TY - JOUR
T1 - Early and late auditory information processing show opposing deviations in aniridia
AU - Bobilev, Anastasia M.
AU - Hudgens-Haney, Matthew E.
AU - Hamm, Jordan P.
AU - Oliver, William T.
AU - McDowell, Jennifer E.
AU - Lauderdale, James D.
AU - Clementz, Brett A.
N1 - Funding Information:
This work was supported by a grant from the Sharon Stewart Aniridia Research Trust . The funding organization had no role in the study design, data collection, analysis or interpretation of data, writing of the manuscript draft or decision to publish.
Funding Information:
AB was supported by a graduate fellowship from the John and Mary Franklin Foundation Neuroimaging Training Program and is an ARCS Scholar. Collection of EEG imaging data was made possible by the University of Georgia BioImaging Research Center. The authors wish to thank Ms. Kimberly Mason of the BioImaging Research Center for her organizational assistance, Ms. Madison Grant for helpful discussions and assistance with preparing figures, Ms. Jill Nerby in her capacity as Director and Founder of Aniridia Foundation International, and the participants in this study for their support of this research.
Publisher Copyright:
© 2019 Elsevier B.V.
PY - 2019/10/1
Y1 - 2019/10/1
N2 - Aniridia is a congenital disorder, predominantly caused by heterozygous mutations of the PAX6 gene. While ocular defects have been extensively characterized in this population, brain-related anatomical and functional abnormalities are emerging as a prominent feature of the disorder. Individuals with aniridia frequently exhibit auditory processing deficits despite normal audiograms. While previous studies have reported hypoplasia of the anterior commissure and corpus callosum in some of these individuals, the neurophysiological basis of these impairments remains unexplored. This study provides direct assessment of neural activity related to auditory processing in aniridia. Participants were presented with tones designed to elicit an auditory steady-state response (ASSR) at 22 Hz, 40 Hz, and 84 Hz, and infrequent broadband target tones to maintain attention during electroencephalography (EEG) recording. Persons with aniridia showed increased early cortical responses (P50 AEP) in response to all tones, and increased high-frequency oscillatory entrainment (84 Hz ASSR). In contrast, this group showed a decreased cortical integration response (P300 AEP to target tones) and reduced neural entrainment to cortical beta-band stimuli (22 Hz ASSR). Collectively, our results suggest that subcortical and early cortical auditory processing is augmented in aniridia, while functional cortical integration of auditory information is deficient in this population.
AB - Aniridia is a congenital disorder, predominantly caused by heterozygous mutations of the PAX6 gene. While ocular defects have been extensively characterized in this population, brain-related anatomical and functional abnormalities are emerging as a prominent feature of the disorder. Individuals with aniridia frequently exhibit auditory processing deficits despite normal audiograms. While previous studies have reported hypoplasia of the anterior commissure and corpus callosum in some of these individuals, the neurophysiological basis of these impairments remains unexplored. This study provides direct assessment of neural activity related to auditory processing in aniridia. Participants were presented with tones designed to elicit an auditory steady-state response (ASSR) at 22 Hz, 40 Hz, and 84 Hz, and infrequent broadband target tones to maintain attention during electroencephalography (EEG) recording. Persons with aniridia showed increased early cortical responses (P50 AEP) in response to all tones, and increased high-frequency oscillatory entrainment (84 Hz ASSR). In contrast, this group showed a decreased cortical integration response (P300 AEP to target tones) and reduced neural entrainment to cortical beta-band stimuli (22 Hz ASSR). Collectively, our results suggest that subcortical and early cortical auditory processing is augmented in aniridia, while functional cortical integration of auditory information is deficient in this population.
KW - Aniridia
KW - Auditory evoked potential
KW - Auditory steady state response
KW - Electroencephalography
KW - PAX6
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U2 - 10.1016/j.brainres.2019.146307
DO - 10.1016/j.brainres.2019.146307
M3 - Article
C2 - 31247203
AN - SCOPUS:85067870038
SN - 0006-8993
VL - 1720
JO - Brain Research
JF - Brain Research
M1 - 146307
ER -