Hearing test results of 23 dentists obtained before and after working hours are compared to determine if dentists experience any temporary hearing loss. The aim of the project is to determine whether dental drills cause hearing loss and to document the consequences of the loss. Hearing evaluations include pure-tone audiometry, middle-ear testing, and measurements of otoacoustic emissions. The results are expected to convince dentists of the danger of noise exposure and the need for hearing protection

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Thesis (M. Sc. (Nursing Science)) --University of Limpopo, 2017. / Refer to the document

Hereditary hearing loss is the most common sensory disorder, affecting 1 in 500 newborns. There are more than 538 million individuals with genetic hearing loss worldwide and this number is expected to grow to 1 billion over the next three decades. Currently, the only option for individuals with hearing loss is mechanical intervention such as hearing aids or cochlear implants. In the past decade, many studies have highlighted the need for personalized gene therapy or molecular intervention to treat genetic deafness. However, in order to fulfill this vision a comprehensive understanding of the intricate mutation-gene-phenotype nuances and relationships is required. Toward this goal, we unraveled novel mutation-gene-phenotype associations and mechanisms in four deafness-causing genes (CIB2, COL11A1, CEACAM16 and DFNA5), by using a combination of in-depth phenotyping, human genetics, cutting edge genomic technologies, murine mutant models, and functional assays. These novel insights revealed mutations in CIB2 do not cause Usher Syndrome, mutations in COL11A1 can cause either non-syndromic or syndromic hearing loss, CEACAM16-related deafness is due to two distinct mechanisms, loss of function and gain of function, and coding variants can influence mRNA assembly and cause DFNA5-related hearing loss. Elucidating these novel mutation-gene-phenotype relationships has improved our knowledge of the pathogenic mechanisms underlying hearing loss and provided much needed answers to individuals seeking a diagnosis for their deafness. Recognizing the complexities associated with genetic hearing loss and the challenges in interpreting the clinical significance of genetic variants, we established the first deafness-specific variant database, the Deafness Variation Database (DVD), which classifies over 876,000 variants across 152 deafness-associated genes. This breadth of data provided us with a unique opportunity to explore the molecular landscape of deafness. We show that over 96% of coding variants are rare and novel and that mutational signatures are unique to each gene and are driven by minor allele frequency thresholds, variant effect, and protein domain. The mutational landscape we define shows complex gene-specific variability, making an understanding of these nuances foundational for improved accuracy in variant interpretation. Overall the work presented in this thesis improves our understanding of deafness biology, identifies novel targets for therapeutics and enhances clinical decision-making.

Deafness is the most common sensory deficit in humans, affecting 278 million people worldwide. Non-syndromic hearing loss (NSHL), hearing loss not associated with other symptoms, is the most common type of hearing loss and most NSHL in developed countries is due to a genetic cause. The inner ear is a remarkably complex organ, and as such, there are estimated to be hundreds of genes with mutations that can cause hearing loss. To date, 62 of these genes have been identified. This extreme genetic heterogeneity has made comprehensive genetic testing for deafness all but impossible due to low-throughput genetic testing methods that sequence a single gene at a time. The human genome project was completed in 2003. Soon after, genomic technologies, including massively parallel sequencing, were developed. MPS gives the ability to sequence millions or billions of DNA base-pairs of the genome simultaneously. The goal of my thesis work was to use these newly developed genomic technologies to create a comprehensive genetic testing platform for deafness and use this platform to answer key scientific questions about genetic deafness. This platform would need to be relatively inexpensive, highly sensitive, and accurate enough for clinical diagnostics. In order to accomplish this goal we first determined the best methods to use for this platform by comparing available methods for isolation of all exons of all genes implicated in deafness and massively parallel sequencers. We performed this pilot study on a limited number of patient samples, but were able to determine that solution-phase targeted genomic enrichment (TGE) and Illumina sequencing presented the best combination of sensitivity and cost. We decided to call this platform and diagnostic pipeline OtoSCOPE®. Also during this study we identified several weaknesses with the standard method for TGE that we sought to improve. The next aim was to focus on these weaknesses to develop an improved protocol for TGE that was highly reproducible and efficient. We developed a new protocol and tested the limits of sequencer capacity. These findings allowed us to translate OtoSCOPE® to the clinical setting and use it to perform comprehensive genetic testing on a large number of individuals in research studies. Finally, we used the OtoSCOPE® platform to answer crucial questions about genetic deafness that had remained unanswered due to the low-throughput genetic testing methods available previously. By screening 1,000 normal hearing individuals from 6 populations we determined the carrier frequency for non-DFNB1 recessive deafness-causing mutations to be 3.3%. Our findings will also help us to interpret variants uncovered during analysis of deafness genes in affected individuals. When we used OtoSCOPE® to screen 100 individuals with apparent genetic deafness, we were able to provide a genetic diagnosis in 45%, a large increase compared to previous gene-by-gene sequencing methods. Because it provides a pinpointed etiological diagnosis, genetic testing with a comprehensive platform like OtoSCOPE® could provide an attractive alternative to the newborn hearing screen. In addition, this research lays the groundwork for molecular therapies to restore or reverse hearing loss that are tailored to specific genes or genetic mutations. Therefore, a molecular diagnosis with a comprehensive platform like OtoSCOPE® is integral for those affected by hearing loss.

