Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America.

Congenital hearing loss is the most common birth defect, estimated to affect 2-3 in every 1000 births, with ~50-60% of those related to genetic causes. Technological advances enabled the identification of hundreds of genes related to hearing loss (HL), with important implications for patients, their families, and the community. Despite these advances, in Latin America, the population with hearing loss remains underdiagnosed, with most studies focusing on a single locus encompassing the GJB2/GJB6 genes. Here we discuss how current and emerging genetic knowledge has the potential to alter the approach to diagnosis and management of hearing loss, which is the current situation in Latin America, and the barriers that still need to be overcome.

Follow-up of children diagnosed with deafness in a neonatal hearing screening program in Manaus.

OBJECTIVE: To evaluate the follow-up of children diagnosed with deafness in neonatal hearing screening and risk factors for hearing loss. METHODS: Quantitative, cross-sectional, and retrospective study to evaluate factors associated with hearing loss and the follow-up of cases of children diagnosed with audiological dysfunction, by analyzing electronic medical records of 5,305 children referred to a Specialized Center in Type I Rehabilitation, from January/2016 to February/2020, in the city of Manaus, Amazonas. The statistical study used Pearson's chi-square test and binary logistic regression in which odds ratio scans were obtained with reliability intervals of 95%. RESULTS: Of the 5,305 children referred for the otoacoustic emission retest, 366 (6.9%) failed the retest. Children diagnosed with sensorineural hearing loss continued in the study, totaling 265 (72.4%). Only 58 (21.9%) children continued in the study to its end, of these 39 had received hearing aids at that point; and 16 (41%) had surgical indication for cochlear implants, of which only 3 (18.7%) had undergone surgery. Among the risk factors for hearing loss, we found 2.6 times more chance of failure in the otoacoustic emissions retest in those children who had a family history of hearing loss and ICU stay. CONCLUSION: Although the screening flow reaches a large part of live births, the dropout rates during the process are high, therefore, the socioeconomic and geographic characteristics of regions such as the Amazon should be considered as relevant factors to the evasion of rehabilitation programs of these children. Hospitalization in the neonatal ICU and family history of hearing loss in the investigations could be identified as the main and most important factors for alteration of the otoacoustic emissions retests.

Estimating Early Language Input in Deaf and Hard of Hearing Children With the Language Access Profile Tool.

PURPOSE: The purpose of this study was to describe the Language Access Profile Tool (LAPT) and its psychometric properties with the aim of evaluating its suitability as an alternative to the deaf or hard of hearing (DHH) Language Exposure Assessment Tool (D-LEAT) in clinical practice with DHH children age 12 years and younger. METHOD: We administered both the LAPT and D-LEAT to the caregivers of 105 DHH children 12 years old and younger from across the United States, 40% of whom were interviewed again after a delay of at least 1 month. Each interview resulted in a child-specific estimate of their cumulative experience with language input, expressed as a proportion divided across eight categories. RESULTS: Participants in the sample reported experience with all eight input categories, but four categories were common and four were rare. Estimates for all input categories were consistent at both initial and follow-up interviews. Estimates for each input category were also strongly correlated with the corresponding estimates from the D-LEAT, although correlations for the rare categories should be interpreted cautiously. CONCLUSIONS: The LAPT demonstrates sufficient test-retest reliability and convergent validity to be a useful and more user-friendly alternative to the D-LEAT. We provide recommendations for how the LAPT and the D-LEAT can be best used in their current form. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.20669001.

Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of etiologies. The diverse causes of hearing loss, combined with the highly variable and often overlapping presentations of different forms of hearing loss, challenge the ability of traditional clinical evaluations to arrive at an etiologic diagnosis for many deaf and hard-of-hearing individuals. However, identifying the etiology of hearing loss may affect clinical management, improve prognostic accuracy, and refine genetic counseling and assessment of the likelihood of recurrence for relatives of deaf and hard-of-hearing individuals. Linguistic and cultural identities associated with being deaf or hard-of-hearing can complicate access to and the effectiveness of clinical care. These concerns can be minimized when genetic and other health care services are provided in a linguistically and culturally sensitive manner. This clinical practice resource offers information about the frequency, causes, and presentations of hearing loss and suggests approaches to the clinical and genetic evaluation of deaf and hard-of-hearing individuals aimed at identifying an etiologic diagnosis and providing informative and effective patient education and genetic counseling.

Does universal newborn hearing screening impact the timing of deafness treatment?

