Connexin 26 mutations in nonsyndromic autosomal recessive hearing loss: speech and hearing rehabilitation

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• 作者：Mesolella ; Massimo ; Tranchino ; Gaetano ; Nardone ; Massimiliano ; Motta ; Sergio ; Galli ; Vieri
• 关键词：Connexin 26 ; Hereditary hearing loss ; Non-syndromic recessive deafness ; Speech rehabilitation
• 刊名：International Journal of Pediatric Otorhinolaryngology
• 出版年：2004
• 出版时间：August, 2004
• 年：2004
• 卷：68
• 期：8
• 页码：995-1005
• 全文大小：717 K

文摘

Objective: 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 prelingual non-sydromic autosomal recessive hearing impairment:

• the role of the possible mutation of connexin 26 in the pathogenesis of the hearing loss;