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Audiological Profiling and Rehabilitation Outcomes in a Child With Johanson-Blizzard Syndrome
Raza Aiza Fatima,Paudel Dilli Raj,Nisha Kavassery Venkateswaran 대한청각학회 2022 Journal of Audiology & Otology Vol.26 No.3
Johanson Blizzard syndrome (JBS) is an autosomal recessive disorder that shows a multi-faceted impact on almost all body functions, including speech and hearing. This case presentation describes the comprehensive audiological and rehabilitative profile of an 8-year-old female child with JBS while correlating the test results to the physiological aspects of hearing. Case history revealed poor developmental motor skills, delayed speech and language development with hypothyroidism, and dysmorphic facial features including low bat ears, micrognathia, high arched palate, and hypoplasia of nasal alae. Conditioned pure-tone audiometric responses revealed profound hearing loss of cochlear origin in both ears, which was substantiated with bilateral A-type tympanogram in immittance evaluation. Otoacoustic emissions and auditory brain stem response were absent in both ears, consistent with the audiometric findings. Rehabilitation attempts with a cochlear implant and hearing aid in the opposite ears showed differential improvements, which were in harmony with the aided thresholds. The physiological basis for each finding and future implications are discussed.
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