OBJECTIVE: To evaluate the impact of the Universal Neonatal Hearing Screening (UNHS) on the age at diagnosis, beginning of treatment, and first cochlear implant surgery. METHODS: A retrospective cohort study with children up to 12 years old with bilateral hearing loss were divided into two groups: patients who underwent UNHS and the ones who didn't. The groups were compared according to their age at the beginning of the evaluation at a specialized center, at the beginning of the intervention, and, for the ones who had indication, at the cochlear implant surgery. The group who underwent UNHS was divided between the ones who passed the screening test and the ones who didn't. They were compared according to their ages at the same moments as the first two groups. RESULTS: 135 patients were included. The median age at the first appointment in a specialized center was 1.42 (0.50 and 2.50) years, at the beginning of treatment 2.00 (1.00 and 3.52) years, and the cochlear implant surgery 2.83 (1.83 and 4.66) years. Children who underwent UNHS were younger than those who didn't, at the three evaluated moments (p < 0.001). In a subanalysis, children who passed the UNHS but were later diagnosed with hearing loss reached the first appointment with a specialist and started treatment older than those who failed the tests. CONCLUSION: Performing UNHS interfered with the timing of deafness diagnosis and treatment. However, children who passed the screening but were later diagnosed with hearing loss were the category with the most important delay.

Follow-up of children diagnosed with deafness in a neonatal hearing screening program in Manaus / Seguimento de crianças com diagnóstico de surdez em programa de triagem auditiva neonatal em Manaus

ABSTRACT OBJECTIVE To evaluate the follow-up of children diagnosed with deafness in neonatal hearing screening and risk factors for hearing loss. METHODS Quantitative, cross-sectional, and retrospective study to evaluate factors associated with hearing loss and the follow-up of cases of children diagnosed with audiological dysfunction, by analyzing electronic medical records of 5,305 children referred to a Specialized Center in Type I Rehabilitation, from January/2016 to February/2020, in the city of Manaus, Amazonas. The statistical study used Pearson's chi-square test and binary logistic regression in which odds ratio scans were obtained with reliability intervals of 95%. RESULTS Of the 5,305 children referred for the otoacoustic emission retest, 366 (6.9%) failed the retest. Children diagnosed with sensorineural hearing loss continued in the study, totaling 265 (72.4%). Only 58 (21.9%) children continued in the study to its end, of these 39 had received hearing aids at that point; and 16 (41%) had surgical indication for cochlear implants, of which only 3 (18.7%) had undergone surgery. Among the risk factors for hearing loss, we found 2.6 times more chance of failure in the otoacoustic emissions retest in those children who had a family history of hearing loss and ICU stay. CONCLUSION Although the screening flow reaches a large part of live births, the dropout rates during the process are high, therefore, the socioeconomic and geographic characteristics of regions such as the Amazon should be considered as relevant factors to the evasion of rehabilitation programs of these children. Hospitalization in the neonatal ICU and family history of hearing loss in the investigations could be identified as the main and most important factors for alteration of the otoacoustic emissions retests.

RESUMO OBJETIVO Avaliar o seguimento das crianças com diagnóstico de surdez na triagem auditiva neonatal e fatores de risco para deficiência auditiva. MÉTODOS Estudo quantitativo, transversal e retrospectivo para avaliação de fatores associados à perda auditiva e o seguimento dos casos de crianças diagnosticadas com disfunção audiológica, por meio da análise de prontuários eletrônicos de 5.305 crianças encaminhadas a um Centro Especializado em Reabilitação Tipo I, no período de janeiro/2016 a fevereiro/2020, na cidade de Manaus, Amazonas. O estudo estatístico utilizou o teste qui-quadrado de Pearson e por regressão logística binária nos quais foram obtidos odds ratio com intervalos de confiabilidade de 95%. RESULTADOS Das 5.305 crianças encaminhadas para realização do reteste da orelhinha, 366 (6,9%) falharam no reteste. Prosseguiram no estudo as crianças com diagnóstico de perda auditiva neurossensorial, totalizando 265 (72,4%). Permanecendo, no final da pesquisa, apenas 58 (21,9%) crianças, destas 39 receberam aparelho auditivo até o presente estudo; e 16 (41%) já tinham indicação cirúrgica para implante coclear, sendo que apenas três (18,7%) haviam realizado a cirurgia. Dentre os fatores de risco para deficiência auditiva encontramos 2,6 vezes mais chance de falha no reteste da orelhinha naquelas crianças que tinham história familiar de perda auditiva e internação em UTI. CONCLUSÕES Embora o fluxo de triagem alcance boa parte dos nascidos vivos, as taxas de evasão durante o processo são altas, portanto, as características socioeconômicas e geográficas de regiões como a Amazônia devem ser consideradas como fatores relevantes à evasão dos programas de reabilitação dessas crianças. Foi possível identificar que a internação em UTI neonatal e o histórico familiar de perda auditiva presentes nas investigações compõem os principais e mais importantes fatores para alteração dos retestes da orelhinha.

