Dissertations / Theses on the topic 'Presbycusi'

Eine der häufigsten Behinderungen des alternden Menschen stellt die Beeinträchtigung der Hörfunktion durch degenerative Veränderungen der Cochlea, beispielsweise am Ganglion spirale, am CORTI-Organs oder an der Stria vascularis dar. Basierend auf histologischen und funktionellen Untersuchungen, wird die Altersschwerhörigkeit (Presbycusis) beim Menschen durch SCHUKNECHT und GACEK (1993) in sechs verschiedenene Typen eingeteilt: sensorisch, strial/metabolisch, neural, cochlear-konduktiv, gemischt, unbestimmt. Die in diesem Rahmen auftretenden pathophysiologischen und pathomorphologischen Veränderungen der Cochlea sind bedingt durch hörschädigende Faktoren (u.a. Lärm, ototoxische Substanzen, Infektionen sowie genetische Ursachen), die im Laufe des Lebens im Bereich des peripheren Hörorgans und der zentral auditiven Verarbeitung gewirkt haben. Die meisten in der Literatur beschriebenen Untersuchungen, die sich mit cochleären Alterationen mit zunehmendem Alter befassen, wurden an Labortieren unternommen und beschreiben oft nur Alterationen einzelner Strukturen, nicht aber der gesamten Cochlea. Bei Hunden sind in der Literatur überwiegend ausführliche Untersuchungen bezüglich der kongenitalen vererbten Taubheit, z.B. bei Dalmatinern, beschrieben. Es existieren jedoch kaum Studien über altersbedingte morphologische und funktionelle Veränderungen der Cochlea bei Hunden. Das Ziel dieser Arbeit besteht daher in der (immun-) histologischen Untersuchung der Cochlea von 50 Hunden im Alter von 7 Tagen bis 16 Jahren, um altersbedingte morphologische und funktionelle Veränderungen in der Cochlea von Hunden, die nicht unter Laborbedingungen gehalten wurden, zu charakterisieren und sie mit den Befunden an Innenohren von anderen Tierarten und des Menschen zu vergleichen. Anhand der erhobenen Befunde sollen anschließend eventuelle Rückschlüsse auf intra vitam vorhandene Hörstörungen gezogen werden.

Thesis (B.Sc)--University of Hong Kong, 2002.
"A dissertation submitted in partial fulfilment of the requirements for the Bachelor of Science (Speech and Hearing Sciences), The University of Hong Kong, May 10, 2002." Also available in print.

Hearing loss and cognitive impairment are significant health problems, threatening the independent function of older adults. While there appears to be a strong relationship between the two conditions, the mechanisms underlying this association are complex and are not fully elucidated. The purpose of this secondary analysis was to explore the relationship between hearing ability and cognitive performance in older adults. In addition, this study attempted to examine the role of depressive symptoms in the relationship between hearing loss and cognitive performance. Comprehensive measures of peripheral hearing, central auditory processing and cognitive performance were utilized to examine these relationships in a sample (N = 30) of adults aged 60 years and older. The Geriatric Depression Scale (GDS) was used to assess depressive symptoms. Correlational analyses revealed a statistically significant relationship between central auditory processing and executive function. Statistically significant relationships were also observed between speed of processing and peripheral hearing as well as central auditory processing. No significant relationships were noted between depressive symptoms, hearing acuity and cognitive performance. While the correlation coefficients (r) for several of the hearing and cognitive performance measures were not statistically significant, medium effect sizes were detected, suggesting a moderate association may exist between these variables.

Professional research project (Au.D.)--University of South Florida, 2002.
Title from PDF of title page.
Document formatted into pages; contains 34 pages.
Includes bibliographical references.
Text (Electronic thesis) in PDF format.
ABSTRACT: The self-perceived hearing aid benefit of 38 participants was examined. Of the 38 subjects, 8 were found to have an auditory processing disorder as measured by the Dichotic Sentence Identification (DSI). When compared to the non-APD subjects, there were essentially no significant differences on the APHAB or COSI outcome measures. However, two of the 5 scales of the CHPI did show significant differences. In conclusion, these results do not support the notion of APD having a negative effect on hearing aid benefit. No finding in this study was robust and although there were several trends supporting that APD may impede an individual from receiving their full potential of benefit, this finding is not necessarily so.
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The auditory temporal processing deficits associated with age-dependent hearing decline have been increasingly attributed to issues beyond peripheral hearing loss. Age-related hearing loss (ARHL), also known as presbycusis, is linked with changes in the expression of both excitatory and inhibitory neurotransmitters in the central auditory system. There are also age-related changes in the expression and function of the ion channels which mediate action potential firing. The slow, Ca2+ activated, K+ channels of the BK-type are essential in controlling both neurotransmitter release and neural communication via alteration of action potential durations, firing frequency, and neural adaptation. There are many subsets of this type of ion channel located throughout the body, and though it is evident that these channels are involved in cellular activation within the peripheral auditory system, little is known about their contribution to auditory processing in the brain. There is a need for further understanding of the functional involvement and mechanisms of neurotransmitter loss and how this relates to the BK channel and auditory disorders such as presbycusis and tinnitus (the perception of a phantom sound). My research focused on investigating how the downregulation of neurotransmitter production and the reductions in BK channel expression affect ARHL. I also evaluated a custom BK-channel modulating peptide as a path towards a possible therapeutic intervention for age-related hearing loss. This custom peptide is especially useful because it reduces the potential for serious side effects, due to mechanisms which best mimic natural occurring peptide systems. The initial investigation described in this dissertation measured auditory system changes in aged mice that occurred following a drug-induced increase in the availability of the inhibitory neurotransmitter GABA. This increase in GABA decreased minimum response thresholds in the auditory midbrain of aged mice, bringing them to levels seen in young adult animals. The other changes that occurred following increased GABA availability were increased acoustically driven neuronal firing rates, frequency-dependent decreases in spontaneous rates, and increases in the symmetry of the receptive fields. The return of clear and fine-tuned acoustically-evoked responses in aged mice was a major finding of this experiment. The second phase of the dissertation built on this demonstration that modulation of the aged auditory system was possible by changing neurotransmitter levels. This second portion of the study focused on how a novel potent neuropeptide (LS3), which increases the probability of the BK channel remaining in the closed conformational state, might invoke alterations in auditory-evoked responses. First, the LS3 neuropeptide was used to modify addictive behavior in the C. Elegans; followed by evaluation of in vitro changes to a human cell line. This study then confirmed that LS3 is a potent BK channel modulator with a greater affinity than those known toxins classified as high-affinity toxins. In vivo testing demonstrated that LS3 could rapidly cross the blood-brain barrier (BBB) following systemic injections, where it altered auditory evoked activity in a manner similar to that of the direct application to the dura over the midbrain. This work demonstrates that the BK channel is highly responsible for the control of auditory-evoked neurological processes, and that a potent BK channel modulator may be useful for the treatment of certain neurological disorders. The third study was designed to confirm that the BK channel plays an important role in sound-evoked activity generated in the auditory midbrain, by testing the effects of a general BK channel pore blocker, PAX. The results established that the BK channel is vital for sound processing in the midbrain of young adult mice, and is responsible for the maintenance of receptive field properties. I also evaluated the role it plays in temporal processing, which is an underlying mechanism for the processing of neurologically-relevant complex acoustic signals such as speech. Here, blocking of the channel increased (worsened) the threshold for the detection of a silent gap-in-noise and the neural recovery functions that occurred following the stimuli. The fourth study significantly expanded the in vivo testing of the custom peptide channel blocker, LS3, and added a behavioral measure of changes to auditory perception in addition to the electrophysiology recordings. The auditory-evoked receptive fields from midbrain neurons were modulated in a dose-dependent manner following the application of LS3. The neural recordings took place in the inferior colliculus, where the dorsal region responds to low-frequency sounds and ventral areas to high frequencies. The LS3-induced suppression or enhancement of evoked responses was different for the various tonotopic regions of the auditory midbrain. The improvements shown in receptive fields and improvement in auditory perception indicates a plausible route for direct translational treatment of auditory disorders through small custom peptide therapeutics. These studies provide supportive information about how auditory evoked responses in the midbrain, including the coding of different sound features, are affected by the down-regulation of a key inhibitory neurotransmitter (GABA), and how GABA-dependent neural evoked responses are altered in older mice through the modulation of BK channel activity.

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.

Word recognition is based on the complex interplay of bottom up processing of acoustic input and corresponding top-down processing based on linguistic redundancies (i.e., contextual cues). Friedrich and Kotz (2007) investigated the timeline of integrating top-down and bottom-up processes among young adults with normal hearing using sentences presented in quiet. As a follow-up study, also with young adults with normal hearing (Experiment 1 of this dissertation), we used sentences embedded in multi-talker background noise and found similar results to Friedrich and Kotz (2007); but, with the use of principal component analysis (PCA) unveiled additional effects of phonological and semantic integration of spoken sentences presented in background noise. These past studies provide evidence of the time course of bottom-up and top-down mechanisms among young adult listeners in quiet and in noise; however, it is unknown if a similar pattern would be present among older adult listeners, which was the primary goal of the dissertation. In Experiment 2, we aimed to elucidate the time-course, and behavioral and neural correlates of word recognition primed by speech-in-noise in older adults with near normal hearing (i.e., thresholds ≤ 25 dB-HL through 3000 Hz and minimal high frequency hearing loss). Older adults often report difficulty understanding speech in the presence of background noise. Degradation in peripheral and central auditory processing along with age-related cognitive decline has been hypothesized as reasons why older adults struggle in the presence of noise.

