Abstract
Hearing loss is the most common form of sensory impairment, with approximately one infant/1000 born with profound congenital deafness. A pre-lingual bilateral sensorineural hearing impairment poses a substantial problem as it negatively impacts on the subject's ability to conduct a normal social life. The aim of the study was to observe, in a group of children affected by pre-lingual non-syndromic autosomal recessive hearing impairment: (1) the role of the possible mutation of connexin 26 in the pathogenesis of the hearing loss; (2) the audiological and clinical aspects of the hearing impairment; (3) therapy to be adopted for the different patients. The study was carried out on 39 patients, 16 males and 23 females, aged between six and 17 years (mean 12 years), affected by non syndromic congenital deafness, presumably hereditary, referred to the out-patients audiology clinic for children of the Department of Otolaryngology of the Federico II University of Naples. Our study conducted on 39 children with pre-lingual bilateral sensorineural autosomal recessive deafness showed as follows: (I) from a molecular perspective: an incidence of 41% in the cases studied of mutations in the encoding of the connexin 26 gene; a prevalence in ...Continue Reading
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