Hipoacusia de causa genética en cubanos con implante coclear

Introduccion: la hipoacusia neurosensorial es la forma mas comun de deficit auditivo. Presenta gran heterogeneidad clinica y etiologica; la frecuencia relativa de su causa varia de acuerdo con el metodo de estudio empleado. El implante coclear es el tratamiento mas eficaz en la hipoacusia neurosensorial bilateral profunda. Objetivos: identificar las causas de la hipoacusia en pacientes cubanos con implante coclear y describir sus caracteristicas clinicas. Material y Metodo: se realizo un estudio descriptivo transversal en el periodo septiembre de 2012 a diciembre de 2013. Se evaluaron clinicamente ninos y adultos receptores de un implante coclear, implantados en Cuba hasta diciembre de 2012. Resultados: se identifico el origen genetico en 33.8% de los implantados; distribuidos en sindromicos y no sindromicos, en proporciones similares; en 36.4% se atribuyo un factor ambiental al origen del deficit auditivo y en 29.8% no se logro identificar su causa. El inicio y evolucion de la hipoacusia se correspondio con lo descrito para los distintos grupos etiologicos. Conclusiones: se evidencio la heterogeneidad clinica y etiologica de la hipoacusia neurosensorial en los implantados, cuya evaluacion clinica es necesaria, no solo para proponer o descartar un origen genetico, sino tambien para el asesoramiento de los pacientes y las familias. Palabras clave: sordera, hipoacusia, etiologia, genetica, asesoramiento genetico. ABSTRACT Introduction: neurosensory hearing loss is the most frequent auditory disability. It has great clinical and etiologic heterogeneity; its relative etiology frequency may vary depending upon the study method. Cochlear implantation is the most efficient treatment for bilateral and profound neurosensory hearing loss. Objectives : to identify causes of Neurosensory hearing lost in Cuban patients with Cochlear implantation and to describe its clinical features. Material and Methods: a transversal descriptive study was performed between September 2012 and December 2013. Children and adults with Cochlear implantation, implanted in Cuba until 2012 were clinically studied. Results: genetic origin was identified in 33.8% of the implanted patients; syndromic and nonsyndromic forms had similar proportions. In 36.4% an environmental factor was attributed to cause the hearing deficiency and in 29.8% the origin was not identified. The onset and evolution of the hearing loss behaved as described in different etiologic groups. Conclusion: clinical and etiological heterogeneity was evident among patients with Cochlear implantation; clinical assessment is necessary to establish genetic origin and provide genetic counseling to patients and their family. Key words: Deafness, etiology, genetics, Neurosensory, Genetic Counseling.