Systematic Review of Auditory Perceptual and Acoustic Characteristics of the Voice of Cochlear Implant Adult Users.

STATEMENT OF PROBLEM: What are the normative data available on the perceptual and acoustic characteristics of the voice of adults of both sexes who have hearing-impairment and who use cochlear implants? PURPOSE: To identify in the literature, normative data about the perceptual auditory and acoustic characteristics of the voice of hearing-impaired cochlear implant adult users. SEARCH STRATEGY: A systematic search was carried out in the Virtual Health Library, Web of Science, Science Direct, SciELO, and SCOPUS databases with no temporal restriction. SELECTION CRITERIA: The articles were selected if they led with citation to normative data of the acoustic analysis of the voice of deaf cochlear implant users. And duplicate articles, case studies, letters to the editor, reviews, and studies that were not directly related to the topic were excluded. DATA EXTRACTION: The data from each article were extracted according to the Preferred Reporting Items for Systematic Reviews and Meta-analysis checklist: title, abstract, year of publication, journal, authors and country of origin, identification of background, purpose, study design, participants, variables, and data measurement. DATA SYNTHESIS: There were 1,052 publications that met the search criteria. After applying the Preferred Reporting Items for Systematic Reviews and Meta-analysis checklist, excluding duplicates, and reading of the full text, 10 papers were selected for further analysis. Although several voice parameters have been studied, there is a great variation in study designs, sample sizes, age of participants, voice samples analyzed, and cochlear implant specifications. CONCLUSION: The normative data available in the literature concerning the voice of cochlear implant users are consistent only in terms of fundamental frequency.

Perceptions of deaf subjects about communication in Primary Health Care / Percepções de sujeitos surdos sobre a comunicação na Atenção Básica à Saúde / Percepciones de sujetos sordos sobre la comunicación en la Atención Básica a la Salud

ABSTRACT Objective: to analyze the perceptions of deaf individuals about the communication process with health professionals of the state of Rio de Janeiro. Methods: cross-sectional observational study. Data were collected through the application of a questionnaire with quantitative and qualitative questions to 121 deaf adults. Objective responses were studied descriptively through frequency tables and analyzed by inferential statistics and logistic regression. The data from the open questions were analyzed through content analysis. Results: the lack of interpreters and the lack of use of the Brazilian Sign Language by professionals were perceived as the main communication barriers. In turn, the presence of companions who are listeners (73%) and the use of mime/gestures (68%) were among the strategies most used by the deaf. The majority of deaf people reported insecurity in consultations, and those who best understood their diagnosis and treatment were the bilingual deaf (p = 0.0347) and the deaf who used oral communication (p = 0.0056). Conclusion: communication with the professionals was facilitated when the deaf people had a companion or when they used mimics and gestures. Sign language was neglected, despite the fact that the provision of care to the deaf by professionals trained to use this language is guaranteed in the legislation.

RESUMO Objetivo: analisar as percepções de indivíduos com surdez em relação ao processo comunicacional com profissionais de saúde da Atenção Básica do Estado do Rio de Janeiro. Métodos: estudo observacional transversal. A coleta de dados foi feita através da aplicação de questionário com perguntas quantitativas e qualitativas a 121 surdos adultos. As respostas objetivas foram estudadas descritivamente através de tabelas de frequência e analisadas por estatísticas inferenciais e de regressão logística. E, para os dados oriundos de questões abertas, foi realizada uma análise de conteúdo. Resultados: a falta de intérprete e a não utilização da Língua Brasileira de Sinais pelos profissionais foram percebidas como principais barreiras comunicacionais. Já a presença de acompanhante ouvinte (73%) e o uso de mímicas/gestos (68%) estão entre as estratégias mais utilizadas pelos surdos. A maioria dos surdos relatou insegurança após as consultas e os que melhor compreenderam seu diagnóstico e tratamento foram os surdos bilíngues (p=0,0347) e os oralizados (p=0,0056). Conclusão: a comunicação com os profissionais foi facilitada quando os surdos estavam com acompanhante ou quando utilizavam mímicas e gestos, sendo a língua de sinais negligenciada, apesar da legislação garantir aos surdos atendimento por profissionais capacitados para o uso desta.

