The primary aim of the research was to describe hearing function in a group of children with chronic renal dysfunction receiving treatment in an academic hospital in Johannesburg, South Africa. Specific objectives in the study were to determine the prevalence of hearing loss in paediatric patients with chronic renal dysfunction; to describe the type, degree and configuration of the hearing loss; and to establish if there was a relationship between the presenting hearing loss and the severity of renal dysfunction, the different treatment regimens, duration of renal dysfunction, and the duration of treatment. One hundred children between the ages five -18 years participated in the study and comprised 65 males and 35 females. The mean age of the participants was 11.68 years. A cross-sectional, descriptive, quantitative research design was employed. All participants underwent a case history interview and a full audiological examination which included an otoscopic examination, immittance testing (tympanometry and ipsilateral acoustic reflex testing), pure tone audiometry including extended high frequency testing up to 16 kilohertz as well as diagnostic distortion product otoacoustic emission testing. A record review was also done. Both descriptive and inferential statistics were used to analyse the collected data. Inferential statistics included parametric measures using multiple regression measures as well as non parametric measures using the Kruskal-Wallis statistical analysis. Results revealed that there was a high prevalence of hearing loss in children with chronic renal dysfunction. Results from the extended high frequency pure tone testing as well as the diagnostic distortion product testing revealed that the most common hearing loss was a low and high to ultrahigh frequency mild sensorineural hearing loss. The study showed that there was no relationship between the severity of hearing loss and the severity of renal dysfunction, or the duration of renal dysfunction and the duration of treatment. However, the study showed that there was a relationship between the severity of hearing loss and certain treatments, that is, v haemodialysis and the use of ototoxic medication such as loop diuretics, tuberculosis medication, and antimalarial medication. As the potential to miss hearing loss in this population is high, the research highlighted the importance of extended high frequency audiometry as well as diagnostic distortion product otoacoustic emission testing for the use of ototoxic monitoring in patients with chronic renal dysfunction. The research also highlighted the need for further research in this area as well as the need for educating medical personnel and caregivers working with children with chronic renal disease.

Background: Many hearing impaired children present with one or more health-related conditions, in addition to hearing loss. Families and professionals are therefore faced with numerous challenges when a child presents with co-morbidities of hearing loss. The implications for assessment, management and educational placement of these children are numerous. Appropriate plans for holistic intervention and education are essential for the development of the child as well as improved life quality. This study therefore aimed to describe the co-morbidities that pre-school children with hearing loss present with at the Centre for Language and Hearing Impaired Children (CLAHIC), and its implications for management. Method: A descriptive, retrospective research design was employed for the purpose of this study. A non-probability, purposive sampling strategy was implemented to select the records of children diagnosed with a hearing loss, and who have attended CLAHIC from 1999 to 2010. The records of 62 children were reviewed. Results: The more prevalent co-morbidities identified in this study were fine motor delay, gross motor delay, visual motor integration disorder, bilateral integration disorder , apraxia of speech and attention deficit hyperactivity disorder. Further findings of the study indicated that the co-morbidities of hearing loss are independent of the degree of the hearing loss. It was however found that there is an increased risk for fine-motor difficulties across the sample. Implications: The findings of this research suggest that pre-school children with hearing loss, irrespective of degree of hearing loss, should be screened and or monitored for the risk of prevalent co-morbidities, such as fine and gross motor difficulties. A collaborative, holistic and multi-disciplinary team approach should be implemented to ensure that services are provided to improve the life quality and development of the hearing impaired child.

Student Number : 0213468X - MPh dissertation - School of Public Health - Faculty of Health Sciences / Background: Noise Induced Hearing Loss (NIHL) is increasingly being regarded as one of the most important Occupational diseases, especially in the mining industry. As most mining houses have put systems in place to try and control this problem it remains to be seen if existing controls are effective in achieving the intended objective of preventing hearing loss. This study was conducted in one of the big South African Diamond mines, which has a well resourced Hearing Conservation Program. Objectives: This study was conducted with the purpose of establishing if there has been additional incidence of NIHL in noise exposed workers during the observation period of five years. The other objective of this study was to determine the effect of age. Study design and method: The population in this study was made up of permanent employees of the mine. They were divided into low risk and high risk groups according to the noise/acoustic zoning of their work areas by the mine’s Occupation Hygiene Section, with the low exposure group acting as the control group. A retrospective record review was done using the Occupational Health records in the mine’s Occupational Health Centre. The period of observation spanned 1 January 1999 – 31 December 2004 (inclusive). Trends of the collated data were used to compare the two exposure groups with regard to the various outcomes that are commonly associated with hazardous noise exposure. Results: The outcomes that were analyzed in this study were: Incidence Rates for NIHL, Notching and Down-sloping. All these were observed to have occurred more among the exposed group during the period of observation. The incidence rates, in particular, were found to 92.8 per thousand person years in the high exposure group and 52.3 per thousand person years in the low exposure group. The statistical test that was used was the z-test and the results were z=5.844 with a p<0.05. Having decided on a significance level of 5% for the statistical test, this result was found to be statistically significant. This can be regarded as some proof that the exposed group had a worse outcome than their non-exposed counterparts. Another observation that was made was that the incidence of NIHL was proportionately higher among the older study subjects. Conclusion: Since the exposed group of workers was found to show statistically significant incidence of NIHL compared to the low exposure group it shows that the current Hearing Conservation Program (HCP) that is employed by the mine is not effective in preventing NIHL. However there were some limitations in the study design that preclude generalization of these results. Therefore a recommendation was made for a prospective cohort study to address these limitations.

