DFNB1-associated deafness in Portuguese cochlear implant users: prevalence and impact on oral outcome

International Journal of Pediatric Otorhinolaryngology
Joana Rita Gaspar de Barros Martinho ChoraMaria Helena de Figueiredo Ramos Caria

Abstract

Hearing loss is a condition that interferes with the development of the child at a cognitive and language level. Therefore, early diagnosis of deafness is important for (re)habilitation, namely through the use of cochlear implant (CI). The present study aimed at screening CI Portuguese individuals for the presence of mutations in the genes GJB2 and GJB6 (DFNB1 locus), and searching a possible correlation between the genotype and the oral habilitation outcome following implantation. Our sample included 117 CI individuals implanted longer than 5 years. Sequencing of GJB2 entire coding region was first performed. The presence of deletions del(GJB6-D13S1830) and del(GJB6-D13S1854) was subsequently tested by multiplex PCR. To assess the oral outcome of these individuals, a global score is calculated through a formula that integrates the results of a battery of speech and audiological tests routinely used in ORL services. This global oral performance score was used to test whether individuals with DFNB1-associated deafness perform significantly better than individuals without DFNB1-associated deafness. In 35% of the cases, deafness was clearly associated to DFNB1. The most common mutated allele was c.35delG (85%). Other variants have...Continue Reading

Citations

May 24, 2013·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·L VargaM Profant
Jan 9, 2013·European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : Affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery·Yu-jun YanHao Wu
Mar 13, 2013·Auris, Nasus, Larynx·Haruo YoshidaShin-Ichi Usami
Sep 15, 2012·Hearing Research·Robert W EppsteinerRichard J H Smith
Jun 30, 2012·International Journal of Pediatric Otorhinolaryngology·Jane BlackBruce Black
Jan 28, 2012·International Journal of Pediatric Otorhinolaryngology·Gabriel MinárikLudevít Kádasi
Oct 18, 2012·Case Reports in Genetics·Joana Rita ChoraHelena Caria
May 15, 2013·International Journal of Audiology·Tiago Daniel MatosGraça Fialho
Jul 17, 2013·International Journal of Pediatric Otorhinolaryngology·Zied RiahiSonia Abdelhak
Apr 3, 2014·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Todor Miroslavov PopovDiana Petrova Popova

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