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Hearing is one of the human senses that contribute the most for social interaction. The hearing loss in the elderly, known as presbycusis, involves the decrease in speech intelligibility, restraining communication and the social life of the elder. Communicative limitations may lead to isolation, harming their social relations, and interfering in their quality of life. Purpose: Characterize the perception that old adults have of their own hearing, plus the identification of aspects involved in their process of communication. Method: This study was done through the use of a descriptive and exploratory research, having 40 students, being 34 females and 6 males, with ages varying between 61 and 88 years old, from an university called: Universidade Aberta à Terceira Idade (UATI), located in the city of Salvador, in the state university, named Universidade do Estado da Bahia (UNEB). Foi aplicado um questionário denominado Inventário Auditivo para Idosos (IAPI) e realizado o exame audiométrico nos sujeitos. A análise dos dados foi feita a partir das variáveis: sexo, faixa etária e pela computação das respostas dadas pelos indivíduos ao Inventário Auditivo para Idosos - IAPI (Mesquita, 2001).The subjects answered to a questionnaire and undergo audiometric tests. The data analysis was done considering the variables: gender, age and the computed answers for the questionnaire (Mesquita, 2001). Results: 37.5% of the subjects presented normal hearing and 62.5% hearing loss, being 30% symmetrical and 32.5% asymmetrical. Out of 25 subjects with hearing loss, only 04 (16%) were aware of it with a score for the questionnaire over 10 and 21 (84%) under 10. Related to gender, 8% of men and women scored over 10; 16% of men and 68% of women had scores over 10. There was a descending audiometric configuration in 88% of the subjects. Conclusion: In relation to age and degree of hearing loss, the greater the age, the greater the hearing loss, being proportionally higher for males than for females. It is fundamental to be in harmony with this population in order to contribute with our portion of knowledge and help the ones who are in our tomorrow´s place
A audição é um dos sentidos humanos que mais contribui para a interação social. A perda auditiva na terceira idade, conhecida como presbiacusia, implica redução da inteligibilidade de fala, comprometendo a comunicação e a vida social do idoso. As limitações da comunicação podem levar o idoso a se isolar, prejudicando suas relações sociais, interferindo, assim, em sua qualidade de vida. Objetivo: caracterizar a percepção que os indivíduos idosos têm da sua audição, além da identificar os aspectos envolvidos no seu processo comunicativo. Método: Foi realizada uma pesquisa descritiva e exploratória, tendo como sujeitos 40 alunos, sendo 34 do sexo feminino e 06 do sexo masculino, com idades variando entre 61 anos e 88 anos, de uma Universidade Aberta à Terceira Idade (UATI), localizada na cidade do Salvador, na Universidade do Estado da Bahia (UNEB). Foi aplicado um questionário denominado Inventário Auditivo para Idosos (IAPI) e realizado o exame audiométrico nos sujeitos. A análise dos dados foi feita a partir das variáveis: sexo, faixa etária e pela computação das respostas dadas pelos indivíduos ao Inventário Auditivo para Idosos - IAPI (Mesquita, 2001). Resultados: 37,5% dos sujeitos apresentaram audição normal e 62,5% perda auditiva, sendo 30% perda auditiva assimétrica e 32,5% simétrica. Dos 25 sujeitos com perda auditiva apenas 04 (16%) tiveram percepção da mesma com um IAPI superior a dez pontos e 21 (84%) com uma pontuação inferior a dez. Quanto ao sexo, 8% de homens e mulheres tiveram uma pontuação superior a dez no IAPI; 16% dos indivíduos do sexo masculino e 68% do feminino apresentaram pontuação inferior a dez. Houve um predomínio da configuração audiométrica do tipo descendente em 88% dos sujeitos Conclusão: Com relação à faixa etária e ao grau da perda auditiva, quanto maior a idade maior a perda auditiva, sendo, proporcionalmente maior para o sexo masculino do que para o feminino. É necessário que estejamos em sintonia com essa população a fim de contribuir com nossa parcela de conhecimento e ajuda aos que estão hoje em nosso lugar amanhã

The ability to resolve rapid intensity and frequency fluctuations in sound is important for understanding speech, especially in real-world environments that include background noise and reverberation. Older listeners often complain of difficulties understanding speech in such real-world environments. One factor thought to influence speech understanding in noisy and reverberant environments is temporal resolution, the ability to follow rapid acoustic changes over time. Temporal resolution is thought to help listeners resolve rapid acoustic changes in speech as well as use small glimpses of speech available in the dips or gaps in the background sounds. Temporal resolution is an ability that is known to deteriorate with age and hearing loss, negatively affecting the ability to understand speech in noisy real-world environments. Measures of temporal resolution, including temporal masking, gap detection, and speech in interrupted noise, use a silent gap as the cue of interest. Temporal masking and speech in interrupted noise tasks measure how well a listener resolves a stimulus before, after, or between sounds (i.e., within a silent gap), while gap detection tasks measure how well the listener resolves the timing of a silent gap itself. A listener needs to resolve information within the gap and the timing of the gap when listening to speech in background sounds. This study examined the role of aging and hearing loss on three measures of temporal resolution: temporal masking, gap detection, and speech understanding in interrupted noise. For all three measures, participants were young listeners with normal hearing (n = 8, mean age = 25.4 years) and older listeners with hearing loss (n = 9, mean age = 72.1 years). Results showed significant differences between listener groups for all three temporal measures. Specifically, older listeners with hearing loss had higher temporal masked thresholds, larger gap detection thresholds, and required a higher signal-to-noise ratio for speech understanding in interrupted noise. Relations between temporal tasks were observed. Temporal masked thresholds and gap detection thresholds accounted for a significant amount of the variance in speech-in-noise scores. Findings suggest that deficits in temporal resolution abilities may contribute to the speech-in-noise difficulties reported by older listeners.