Early identification of hearing loss followed by a timely and effective intervention programme for children with hearing loss is necessary to minimise the negative effects of hearing loss on the development of cognition, psychosocial and verbal communication skills. Such early intervention programmes need to be multidisciplinary, technologically sound and most important, it should take cognisance of the specific context (community, country) in which the child and family function. The main aim of this study is to obtain accurate and reliable baseline information regarding current status of the early intervention process for children with hearing loss in Johannesburg, a Metropolitan City in a developing country. Self-administered questionnaires were handed out to obtain information from 19 hearing impaired childrens’ parents regarding the ages of suspicion of hearing loss, diagnosis and commencement of aural habilitation. The nature of diagnosis and the management of these children are also described. The findings indicate that children in the study were diagnosed and began habilitation late (mean age 24 months and 36months respectively) and that the management process is fragmented. The strengths in the current identification and follow-up process namely, parental involvement and established early intervention service structure are highlighted. Parents’ perceptions of the success and failures of the early intervention services were resolved. Key words: childhood hearing loss, parents/caregivers views, age of diagnosis, age of intervention, developing country

O Sistema de Frequência Modulada (FM) é um dispositivo de tecnologia assistiva desenvolvido para crianças com deficiência auditiva que utilizam aparelhos de amplificação sonora individual (AASI) e/ou implantes cocleares (IC) ou próteses ancoradas no osso. Por meio de um microfone/transmissor que transforma o sinal sonoro em ondas eletromagnéticas e de um receptor que converte a transmissão sem fio em sinal sonoro, o Sistema FM tem como objetivo suplantar condições desfavoráveis para compreensão da fala (ambientes ruidosos e/ou reverberantes, distância entre o indivíduo e a fonte sonora). A fim de contribuir para a atualização dos profissionais que trabalham com o Sistema FM após sua inserção no Sistema Único de Saúde (SUS), Alves (2016) desenvolveu o Portal Sistema FM, construído e validado em 2016, utilizando Teleducação. Para disseminar esse estudo brasileiro, Guedes (2017) iniciou sua localização para a língua inglesa norte-americana, criando o FM System Portal. Para completar a localização do Portal, este trabalho se propôs a: (1) inserir um novo material, o Guia rápido de orientação aos professores de estudantes que usam: Implante Coclear, AASI e Sistema FM, ao conteúdo presente no Módulo 4, após tradução, adaptação transcultural e validação linguística para a língua inglesa; (2) legendar os vídeos com áudio em língua portuguesa e substituir os links externos presentes por materiais semelhantes em inglês; e (3) revisar o conteúdo traduzido, considerando a evolução tecnológica e a existência de outros microfones remotos. Utilizando as diretrizes de Beaton et al. (2000), o Guia teve seus 48 itens validados linguisticamente por uma reunião de tradutores e peritos, que averiguaram as quatro áreas de equivalências necessárias: semântica, idiomática, experiencial e conceitual. A legendagem dos vídeos foi feita respeitando os parâmetros de legenda por meio do programa Subtitle Workshop 6.0b. A partir da revisão do conteúdo do site, foram feitas três grandes mudanças no FM System Portal. A primeira se refere ao nome do site, que foi atualizado para REMIC, novo título composto pela junção das sílabas iniciais de remote microfone (microfone remoto), que abrange novos conteúdos a serem atualizados no site, como materiais sobre o Sistema de Modulação Digital. A segunda se refere à sua hospedagem, tendo mudado de endereço e para um novo servidor que permite uma maior responsividade para dispositivos eletrônicos diferentes. A terceira se refere ao design, que foi modificado para facilitar a leitura e a impressão dos PDFs disponíveis no site. Apesar de o formato das páginas e da distribuição de algumas informações terem sido alterados, a identidade visual original permaneceu. As alterações que induziram à reformulação de alguns aspectos do site foram devidas às atualizações tecnológicas na área de saúde. Enquanto o surgimento do Portal Sistema FM ocorreu como resposta à sua inserção no SUS, sua reformulação propicia a inserção de informações sobre tecnologias mais atuais, como o Sistema de Modulação Digital, que já demonstrou ter maior eficácia no reconhecimento de fala que o FM. Para concluir a localização do REMIC, sugere-se uma validação funcional com profissionais audiologistas cuja língua materna seja a língua inglesa norte-americana. / The Frequency Modulation System (FM System) is a hearing technology device designed for hearing-impaired children who use hearing aids or cochlear implants or bone anchored prostheses. Through a microphone/transmitter that transforms sound signal into eletromagnetic waves and a receiver that transforms this wireless transmission back to sound signal, the FM system aims to overcome classroom conditions that interfere with speech comprehension (noisy or reverberating environments, distance between individual and sound source). After the FM system was included in Brazils Health System (SUS), Alves (2016) developed a website using tele-education to instruct professionals about the FM System. The Brazilian version of the website was designed and validated in 2016. To disseminate this Brazilian study globally, Guedes (2017) started to localize the website by translating it to American English, creating the FM System Portal. To complete the FM System Portal localization, this project aims