Estudo de família brasileira portadora de deficiência auditiva sensorioneural não-sindrômica com herança mitocondrial

Abstract

We hereby report on the audiological and genetic findings in individuals from a Brazilian family, with the following mitochondrial mutation A1555G in the 12SrRNA gene (MT-RNR-1). Nine individuals underwent speech, audiologic (tonal audiometry and logoaudiometry) and genetic evaluations. Eight individuals among the A1555G carriers were affected by hearing impairment and one person had normal hearing thresholds till the end of the present study. The audiologic evaluation results indicated normal hearing thresholds all the way to bilateral profound hearing loss with post-lingual onset and variable configuration. Two affected siblings presented progressive hearing loss. It was impossible to precise the time of hearing loss onset; however, the impairment was present in both children and adults. The genetic study revealed the A1555G mitochondrial mutation

Hearing Aid Fitting Protocols for Adults and Elderly Individuals

“…Research of tone hearing thresholds must be performed in the programming adjustors, and it is important to select hearing aids with a wide amplification band for the necessary adjustments. • Family history: It is estimated that 16% of the cases of deafness in Brazil have confirmed genetic causes (19). Therefore, individuals with previous family histories for hearing loss must be guided and assisted with regard to the genetic component in the family, as well as have a multidisciplinary follow-up to prevent and detect other likely cases.…”