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- 저자 : Kaf Wafaa A. (검색결과 1 건)
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Kaf Wafaa A.,Reiter Samantha,Brodeur Amanda,White-Minnis Letitia,Deal William 대한청각학회 2023 Journal of Audiology & Otology Vol.27 No.3
In this study, we report our findings of comprehensive evaluation in a man with syndromic craniofacial features, cognitive impairment, and hearing loss. The patient underwent psychological and genetic testing and screening for 133 genetic mutations associated with hearing loss, as well as extensive audiological evaluation to assess the auditory pathway between the middle ear and the auditory cortex. Psychological testing showed moderate cognitive impairment. Genetic testing did not reveal a genetic mutation for hearing loss. Audiological evaluation revealed mixed hearing loss and signs of auditory neuropathy spectrum disorder (ANSD) despite absence of otoacoustic emissions and an absent click-evoked auditory brainstem response (ABR) without recording of cochlear microphonics (CM). ANSD was characterized by abnormal speech discrimination, bilateral robust CM to 2,000 Hz tone-burst (TB) ABR, and abnormal left thalamocortical and cortical pathways diagnosed based on auditory middle latency and cortical N1-P2 responses. These behavioral and electrophysiological findings suggest post-synaptic ANSD at the brainstem level. An abnormal left thalamocortical auditory pathway may be attributable to the combined effect of lack of neural synchrony secondary to ANSD mainly on the left and/or brain injury. The findings in this study support the use of TB ABR and auditory cortical potentials in the ANSD test protocol and in patients with craniofacial anomalies.
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