to: (1) to translate, cross-culturally adapt and validate a new material, the Quick orientation guide for teachers of students who use: cochlear implants, hearing aids and FM System, in order to add it to Unit 4 (Guidelines for Parents and Teachers); (2) subtitle the videos that are in Brazilian Portuguese and replace external links with similar content; and (3) review the translated content, considering technological evolution and the existence of other remote microphones. Using the guidelines of Beaton et al. (2000), the \"Guide\" had its 48 items validated linguistically by an expert committee review, who ascertained its translation met the four areas of equivalence: semantic, idiomatic, experiential and conceptual. Using the program Subtitle Workshop 6.0b, the videos were subtitled according to subtitling standards. From the site content review, three major changes were made to the FM System Portal. First, the name of the website changed to REMIC, title composed by the initial syllables of remote microphone, which encompasses new contents to be updated on the site, such as information on the Digital Modulation System. Second, the website changed to a new server, allowing greater responsiveness to different electronic devices. Third, the design was modified to make the PDFs available on the site easier to read and print. Although the layout of the pages and the distribution of some information were altered, the original visual identity remained. The changes that led to the reformulation of some aspects of the website were due to the technological updates in Hearing Health. The Brazilian version of the FM System Portal was developed because the device was included in SUS, the alterations on the website facilitate the insertion of information on more current technologies, such as the Digital Modulation System, which has already been shown to be more effective in speech recognition than the FM System. In order to complete REMIC\'s localization, a functional validation with Audiologists whose mother tongue is American English is suggested.

A surdez pode ser causada por fatores ambientais, genéticos ou ambos. Do ponto de vista genético, a surdez é extremamente heterogênea, pois é condicionada por mutações em diversos genes localizados em diferentes cromossomos, podendo exibir mecanismos de herança diversos. O objetivo desse estudo foi identificar novos genes e mutações relacionados à perda auditiva de herança autossômica dominante. Foram estudadas molecularmente cinco famílias. A família 1 foi averiguada na cidade de Maringá-PR. Apresenta 20 indivíduos afetados pela síndrome Oto-branquial (BOS). Estudos de mapeamento gênico com arrays de SNPs mostraram um Lod Score sugestivo de ligação para uma região do cromossomo 8, onde está localizado o gene EYA1, já relacionado à síndrome. O sequenciamento dos exons do gene não revelou mutação. No entanto, estudos de array-CGH e de PCR em tempo real permitiram detectar uma duplicação de aproximadamente 86 kb no gene EYA1 em 11 dos 12 indivíduos afetados testados da família, ausente nos indivíduos fenotipicamente normais. Portanto, concluímos que a síndrome nessa família é decorrente dessa duplicação, nunca antes descrita em casos de BOS. A família 2 foi averiguada na cidade de São Miguel-RN, com 16 indivíduos afetados por perda auditiva de herança autossômica dominante não sindrômica. Estudos de mapeamento gênico com marcadores moleculares do tipo microssatélites e cálculos de Lod Score indicaram uma região no cromossomo 3 como candidata a conter o gene responsável pelo fenótipo na família. Estudos de sequenciamento massivo em paralelo da amostra de um indivíduo afetado apontaram três variantes missense em heterozigose como sendo as mais prováveis causas do fenótipo, mas duas delas foram excluídas com base em estudos de segregação. A terceira variante foi triada em uma coleção de 47 amostras de probandos de famílias com surdez autossômica dominante, mas não foi encontrada. Há estudos em andamento buscando confirmar seu papel na surdez hereditária. A família 3 foi averiguada na cidade de São Paulo-SP e apresenta 15 indivíduos afetados por perda auditiva de herança autossômica dominante não sindrômica. Estudos de mapeamento gênico com o uso de arrays de SNPs e cálculos de Lod Score mapearam uma região no cromossomo 20 como candidata a conter o gene responsável pelo fenótipo. Estudos de sequenciamento massivo em paralelo de amostras de dois indivíduos afetados apontaram três variantes missense em heterozigose como as mais prováveis causas do quadro. Estudos de segregação excluíram duas das variantes e a terceira variante foi triada na coleção de 47 amostras de probandos de famílias com surdez de herança dominante, mas não foi encontrada. Outros estudos estão em andamento para verificar seu papel na surdez. A família 4 foi averiguada na cidade de Porto Alegre-RS e apresenta 11 indivíduos afetados por perda auditiva de herança autossômica dominante não sindrômica. Estudos de mapeamento genético com o uso de arrays de SNPs e de cálculo de Lod Score mapearam duas regiões, nos cromossomos 14 e 22, como candidatas a conter o gene responsável. Estudos de sequenciamento massivo em paralelo em amostras de três indivíduos afetados apontaram 3 variantes missense em heterozigose nas regiões mapeadas (duas no cromossomo 14 e uma no cromossomo 22). Observamos que somente a variante rs80338828 no gene MYH9, no cromossomo 22, segrega com o fenótipo. Essa variante já foi previamente relacionada à perda auditiva de herança autossômica dominante e provavelmente explica a perda auditiva na família. A família 5 foi averiguada na cidade de São Paulo-SP e apresenta 30 indivíduos afetados por perda auditiva de herança autossômica dominante e não sindrômica. Estudos de ligação com arrays de SNPs e cálculos de Lod Score não apontaram a região candidata