collection(s)

 
 

Search DASH


Advanced Search
 
 

Submitters