RESUMEN
PURPOSE: ANSD refers to a group of auditory diseases demonstrating intact outer hair cells and desynchronized neural firings of the auditory nerve. A cochlear implant is a promising intervention strategy for severe to profound sensorineural hearing loss (SNHL). However, due to its variable outcomes in children with ANSD, a consensus has yet to be reached on its performance. This study aimed to review the literature to determine the efficacy of cochlear implants in children with ANSD and to determine prognostic indicators. The study identifies the pre-operative and post-operative predictors of success for CI in children with ANSD. METHOD: The review was carried out using PRISMA guidelines. This resulted in 9630 topic-related articles. Among these, 17 articles met the inclusion and exclusion criteria that were included for the study. The quality and potential risks associated with each article were evaluated using the quality impact assessment protocol (QUIPS) tool. RESULTS: A review of 17 articles was conducted to highlight these predictors. Most selected studies included case reports, case series, cohorts, and comparisons between children with ANSD and SNHL. Assessment of study quality reported an overall low risk of bias. The overall result showed cochlear implant would be an effective option for children with ANSD. However, there are specific prognostic indicators about which clinician needs to be aware before recommending CI for children with ANSD. Our review study identified a set of pre-operative and post-operative indicators that predicted speech and auditory performance and gave some insight into the lesion site in ANSD individuals. CONCLUSION: This review concludes CI is an effective option for children with ANSD. However, before recommending CI, a detailed assessment is required from different perspectives, which could serve as predictors of postoperative outcomes. This review highlights the need to include more precise tools, such as genetic testing to describe the lesion site to choose the most appropriate management strategy for children with ANSD. Knowledge about the prognostic indicators and the effective assessment protocols would help clinicians for the better candidacy selection.
RESUMEN
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.