devido a limitações computacionais e à estrutura da genealogia. Estudos de sequenciamento massivo em paralelo de amostras de quatro indivíduos afetados apontaram 13 variantes presentes nos quatro, em heterozigose. Foram selecionadas para estudo duas das variantes, uma no gene MYO3A, por se tratar de um gene já relacionado à perda auditiva e uma no gene LONP2, por se tratar de uma mutação de códon de parada prematuro. Estudos de segregação mostraram que a variante no gene LONP2 não segrega com o fenótipo na família e que a variante no gene MYO3A parece segregar com o fenótipo, exceto por sua ausência em um indivíduo afetado e sua presença em sete indivíduos aparentemente normais, que poderiam ser não-penetrantes. Mutações no gene MYO3A já foram relacionadas previamente à perda auditiva de herança autossômica recessiva, mas chama a atenção o fato do padrão de herança nessa família ser o dominante. Mais estudos são necessários para confirmar o papel dessa e de outras variantes no fenótipo da família. Portanto, o estudo molecular das cinco famílias revelou dois possíveis novos genes de surdez, um novo mecanismo mutacional na síndrome BOS, mutação em gene já conhecido e hipótese de novo mecanismo de herança para mutação no gene MYO3A / Deafness can be caused by environmental factors, genetic factors or both. Genetic deafness is highly heterogeneous, because it is caused by mutations in many genes located in different chromosomes and can be explained by different inheritance patterns. The aim of this study was to identify new genes and search for new mutations related to autosomal dominant hearing loss. Five families were selected for molecular studies. Family 1 was ascertained in Maringá-PR. It includes 20 individuals affected by Branchio-oto syndrome (BOS). Genomic scanning with SNP arrays showed suggestive Lod scores on a region at chromosome 8, where the EYA1 gene is located, already known to be related to this syndrome. Sequencing of all exons of the gene did not reveal the mutation. However, array-CGH and real time PCR studies detected a duplication of 86 kb on EYA1 gene, in 11 of the 12 affected individuals tested, and it was absent in the unaffected individuals. Our findings implicate this EYA1 duplication in the BOS1 phenotype observed in the pedigree. Large duplications in EYA1 gene were not reported before. Family 2 was ascertained at São Miguel-RN, with 16 individuals affected by non syndromic autosomal dominant hearing loss. Genomic scanning with microsatellites and Lod score calculations mapped a region at chromosome 3 as candidate to contain the gene responsible for the phenotype in the family. Massive Parallel Sequencing of a sample from one affected individual indicated 3 missense variants in heterozygosis that could explain the phenotype. Two variants were excluded after segregation studies. The third variant was screened in a cohort of 47 probands from families with individuals affected by autosomal dominant hearing loss and it was not detected. Further studies are needed to confirm its role in hearing loss. Family 3 was ascertained in São Paulo-SP and presents 15 individuals affected by non syndromic autosomal dominant hearing loss. Genomic scanning with SNP arrays and Lod score calculations suggested a region at chromosome 20 as the candidate to contain the gene that causes the phenotype. Massive Parallel Sequencing with samples from two affected individuals suggested 3 missense variants in heterozygosis that could explain the phenotype. Two variants were excluded after segregation studies and one variation was selected as the best candidate to explain the phenotype. We searched for this variant in a cohort of 47 probands from families with individuals affected by autosomal dominant hearing loss and it was not detected. Other studies are being conducted to confirm the role of this variation in deafness. Family 4 was ascertained at Porto Alegre-RS and presents 11 individuals affected by non syndromic autosomal dominant hearing loss. Genomic scanning with SNP arrays and Lod score calculations indicated two regions, at chromosomes 14 and 22, as the best candidates to contain the hearing loss gene. Massive Parallel Sequencing studies with samples from 3 affected individuals indicated 3 missense variants in heterozygosis (two variants at chromosome 14 and one at chromosome 22). We observed that only the variant rs80338828, in MYH9 gene, in chromosome 22, segregates with the phenotype. This variant was previously related to autosomal dominant hearing loss and probably explains the phenotype observed in this family. Family 5 was ascertained at São Paulo-SP and presents 30 individuals affected by non syndromic autosomal dominant hearing loss. Genomic scanning with SNP arrays and Lod score calculations did not indicate candidate regions due to computer limitations. Massive Parallel Sequence studies with samples from four affected individuals suggested 13 candidate variants, in heterozygosis. Two variants were selected for further studies: one in MYO3A, previously related to hearing loss, and one in LONP2 gene, a nonsense mutation. Segregation studies showed the LONP2 variant did not segregate with the phenotype and MYO3A variant seems to segregate with the phenotype, except for its absence in one affected individual and its presence in seven unaffected ones, who could be nonpenetrants. Mutations in MYO3A were previously related to autosomal recessive hearing loss, but the family described here presents autosomal dominant pattern of inheritance. More studies are needed to explain the role of this variant in the phenotype. Thus, the molecular study of five pedigrees revealed two novel candidate genes for deafness, one novel mutation mechanism in BOS, a mutation in one previously known gene and the possibility of a novel inheritance mechanism for a MYO3A mutation.