RESUMEN Objetivo: analizar las percepciones de individuos con sordera en relación al proceso comunicacional con profesionales de salud de la Atención Básica del Estado de Rio de Janeiro. Métodos: estudio observacional transversal. La recolección de datos fue hecha a través de la aplicación de un cuestionario con preguntas cuantitativas y cualitativas a 121 sordos adultos. Las respuestas objetivas fueron estudiadas descriptivamente a través de tablas de frecuencia y analizadas por estadísticas inferenciales y de regresión logística. Y, para los datos oriundos de preguntas abiertas, fue realizado un análisis de contenido. Resultados: la falta de intérprete y la no utilización de la Lengua Brasilera de Signos por los profesionales fueron percibidas como principales barreras comunicacionales. La presencia de acompañante oyente (73%) y el uso de mímicas/gestos (68%) están entre las estrategias más utilizadas por los sordos. La mayoría de los sordos relató inseguridad después de las consultas, y los que mejor comprendieron su diagnóstico y tratamiento fueron los sordos bilingües (p=0,0347) y los orales (p=0,0056). Conclusión: la comunicación con los profesionales fue facilitada cuando los sordos estaban con acompañante o cuando utilizaban mímicas y gestos, siendo la lengua de signos descuidada, a pesar de la legislación garantizar a los sordos atendimiento por profesionales capacitados para el uso de esta.

Superficial siderosis misdiagnosed as idiopathic bilateral neurosensorial deafness.

Superficial siderosis (SS) is a rare condition resulting from different sources of bleeding into the subpial space. The most common symptoms are: hypoacusia, ataxia, incontinence, dementia and parkinsonism. Since several neurodegenerative disorders may present with same clinical features, SS is often misdiagnosed. Here we present a case of SS misdiagnosed as idiopathic bilateral neurosensorial deafness.

Concurrent Hearing, Genetic, and Cytomegalovirus Screening in Newborns, Taiwan.

OBJECTIVE: To evaluate the feasibility and potential benefits of incorporating genetic and cytomegalovirus (CMV) screenings into the current newborn hearing screening (NHS) programs. STUDY DESIGN: Newborns were recruited prospectively from a tertiary hospital and a maternity clinic between May 2016 and December 2016 and were subjected to hearing screening, CMV screening, and genetic screening for 4 common mutations in deafness genes (p.V37I and c.235delC of GJB2 gene, c.919-2A>G of SLC26A4 gene, and the mitochondrial m.1555A>G). Infants with homozygous nuclear mutations or homoplasmic/heteroplasmic mitochondrial mutation (referred to as "conclusively positive genotypes") and those who tested positive for CMV received diagnostic audiologic evaluations. RESULTS: Of the total 1716 newborns enrolled, we identified 20 (1.2%) newborns with conclusively positive genotypes on genetic screening, comprising 15 newborns (0.9%) with GJB2 p.V37I/p.V37I and 5 newborns (0.3%) with m.1555A>G. Three (0.2%) newborns tested positive on CMV screening. Twelve of the 20 newborns (60%) with conclusively positive genotypes and all 3 newborns who tested positive for CMV (100%) passed NHS at birth. Diagnostic audiologic evaluations conducted at 3 months confirmed hearing impairment in 6 of the 20 infants (30%) with conclusively positive genotypes. CONCLUSIONS: This study confirms the feasibility of performing hearing, genetic, and CMV screenings concurrently in newborns and provides evidence that the incorporation of these screening tests could potentially identify an additional subgroup of infants with impaired hearing that might not be detected by the NHS programs.

Preoperative vestibular assessment protocol of cochlear implant surgery: an analytical descriptive study / Protocolo de avaliação vestibular pré-operatória da cirurgia de implante coclear: estudo descritivo analítico

Abstract Introduction: Cochlear implants are undeniably an effective method for the recovery of hearing function in patients with hearing loss. Objective: To describe the preoperative vestibular assessment protocol in subjects who will be submitted to cochlear implants. Methods: Our institutional protocol provides the vestibular diagnosis through six simple tests: Romberg and Fukuda tests, assessment for spontaneous nystagmus, Head Impulse Test, evaluation for Head Shaking Nystagmus and caloric test. Results: 21 patients were evaluated with a mean age of 42.75 ± 14.38 years. Only 28% of the sample had all normal test results. The presence of asymmetric vestibular information was documented through the caloric test in 32% of the sample and spontaneous nystagmus was an important clue for the diagnosis. Bilateral vestibular areflexia was present in four subjects, unilateral arreflexia in three and bilateral hyporeflexia in two. The Head Impulse Test was a significant indicator for the diagnosis of areflexia in the tested ear (p = 0.0001). The sensitized Romberg test using a foam pad was able to diagnose severe vestibular function impairment (p = 0.003). Conclusion: The six clinical tests were able to identify the presence or absence of vestibular function and function asymmetry between the ears of the same individual.

