Jorge Humberto Martins

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.

A European Perspective on Auditory Processing Disorder-Current Knowledge and Future Research Focus

Current notions of “hearing impairment,” as reflected in clinical audiological practice, do not acknowledge the needs of individuals who have normal hearing pure tone sensitivity but who experience auditory processing difficulties in everyday life that are indexed by reduced performance in other more sophisticated audiometric tests such as speech audiometry in noise or complex non-speech sound perception. This disorder, defined as “Auditory Processing Disorder” (APD) or “Central Auditory Processing Disorder” is classified in the current tenth version of the International Classification of diseases as H93.25 and in the forthcoming beta eleventh version. APDs may have detrimental effects on the affected individual, with low esteem, anxiety, and depression, and symptoms may remain into adulthood. These disorders may interfere with learning per se and with communication, social, emotional, and academic-work aspects of life. The objective of the present paper is to define a baseline European APD consensus formulated by experienced clinicians and researchers in this specific field of human auditory science. A secondary aim is to identify issues that future research needs to address in order to further clarify the nature of APD and thus assist in optimum diagnosis and evidence-based management. This European consensus presents the main symptoms, conditions, and specific medical history elements that should lead to auditory processing evaluation. Consensus on definition of the disorder, optimum diagnostic pathway, and appropriate management are highlighted alongside a perspective on future research focus.

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.

European 17 countries consensus endorses more approaches to APD than reported in Wilson 2018

It was a pleasure reading Wilson’s paper: “Evolving the concept of APD” (2018) insightful article on different approaches to APD set to promote understanding of the disorder. The interpretation of ...

Facial nerve stimulation after cochlear implantation: Our experience in 448 adult patients

Facial nerve stimulation (FNS) after cochlear implant activation is a well-known side effect, with an incidence rate raging between 1% and 14.9%. Some causes of deafness have been associated with a higher incidence of this entity, however, there is still no consensus regarding its pathophysiological mechanisms. Although FNS can be solved with changes in speech processor programming, in some cases this can lead to a decrease in performance. The aim of this work was to review the epidemiologic, clinical aspects, and performance results in a group of FNS after cochlear implantation. It was conducted a retrospective chart review of 448 adult patients, all implanted between 1985 and 2016. Speech perception tests results were statistically analysed, using non-parametric tests. We registered a group of 13 patients with FNS, contributing to a prevalence of 2.9%. The causes of hearing loss in this group varied between otosclerosis, Menière’s disease, head trauma, and idiopathic cause. Six cases were managed by changing the programming strategy and the other seven required the deactivation of the affected electrodes. Statistical evaluation showed no statistically significant difference between the performance results of the groups with and without FNS. In this series, the overall incidence of FNS was consistent with the literature. Our study supports the current idea that FNS can frequently be eliminated by changing programming strategies or deactivating the involved electrodes, without affecting the implant’s performance.

Cochlear implantation in children with anomalous cochleovestibular anatomy

OBJECTIVE The aim of the study is to assess the audiological and surgical outcome after cochlear implantation in children with inner ear malformation and to compare them with a group of congenitally deaf children implantees without inner ear malformation. INTRODUCTION Children with profound sensorineural deafness with malformations of the inner ear represent a challenge, accounting to 5-15% of congenital sensorineural deafness. These cases were originally regarded as a contraindication for cochlear implant surgery. METHODS Retrospective study of 26 patients with congenital inner ear malformation, from a total population of 329 cochlear implant patients. Radiological evaluation with high resolution computed tomography and magnet resonance was performed to all patients in order to evaluate all the preoperative conditions. All patients were tested using European Portuguese word discrimination tests (monosyllabic test, number test and sentences test), capacity of auditory performance (CAP) and speech intelligibility rating (SIR). RESULTS In all 7.9% of deaf children in our center study have inner ear abnormalities. All children underwent successful implantation. CAP yielded an average 7.1 (+/-1.7), SIR 4.3 (+/-1.0). The children without inner ear abnormalities did not achieve statistically significant better scores. Two children had a perilymph gusher, and there were no other complications. CONCLUSION Cochlear implantation can be successfully performed in children with inner ear malformation. Audiological performance after cochlear implantation in malformed inner ears is comparable to that found in other congenitally deaf patients. The risk of CSF leak is associated with inner ear abnormalities and should be anticipated during surgery.

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.