A perda auditiva no idoso acarreta em dificuldade na percepção da fala. O teste comumente utilizado na logoaudiometria é a pesquisa do índice de reconhecimento de fala máximo (IR-Max) em uma única intensidade de apresentação da fala. Entretanto, o procedimento mais adequado seria a realização do teste em diversas intensidades, visto que o índice de acerto depende da intensidade da fala no momento do teste e está relacionado com o grau e configuração da perda auditiva. A imprecisão na obtenção do IR-Max poderá gerar uma hipótese diagnóstica errônea e o insucesso no processo de intervenção na perda auditiva. Objetivo: Verificar a interferência do nível de apresentação da fala, no teste de reconhecimento de fala, em idosos com perda auditiva sensorioneural com diferentes configurações audiométricas. Métodos: Participaram 64 idosos, 120 orelhas (61 do gênero feminino e 59 do gênero masculino), idade entre 60 e 88 anos, divididos em grupos: G1- composto por 23 orelhas com configuração horizontal, G2- 55 orelhas com configuração descendente, G3- 42 orelhas com configuração abrupta. Os critérios de inclusão foram: perda auditiva sensorioneural de grau leve a severo, não usuário de aparelho de amplificação sonora individual (AASI), ou com tempo de uso inferior a dois meses, e ausência de alterações cognitivas. Foram realizados os seguintes procedimentos: pesquisas do limiar de reconhecimento de fala (LRF), do índice de reconhecimento de fala (IRF) em diversas intensidades e do nível de máximo conforto (MCL) e desconforto (UCL) para a fala. Para tal, foram utilizadas listas com 11 monossílabos, para diminuir a duração do teste. A análise estatística foi composta pelo teste Análise de Variância (ANOVA) e teste de Tukey. Resultados: A configuração descendente foi a de maior ocorrência. Indivíduos com configuração horizontal apresentaram índice médio de acerto mais elevado de reconhecimento de fala. Ao considerar o total avaliado, 27,27% dos indivíduos com configuração horizontal revelaram o IR-Max no MCL, assim como 38,18% com configuração descendente e 26,19% com configuração abrupta. O IR-Max foi encontrado no UCL, em 40,90% dos indivíduos com configuração horizontal, 45,45% com configuração descendente e 28,20% com configuração abrupta. Respectivamente, o maior e o menor índice médio de acerto foram encontrados em: G1- 30 e 40 dBNS; G2- 50 e 10 dBNS; G3- 45 e 10 dBNS. Não há uma única intensidade de fala a ser utilizada em todos os tipos de configurações audiométricas, entretanto, os níveis de sensação que identificaram os maiores índices médios de acerto foram: G1- 20 a 30 dBNS, G2- 20 a 50 dBNS; G3- 45 dBNS. O MCL e o UCL-5 dB para a fala não foram eficazes para determinar o IR-Max. Conclusões: O nível de apresentação teve influência no desempenho no reconhecimento de fala para monossílabos em idosos com perda auditiva sensorioneural em todas as configurações audiométricas. A perda auditiva de grau moderado e a configuração audiométrica descendente foram mais frequentes nessa população, seguida da abrupta e horizontal. / Hearing loss in elderly causes difficulty in speech perception. The test commonly used in speech audiometry is the search for the maximum speech recognition score (PB-Max) in a single presentation intensity of speech. However, the most adequate procedure would be the test at multiple intensities considering that the correct level depends on the intensity of the speech at the moment of the test and is related to the degree and configuration of hearing loss. The imprecision in obtaining the PB-Max can produce an erroneous diagnostic hypothesis and failure in the intervention process in hearing loss. Purpose: To verify the interference of the level of speech presentation, through the speech recognition test, in elderly patients with sensorineural hearing loss with different audiometric configurations. Methods: Participants were 64 elderly, 120 ears (61 females and 59 males), ages ranging from 60 to 88, divided into three groups: G1- comprising 23 ears with flat configuration, G2- 55 ears with gradually sloping, G3- 42 ears with steeply sloping configuration. The criteria of inclusion of individuals were: sensorineural hearing loss from mild to severe degree, no hearing aid users, or period of use lower than two months, and absence of any cognitive impairment. The following procedures were performed: speech recognition threshold (SRT), word recognition scores at multiple intensities, most comfortable loudness level (MCL) and uncomfortable loudness level (UCL) using speech stimuli. For the procedure above, lists of 11 monosyllabic words were presented, in order for the test duration to be reduced. Statistical analysis was made by the test Analysis of Variance (ANOVA) and Tukey\'s test. Results: The gradually sloping configuration was the most common. Subjects with flat configuration showed higher correct mean level in speech recognition. Considering the total ears assessed, 27.27% of subjects with flat configuration revealed the PB-max in MCL, as well as, 38.18% with gradually sloping and 26.19% with steeply sloping configuration. The PB-max was found in the UCL, in 40.90% of the subjects with a flat configuration, 45.45% with gradually sloping configuration and 28.20% with steeply sloping configuration. Respectively, the highest and the lowest correct mean indexes were found: G1- 30 and 40 dB SL; G2- 50 and 10 dB SL; G3- 45 and 10 dB SL. There is not a single speech intensity to be used in all types of audiometric configurations, however, the sensation levels that identified the correct mean levels were found: G1 - 20-30 dB SL, G2 - 20-50 dB SL; G3 - 45 dB SL. The MCL and UCL-5 dB using speech stimuli, were not effective to determine the PB-Max. Conclusion: The presentation level influenced the performance in speech recognition for monosyllables in elderly patients with sensorineural hearing loss in all audiometric configurations. Moderate hearing loss and gradually sloping configuration were more frequent in this population, followed by steeply sloping and flat configuration.