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A perda auditiva (PA), terceira condição crônica mais prevalente em idosos, traz prejuízos funcionais, além de gastos com a saúde pública. Poucos são os estudos no Brasil que se preocupam em verificar a prevalência desta afecção e seus fatores associados, dentre estes a falta de discussões relacionadas ao nível de escolaridade como fator predisponente para a PA do idoso. O objetivo deste estudo foi determinar a prevalência de PA autorrelatada em indivíduos com 65 anos ou mais, moradores da comunidade, e participantes do estudo sobre fragilidade em idosos brasileiros – FIBRA – JF e investigar os possíveis fatores associados. Este estudo, de delineamento transversal, é derivado do Estudo Multicêntrico sobre Fragilidade em Idosos Brasileiros, denominada Rede FIBRA. A amostra foi composta por 427 idosos de Juiz de Fora. Foram considerados sujeitos com PA autorrelatada os idosos que preencheram os seguintes critérios: (1) declararam não ouvir bem para a questão “O (a) senhor (a) ouve bem?”; (2) respondeu sim para a questão “O (a) senhor (a) usa aparelho auditivo?”. Estudou-se a associação da PA autorrelatada com variáveis sóciodemográficas, clínicas, comportamentais e funcionais. A análise dos dados foi feita pelo programa SPHINX LEXICA & EURECA V. 5, utilizando-se o método de teste do Quiquadrado (χ²). Foi encontrada uma prevalência de 24,4% de PA autorrelatada. Observou-se forte associação desse distúrbio com a variável idade (p<0,05). A média de idade encontrada para os que relataram não ouvir bem 77,09 anos. As demais variáveis predisponentes analisadas não representaram fatores significantes. Foram verificadas associações significativamente estatísticas somente para alguns itens das escalas funcionais, a saber: dirigir automóveis, uso do telefone, preparo de alimentos, uso de medicação, cuidado com a saúde, nível de atividade, sentir-se cheio de energia e satisfação com a memória. Conclui-se que a prevalência de PA autorrelatada encontrada nesta população apresentou divergências com outras pesquisas. A variável idade foi a principal associação estabelecida. As associações com as variáveis funcionais sugerem que a PA pode ser primordialmente um fator causador de prejuízos funcionais, porém, necessita-se de estudos mais específicos visando estabelecer melhor esta correlação.
Hearing Loss (HL), the third most prevalent chronic condition in the elderly, brings functional impairment, as well as spending on public health. There are few studies in Brazil which verify the prevalence of this disease and its associated factors, such as the lack of discussions related to level of education as a predisposing factor for HL in the elderly. The aim of this study was to determine the prevalence of HL reported in individuals aged 65 years or over, community residents, and participants of a study about frailty in elderly Brazilians - FIBER - JF and investigate possible associated factors. This cross-sectional study is derived from the Multicenter Study on Fragility of the Brazilian Elderly, called "Rede FIBRA". The sample consisted of 427 elderly citizens from Juiz de Fora. Senior citizens with HL who met the following criteria were included as subjects: (1) those who reported not hearing well the question "Do you hear well?", (2) those who answered yes to the question "Do you wear any hearing aid?". From there, we studied the association of HL with socio-demographic, clinical, behavioral and functional variables. Data analysis was made using SPHINX LEXICA & EURECA V. 5, setting the frequency of each variable in the sample surveyed, using the Chisquare test (χ²) method. A prevalence of 24.4% of PA was found. There was a strong association of this disorder with variable age (p<0.05). The average age for those who reported they could not hear well was 77.09 years. The other predisposing variables analyzed did not represent significant factors. HL were associated to only some items of the functional scales, namely driving a car, using the phone, food preparation, use of medication, health care, activity level, feeling full of energy and satisfaction with memory. It can be concluded that the prevalence of HL in this population there were differences with other research findings. The age variable was the main association established. The associations with functional variables suggest that HL may be primarily a factor which causes functional impairment, however, it requires more specific studies to better establish this correlation.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior
Theme: The majority of the elderly people with presbycusis can benefit from group hearing rehabilitation. The literature on this subject evaluated those programs as effective. Therefore, the literature does not point the origin of this effectiveness. Based on the information collected from these literature, a private hospital located in São Paulo created the Hearing Aid User Support Group GAUAA, which consists of four monthly meetings. Purpose: To find out the effectivness of a group hearing rehabilitation program for the elderly through shifting from quantitative data to qualitative data. Method: Thirty subjects, hearing aid users with monoaural adaptation, showing moderate to severe hearing loss with ages between seventy and ninety-two years old have participated in this research. This study provided two situations: on situation I, the International Outcome Inventory for Hearing Aids questionnaire (IOI-HÁ) was applied before and after the program. The objetive was to evaluate the user degree of satisfaction. The collected data were submeted to the Wilcoxon test method analysis and analysed through the Spearman correlation method. The situation II was divided in two phases: on phase I, the subjects statements were collected and analysed after the program. At phase II, the subjects statements were analysed during the GAUAA meetings. These data were analysed by the french line of the speech analysis proposed by Orlandi(1996). Results: The data found at situation I were statistically significant, but they could not indicate what would be the reason for the positive effectiveness responses from the clinical perpective. Thus, the situation II through the qualitative analysis, made possible to observe the subjects singularities, which suggested that the effectiveness of a hearing rehabilitation program is due to the identification among the participants and by transference, sustained by the coordinator´s position. The GAUAA effectiveness derives from the ludical speech dominance, which its effects promote the effectiveness of the hearing aid use
Tema: possíveis benefícios de um grupo de apoio voltado a idosos com presbiacusia e usuários de auxiliar auditivo. Objetivo: por meio da articulação entre dados quantitativos e dados qualitativos, localizar a origem da eficácia de um programa de reabilitação auditiva em grupo de idosos. No geral, embora a literatura sobre o tema aborde esse aspecto, não há ainda estudos que propõem parâmetros de atuação e estratégias que levem ao uso sistemático do auxiliar auditivo por parte dessa população. Método: participaram deste estudo 30 sujeitos com perda auditiva de grau moderado a severo, na faixa etária de 70 a 92 anos, usuários de auxiliar auditivo com adaptação monoaural e participantes do Grupo de Apoio ao Usuário de Auxiliar Auditivo GAUAA, criado em um hospital privado de São Paulo, sendo o trabalho desenvolvido em quatro encontros mensais. Foram analisadas duas situações: a Situação I, em que foi aplicado o questionário QI-AASI (Questionário Internacional-Aparelho De Amplificação Sonora Individual), antes e depois do programa, para avaliar o grau de satisfação do usuário. Os achados foram submetidos ao método de análise dos Testes dos Postos Sinalizados de Wilcoxon. A situação II foi dividida em duas etapas: na 1ª etapa procedeu-se à coleta e análise de depoimentos dos usuários após o programa, e na 2ª etapa, à análise dos dizeres dos participantes durante as reuniões do GAUAA. Esses dados foram analisados à luz da metodologia de Análise de Discurso de linha francesa, articulada à tipologia do discurso proposta por Orlandi(1996). Resultados: Os achados da situação I mostraram-se estatisticamente significantes, mas, clinicamente, não indicaram o que provocava as respostas positivas sobre a participação no GAUAA. Já a situação II, em que foi utilizada a metodologia qualitativa, possibilitou observar a singularidade dos sujeitos, sugerindo que a eficácia de um programa de reabilitação auditiva se dá pela identificação entre os participantes e pela transferência sustentada pela posição do coordenador. Concluiu-se que a eficácia do GAUAA deriva da dominância do discurso lúdico, cujos efeitos promovem a efetividade do uso do auxiliar auditivo

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processing, associated with the decline of working memory and attention. The comprehension of speech is a highly specialized activity and involves the perception and cognition. The objective of this study was to investigate whether the assessment of auditory skills and speech perception in the elderly, new users of Individual sound amplification device, assists in the process of selection and adaptation of AASI. Methods: we selected 15 individuals with sensorineural hearing loss from mild to moderate degree, new users of bilateral hearing aids, aged between 60 and 75 years. The subjects were assessed by means of Duration Pattern Sequence Test (DPST), Dichotic Digits Test (DDT), Differential Limen of Intensity (DLI), Index of Sentence Recognition (ISR) in quiet and in noise, Sentence Recognition Threshold (SRT) in quiet and in noise and by self-evaluation questionnaire auditory handicap for senior citizens (HHIE-S) in two instances: without hearing aid (first evaluation), and after 3 months (2nd evaluation). Results: tests, DLI only in LE, SRT in noise , SRT in quiet and ISR in quiet showed that there were no statistically significant difference between the two evaluations. In the remaining tests there is difference statistically significant between the assessments. Conclusion: The proposed tests may be part of the process of adaptation of the HEARING AID, because they contribute to the extent of satisfaction and performance, allowing the audiologist forward to hearing/cognitive rehabilitation when necessary
Com a diminuição da audição periférica, ocorre uma piora no processamento da informação, associada ao declínio da memória de trabalho e atenção. A compreensão da fala é uma atividade altamente especializada e envolve basicamente a percepção e a cognição. O objetivo deste estudo foi investigar se a avaliação das habilidades auditivas e de percepção de fala em idosos, novos usuários de Aparelho de Amplificação Sonora Individual (AASI), auxilia no processo de seleção e de adaptação do AASI. Métodos: Foram selecionados 15 indivíduos portadores de perda auditiva neurossensorial de grau leve a moderado, novos usuários de próteses auditivas bilaterais, com idades entre 60 e 75 anos. Os sujeitos foram avaliados por meio dos testes de Duration Pattern Sequence (DPS), Teste Dicótico de Dígitos (TDD), Limiar Diferencial de Intensidade (LDI), Pesquisa do Índice de reconhecimento de sentenças (IRS) no silêncio e no ruído, Pesquisa do Limiar de reconhecimento para sentenças (LRS) no silencio e no ruído e pelo questionário de auto avaliação do handicap auditivo para idosos (HHIE-S) em dois momentos: sem próteses (1ª avaliação), e após 3 meses (2ª avaliação). Resultados: Somente nos testes de LDI na OE, LRS no silêncio e no ruído, e IRS no silêncio não mostraram diferenças estatisticamente significantes entre as duas avaliações. Nos demais testes houve diferença estatisticamente significante entre as avaliações. Conclusão: Os testes propostos poderão fazer parte do processo de adaptação do AASI, pois contribuem na medida de satisfação e desempenho, permitindo ao fonoaudiólogo encaminhar para a reabilitação auditiva/cognitiva, quando for necessário

La presbyacousie, surdité neurosensorielle liée à l’âge, est un problème de santé publique majeur dont environ la moitié de la variance phénotypique est d’origine génétique. L’objectif de cette thèse est d’identifier des gènes de presbyacousie par séquençage exomique total. Cette analyse a été effectuée sur 105 familles, 122 cas sporadiques et 120 témoins. L’héritabilité de la presbyacousie était compatible avec une transmission autosomique dominante dans 95% des familles. Des variants très rares, de fréquence allélique mineure (MAF) ≤0,01%, et prédits pathogènes ont été recherchés puis, pour certains, validés. Ce travail dévoile l’importance de l’implication des gènes responsables de surdité précoce dominante chez 23,8% des familles et 27,8% des cas sporadiques contre 9,2% des témoins (p=0,001) dans la presbyacousie avec une majorité de nouveaux variants. L’étude d’un modèle murin Tmc1N321I/N321I a permis d’établir la pathogénie de la mutation p.(Asn327Ile), observée dans une famille atteinte de presbyacousie. La survenue d’une surdité à partir de 7 mois chez les souris Tmc1N321I/+ a validé l’existence d’une forme monogénique de presbyacousie. Un nouveau gène de surdité précoce ou cachée, AP3M2, a été découvert par l’étude des modèles murins Ap3m2ins1/ins1 et Ap3m2L157P/L157P respectivement. Enfin, la Sirtuine 6 semble impliquée dans le maintien de la fonction auditive avec l’âge. Ces travaux révèlent l’existence 1) d’un continuum génétique entre les formes de surdité précoce et la presbyacousie, 2) de formes monogéniques de presbyacousie et 3) de perspectives de thérapies curatives de la presbyacousie telles que la thérapie génique
Presbycusis is a major public health issue worldwide with half of its variance due to genetic predisposition. The aim of this thesis was to identify presbycusis genes by whole exome sequencing (WES). We analysed 105 families, 122 simplex cases and 120 normal hearing controls. After an in silico bioinformatic analysis to select predicted pathogenic variants, and according to the autosomal dominant mode of inheritance in 95% of the families, we looked for very rare heterozygous variants (Minor allele frequency : MAF≤0.0001). We found a significative higher ratio of pathogenic variants in autosomal dominant deafness genes carried by 23,8% of mARHL and 27.8% of sARHL than controls (9,2%) (p=0,001). By studing a mouse model Tmc1N321I, we confirmed the pathogenicity of the mutation leading to congenital moderate hearing loss in homozygous mice due to reduced mechanotransduction current amplitude. The heterozygous mice present a progressive hearing loss beginning at 7 months and affecting first the high frequencies, validating also the mutation as responsible of a monogenic form of presbycusis. We discovered a new deafness gene, AP3M2, responsible of syndomic deafness if deleted and of hidden hearing loss if mutated (p.(Leu157Pro)). Lastly, we proposed Sirtuin 6 as implicated in hair cell function maintenance. WES unraveled that a large proportion of severe presbycusis is due to new mutations in autosomal dominant deafness genes arguing for a genetic continuum between early onset deafness and presbycusis. We demonstrated also the existence of monogenic forms of presbycusis that could be targeted by new personnalized therapies like gene therapy

