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

Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss

“…However this mutation was found exclusively in samples of Gypsy origin, where it is the most prevalent one. In Caucasian population the V37I mutation was detected as the second most prevalent; this mutation was found sporadically also in other studies on patients of Caucasian origin (Poland [30], Portugal [14], USA [31]). The 310del14 mutation was detected as the third most prevalent (3.07%); this mutation has been found also in Czech patients (as 313del14) where it reaches 3.7% [24].…”

“…Based on studies of DFNB1 associated deafness in conjunction with cochlear implantation program it seems that it is important to identify the presence of causal mutations in DFNB1 since it has impact on success of speech development and so it could be used in these cases as positive prognostic marker [14,35,36]. Therefore the need for optimal screening protocol is still an issue and is still in development according to present status of NSHL research worldwide.…”

“…Out of described mutations in GJB6 the del(GJB6-D13S1830) has been found as the second most common in Spanish population and present in Ashkenazi Jews, French and Portugal populations [11][12][13][14].…”

Speech Perception Outcomes after Cochlear Implantation in Children with GJB2/DFNB1 associated Deafness

“…A recent study of Portuguese children with cochlear implants showed that DFNB1 status is significantly associated to higher oral performance scores, i.e. 6% better than individuals without DFNB1-associated deafness (27). These different findings might be a result of the use of different tests for evaluating speech perception performance, insufficient follow-up after cochlear implantation or different criteria for inclusion or exclusion of children during the evaluation of speech perception.…”

Is deafness etiology important for prediction of functional outcomes in pediatric cochlear implantation?

“…When focusing on DFNB1 locus-related deafness, a number of papers conclude that 'connexin' etiology has no or little impact on CI outcomes [13,14]. In contrast, there is a proportional quantity of studies reporting that 'connexin' children achieve significantly better results [8,15].…”