A audição representa a principal fonte para o aprendizado da fala e linguagem durante a infância e a surdez e a privação de estímulos auditivos pode implicar em dificuldades emocionais e sociais àqueles indivíduos afetados. Aproximadamente 360 milhões de pessoas sofrem de perda auditiva no mundo, o que corresponde a 5,3% da população mundial. A surdez pode se desenvolver em decorrência de causas genéticas (hereditárias), não-genéticas e ambientais. As infecções pré-natais e a exposição a ruídos constituem as causas ambientais mais comuns. Já a surdez hereditária, constitui o transtorno neurossensorial mais comum em humanos, com uma prevalência de 1:1000 nascidos vivos. Mais de 70% dos casos de surdez hereditária constituem casos não-sindrômicos, destes cerca de 70% cursam com surdez congênita ou pré-lingual. Na maioria dos casos, a perda auditiva hereditária é neurossensorial, heterogênea, com diferentes padrões de herança e com uma grande quantidade de genes envolvidos. Estudos têm demonstrado o importante papel dos genes GJB2, GJB6 e SLC26A4 na fisiologia do ouvido interno e alterações nestes genes têm sido relatadas como causa da surdez hereditária. Desta forma, o objetivo deste estudo foi investigar a base genética e o papel do gene SLC26A4 na perda auditiva neurossensorial (PANS) nãosindrômica pré-lingual em pacientes atendidos pelo serviço de Genética Médica do Hospital das Clínicas de Ribeirão Preto. Para isso, uma série de 88 casos foi investigada quanto a características clínicas e moleculares. A amostra abrangeu indivíduos de ambos os sexos, com idade de 2 a 63 anos, provenientes de 88 famílias diferentes, assistidos durante o período de 2003 a 2013. As amostras foram triadas pela técnica de High Resolution Melting (HRM) e em seguida levadas para o seqüenciamento para caracterização das alterações. Na série de casos estudada, 23,9% (21/88) dos pacientes portadores de surdez neurossensorial não-sindrômica pré-lingual evidenciaram alterações nos genes GJB2, GJB6 e SLC26A4 sugeridas como patogênicas. A prevalência de alterações no gene SLC26A4 foi de 28,4% (25/88), não relacionada à Síndrome do Aqueduto Vestibular Alargado (SAVA). Dentre as 11 alterações encontradas neste gene, três constituem mutações não descritas: p.Gly139Arg, p.Ile254Val, p.Asn382Lys. Os genótipos mais freqüentes neste estudo foram a c.35delG/c.35delG no gene GJB2 (5/88), a dupla heterozigose com o gene GJB6 c.35delG/del(GJB6-D13S1854) (3,4%) e chr7:g.107301238C>G/wt no gene SLC26A4 (10,2%). Entretanto, apenas 19,3% dos indivíduos apresentaram genótipos sugeridos como responsáveis pelo fenótipo estudado. Alterações particulares no gene SLC26A4 podem sugerir a explicação para a surdez genética para aproximadamente 9,1% destes casos. Destes, cinco casos de heterozigose preditas como patogênicas (p.Ile300Leu; p.Asn324Tyr e p.Asn382Lys), dois casos de heterozigose composta (chr7:g.107301201T>C/chr7:g.107301238C>G e chr7:g.107301238C>G/p.Gly139Arg) e um caso de dupla heterozigose com GJB2 (chr7:g.107301238C>G/c.35delG). Isto ressalta a importância do gene SLC26A4 para o diagnóstico molecular de surdez hereditária e reforça a sua potencial contribuição para o processo de aconselhamento genético. Entretanto, nossos dados sugerem a necessidade de testes funcionais a fim de elucidar o papel destas alterações para o estabelecimento do fenótipo, como também, a presença de outros genes ou regiões envolvidas naqueles casos em que mutações monoalélicas não foram suficientes para justificar o fenótipo. / The hearing is the main source for learning speech and language during childhood and deafness and deprivation of auditory stimuli can result in emotional and social difficulties to those affected individuals. Approximately 360 million people suffer from hearing loss worldwide which corresponds to 5.3% of the world population. Deafness may develop due to genetic (hereditary), non-genetic and environmental causes. Prenatal infections and exposure to noise are the most common environmental causes. Hereditary deafness is the most common sensorineural disorder in humans, with a prevalence of 1:1000 live births. More than 70% of hereditary deafness cases are nonsyndromic, about 70% of these occur with congenital or prelingual deafness. In most cases, inherited sensorineural hearing loss is heterogeneous, with different patterns of inheritance and with a large number of genes involved. Studies have shown the important role of genes GJB2, GJB6 and SLC26A4 in the physiology of the inner ear and changes in these genes have been reported as cause of hereditary hearing loss. Thus, the aim of this study was to investigate the genetic basis and the role of SLC26A4 gene in non-syndromic prelingual sensorineural hearing loss (SNHL) in patients enrolled in the Medical Genetics Service of Hospital das Clínicas de Ribeirão Preto. For this, a series of 88 cases were submitted to a clinical and molecular investigation. The sample consisted of individuals of both sexes, aged 2-63 years from 88 different families, assisted during the period 2003-2013. The samples were screened by the technique of High Resolution Melting (HRM) and then taken for sequencing to characterize the mutations. In the series of cases studied, 23.9% (21/88) of patients with non-syndromic prelingual sensorineural deafness showed variants in genes GJB2, GJB6 and SLC26A4 suggested as pathogenic. The prevalence of mutations in the SLC26A4 gene was 28.4% (25/88), not related to non-syndromic EVA. Among the 