Marisa Alves

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.

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.

Evaluation protocol for amusia: portuguese sample

UNLABELLED Amusia is a disorder that affects the processing of music. Part of this processing happens in the primary auditory cortex. The study of this condition allows us to evaluate the central auditory pathways. OBJECTIVE To explore the diagnostic evaluation tests of amusia. METHOD The authors propose an evaluation protocol for patients with suspected amusia (after brain injury or complaints of poor musical perception), in parallel with the assessment of central auditory processing, already implemented in the department. The Montreal Evaluation of Battery of amusia was the basis for the selection of the tests. From this comprehensive battery of tests we selected some of the musical examples to evaluate different musical aspects, including memory and perception of music, ability concerning musical recognition and discrimination. In terms of memory there is a test for assessing delayed memory, adapted to the Portuguese culture. Prospective study. RESULTS AND CONCLUSIONS Although still experimental, with the possibility of adjustments in the assessment, we believe that this assessment, combined with the study of central auditory processing, will allow us to understand some central lesions, congenital or acquired hearing perception limitations.

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.

RESULTS OF COCHLEAR IMPLANTATION IN CHILDREN WITH CONGENITAL CYTOMEGALOVIRUS INFECTION VERSUS GJB2 MUTATION

Background: Children with congenital cytomegalovirus (CMV) infection face a bigger risk of neurological deficits and developmental delays associated with sensorineural hearing loss (SNHL). Their rehabilitation with a cochlear implant (CI) may therefore be inferior to the paediatric population in general. This study describes post-implant outcomes in children with CMV-related deafness and compares them to children with genetic deafness caused by GJB2 mutation (connexin 26) rehabilitated at the Centro Hospitalar e Universitário de Coimbra, Portugal.

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.

Cochlear Implants Outcomes in Prelingually Deaf Children

OBJECTIVE: 1) Assess the audiological outcomes of cochlear implant in children with prelingual deafness. 2) Assess the language, speech and voice outcome of cochlear implant in children with prelingual deafness. METHOD: Prelingual deaf children with more than 5 years of aural rehabilitation with cochlear implant in a Portuguese Implant Centre (Centro Hospitalar de Coimbra), from 1992 to 2009, were submitted to tonal and vocal functional gain, discrimination tests adapted to the age of the individuals, auditory comprehension, speech and language. The monosyllables, numbers and sentences discrimination tests (Portuguese European Language tests) were presented in free field with recorded lists using SFS software through the audiometer at 65 dB SPL. The scales CAP and SIR, Portuguese test that evaluates language development (Compreenso de Estruturas Complexas) speech production (Teste de Articulao Verbal), vocal characteristics (Grelha de Avaliao das Caractersticas Vocais GACV) and a vowel discrimination test were also used. RESULTS: 142 individuals were evaluated with the monosyllables discrimination test; 78.1% achieved 50% discrimination; 41.5% achieved 70%; regarding phonemic discrimination, mean of 76.25 is achieved, median 81.40 and standard deviation 17.87 . 142 individuals were evaluated with the numbers discrimination test; 96.5% achieved 50% discrimination; 90% achieved 70%, regarding phonemic discrimination mean of 93 is achieved, median 98.85 and standard deviation 13.97. 142 individuals were evaluated with the sentences discrimination test; 76% achieved 50% discrimination; 51.9% achieved 70% discrimination. 133 individuals were evaluated with the vowel discrimination test; the results were an average of 97.42%, and standard deviations of 11.04. 190 individuals were evaluated with the SIR scale; 13.2% were scored on level 3, 16.8% on level 4, and 58.9% on level 5. 127 individuals were evaluated with the CAP scale; 28.3% were scored on level 4, 30.7% on level 5, 17.3% on level 6, and 22% on level 7. 209 individuals were evaluated with the GACV scale; 4.3% were scored on level 3, 34% on level 4 and 58.4% on level 5. Complex sentence comprehension test (Teste de Compreenso de Estruturas Complexas) (n100) the results were an average of 61.67%, and standard deviations of 26.5. Speech production test (Teste de Articulao Verbal) (N171) the results were an average of 77.6%, and standard deviations of 20.85. CONCLUSION: The results express a good performance in speech intelligibility, with a good articulation level and a good