Background: Limited access of oral language caused by hearing loss poses a risk for the development of reading problems. A functional overlap in outcomes between children fit with hearing aids (HAs) and children provided with cochlear implants (CIs) results in a gray area in pediatric CI candidacy criteria. This gray area makes it more difficult to determine which device will provide the best developmental outcomes for children with borderline CI eligibility. Objective: In an effort to gain outcome data that could inform decision-making regarding CI versus HA candidacy, the question posed in this study concerned the speech intelligibility index (SII) levels of children with HAs that were comparable to children with CIs based upon reading outcomes of both groups. Methods: The study sample comprised of 77 children between the ages of 6;10 and 9;6 with hearing loss: 58 children with HAs and 19 children with CIs. Reading performance data was obtained using the Word Attack and Passage Comprehension subtests of the Woodcock Reading Mastery Tests. SII information was obtained for the HA group. To allow a comparison of reading performance relative to SII between children with CIs and children with HAs, multiple imputation was used to estimate a functional SII for the CI group based off the available reading information. Results: Children in the HA and CI groups demonstrated overall similar reading performance. The relationship between aided SII and reading in the HA group was found to be three times as large as that found for unaided PTA and reading. Children in the CI group were found to have reading abilities similar to children in the HA group with known SIIs of 0.73. Functional SII was imputed for the CI group with strong relative efficiency, but because confidence intervals were rather large, more data is needed in order to make statements with greater levels of confidence regarding implications for CI candidacy criteria.

Research endeavoring to determine the effect of a mild sensorineural hearing-impairment on academic performance has resulted in conflicting conclusions. To date, there has been limited research on the educational implications of a mild hearing loss in the elementary grades but very few studies have utilized a normal-hearing control group to compare with the hearing-impaired and none have examined whether a relationship exists beyond sixth grade. This study measured the academic performance of mildly hearing-impaired children by comparing them with their normal-hearing counterparts. The achievement scores of the Iowa Test of Basic Skills from twelve pairs of children in the 5th through 8th grades were compared. The results revealed no statistical significance between the two groups for grade levels, age, or subject matter areas. However, the grade equivalent mean score of the hearing-impaired group was poorer than that of the normal hearing control group in the 4th and 5th grade. Scores on sub-tests were also lower for the hearing-impaired students during these same grades. After 5th grade a pattern was not observed, with this small number of students. The study discusses the implications of these results indicating the hearing-impaired student is at academic risk through 5th grade.

The purpose of this research is to investigate the relationship between early intervention providers’ backgrounds, and their perceptions of caregiver coaching and auditory skill development, to develop professional development programs. An explanatory sequential design was used with participants of varying backgrounds and experience. In the first phase of the study, participants responded to a survey regarding their educational background, and their comfort with caregiver coaching and auditory skill development. Survey results were analyzed using Spearman’s Ranked Correlational Coefficient (Spearman’s rs) to form groups of participants from extreme cases. The second phase of the study consisted of participant interviews from each of the groups. Interviews were coded to identify themes present within and between groups. The information from both phases were analyzed to generate how professional preparation and certifications influence service delivery. Results were subsequently analyzed to determine potential improvements in the EI system, professional development, and policy.