Resumo Introdução: Os implantes cocleares (IC) são indiscutivelmente um método eficaz de recuperação da função auditiva de pacientes surdos. Objetivo: Descrever o protocolo de avaliação vestibular pré-operatória em sujeitos que serão submetidos ao IC. Método: Nosso protocolo institucional prevê o diagnóstico vestibular por meio de seis testes simples: testes de Romberg e Fukuda, nistagmo espontâneo, Head Impulse Test, Head Shaking Nistagmus, prova calórica. Resultados: Foram avaliados 21 pacientes com média de 42,75 ± 14,38 anos. Apenas 28% da amostra apresentaram todos os testes normais. A presença de informação vestibular assimétrica foi documentada pela prova calórica em 32% da amostra e o nistagmo espontâneo mostrou-se pista importante para seu diagnóstico. A arreflexia vestibular bilateral foi diagnosticada em quatro sujeitos; arreflexia unilateral em três e hiporreflexia bilateral em dois. O Head Impulse Test mostrou-se indicador significante (p = 0,0001) para diagnosticar arreflexia da orelha testada. O teste de Romberg sensibilizado em almofada foi capaz de diagnosticar os comprometimentos severos da função vestibular (p = 0,003). Conclusão: Os seis testes clínicos foram capazes de identificar a presença ou não de função vestibular e assimetria da função entre as orelhas de um mesmo indivíduo.

Pediatric Minimum Speech Test Battery.

BACKGROUND: Assessment of patient outcomes and documentation of treatment efficacy serves as an essential component of (re)habilitative audiology; however, no standardized protocol exists for the assessment of speech perception abilities for children with hearing loss. This presents a significant challenge in tracking performance of children who utilize various hearing technologies for within-subjects assessment, between-subjects assessment, and even across different facilities. PURPOSE: The adoption and adherence to a standardized assessment protocol could help facilitate continuity of care, assist in clinical decision making, allow clinicians and researchers to define benchmarks for an aggregate clinical population, and in time, aid with patient counseling regarding expectations and predictions regarding longitudinal outcomes. DESIGN: The Pediatric Minimum Speech Test Battery (PMSTB) working group-comprised of clinicians, scientists, and industry representatives-commenced in 2012 and has worked collaboratively to construct the first PMSTB, which is described here. CONCLUSIONS: Implementation of the PMSTB in clinical practice and dissemination of associated data are both critical for achieving the next level of success for children with hearing loss and for elevating pediatric hearing health care ensuring evidence-based practice for (re)habilitative audiology.

Preoperative vestibular assessment protocol of cochlear implant surgery: an analytical descriptive study.

INTRODUCTION: Cochlear implants are undeniably an effective method for the recovery of hearing function in patients with hearing loss. OBJECTIVE: To describe the preoperative vestibular assessment protocol in subjects who will be submitted to cochlear implants. METHODS: Our institutional protocol provides the vestibular diagnosis through six simple tests: Romberg and Fukuda tests, assessment for spontaneous nystagmus, Head Impulse Test, evaluation for Head Shaking Nystagmus and caloric test. RESULTS: 21 patients were evaluated with a mean age of 42.75±14.38 years. Only 28% of the sample had all normal test results. The presence of asymmetric vestibular information was documented through the caloric test in 32% of the sample and spontaneous nystagmus was an important clue for the diagnosis. Bilateral vestibular areflexia was present in four subjects, unilateral arreflexia in three and bilateral hyporeflexia in two. The Head Impulse Test was a significant indicator for the diagnosis of areflexia in the tested ear (p=0.0001). The sensitized Romberg test using a foam pad was able to diagnose severe vestibular function impairment (p=0.003). CONCLUSION: The six clinical tests were able to identify the presence or absence of vestibular function and function asymmetry between the ears of the same individual.

Qualitative aspects of the process of Neonatal Hearing Screening Program in Mexico evaluated from the parental perspective. / Aspectos cualitativos del proceso del Programa de Tamiz Auditivo Neonatal en México evaluados desde la perspectiva parental.