The aim of the study was to examine central auditory processes compromised by age, age-related hearing loss, and the presentation of a distracting cafeteria noise using auditory event-related potentials (ERPs). In addition, the relation of ERPs to behavioral measures of discrimination was investigated. Three groups of subjects participated: young normal hearing, elderly subjects with normal hearing for their age, and elderly hearing-impaired subjects. Psychoacoustic frequency discrimination thresholds for a 1000-Hz pure tone were determined in quiet and in the presence of a contralateral cafeteria noise. To elicit ERPs, small frequency contrasts were presented with and without noise under unattended and attended conditions. In the attended condition, behavioral measures of d′ detectability and reaction times were also obtained. Noise affected all measures of behavioral frequency discrimination significantly. Except N1, all ERP components in the standard and difference waveforms decreased significantly in amplitude and increased in latency to the same degree in all three subject groups, arguing against a specific age-related sensitivity to the effects of contralateral background noise. For N1 amplitude, the effect of noise was different in the three subject groups, with a complex interaction of age, hearing loss, and attention. Behavioral frequency discrimination was not affected by age but deteriorated significantly in the elderly subjects with hearing loss. In the electrophysiological test, age-related changes occurred at various levels. The most prominent finding in the response to the standard stimuli was a sustained negativity (N2) following P2 in the young subjects that was absent in the elderly, possibly indicating a deficit in the inhibition of irrelevant information processing. In the attended difference waveform, significantly larger N2b and smaller P3b amplitudes and longer N2b and P3b latencies were observed in the elderly indicating different processing strategies. The pronounced age-related changes in the later cognitive components suggest that the discrimination of difficult contrasts, although behaviorally maintained, becomes more effortful in the elderly.

La presbyacousie est une maladie qui concernerait plus de 12 millions de Français mais qui reste peu connue. Si elle n'est pas traitée tôt, elle peut entraîner de graves complications comme des troubles de la communication, de la dépression et des troubles cognitifs. Le constat actuel est que très peu de presbyacousiques sont traités, et lorsqu'ils le sont, le résultat semble insuffisant. L'objet de cette thèse est de proposer à partir des connaissances actuelles, des solutions adaptées aux besoins de ces patients, du dépistage à la réadaptation. Trois études ont été menées : l'étude « AcoumAudio », déclinée en trois volets a montré que l'acoumétrie vocale était un bon test de dépistage de la surdité chez les personnes âgées, d'évaluation du degré de perte auditive et de mesure du gain auditif fonctionnel après réhabilitation ; l'étude 1 intitulée « Privation sensorielle auditive et fonctionnement cognitif chez le sujet âgé (ACADem) » a montré que le port d'un appareillage auditif pouvait préserver d'une dégradation cognitive ; et l'étude 2 intitulée « Faisabilité d'une Réhabilitation Conjointe Audioprothétique et Orthophonique pour les Presbyacousiques (FRéCAOP) » a montré qu'il était possible de proposer une prise en charge plus complète et efficiente de la presbyacousie, dans un circuit de l'audition du GRAPsanté, incluant nécessairement un Aidant
Presbycusis is a disease that occurs in more than 12 million French people, but which is still not well known. If it is not treated early, it can lead to serious complications such as communication disorders, depression and cognitive impairment. The current situation is that very few presbycusic patients are treated, and when they are, the result seems insufficient. The purpose of this thesis is to propose using current data, solutions tailored to the needs of these patients, from screening to rehabilitation. Three studies were conducted: the "AcoumAudio" Study, available in three components showed that the vocal acoumetry was a good hearing test to screen elderly people, to evaluate the degree of hearing disorders and to measure functional auditory gain after rehabilitation; Study 1 entitled "Auditory deprivation and cognitive functioning in the elderly" showed that wearing hearing aids could preserve from cognitive deterioration; and Study 2 entitled "Feasibility of a Conjoint Rehabilitation involving audiology and speech therapy for presbycusis (FRéCAOP)" showed that it was possible to offer a more complete and efficient management of presbycusis, in the hearing circuit of GRAPsanté, necessarily including a caregiver

A ce jour, six millions de français sont atteints de troubles de l'audition. Face à ce problème de santé publique, des outils performants d'exploration de la fonction auditive sont indispensables. La Speech ABR (Speech Auditory Brainstem Response ou Réponse du tronc cérébral auditif à la parole) est un outil prometteur, comme marqueur électrophysiologique fin de l'encodage neuronal de la parole. Cependant, sa méthodologie reste peu développée, son origine neuronale incertaine et elle n'a jamais été enregistrée chez le malentendant porteur d'aides auditives. Le premier axe de cette thèse porte sur les générateurs neuronaux de la Speech ABR. Le développement d'une méthodologie de recueil topographique de cette réponse jusqu'alors décrite comme strictement sous-corticale, a d'abord suggéré la possibilité d'un générateur cortical. Une étude en stéréo-électroencéphalographie a ensuite confirmé l'existence d'une activité Speech ABR dans les cortex auditifs primaires bilatéraux. Ce résultat apporte un éclairage nouveau sur la représentation des sons de parole par système nerveux auditif. Le second axe concerne l'étude de la Speech ABR chez le malentendant appareillé. Après avoir développé une méthodologie de stimulation acoustique directement au travers des aides auditives, nous avons étudié la plasticité neuronale induite par le port d'aides auditives. Les résultats montrent une amélioration de l'identification des phonèmes amplifiés, liée à une représentation corticale modifiée et à un encodage fréquentiel rééquilibré. Ces toutes premières preuves de plasticité neuronales dès les 4 premiers mois d'utilisation des aides auditives ouvrent de nouveaux espoirs thérapeutiques
To date, six million French are hearing impaired. To address this public health issue, efficient tools for exploration of the hearing function are essentials. Speech ABR (Speech Auditory Brainstem Response) is a promising tool, being a fine electrophysiological marker of the neuronal encoding of speech. Though, its methodology remains underdeveloped, its neural origin is still uncertain, and it has never been recorded in hearing aid users. The first axis of this thesis focuses on the neural generators of Speech ABR. The development of a methodology for recording topographies of this response, up to now described as strictly subcortical, first suggested the possibility of a cortical generator. A stereo-electroencephalography study then confirmed the existence of Speech ABR activity in bilateral primary auditory cortices. This result sheds a new light on the representation of speech sounds within the auditory nervous system. The second axis concerns the study of Speech ABR in hearing aid users. After having developed a methodology of acoustic stimulation directly through hearing aids, we investigated neural plasticity induced by hearing aid use. Results show an improvement in the identification of amplified phonemes, linked to an altered cortical representation and a rebalanced frequency encoding. This very first evidence of neural plasticity as soon as the first four months of hearing aid use opens up new therapeutic hopes