Orientador: Tânia Adas Saliba / Banca: Ronald Jefferson Martins / Banca: Cristhiane Martins Schmidt / Resumo: Na atualidade o ruído constitui um dos problemas ambientais mais relevantes. Na prática odontológica a exposição a ruídos deve ser controlada para evitar danos à saúde do profissional. Objetivou-se neste estudo investigar a presença de alterações auditivas e avaliar o conhecimento dos estudantes de odontologia sobre a Perda Auditiva Induzida pelo Ruído; verificar os níveis de ruídos gerados durante o uso das canetas de baixa e alta rotação, assim como em diferentes pontos da Clínicas de Ensino de Odontologia durante as aulas práticas nos tratamentos odontológicos. Trata-se de um estudo transversal, amostra composta por 81 estudantes do terceiro ano curso diurno e quarto ano curso noturno de odontologia. Foi aplicado um questionário semiestruturado e auto administrado com questões referentes a transtornos auditivos, exames audiométricos e conhecimento da Perda Auditiva Induzida pelo Ruído (PAIR).Com o propósito de verificar os níveis de ruído que atingem o operador e paciente durante a execução de tratamentos odontológicos, foram feitas medições usando como instrumento o decibelímetro Digital Profissional marca Hikari Hdb-882,a uma distância de 5 cm, 15cm e 50 cm do ouvido direito do operador com 5 segundos de duração. Foram medidos os ruídos gerados no ambiente da Clínica com todos os equipamentos em funcionamento colocando o aparelho em pontos pré-estabelecidos nos cantos e centro da clínica. Foi realizado a análise estatística, ao nível de significância de 5%. Os resultados... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: At present noise is one of the most important environmental problems. In dental practice exposure to noise should be controlled to avoid damage to the health of the professional. The objective of this study was to investigate the presence of auditory alterations and to evaluate the knowledge of dentistry students about Noise-induced Auditory Loss; to verify the noise levels generated during the use of the low and high rotation pens, as well as in different points of the Dentistry Teaching Clinics during the practical classes in the dental treatments. his is a cross-sectional study, comprising 81 students from the third-year day course and fourth year night course of dentistry. A semi-structured and self-administered questionnaire was applied with questions related to auditory disorders, audiometric tests and knowledge of Noise-induced Auditory Loss (NIHL). In order to verify the noise levels reaching the operator and patient during the execution of dental treatments, measurements were made using the Hikari Hdb-882 Professional Digital decibel meter at a distance of 5 cm, 15 cm and 50 cm from the right ear of the operator with 5 seconds duration. Noises generated in the Clinic environment were measured with all the equipment in operation by placing the device in pre-set points in the corners and center of the clinic. Statistical analysis was performed at a significance level of 5%. The results showed the presence of auditory disorders in 14.8% of the students. Of the total, 28... (Complete abstract click electronic access below) / Mestre