INTRODUCTION: The Universal Newborn Hearing Screening Program in Mexico began in 2010. Its results, published in 2013 by the National Council for the Development and Inclusion of Persons with Disabilities (CONADIS), report low coverage and, currently, there is a dearth of information about its activities. This study describes the process of the program from the epistemological perspective of women whose children participated in the program, evaluating it under the sustenance of the constructivist-respondent model in search of aspects that could help explain its results. METHODS: Descriptive study with a qualitative approach based on the constructivist–respondent paradigm. We elected the 14 women who participated in the study through trial and number until theoretical saturation. After signing an informed consent form and respecting the confidentiality and anonymity, these women underwent semi-structured interviews that were audio-recorded and transcribed as were conducted. The researchers separately analyzed and coded categories and conjointly summarized categories and subcategories. Validity and reliability were obtained through the credibility, transferability and triangulation. RESULTS: From the speeches, we obtained the general profile of the interviewed, evolution of their children in the program process and four categories with 15 subcategories related to the reconstruction of the process: knowledge, needs, feelings and attitudes. One was evaluated as favorable, six without agreement and eight as unfavorable. The latter refer to our own context. CONCLUSIONS: The epistemological perspective of the interviewed women showed aspects that could help explain the low coverage of the program. Attention from public policies could improve this feature. With the establishment of the program, children with deafness are diagnosed and treated at a lower age than before the program.

INTRODUCCIÓN: El Programa de Tamiz Auditivo Neonatal Universal se inició en México en 2010. Sus resultados, publicados en 2013 por el Consejo Nacional para el Desarrollo y la Inclusión de las Personas con Discapacidad, informan baja cobertura. Actualmente hay escasez de información sobre sus actividades. Este estudio describe el proceso del programa desde la perspectiva epistemológica de mujeres cuyos hijos participaron en el mismo, evaluándolo bajo el sustento del modelo constructivista-respondente en busca de aspectos que puedan ayudar a explicar sus resultados. MÉTODOS: Estudio de tipo mixto, con enfoque en el paradigma constructivista respondente. En él participaron 14 mujeres, elegidas por juicio y su número hasta la saturación teórica. A ellas, previa firma de consentimiento informado, respetando la confidencialidad y anonimato; se les aplicaron entrevistas semi estructuradas. Estas fueron audio grabadas y transcritas tal como se expresaron. Las investigadoras analizaron y codificaron categorías por separado; juntas resumieron categorías y subcategorías. La validez y confiabilidad se obtuvieron a través de la credibilidad, transferibilidad y triangulación. RESULTADOS: De los discursos se obtuvieron el perfil general de las entrevistadas, evolución de sus hijos en el proceso del programa y cuatro categorías con 15 subcategorías relacionadas con la reconstrucción del proceso: conocimientos, necesidades, sentimientos y actitudes. Estas categorías se evaluaron como favorable (una), sin acuerdo (seis) y desfavorables (ocho). Estas últimas, son propias de nuestro contexto. CONCLUSIONES: La perspectiva epistemológica de las entrevistadas, mostró aspectos que podrían ayudar a explicar la baja cobertura del programa. Retomarlo desde las políticas públicas puede mejorarlo. Con el establecimiento del programa, los niños con sordera son diagnosticados e intervenidos a menor edad que antes del programa.

Cochlear Implantation in Isolated Large Vestibular Aqueduct Syndrome: Report of Three Cases and Literature Review

Introduction Large vestibular aqueduct syndrome (LVAS) is characterized by the enlargement of the vestibular aqueduct associated with sensorineural hearing loss. It is the most common radiographically detectable inner ear anomaly in congenital hearing loss. LVAS may occur as an isolated anomaly or in association with other inner ear malformations. Objective To report three cases of isolated LVAS with a focus on preoperative assessment, surgical issues, and short-term postoperative follow-up with preliminary auditory habilitation outcomes. Resumed Report One girl and two boys with LVAS were assessed and cochlear implantation was performed for each. Various ways of intraoperative management of cerebrospinal fluid gusher and postoperative care and outcomes are reported. Conclusion Cochlear implantation in the deaf children with LVAS is feasible and effective.(AU)

Avaliação audiológica em cães através da audiometria de impedâncio Timpanometria e teste de reflexo acústico: revisão bibliográfica / Audiological evaluation in animais vith hearing loss conductive by Impedance Audiometry tympanometry reflex and acoust test: Literature Review / Evaluación audiológica en perros através Impedâncio Audiometría: la timpanometría es acústico de prueba reflex: revisión de la literatura