Tese de mestrado, Biologia Molecular e Genética, Universidade de Lisboa, Faculdade de Ciências, 2017
Introdução: O ouvido é um órgão sensorial que tem como função a transmissão e a tradução de sons para o cérebro assegurando assim a audição essencial a uma comunicação oral eficaz. A surdez é considerada a deficiência sensorial mais comum na população humana, comprometendo a integração social do indivíduo afetado e envolve a perda total ou parcial da capacidade de um indivíduo detetar sons. Aproximadamente 1/1000 recém-nascidos apresentam surdez, bem como cerca de 1/3 dos indivíduos com idade superior a 65 anos. A surdez está descrita como sendo a terceira doença sensorial crónica do mundo, prevendo-se um aumento de 25% dos casos até ao ano de 2020. A surdez associada à idade ou presbiacusia é uma doença multifatorial, representando a sequela final de diversos fatores intrínsecos e extrínsecos, que atuam no ouvido interno ao longo da vida. Esta forma de surdez caracteriza-se por uma perda auditiva progressiva, que começa nas altas frequências e está descrita como afetando mais homens do que mulheres. Esta forma de perda auditiva é também referida como surdez social por estar na origem do isolamento social e mesmo depressão, observados em alguns idosos onde a perda auditiva é maior. As causas de surdez podem ser genéticas ou ambientais como a associada a situações de anoxia, a doenças infeciosas ou infeções crónicas no ouvido, ao uso de medicamentos ototóxicos, exposição ao ruído e envelhecimento, como já referido. O locus DFNB1 foi o primeiro a ser identificado na surdez autossómica recessiva, contendo dois genes vizinhos no cromossoma 13, GJB2 e GJB6, que pertencem por isso ao mesmo cluster e que codificam individualmente duas proteínas transmembranares, a conexina 26 e a conexina 30, respetivamente. As conexinas são as subunidades dos conexões, estruturas que constituem as “gap-junctions” que funcionam como canais intercelulares. Ambas as conexinas, 26 e 30, são expressas na cóclea, entre as células ciliadas, pelo que possuem um papel fundamental no processo auditivo. Atualmente encontram-se descritas mais de 100 mutações e polimorfismos no gene GJB2. O espectro destas mutações varia entre populações, existindo mutações típicas das populações caucasianas, das asiáticas, etc, pelo que a identificação de mutações neste gene são muito relevantes em cada população. Duas grandes deleções no gene GJB6 são também responsáveis por casos de surdez. Dada a relevância dos genes GJB2 e GJB6 na etiologia da surdez em várias populações, o diagnóstico molecular de casos de surdez neurosensorial começa pelo seu estudo. Assim, faz sentido que na presbiacusia se estudem também estes genes procurando conhecer o seu efeito na causa deste tipo de surdez. Existem ainda mutações no gene GJB2 cuja patogenicidade é controversa, pelo que a realização de estudos funcionais que ajudem a clarificar o efeito destas mutações, identificadas de novo ou já conhecidas, é uma forma de prever a sua patogenicidade dessas mutações e assim estudar a sua associação com a surdez. A investigação com base em estudos genéticos e moleculares tem permitido grandes avanços na área da surdez, sugerindo que esta condição pode ser evitável e também pode ser tratada mais precocemente. Objetivo: O presente estudo teve como objetivo geral aumentar o conhecimento da surdez associada à idade em idosos da população portuguesa. Como objetivos específicos podem definir-se: 1) o papel dos genes GJB2/GJB6 na surdez associada à idade; 2) o estudo de novas mutações identificadas de novo na população Portuguesa com vista a clarificar a sua patogenicidade. Materiais e métodos: Foram analisadas 200 amostras de DNA, obtidas a partir de sangue colhido em idosos da população portuguesa, provenientes de diferentes regiões de Portugal. Todos os indivíduos assinaram um consentimento informado, responderam a um inquérito sobre o seu estado geral de saúde e antecedentes familiares, realizaram um audiograma com vista a identificar a presença de presbiacusia e aceitaram voluntariamente participar neste estudo pelo que também forneceram uma amostra de sangue colhida em cartão FTA. A pesquisa de mutações no gene GJB2 realizou-se em 80 amostras de DNA e em 120 amostras de DNA para o gene GJB6. Para isso foi amplificado por PCR e sequenciado em ambas as direções a região codificante (exão 2) do gene GJB2. As grandes deleções descritas no gene GJB6, foram estudadas por PCR multiplex, onde os primers usados permitem distinguir pelo padrão de amplificação a presença e a ausência das deleções. Foram estudadas três mutações p.Leu213X, p.Gly160Ser, p.Gly160Cys previamente identificadas de novo na população Portuguesa. Assim, realizaram-se culturas “in vitro” de células HeLa para efetuar estudos de expressão e de imunolocalização. Usaram-se também programas de modelação tridimensional de proteínas (CHIMERA, PYMOL e PDB) para tentar esboçar a conformação da proteína mutada comparativamente com a conexina selvagem (wild type) ou não mutada. Esta última abordagem foi também aplicada no estudo da mutação p.Ala40Gly identificada na amostra em estudo. Resultados e Discussão: Os 200 indivíduos considerados no presente estudo incluem 68.5% de mulheres (n=137) e 31.5% de homens (n=63), com idades compreendidas entre os 50 e os 90 anos de idade no geral. O estudo dos audiogramas mostrou que 4.5% (n=9) dos indivíduos apresenta uma audição normal (até 20dB de perda auditiva no melhor ouvido) e 16.5% (n=32) não possuem informação, pelo que os restantes 79% (n=159) apresentam presbiacusia. Destes, 1% dos indivíduos (n=2) apresentam surdez profunda (acima dos >81dB) sendo um homem com 70 anos de idade e uma mulher de 90 anos de idade. A pesquisa de mutações no gene GJB2 encontrou 5% dos indivíduos (n=4/80) com mutações em heterozigotia. Assim, nenhum deles apresentava surdez associada a GJB2 e todos estes indivíduos foram ouvintes durante toda a sua vida enquanto jovens e adultos. Observaram-se as mutações p.Arg143Gln (n=1) p.Met93Ile (n=1) e p.Ala40Gly (n=2) identificadas pela primeira vez na população Portuguesa. No gene GJB6 não foi observada nenhuma das grandes deleções já descritas. Os estudos realizados “in vitro”, em células HeLa que passaram a expressar a proteína conexina 26 (Cx26) selvagem (wt) e mutada com p.Leu213X, p.Gly160Ser ou com p.Gly160Cys, permitiam pela técnica Western Blot, verificar a expressão apenas da conexina 26 wt não tendo sido possível quantificar os níveis de expressão da conexina mutada com nenhuma das três mutações dado que não se observaram as bandas correspondentes. A repetição destes resultados sugere a não expressão das Cx26. Os resultados de imunofluorescência na presença da mutação p.Leu213X, evidenciam uma marcação perinuclear, enquanto que tanto com a mutação p.Gly160Ser como com a mutação p.Gly160Cys se observa uma marcação mais forte no núcleo, estes dados de alguma forma apoiam os dados obtidos com o Western Blot, mas, nos controlos não foi possível observar a imunomarcação da Cx26. Da análise comparativa da hipotética sequência tridimensional da Cx26 wt com cada uma das sequências referentes às quatro mutações em estudo (p.Leu213X, p.Gly160Ser, p.Gly160Cys e p.Ala40Gly), observaram-se diferenças entre os modelos obtidos para as 4 mutações. Estes resultados parecem sugerir a patogenicidade das mutações estudadas, já que as diferenças observadas poderão levar a alterações na função da proteína expressa o que justificaria os resultados obtidos nos estudos funcionais. Conclusões: Em termos epidemiológicos, as principais conclusões deste estudo permitem indicar que na sua maioria: 1) os idosos portugueses apresentam presbiacusia (79% dos casos da amostra), Quanto aos resultados genéticos resultantes do estudo do locus DFNB1 permitem concluir que: 1) apenas 5% dos indivíduos possuem mutações em GJB2 e nenhum em GJB6, pelo que o locus DFNB1 não parece estar associado à origem da presbiacusia ainda que esta amostra apresente uma incidência de portadores maior do que a população em geral; 2) As mutações p.Leu213X, p.Gly160Ser e p.Gly160Cys parecem ser patogénicas dado que não parecem expressar-se ao contrário da proteína wt, o que é suportado por não se ter conseguido as proteínas nas células HeLa e também porque se observam diferenças nas conformações da proteína normal e das proteínas mutadas nos modelos preliminares desenvolvidos; 3) a proteína p.Ala40Gly identificada em dois indivíduos desta amostra e de patogenicidade controversa segundo a bibliografia, poderá ser patogénica considerando as diferenças observadas nas hipotéticas conformações, mas não se realizaram estudos funcionais que apoiem este dado.
Introduction: The ear is a sensory organ which function is the transmission and translation of sounds to the brain. Hearing loss is a condition where a person loses part or all of their ability to hear sound. Age-related hearing loss or presbycusis is a multifactorial illness resulting from years of intrinsic and extrinsic factors affecting the inner ear during a life time. Locus DFNB1 was the first to be identified in autosomal recessive hearing loss and contains two neighbouring genes in chromosome 13, GJB2 and GJB6, which belong to the same cluster and codify two transmembrane proteins, connexin 26 and connexin 30, respectively. Research based on genetic and molecular studies has allowed us to make huge advances in understanding hearing loss, suggesting that this condition could be avoided and treated early on. Objectives: Our specific objectives are to: 1) understand the role played by genes GJB2/GJB6 in age-related hearing loss; 2) study the new mutations that have been identified in the Portuguese population, to better understand their pathogenicity. Material and methods: Analysis of 200 DNA samples taken from the blood of elderly Portuguese volunteers. Research into the mutations was carried out on 80 samples of gene GJB2 and 120 samples of gene GJB6, amplified by PCR. Four mutations were studied: p.Leu213X, p.Gly160Ser p.Gly160Cys and p.Ala40Gly, identified in the Portuguese population. In vitro cultures of HeLa cells were performed for expression and immunolocalization studies and functional studies using 3-D protein modelling programmes. This latter approach was also applied in the study of the identified p.Ala40Gly mutation in the study sample. Results and discussion: The group of 200 people has 68.5% women (n=137) and 31.5% men (n=63) between 50 and 90 years of age. The research into the mutations in gene GJB2 found that 5% of people had a heterozygote mutation. Three mutations, p.Arg143Gln, p.Ala40Gly and p.Met93Ile, were identified for the first time in Portuguese people. Using Western Blot it was not possible to quantify the levels of expression in the mutated connexin with the three mutations. Using the immunofluorescence technique, the location of connexin 26 on the cellular membrane was not observed. In the comparative analysis of the structure of the wild Cx26 and the protein containing one of the four mutations under study, differences were seen in all four cases. The results suggest these mutations are pathogenic as the differences observed may explain alterations in the function of the protein expressed and so they may affect hearing loss. Conclusions: The main conclusions of this study, epidemiologically speaking show: 1) Portuguese elderly present presbycusis (79% dos cases).The genetic results of the studies of the DFNB1 locus allow to conclude that: 1) only 5% of individuals have GJB2 mutations and none present GJB6 mutations, so the locus DFNB1 does not seem to be an important factor in presbycusis, although a high level was found in a prevalent number of carriers of the mutations in GJB2, above that found in the population at large; 2) Mutations p.Leu213X, p.Gly160Ser and p.Gly160Cys seem to be pathogenic as they do not appear to be expressed in the cellular membranes of the cells nor is it possible to quantify their low level of expression in those cells. The differences observed in the conformations created point to this conclusion, when compared to a normal protein; 3) The Ala40Gly protein was identified in two individuals from a controversial pathogenicity sample.

