Psychological testing was conducted to evaluate PR’s current cognitive status, including the intelligence quotient (IQ). A comprehensive audiological behavioral and electrophysiological assessment of the middle and inner ear and the central auditory pathway was administered to identify the possible site(s) of lesion and to determine if ANSD was present. This study examined a 53-year-old male, hereafter referred to as PR, with known mixed hearing loss, cognitive impairment, facial dysmorphology, and involvement across various systems. Therefore, these individuals should undergo comprehensive audiological evaluation, including both behavioral and electrophysiologic measures, to assess the entire auditory pathway from the middle ear to the auditory cortex. Individuals with craniofacial, syndromic features are at high risk of having auditory neuropathy spectrum disorders (ANSD) as well as auditory processing disorders that affect perceptual abilities. 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. 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. These behavioral and electrophysiological findings suggest post-synaptic ANSD at the brainstem level. 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. 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). Genetic testing did not reveal a genetic mutation for hearing loss. Psychological testing showed moderate cognitive impairment. 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. In this study, we report our findings of comprehensive evaluation in a man with syndromic craniofacial features, cognitive impairment, and hearing loss.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |