Carlos Ribeiro

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

OBJECTIVES 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. METHODS 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. RESULTS In 35% of the cases, deafness was clearly associated to DFNB1. The most common mutated allele was c.35delG (85%). Other variants have also been found, namely p.Gly130Ala, p.Asn206Ser, p.Val37Ile, p.Glu47X, p.Arg184Trp, p.Trp24X and the two common GJB6 deletions, del(GJB6-D13S1854) and del(GJB6-D13S1830), the last one identified for the first time in our population. Regarding the oral outcome, after testing the homogeneity of the two groups it could be observed that, in mean, the individuals with DFNB1-associated deafness perform significantly better (p=0.012) than the individuals without DFNB1-associated deafness. DISCUSSION AND CONCLUSION This first screening of DFNB1 genes in the Portuguese CI population provides clear evidence of the high proportion of DFNB1-associated deafness amongst the Portuguese implanted individuals. DFNB1 status is significantly associated to higher oral performance scores, with DFNB1 individuals performing, on average, 6% better than the individuals without DFNB1-associated deafness.

Effectiveness of cochlear implants in children: long term results.

OBJECTIVES This study aimed to evaluate the effectiveness, according to the hearing threshold and language performance, of cochlear implants through a period of 10 or more years of follow-up. METHODS A retrospective chart review was conducted. 132 patients were selected from the childrens population that underwent cochlear implantation at the Department of Otorhinolaryngology, Centro Hospitalar e Universitário de Coimbra, from 1992 to 2001, with a minimum follow-up period of 10 years. A comparison of the pure-tone and speech audiometric thresholds between two periods (T0 and T1) was performed. T0 refers to the initial evaluation, immediately after the rehabilitation programme, within the first year after cochlear implantation. T1 refers to the most recent annual assessment, carried out in 2010 and 2011. Speech understanding was also evaluated through word and sentence recognition tests. RESULTS No statistically significant differences were found between early and late assessments, in paediatric cochlear implants users, after a 10 years period of cochlear implantation. Both speech and pure-tone audiometry seem to stabilize except for 2000 Hz where the results were even better after 10 years. Factors such as age at time of implantation, duration of deafness, aetiology and exchange of the speech processor do not seem to have a role in auditory performance after a long rehabilitation period. In tests of verbal discrimination rates of words and phrases recognition were of 84.6% and 65.1%, respectively. CONCLUSIONS Cochlear implant is an effective treatment for severe to profound hearing loss in children, contributing to a hearing performance and an appropriate language acquisition, currently comparable to normal hearing children. These benefits appear to keep stable over the years. No deterioration was identified.

Cochlear implant rehabilitation outcomes in Waardenburg syndrome children

OBJECTIVES The purpose of this study was to review the outcomes of children with documented Waardenburg syndrome implanted in the ENT Department of Centro Hospitalar de Coimbra, concerning postoperative speech perception and production, in comparison to the rest of non-syndromic implanted children. METHODS A retrospective chart review was performed for children congenitally deaf who had undergone cochlear implantation with multichannel implants, diagnosed as having Waardenburg syndrome, between 1992 and 2011. Postoperative performance outcomes were assessed and confronted with results obtained by children with non-syndromic congenital deafness also implanted in our department. Open-set auditory perception skills were evaluated by using European Portuguese speech discrimination tests (vowels test, monosyllabic word test, number word test and words in sentence test). Meaningful auditory integration scales (MAIS) and categories of auditory performance (CAP) were also measured. Speech production was further assessed and included results on meaningful use of speech Scale (MUSS) and speech intelligibility rating (SIR). RESULTS To date, 6 implanted children were clinically identified as having WS type I, and one met the diagnosis of type II. All WS children received multichannel cochlear implants, with a mean age at implantation of 30.6±9.7months (ranging from 19 to 42months). Postoperative outcomes in WS children were similar to other nonsyndromic children. In addition, in number word and vowels discrimination test WS group showed slightly better performances, as well as in MUSS and MAIS assessment. CONCLUSIONS Our study has shown that cochlear implantation should be considered a rehabilitative option for Waardenburg syndrome children with profound deafness, enabling the development and improvement of speech perception and production abilities in this group of patients, reinforcing their candidacy for this audio-oral rehabilitation method.

COCHLEAR IMPLANTS AND TELEPHONE USE: PERFORMANCE ASSESSMENT IN ADULT PATIENTS

Introduccion: El uso de telefono en la comunicacion diaria por los pacientes con perdida auditiva profunda, a los que se habia insertado el implante coclear, y la interaccion social de dichos pacientes, permite aumentar su independencia y su autoestima. El uso de telefono es una habilidad, en la que, por definicion, se entiende el habla sin ayuda de lectura de labios y sin otras senales visuales.

Auditory rehabilitation after cochlear implantation in adults with hearing impairment after head trauma

Abstract Introduction In this paper, the authors analyze the auditory rehabilitation after cochlear implantation in adults with hearing impairment after head trauma, comparing their performance with that of other cochlear implant (CI) adult users who have post-lingual hearing impairment with other etiologies. Methods The participants were divided into two groups: group 1 (N = 14) composed of CI adult users who have acquired severe to profound hearing loss after head trauma; group 2 (N = 231) composed of CI adult users who have severe to profound hearing loss from other etiologies. Performance was assessed using the following tests: tonal audiometry, speech audiometry, consonantal phonemes identification test, 100 words test, 100 words through the telephone test, monosyllables test, numbers test, sentences test, and sentences through the telephone test. Results Average results from group 1 were lower when compared with those of group 2 in all the tests used. No statistically significant difference was found for most tests. Statistically significant difference was found for consonantal phonemes identification test, 100 words through the telephone test, monosyllables test (when analyzed regarding the phonemes correctly repeated), and sentences through the telephone test. Discussion The performance of the group of CI adult users who have acquired hearing impairment after head trauma was globally lower than that observed on the group of hearing impairment with other etiologies. However, the difference was not statistically significant for most tests. Despite this difference in performance, the results from the group of CI adult users who have acquired hearing impairment after head trauma show the effectiveness of auditory rehabilitation through cochlear implantation in these situations.