Trabalho de Projeto do Mestrado Integrado em Medicina apresentado à Faculdade de Medicina
Introdução: A presbivertigem e a presbiacusia estão entre as doenças mais comuns no idoso e podem ter um efeito catastrófico na sua qualidade de vida. Contudo, a relação entre presbivertigem e presbiacusia não está bem descrita na literatura. O objetivo deste estudo é avaliar a qualidade de vida, as comorbilidades e a medicação em doentes com presbivertigem numa amostra de doentes com presbiacusia.Métodos: Duzentos e sessenta doentes com diagnóstico de presbiacusia foram recrutados para o estudo. Destes, 18 doentes apresentavam presbivertigem e os seus resultados de videonistagmografia foram analisados. A presença de um diagnóstico documentado de comorbilidades (hipertensão, diabetes mellitus, e dislipidémia) e história de acidente vascular cerebral ou enfarte agudo do miocárdio prévio, bem como medicação atual, foi avaliada e comparada. Adicionalmente, foram avaliados os resultados das escalas «Hearing Handicap Inventory for the Elderly» (HHIE) e «Dizziness Handicap Inventory score» (DHI).Resultados: Verificou-se uma forte correlação positiva entre os resultados da escala DHI e os resultados da PTA (0.7) e uma correlação moderada entre DHI e HHIE (0.5). No entanto, os resultados da PTA indicam limiares inferiores no grupo de doentes com presbivertigem. A prevalência de comorbilidades foi superior no grupo com presbivertigo, mas a correlação foi estatisticamente significativa apenas para hipertensão arterial e AVC (p<0.05). O uso documentado de anti-hipertensores verificou-se em todos os doentes com hipertensão. Nenhuma outra medicação esteve estatisticamente associada com a presença de vertigem. Conclusão: No grupo de doentes com presbivertigem verificou-se que a incapacidade relacionada com esta condição reportada pelos doentes está diretamente relacionada com a gravidade da perda de audição. Contudo, os resultados da PTA mostraram limiares inferiores para o grupo com presbivertigem. Na análise das comorbilidades, verificou-se uma correlação entre hipertensão arterial e vertigem; no entanto, este estudo não pode concluir se a hipertensão é fator de risco para vertigem no idoso, ou se uma consequência dos efeitos secundários dos anti-hipertensores. A ocorrência de AVC correlacionou-se com a existência de vertigem na amostra estudada, mas o número limitado de casos na amostra (dois) pode comprometer o significado desta correlação. Concluindo, são necessários mais estudos com uma base de dados mais alargada sobre esta temática.
Introduction: Age related dizziness (presbivertigo) and presbycusis are among the most common diseases in the elderly and can have a catastrophic effect in their life quality. However, the relationship between presbivertigo and presbycusis is not very well documented in the literature. The goal of this study is to compare the life quality, prevalence of comorbidities and differences in chronic medication in patients with vertigo in a sample of patients with presbycusis.Methods: Two hundred and sixty patients with a diagnosis of presbycusis were recruited for the study. Among those, 18 patients had presence of presbivertigo and their videonystagmography results were evaluated. The presence of a documented diagnosis of comorbidities (hypertension, diabetes mellitus (DM) and/or hyperlipidemia) and history of stroke, myocardial infarction (MI) as well as current documented medication was evaluated and compared. The pure tone average from audiometry (PTA) was also assessed. Additionally, the Hearing handicap inventory for the elderly (HHIE) and the Dizziness handicap inventory score (DHI) were evaluated.Results: There was a strong positive correlation (0.7) between DHI and PTA and a moderate correlation between DHI and HHIE (0.5). PTA was higher (30.22dB) in the group without vertigo when compared with the group with vertigo (24.34dB). The prevalence of comorbidities was higher in the group with presbivertigo but the correlation was only statistically significant for hypertension and stroke (p<0.05). All patients with hypertension had documented use of one or more antihypertensive agents. No other medication was statistically associated with presence of vertigo. Conclusion: The disability related with the dizziness reported by the presbivertigo group increases as PTA increases (and hearing disability worsens). However, PTA results showed lower thresholds for the group with vertigo. Among the comorbidities, hypertension was statistically correlated with vertigo, however, this study cannot conclude whether hypertension is a risk factor for vertigo or if it results from a side effect of anti-hypertensive medication. A correlation between stroke and presbivertigo in the studied sample was found, but the limited number of cases (two) may compromise the importance of the correlation. More studies with a larger database are needed.

Trabalho de projeto de mestrado, Bioestatística, Universidade de Lisboa, Faculdade de Ciências, 2017
Presbycusis or Age-Related Hearing Loss (ARHL) is the most prevalent sensorial impairment in the elderly, affecting more than 30% of people older than 65 years old. This condition has a negative impact on quality of life, which may lead to social isolation and the development of some psychiatric disorders. Although there are several studies based on prevalence of Hearing Loss (HL), only a few studies based on audiogram configurations or HL pattern were made. The main aim of this study was to identify dominant audiogram patterns. Furthermore, based on that a classification procedure was build relying in a sample of 321 individuals aged between 62 and 115 years old. The obtained classification was validated through Principal Component Analysis (PCA) and Linear Discriminant Analysis (LDA) and then compared with audiogram pattern identification procedures existing in the literature. Finally, some statistical models were adjusted to the data in order to investigate the influence of demographic, environmental, medical and genetic factors in both, audiogram pattern and mean quantity of HL. In this study, the overall prevalence of presbycusis was 79.1%, being significantly different among age groups, increasing gradually with aging. The most common audiogram configuration was High Frequency Steeply Sloping (HFSS) (51.2%), followed by High Frequency Gently Sloping (HFGS) (29.6%) and FLAT (14.5%). Through cluster analysis techniques it was possible to identify three distinct groups of audiogram patterns. These patterns were significantly associated with gender and noise exposure. Besides the audiogram pattern, the mean quantity of HL, increases with the age of the individuals. The results suggest the existence of three main audiogram patterns, significantly associated with gender and noise exposure and confirm the positive association between age and HL prevalence or mean amount of HL.
A Presbiacusia ou Perda Auditiva Associada ao Envelhecimento é a limitação sensorial mais comum, afetando mais de 30% das pessoas com idade superior a 65 anos. Esta condição tem um impacto negativo na qualidade de vida dos indivíduos, podendo levar ao isolamento social e ao desenvolvimento de doenças neurodegenerativas. Embora existam alguns estudos cujo objetivo tenha sido determinar a prevalência da perda auditiva na população, poucos foram efetuados com o intuito de investigar o padrão de perda ou a configuração do audiograma. O objetivo deste trabalho consistiu na identificação de padrões dominantes de perda auditiva recorrendo à análise de clusters e construção de um procedimento de classificação com base numa amostra de 321 indivíduos com idade compreendida entre os 62 e 115 anos. A classificação obtida foi validada com recurso à análise de componentes principais e à análise discriminante, e posteriormente, comparada com procedimentos de identificação de padrões descritos na literatura. Por fim, foram ajustados alguns modelos estatísticos com o intuito de investigar a influência de fatores demográficos, ambientais, clínicos e genéticos quer nos padrões determinados, quer na perda auditiva média. Neste estudo, a prevalência de presbiacusia foi de 79.1% sendo significativamente diferente entre faixas etárias, verificando-se um aumento gradual com o avançar da idade. A configuração do audiograma mais comum foi a HFSS (51.2%), seguida da HFGS (29.6%) e da FLAT (14.5%). Através de técnicas de análise de clusters foi possível identificar a existência de três grupos distintos de padrões de audiograma. A distribuição dos indivíduos em cada um desses grupos foi associada significativamente ao género e à exposição ao ruído. Independentemente do padrão, verificou-se que a perda auditiva média dependia da idade. Os resultados sugerem a existência de três padrões de presbiacusia, significativamente associados ao género e à exposição ao ruído, e confirmam, a associação positiva existente entre a idade e a ocorrência de perda auditiva ou perda média auditiva.