11 mutations found in this gene, three are reported as novel mutations: p.Gly139Arg, p.Ile254Val, p.Asn382Lys. The most frequent genotypes found in this study were the c.35delG/c.35delG in GJB2 gene (5/88), the double heterozygosity with GJB6 gene c.35delG/del(GJB6-D13S1854) (3,4%) and chr7:g.107301238C>G/wt in the SLC26A4 gene (10,2%). However, only 19.3% of subjects presented genotypes suggested as responsible for the studied phenotype. Particular mutations in the SLC26A4 gene may suggest the explanation for the genetic deafness to approximately 9.1% of these cases. Of these, five cases of heterozygosity predicted as pathogenic (p.Ile300Leu; p.Asn324Tyr and p.Asn382Lys), two cases of compound heterozygosity (chr7:g.107301201T>C/chr7:g.107301238C>G and chr7:g.107301238C>G/p.Gly139Arg) and one case of double heterozygosity with GJB2 gene (chr7:g.107301238C>G/c.35delG). Those data highlights the importance of the SLC26A4 gene for molecular diagnosis of hereditary hearing loss and give strength to its potential contribution to the genetic counseling process. However, our data suggest the need for functional tests in order to elucidate the role of these changes to the phenotype, as well as the presence of other genes or regions involved in those cases that monoallelic mutations were not sufficient to justify the phenotype.

O ruído ocupacional é considerado o problema que mais atinge o sistema auditivo do trabalhador brasileiro, perturba o trabalho, o descanso, o sono e a comunicação nos seres humanos; prejudica a audição e pode causar ou provocar reações psicológicas, fisiológicas e talvez até patológicas, afetando diretamente a qualidade de vida. A perda auditiva induzida por níveis de pressão sonora elevados (PAINPSE) é considerada uma entre as dez principais etiologias de perdas auditivas populacionais, sendo que, de todas as causas de lesão auditiva, é a que apresenta maior possibilidade de prevenção. Os efeitos auditivos encontrados em trabalhadores portadores da PAINPSE imitam a funcionalidade auditiva, provocando alteração de sensibilidade auditiva, alterações na seletividade de frequências, na resolução temporal e espacial, recrutamento e zumbido. Tais alterações influenciam diretamente a discriminação auditiva, dificultando a percepção, principalmente, dos sons da fala, podendo, também, alterar o padrão de fala de acordo com o grau da perda. O investimento em implantação de programas de conservação auditiva possibilita minimizar os problemas de saúde geral e auditiva, assim como a ocorrência da PAINPSE, promovendo melhor qualidade de vida ao trabalhador. Um trabalho intensivo de promoção da saúde auditiva ou prevenção de perdas auditivas deve ser enfatizado, principalmente para trabalhadores expostos a níveis elevados de ruído ocupacional, além da utilização, de forma adequada, de equipamento de proteção auditiva individual. Sendo assim este estudo teve por objetivo elaborar um material multimídia em tele-educação sobre prevenção de perdas auditivas de origem ocupacional para ser disponibilizado pelas equipes de profissionais do Centro de referência em saúde do trabalhador (CEREST), Rede Nacional de Atenção Integral à Saúde do Trabalhador (RENAST) e agentes comunitários, em consonância com os objetivos do CEREST. A elaboração do CD-ROM contribuirá para os programas de educação em saúde auditiva fornecendo informações a respeito dos riscos causados por níveis de pressão sonora elevada (NPS). / Occupational noise is considered the issue that most affects the hearing system of the Brazilian worker, disrupts work, rest, sleep and communication in humans, impairs hearing and may cause or provoke psychological reactions, physiological and maybe even pathological, affecting directly to quality of life. Hearing loss induced by high sound pressure levels (PAINPSE) is considered one of the top ten causes of hearing loss population, and of all-cause hearing damage, it has the greatest possibility of prevention. Hearing loss induced by high sound pressure levels (PAINPSE) is considered one of the top ten causes of hearing loss population, and of all-cause hearing damage, it has the greatest possibility of prevention. Auditory effects found in workers with PAINPSE mimic the functionality of the hearing, causing changes in hearing sensitivity, alterations in frequency selectivity, the temporal and space resolution, recruitment and tinnitus. These changes directly affect hearing discrimination, making the perception, especially speech sounds, it can also change the default speech according to the level of loss. Investment in implementation of hearing conservation programs enables minimizing the general health problems and hearing, as well as the occurrence of PAINPSE, promoting better quality of life to the worker. A intensive work health promotion hearing or hearing loss prevention should be emphasized, especially for workers exposed to high levels of occupational noise, and the use, as appropriate, of individual hearing protection equipment. Therefore, this study had the objective elaborate a multimedia teleducation materials on prevention of occupational hearing loss to be provided by teams of professionals from health reference center worker (CEREST), National Network of Integrated Healthcare Workers (RENAST) and community, in line with the objectives of CEREST. The development of the CD-ROM will help education programs in hearing health providing information about the risks caused by high sound pressure levels (SPL).