INTRODUÇÃO: A perda auditiva relacionada à idade provoca diversas alterações, como dificuldade na percepção dos sons e na compreensão da fala, principalmente em ambientes desfavoráveis. O envelhecimento também pode ocasionar alteração no sistema nervoso central, acarretando redução na capacidade intelectual e/ou cognitiva e deterioração de outras funções sensoriais. Além disso, evidências científicas apontam uma associação entre a perda auditiva e a alteração da cognição, sendo de extrema importância que os profissionais estejam atentos a esta relação para que ocorra sucesso na reabilitação auditiva. OBJETIVO: Verificar a influência de habilidades cognitivas verbais no teste de percepção de fala no ruído em idosos com perda auditiva sensorioneural e relacionar a classificação socioeconômica, a escolaridade, o grau de perda auditiva e o nível intelectual-cognitivo na percepção de fala no ruído competitivo MÉTODO: Estudo do tipo observacional e transversal. Participaram 36 idosos com idade entre 60 e 89 anos com diagnóstico de perda auditiva sensorioneural bilateral, divididos em (GI) 24 idosos sem alteração cognitiva e (GII) 12 idosos com alteração cognitiva. Foram submetidos a avaliação otorrinolaringológica, a avaliação psicológica por meio do Wechsler Intelligence Scale for Adults (WAISIII), a entrevista audiológica inicial, a audiometria tonal liminar, a logoaudiometria, a imitanciometria, a avaliação da percepção de fala no ruído com o Hearing in Noise Test (HINT-Brasil) e a avaliação da integração binaural por meio do teste dicótico de dígitos. A análise estatística foi realizada por meio dos seguintes testes: Teste U de Mann-Whitney para comparação entre os grupos, Correlação de Spearman e Kruskal-Wallis para verificação da influência das variáveis idade, grau da perda auditiva, nível de escolaridade, configuração audiométrica e relação entre os resultados do HINT-Brasil e o WAIS-III. RESULTADOS: Houve diferença entre os grupos no desempenho do HINTBrasil apenas na condição ruído à esquerda, mostrando vantagem da orelha direita na percepção de fala no ruído. A idade, o grau da perda auditiva e o nível de escolaridade influenciaram na percepção de fala no ruído. Houve influência da idade, do nível de escolaridade e da classificação socioeconômica no WAIS-III. Não foi observada correlação entre o teste dicótico dígitos, o teste de percepção de fala no ruído e o desempenho da função cognitiva, ou entre o teste de percepção de fala no ruído e as habilidades cognitivas verbais. CONCLUSÃO: Não houve influência das habilidades cognitivas verbais na habilidade de percepção de fala no ruído nos idosos com perda auditiva sensorioneural de grau leve e moderado de acordo com análise estatística. A idade, o grau da perda auditiva e o nível de escolaridade influenciaram na percepção de fala no ruído, e nas habilidades cognitivas verbais houve interferência da idade, do nível de escolaridade e da classificação socioeconômica. / INTRODUCTION: Age-related hearing loss causes several changes such as difficulty in perceiving sounds and understanding speech, especially in unfavorable environments. Aging can also cause changes to the central nervous system, reducing intellectual and/or cognitive capacity and impairing other sensory functions. In addition, scientific evidence points to an association between hearing loss and altered cognition, and it is extremely important that professionals are attentive to that so they can offer successful auditory rehabilitation. OBJECTIVE: Verify the influence of verbal cognitive abilities on the speech-in-noise perception test in the elderly with sensorineural hearing loss and to relate socioeconomic classification, schooling, degree of hearing loss and intellectual-cognitive level in speech perception in competitive noise. METHODS: This is an observational and cross-sectional study. The participants are 36 elderly subjects aged 60-90 years old diagnosed with bilateral sensorineural hearing loss and were divided in (GI) 24 elderly subjects with no cognitive alterations and (GII) 12 elderly subjects with cognitive alteration. They were submitted to otorhinolaryngological evaluation, psychological evaluation through the Wechsler Intelligence Scale for Adults (WAISIII), initial audiological interview, pure tone audiometry, logoaudiometry, immitanciometry, evaluation of speech perception in noise with the Brazilian Hearing in Noise Test (HINT-Brazil), and evaluation of binaural integration through the dichotic digits test. The statistical analysis was carried out through the following tests: Mann-Whitney U test for comparing between groups, Spearman and Kruskal- Wallis correlation for checking the influence of the variables age, degree of hearing loss, educational level, audiometric configuration and relation between the results of HINT-Brazil and WAIS-III. RESULTS: There was a difference between groups in the speech perception test with the condition left noise, showing an advantage in the right ear regarding speech-in-noise perception. Age, degree of hearing loss, and level of schooling influenced the speech-in-noise perception. Age, level of schooling, and socio-economic classification influenced the WAIS-III. No correlation was found between the dichotic digits test, the speech-in-noise perception test, and the performance of cognitive function, or between the speech-innoise perception test and the verbal cognitive abilities. CONCLUSION: There was no influence of verbal cognitive abilities on the ability of speech perception in noise in the elderly with mild to moderate sensorineural hearing loss according to statistical analysis. Age, degree of hearing loss and level of schooling influenced the speechin- noise perception, and in verbal cognitive abilities there was interference of age, level of-schooling and socioeconomic classification.