博士
國立陽明大學
公共衛生研究所
96
OBJECTIVES: Presbycusis(age-related hearing impairment) is a common degenerative disorder among the geriatric population that warrants attention in a society with an aging population. Taiwan meets the World Health Organization’s criteria for a society with an aging population, with more than 9% of its population older than 65. The health-related issues of older persons, which include presbycusis, are of growing concern in Taiwan. A literature review of epidemiologic studies indicates that the prevalence of presbycusis differs among different groups of people. Prevalence data of presbycusis in older persons in Taiwan, however, is scarce. The objective of the present study was to report our analysis of a community-recruited cohort of elderly subjects aged 65 and older in Taipei, Taiwan, on (1) the prevalence and severity of presbycusis(age-related hearing impairment) in this cohort; (2) the use and need for hearing aids among the hearing-impaired, and also among the self-perceived hearing-handicapped; (3) the relationship between a hearing impairment and a self-perceived hearing handicap among this group of elderly persons, and (4) the various characteristics, besides hearing ability, associated with a self-perception of a hearing handicap among those subjects with a moderate -to-profound hearing impairment. METHODS: A cross-sectional survey of community-dwelling elderly persons age 65 and older participating in an annual general purpose geriatric health examination in 2005 in Taipei. Pure-tone audiometry and a questionnaire including the Hearing Handicap Inventory for the Elderly-Screening Version (HHIE-S) were administered, after obtaining the subject’s consent to participate in the study. Demographic information, lifestyle, self-report health status, and biochemical data were also collected. RESULTS: A total of 1232 people aged 65 or older were recruited, among them 11 subjects with a history of bilateral ear disorder (ear drum perforation, hearing impairment since youth) were excluded. Thus, 1221 subjects (682 men and 539 women) were used for the final analysis. The main study findings are (1) The study cohort showed pure-tone thresholds worsening, especially at frequencies >2 kHz with increasing age. The mean pure-tone average at speech frequencies (0.5, 1, and 2 kHz) of the better ear of subjects stratified by 5-year age groups ranged from 34.9 dB hearing level (HL) to 46.4 dB HL. The pure-tone average at speech frequency in women was slightly higher than that in men in all age groups. When comparing the mean pure-tone thresholds of men and women at different audiometric frequencies within each age group, a “gender-reversal” phenomenon similar to that reported by Jerger et al was noted. That is, above 2 kHz men showed greater average loss than women, but below 2 kHz women showed greater average loss than men. At 2 kHz, there was no gender difference. The prevalence of presbycusis (defined by M3≥55dBHL) was 1.6% (65-69 years), 3.2% (70-74 years), 7.5% (75-79 years), and 14.9% (≥80 years); (2) Only 10.8% of who might be benefited by hearing aids(with M4≧55dB HL) were present-user of them. For study subjects with moderate-to-profound hearing impairment (M4≥41 dB HL), 5.0% of those with HHIE-S<10 and 45.4% of those with HHIE-S≥10 used or required hearing aids (χ2 test, p<0.001). The data suggested that a self-perceived hearing handicap (HHIE-S≥10) might be a better indicator than hearing impairment for referral for hearing aid fitting among elderly persons; (3) There was a moderate association (γs=0.521) between hearing impairment and self-perceived handicap. Only 21.4% of the study subjects with moderate-to-profound hearing impairment (M4≥41 dB HL, n=555) perceived themselves as hearing-handicapped (HHIE-S total score≥10). Besides hearing level, marital status (widowed) and self-perceived general health (bad or neutral) were all factors significantly associated with a self-perceived hearing handicap among elderly subjects with moderate-to-profound hearing impairment CONCLUSIONS: These data provide primary quantitative information about estimates of prevalence and severity of presbycusis(age-related hearing impairment) among Taiwanese people. Since presbycusis is quite a common phenomenon among the older people, the findings of this study implied the high-risk subgroups with a self-perceived hearing handicap who would more likely to need the hearing rehabilitation services.

碩士
國立臺灣大學
臨床醫學研究所
94
The aging human auditory system is manifested by deterioration of two critical dimension of hearing, namely, reduction in threshold sensitivity and reduction in the ability to understand speech. The deterioration in speech perception ability results not only from the problems of peripheral hearing organs but also affected by the degeneration of central auditory system. Further more, the elderly listener’s difficulties increase dramatically more than the young listeners whenever the speech message is degraded. These difficulties may due to a central integrative and synthesizing hearing disability that reflects a progressive deterioration of the CNS. Twelve subjects aged over 61 with normal peripheral hearing will be included in this study. Another twelve young subjects aged between 21 and 31 will serve as control. Functional MRI will be performed while these subjects were listening to speech (both in quiet and in noise) binaurally using a Bruker’s 3T scanner. A pre-recorded continuous discourse is used as the speech signal. The same signal plus a background white noise (S/N ratio: + 5 dB) serve as the hearing in noise counterpart. Results showed that the SDS and activation patterns were very similar between young adults and elderly people during speech listenig, but the SDS and extent of activation decreased obviously in both groups durning speech listening in white noise, especially in elderly people. The reduced activation was mainly located in the anterior and posterior parts of superior temporal gyrus of both hemispheres, especially in the left side. The IWV of auditory cortex was smaller in elderly subjects than in young subjects, so as to the cluster levels and the voxel levels, especially in cluster levels. In addition, the ratio of the noise-induced masking effect in IWV was much greater in elderly subjects than in young subjects. Both of the cluster levels and voxle levels, especially in cluster levels, were also decreased greatly in elderly subjects. Furthermore, compared to speech listening alone, the activation increased in the left putamen, the anterior part of the right STG (BA 38), pulvinar of right thalamus, right claustrum and left caudate tail during speech listening in noise in younger adults. However, only medial dorsal nuclei of the thalamus of both hemispheres were additionally activated during speech listening in white noise in elderly subjects. To conclude, the early changes of central presbycusis maily located in anterior and posterior parts of the superior temporal gyrus, and suprior part of the middle temporal gysus of both hemispheres. Top-down mechanism during speech listening in noise were reduced in elderly subjects.

Eine der häufigsten Behinderungen des alternden Menschen stellt die Beeinträchtigung der Hörfunktion durch degenerative Veränderungen der Cochlea, beispielsweise am Ganglion spirale, am CORTI-Organs oder an der Stria vascularis dar. Basierend auf histologischen und funktionellen Untersuchungen, wird die Altersschwerhörigkeit (Presbycusis) beim Menschen durch SCHUKNECHT und GACEK (1993) in sechs verschiedenene Typen eingeteilt: sensorisch, strial/metabolisch, neural, cochlear-konduktiv, gemischt, unbestimmt. Die in diesem Rahmen auftretenden pathophysiologischen und pathomorphologischen Veränderungen der Cochlea sind bedingt durch hörschädigende Faktoren (u.a. Lärm, ototoxische Substanzen, Infektionen sowie genetische Ursachen), die im Laufe des Lebens im Bereich des peripheren Hörorgans und der zentral auditiven Verarbeitung gewirkt haben. Die meisten in der Literatur beschriebenen Untersuchungen, die sich mit cochleären Alterationen mit zunehmendem Alter befassen, wurden an Labortieren unternommen und beschreiben oft nur Alterationen einzelner Strukturen, nicht aber der gesamten Cochlea. Bei Hunden sind in der Literatur überwiegend ausführliche Untersuchungen bezüglich der kongenitalen vererbten Taubheit, z.B. bei Dalmatinern, beschrieben. Es existieren jedoch kaum Studien über altersbedingte morphologische und funktionelle Veränderungen der Cochlea bei Hunden. Das Ziel dieser Arbeit besteht daher in der (immun-) histologischen Untersuchung der Cochlea von 50 Hunden im Alter von 7 Tagen bis 16 Jahren, um altersbedingte morphologische und funktionelle Veränderungen in der Cochlea von Hunden, die nicht unter Laborbedingungen gehalten wurden, zu charakterisieren und sie mit den Befunden an Innenohren von anderen Tierarten und des Menschen zu vergleichen. Anhand der erhobenen Befunde sollen anschließend eventuelle Rückschlüsse auf intra vitam vorhandene Hörstörungen gezogen werden.