O interesse nas avaliações audiológicas vem despertando novos olhares na medicina veterinária,uma vez que a hipoacusia pode acarretar em alterações de comportamento, como agressividade e a não socialização do animal. A detecção das alterações auditivas parciais ou totais podem ser realizadas através de avaliações eletrofisiológicas como emissões otoacusticas, respostas auditivas evocadas, impedanciometria(Timpanometria) e do reflexo do músculo estapediano, que fazem parte de exames complementares dentro da audiologia e da clínica médica, uma vez que não necessitam da colaboração do paciente, o aparelho é capaz de identificar os reflexos produzindo um gráfico, denominados timpanogramas. A impedanciometria mede a integridade do sistema tímpano-ossicular e do reflexo do músculo estapédiano, sua função é verificar as condições da orelha média através da movimentação da membrana timpânica. Este trabalho tem por objetivo explicar como utilizar a audiometria de impedancio na prevenção e diagnostico das perdas auditivas causadas por uma otopatia.(AU)

The interest in the audiological assessment is attracting new looks in veterinary medicine, sincehearing loss can lead to behavioral changes such as aggression and non-socialization of the animal. The detection of partial or total hearing loss can be performed by electrophysiological assessment as otoacoustic emissions, auditory evoked responses, impedance (Tympanometry) and the reflection of the stapedial muscle, which are part of exams in audiology and medical clinic, once who do not require patient cooperation, the device is able to identify reflections producing a graph, known as tympanometry. The impedance measures the integrity of the tympanic-ossicular system and the reflection of the stapedial muscle, its function is to check the middle ear conditions by moving the tympanic membrane. This paper aims to explain how to use the impedancioaudiometry in the prevention and diagnosis of hearing loss caused by ear disease.(AU)

El interés en la evaluación audiológica está atrayendo nuevas miradas en la medicina veterinaria,ya que la pérdida de audición puede conducir a cambios en el comportamiento como la agresión y no la socialización dei animal. La detección de la sordera parcial o total puede ser realizada por la evaluación electrofisiológica como emisiones otoacústicas, evocados auditivos respuestas, impedancia (timpanometría)y el reflejo dei músculo estapedial, que son parte de los exámenes en audiología y clínica médica, una vez queno requiere la cooperación del paciente, el dispositivo es capaz de identificar reflexiones que producen una gráfica, conocida como timpanometría. Las medidas de impedancia de la integridad del sistema de huesecillostimpánica y la reflexión del músculo estapedio, su función es comprobar las condiciones dei oído medio,moviendo la membrana timpánica. Este documento pretende explicar cómo usar la audiometría impedancioen la prevención y diagnóstico de la pérdida causada por enfermedades del oído de oír.(AU)

Avaliação audiológica em cães através da audiometria de impedâncio Timpanometria e teste de reflexo acústico: revisão bibliográfica / Audiological evaluation in animais vith hearing loss conductive by Impedance Audiometry tympanometry reflex and acoust test: Literature Review / Evaluación audiológica en perros através Impedâncio Audiometría: la timpanometría es acústico de prueba reflex: revisión de la literatura

O interesse nas avaliações audiológicas vem despertando novos olhares na medicina veterinária,uma vez que a hipoacusia pode acarretar em alterações de comportamento, como agressividade e a não socialização do animal. A detecção das alterações auditivas parciais ou totais podem ser realizadas através de avaliações eletrofisiológicas como emissões otoacusticas, respostas auditivas evocadas, impedanciometria(Timpanometria) e do reflexo do músculo estapediano, que fazem parte de exames complementares dentro da audiologia e da clínica médica, uma vez que não necessitam da colaboração do paciente, o aparelho é capaz de identificar os reflexos produzindo um gráfico, denominados timpanogramas. A impedanciometria mede a integridade do sistema tímpano-ossicular e do reflexo do músculo estapédiano, sua função é verificar as condições da orelha média através da movimentação da membrana timpânica. Este trabalho tem por objetivo explicar como utilizar a audiometria de impedancio na prevenção e diagnostico das perdas auditivas causadas por uma otopatia.

The interest in the audiological assessment is attracting new looks in veterinary medicine, sincehearing loss can lead to behavioral changes such as aggression and non-socialization of the animal. The detection of partial or total hearing loss can be performed by electrophysiological assessment as otoacoustic emissions, auditory evoked responses, impedance (Tympanometry) and the reflection of the stapedial muscle, which are part of exams in audiology and medical clinic, once who do not require patient cooperation, the device is able to identify reflections producing a graph, known as tympanometry. The impedance measures the integrity of the tympanic-ossicular system and the reflection of the stapedial muscle, its function is to check the middle ear conditions by moving the tympanic membrane. This paper aims to explain how to use the impedancioaudiometry in the prevention and diagnosis of hearing loss caused by ear disease.