Para a adequada implantação de um Programa de Concessão, Adaptação e Acompanhamento do Sistema FM em estudantes com deficiência auditiva nas escolas brasileiras é necessário um trabalho intersetorial, caracterizado por uma cuidadosa articulação entre os Sistemas Educacional e de Saúde. As ações em rede integrarão os diferentes níveis de atenção da pessoa com deficiência auditiva, conforme a nova política interministerial Viver Sem Limites. O objetivo deste estudo foi desenvolver e analisar a eficácia de um ambiente virtual de transmissão de informações sobre Sistema FM para profissionais utilizando a Teleducação Interativa. Devido à distribuição geográfica dos profissionais que atuam com a adaptação do Sistema FM em alunos usuários de Sistema FM foi proposto o acesso aos módulos à distância (Teleducação) via internet por meio do Portal Sistema FM disponibilizado em endereço eletrônico http://portalsistemafm.fob.usp.br/. O portal é composto por 7 módulos, sendo que todos os materiais foram transformados em infográficos, com possibilidade de download. Realizaram o cadastro no Portal Sistema FM 50 profissionais que atuam em Serviços de Saúde Auditiva credenciados pelo SUS, sendo que 31 fonoaudiólogos avaliaram o Portal Sistema FM. Para a avaliação do programa de capacitação foram propostos os instrumentos Ficha de Pesquisa Motivacional, Escala de Autoavaliação de Impacto do Treinamento no trabalho - medida de amplitude e um Questionário sobre o conteúdo teórico, todos contidos em um módulo do Portal. Os fonoaudiólogos, respondendo a Ficha de Pesquisa Motivacional, consideraram o Portal Sistema FM com expectativa para o sucesso. A Escala de Impacto no Trabalho demonstrou que o acesso aos módulos do Portal Sistema FM gerou um impacto no trabalho dos participantes, quando aplicado após o primeiro acesso e dois meses depois, porém não foi indicada diferença estatisticamente significante quando comparadas. No questionário sobre o conteúdo teórico os participantes obtiveram uma média de 79,03% de acerto. O Portal Sistema FM foi criado e encontra-se disponível no endereço eletrônico http://portalsistemafm.fob.usp.br/, sendo avaliado como um portal impressionante quanto à motivação dos participantes. O acesso aos módulos trouxe impacto no trabalho dos profissionais. / In order to proffer a proper implementation program for Concession, Adaptation and Monitoring of the FM System used by students with hearing loss in Brazilian Schools, an intersectoral work is needed, characterized by a careful articulation between the Educational System and the Health System. The actions will integrate different levels of attention required from people with hearing loss, as the new inter-ministerial policy, Living Without Limits, encourages. This study aims to develop an analysis of the effectiveness, when using a virtual environment to instruct professionals through Interactive Tele education about the FM System. Due to their geographical distribution, the professionals who work with the adaptation of the FM system, access the modules from distance (tele-education), this access was proposed via internet, through the FM System Portal available at an electronic address http://portalsistemafm.fob.usp.br/. The portal consists in 7 modules, and all the material collected are also available in infographics, and it is possible to download them. Fifty professionals that work in Hearing Health Services accredited by SUS realized their enrollment at the FM System Portal, but only 31 speech therapists evaluated the FM System Portal. In order to evaluate the training program, the following search instruments were proposed: Motivational form, Self-assessment Scale of the impact at work after the training - Amplitude measuring and Theoretical content questionnaire, all exhibited in the Portal on proper module.22. The speech therapists answering to the Motivational Form affirmed that the FM System Portals prospects for success. The Scale of impact at Work showed that access to FM System Portal modules generated an impact at the participants work, when applied after the first access and also two months later, but it didnt indicate statistically a significant difference when compared among themselves. At the questionnaire applied on the theoretical content, participants gained an average of 79.03% accuracy. The FM System Portal was created and it is available at http://portalsistemafm.fob.usp.br/, and the users evaluated it as an impressive portal, when it comes to the motivation of the participants. The access to the modules available brought a considerable impact at the professionals work.