Effect of cochlear implant in children suffering genetic hypoacusis caused by Waardenburg Syndrome and 35delG mutation

Introduction: Sensorineural hypoacusia is the most common form of hearing impairment, it is estimated that over 80% of all congenital hearing losses are from genetic origin, being distinguished in syndromic and non-syndromic; 35delG mutation is the most common cause of the first and Waardenburg syndrome (WS) is one of the most frequent in the last one; in both of them cases are usually identified patients with severe to profound hearing losses (HSP). The cochlear implant is considered an effective solution when the HSP do not get enough benefit through hearing aids. Objective: To analyze the results achieved with the use of cochlear implant in patients with HSP due to WS and 35delGmutation. Material and Methods: A descriptive cross-sectional study. Were studied patients with HSP of genetic cause, 27 due to 35delGmutation and 15 by WS. Hearing and logophoniatrics tests were performed. Results: Inner ear lesions happening in the in the studied patients it seems not affect the benefits of cochlear implant if general proper conditions are given. Conclusions: Cochlear Implant is a worthful therapeutic alternative for the hearing impaired due to these two studied illness; however, those with 35delG mutation, achieved best hearing performance categories. Keywords: deafness, hearing loss, genetics, rehabilitation, hearing impairment correction.</p

Implante coclear en niños con hipoacusia de causa genética por Síndrome Waardenburg y mutación 35delG

Introduction: Sensorineural hypoacusia is the most common form of hearing impairment, it is estimated that over 80% of all congenital hearing losses are from genetic origin, being distinguished in syndromic and non-syndromic; 35delG mutation is the most common cause of the first and Waardenburg syndrome (WS) is one of the most frequent in the last one; in both of them cases are usually identified patients with severe to profound hearing losses (HSP). The cochlear implant is considered an effective solution when the HSP do not get enough benefit through hearing aids. Objective: To analyze the results achieved with the use of cochlear implant in patients with HSP due to WS and 35delGmutation. Material and Methods: A descriptive cross-sectional study. Were studied patients with HSP of genetic cause, 27 due to 35delGmutation and 15 by WS. Hearing and logophoniatrics tests were performed. Results: Inner ear lesions happening in the in the studied patients it seems not affect the benefits of cochlear implant if general proper conditions are given. Conclusions: Cochlear Implant is a worthful therapeutic alternative for the hearing impaired due to these two studied illness; however, those with 35delG mutation, achieved best hearing performance categories. Keywords: deafness, hearing loss, genetics, rehabilitation, hearing impairment correction.Introducción: La hipoacusia neurosensorial es la forma más común de déficit auditivo, se calcula que más de 80% de todas las pérdidas auditivas congénitas son de origen genético, siendo estas distinguidas en sindrómicas y no sindrómicas; la mutación 35delG es la causa más frecuente de las primeras y el Síndrome  Waardenburg (SW) es uno de los más frecuentes en las últimas, en ambas suelen identificarse pacientes con hipoacusias de severas a profundas (HSP). El implante coclear se considera una solución eficaz cuando la HSP no obtiene suficiente beneficio mediante prótesis auditivas. Objetivo: Analizar el resultado alcanzado con el uso del implante coclear en pacientes con HSP por SW y mutación 35delG. Material y Métodos: Se realizó un estudio descriptivo transversal. Fueron estudiados pacientes con HSP de causa genética, 27 debido a la mutación 35delG y 15 por SW. Se realizaron pruebas audiológicas y logofoniátricas. Resultados: La lesión que ocurre en el oído interno en los pacientes estudiados no parece afectar los beneficios que ofrece el implante coclear, si se dan las condiciones generales adecuadas. Conclusiones: El implante coclear es una alternativa terapéutica válida para la discapacidad auditiva debido a estas dos afecciones estudiadas; sin embargo, los que presentaron la mutación 35delG, alcanzaron mejores categorías de rendimiento auditivo.Palabras claves: Sordera, pérdida auditiva, genética, rehabilitación, corrección de deficiencia auditiva