El interés en la evaluación audiológica está atrayendo nuevas miradas en la medicina veterinaria,ya que la pérdida de audición puede conducir a cambios en el comportamiento como la agresión y no la socialización dei animal. La detección de la sordera parcial o total puede ser realizada por la evaluación electrofisiológica como emisiones otoacústicas, evocados auditivos respuestas, impedancia (timpanometría)y el reflejo dei músculo estapedial, que son parte de los exámenes en audiología y clínica médica, una vez queno requiere la cooperación del paciente, el dispositivo es capaz de identificar reflexiones que producen una gráfica, conocida como timpanometría. Las medidas de impedancia de la integridad del sistema de huesecillostimpánica y la reflexión del músculo estapedio, su función es comprobar las condiciones dei oído medio,moviendo la membrana timpánica. Este documento pretende explicar cómo usar la audiometría impedancioen la prevención y diagnóstico de la pérdida causada por enfermedades del oído de oír.

Syndrome in Question.

Waardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness.

Syndrome in Question

AbstractWaardenburg syndrome is an inherited disease characterized by sensorineural hearing loss, pigmentation changes and minor facial malformations. It has four clinical variants. We report the case of a girl who, like her mother, was affected by this syndrome. The diagnosis was made after detection and treatment of deafness.

Brainstem auditory-evoked potential in Boxer dogs / Potencial evocado auditivo de tronco encefálico em cães da raça Boxer

Brainstem auditory-evoked potential (BAEP) has been widely used for different purposes in veterinary practice and is commonly used to identify inherited deafness and presbycusis. In this study, 43 Boxer dogs were evaluated using the BAEP. Deafness was diagnosed in 3 dogs (2 bilateral and 1 unilateral) allowing the remaining 40 Boxers to be included for normative data analysis including an evaluation on the influence of age on the BAEP. The animals were divided into 2 groups of 20 Boxers each based on age. The mean age was 4.54 years (range, 1-8) in group I, and 9.83 years (range, 8.5-12) in group II. The mean latency for I, III, and V waves were 1.14 (±0.07), 2.64 (±0.11), and 3.48 (±0.10) ms in group I, and 1.20 (±0.12), 2.73 (±0.15), and 3.58 (±0.22) ms in group II, respectively. The mean inter-peak latencies for the I-III, III-V and I-V intervals were 1.50 (±0.15), 0.84 (±0.15), and 2.34 (±0.11) ms in group I, and 1.53 (±0.16), 0.85 (±0.15), and 2.38 (±0.19) ms in group II, respectively. Latencies of waves I and III were significant different between group I and II. For the I-III, III-V and I-V intervals, no significant differences were observed between the 2 groups. As far as we know, this is the first normative study of BAEP obtained from Boxer dogs.(AU)

O potencial evocado auditivo de tronco encefálico (PEATE) tem sido amplamente utilizado com diferentes finalidades na prática veterinária e é comumente usado para identificar a surdez hereditária e a presbiacusia. No presente estudo, 43 cães da raça Boxer foram pelo teste PEATE. Foi diagnosticada surdez em 3 cães (2 bilaterais e 1 unilateral), e 40 Boxers foram usados no estudo normativo incluindo avaliação da influência da idade no PEATE. Os animais foram divididos de acordo com a idade em 2 grupos de 20 Boxers cada. A idade media foi 4,54 anos (variação de 1-8) no grupo I e 9,83 anos (variação de 8,5-12) no grupo II. A latência media das ondas I, III e V foram: 1,14 (±0,07); 2,64 (±0,11) e 3,48 (±0,10) ms no grupo I; e 1,20 (±0,12); 2,73 (±0,15) e 3,58 (±0,22) ms no grupo II, respectivamente. A latência media para os intervalos I-III, III-V e I-V foram 1,50 (±0,15); 0,84 (±0,15) e 2,34 (±0,11) ms no grupo I; e 1,53 (±0,16); 0,85 (±0,15) e 2,38 (±0,19) ms no grupo II, respectivamente. As latências das ondas I e III foram estatisticamente diferentes entre os grupos I e II. Não foram observadas diferenças estatísticas entre os dois grupos para os intervalos I-III, III-V e I-V. De acordo com a revisão realizada, este é o primeiro estudo normativo de BAEP realizado em cães da raça Boxer.(AU)