Trabalho Final do Mestrado Integrado em Medicina apresentado à Faculdade de Medicina
Introduction: Vestibular dysfunction and presbycusis are very prevalent disorders in the general population and increasing research indicates a possible association between vestibular hypofunction and hearing loss associated with aging. Symptoms of dizziness, dizziness and imbalance may result from vestibular dysfunction, involving altered sensation of movement (of one's own and / or environment) and instability. On the other hand, presbycusis corresponds to a loss of hearing capacity with aging. The individual physical and psychological impact of vestibular dysfunction is significant, contributing to an increased risk of falls. Thus, the strong negative socio-economic impact associated is highlighted.Objective: The objective of this systematic review is to analyze the possible relationship between Vestibular Hypofunction and Hypoacusis associated with aging, and what or which pathophysiological mechanisms involvedMaterials and methods: A PubMed / MedLine bibliographic search was performed with the following keywords: "vestibular function", "presbycusis", "dizziness", and "aging".Results: A total of 1507 articles were obtained, most of which are cross-sectional and cohort studies. After applying inclusion and exclusion criteria, 10 articles were selected for final analysis.Conclusion: There is an association between auditory and vestibular dysfunction associated with aging, and the exact mechanism of aging is incompletely known. Possible explanations are the common embryological origin between vestibular and auditory structures, the effects of excessive sound exposure, and the metabolic and vascular degenerative processes associated with aging.
Introdução: A Disfunção Vestibular e a Presbiacusia são distúrbios muito prevalentes na população em geral e investigação crescente indica uma possível associação entre hipofunção vestibular e hipoacusia associadas ao envelhecimento. Os sintomas de vertigem, tontura e desequilíbrio podem resultar da disfunção vestibular, envolvendo a sensação alterada de movimento (do próprio e/ou do ambiente) e instabilidade. Por outro lado, a presbiacusia corresponde a uma perda da capacidade auditiva com o envelhecimento. O impacto físico e psicológico individual da disfunção vestibular é significativo, contribuindo para um aumento do risco de queda. Assim, salienta-se o forte impacto socioeconómico negativo associado. Objetivo: O objetivo desta revisão sistemática é analisar a possível relação entre a Hipofunção Vestibular e a Hipoacúsia associada ao envelhecimento, e qual ou quais os mecanismos fisiopatológicos envolvidos. Materiais e métodos: Foi realizada uma pesquisa bibliográfica PubMed/MedLine, com as seguintes palavras-chave: “vestibular function", "presbycusis”, “dizziness" e " aging”. Resultados: Foram obtidos 1507 artigos, sendo que a maioria são estudos de coorte e transversais. Após aplicação de critérios de inclusão e exclusão, foram selecionados 10 artigos para análise final. Conclusão: Verifica-se uma associação entre a disfunção auditiva e vestibular associadas ao envelhecimento, sendo que o mecanismo exato deste processo está incompletamente conhecido. Explicações possíveis são a origem embriológica comum entre estruturas vestibulares e auditivas, efeitos da exposição sonora excessiva e os processos degenerativos metabólicos e vasculares associados ao envelhecimento.

Age-related sensory loss and major neurocognitive impairment are two of the leading drivers of non-fatal disability burden among the oldest-old, and are often reported to co-occur. Both biological and social explanations have been given to account for links between these two functional domains. This thesis explores inter-associations between age-related hearing-loss with cognitive function. The broad substantive aims of this dissertation are: 1) to document the levels of hearing impairment, dual sensory loss, and co-morbid hearing-loss with cognitive impairment in an older adult population; 2) to identify predictors of decline in hearing acuity and its association with all-cause mortality risk; 3) to investigate longitudinal pathways between hearing thresholds, hearing aid use and processing speed. The Dynamic Analyses to Optimise Ageing (DYNOPTA) project is a collaborative inter-disciplinary project that has pooled nine Australian longitudinal studies of ageing. The DYNOPTA project constitutes an important methodological backdrop to this thesis. Data pooling is advantageous because it can enhance representativeness of a population, increased statistical power and allows for direct replication of effects. However, variability in study protocols and the need to orientate functionally equivalent measures onto a common scale can create analytic challenges. A subsidiary aim of this thesis will be to illustrate and evaluate the use of harmonised longitudinal data pooled from independently designed epidemiological surveys. This research presented in this thesis primarily draws upon data from two contributing DYNOPTA studies that began in the early 1990s and are ongoing. These two studies were selected because they collected functionally equivalent clinical measures of hearing, vision and cognition, as well as a range of comparable contextual variables including data on socio-demographics, health, noise exposure, and hearing aid use. Multistate Markov Chain models estimated transition rates and expected years lived with sensory impairment. Joint Survival-Growth Curve models demonstrated that hearing loss was associated with increased mortality risk in women but not in men. Linear Mixed Models were used to identify predictors of hearing trajectories. Bi-variate Dual Change Score models demonstrated that low levels of hearing were leading indicators of subsequent rates of decline in processing speed. Finally, hearing-aid use was shown to be associated with improved levels of processing speed after adjusting for the effects of hearing thresholds, but did not attenuate rates of decline in processing speed. Hearing loss and cognitive impairment are highly prevalent and contribute to a significant number of years lived with functional impairment in late life. Links between hearing and cognition may be due to common biological processes. Alternatively, hearing loss could limit opportunities to engage in activities that promote and maintain cognitive reserves. Reductions in cognitive resources may also mean that older adults are less well equipped to deal with sensory ageing. In the context of this thesis, the main benefits of pooling and harmonization were the capacity to derive coarse population level estimates and the fostering of inter-disciplinary collaboration. However, it was necessary to return to the use of single study data to facilitate investigations into more fine grained causal pathways between hearing and cognition.

Trabalho Final do Mestrado Integrado em Medicina apresentado à Faculdade de Medicina
Introduction: Presbycusis is defined as age-related hearing loss, corresponding to one of the main chronic pathologies in the elderly. Patients affected by this condition reveal a decreased quality of life, having a greater tendency for developing depression and dementia. The appropriate treatment is aural rehabilitation through hearing aids, and there are several models with different levels of technology and technical characteristics. However, there is a lack of consensual research in this field suggesting better results obtained by hearing aids with advanced technology compared to hearing aids with basic technology. This study aims to verify the influence of the technical characteristics of hearing aids in the functional gain, both tonal and vocal, as well as in the quality of life in patients with Presbycusis.Methodology: 28 individuals aged 65 years or older, with a previous diagnosis of Presbycusis, were divided into 3 groups according to hearing aid technology, classified as basic, middle, and advanced. Subsequently, the functional gain, tonal and vocal, was evaluated, comparing the results obtained between groups. The Portuguese version of the Abbreviated Instrument for Quality of Life Assessment (WHOQOL-Bref) was also applied, and the results were compared between groups as well. The statistical analysis of the obtained data was conducted using the Statistical Package for the Social Sciences (SPSS) program.Results: No statistically significant differences were found between groups with different levels of hearing aid technology, in terms of tonal (p = 0,056) and vocal (p = 0,241) functional gain as well as in terms of quality of life. However, it was observed that the groups of participants with hearing aids with middle and advanced technology obtained superior results, both in terms of functional gain and quality of life, compared to the group of participants with hearing aids with basic technology.Conclusion: Although there were no statistically significant differences between the groups in terms of both functional gain and quality of life, it appears that groups with advanced technology obtained better results compared to users of hearing aids with basic technology. Thus, more research must be developed in this field, so that the process of aural rehabilitation can become more effective and optimized, allowing the restoration of hearing function and quality of life in these patients.
Introdução: A Presbiacúsia define-se como uma perda auditiva associada ao envelhecimento, correspondendo a uma das principais patologias crónicas na pessoa idosa. Esta condição determina uma diminuição da qualidade de vida, existindo uma maior propensão para o desenvolvimento de depressão e demência. O tratamento convencional reside na reabilitação auditiva por aparelho auditivo, existindo diversos modelos com níveis de tecnologia e características técnicas que diferem entre si. No entanto, não existe investigação suficiente e consensual neste campo que indique a influência que o nível de tecnologia dos aparelhos auditivos pode ter em diversos campos de avaliação na população geriátrica. Este estudo tem como objetivo verificar a influência do nível tecnológico dos aparelhos auditivos no ganho funcional, quer tonal e vocal, assim como na qualidade de vida em doentes com Presbiacúsia.Material e métodos: 28 indivíduos com idade igual ou superior a 65 anos, com diagnóstico prévio de Presbiacúsia, foram divididos em 3 grupos segundo a tecnologia dos aparelhos auditivos, classificada como básica, intermédia e avançada. Posteriormente, foi avaliado o ganho funcional, a nível tonal e vocal, comparando os resultados obtidos entre os grupos. Foi, também, aplicado o Instrumento Abreviado de Avaliação da Qualidade de Vida da Organização Mundial de Saúde (WHOQOL-Bref), tendo-se igualmente realizado a comparação dos resultados entre grupos. A análise estatística dos dados foi conduzida através do programa Statistical Package for the Social Sciences (SPSS), versão 26.Resultados: Não foram encontradas diferenças estatisticamente significativas entre os grupos com diferentes níveis de tecnologia de aparelhos auditivos, no que se refere ao ganho funcional tonal (p = 0,056) e vocal (p = 0,241), assim como no que respeita à qualidade de vida. No entanto, observou-se que os grupos com aparelhos auditivos de tecnologia intermédia e avançada obtiveram resultados superiores, tanto a nível de ganho funcional como de qualidade de vida, comparativamente ao grupo com aparelhos auditivos de tecnologia baixa.Discussão/Conclusão: Embora não se tenham observado diferenças estatisticamente significativas entre os grupos tanto ao nível de ganho funcional como na qualidade de vida, verifica-se que que os grupos com tecnologia superior obtiveram melhores resultados comparativamente com pessoas idosas utilizadoras de aparelhos auditivos com tecnologia baixa. Assim, mais investigação deve ser desenvolvida neste campo, para que o processo de reabilitação auditiva se possa tornar mais eficaz e otimizado, permitindo a restituição da função auditiva e da qualidade de vida nestes doentes.

Tese de doutoramento em Ciências da Saúde, no ramo de Medicina, na especialidade de Otorrinolaringologia, apresentada à Faculdade de Medicina da Universidade de Coimbra
Presbycusis, or age-related hearing loss, is a multifactorial disorder characterized by symmetrical progressive hearing loss. In the beginning it usually affects the high frequencies of sound, although its presentation and clinical course can be variable. These high frequencies are responsible for word recognition (carried by the consonants during the speech). So the clinical hallmark of this disorder is the difficulty in comprehending words rather than not hearing. Patients often refer complaints of tinnitus and vertigo associated with the hearing loss. Presbycusis affects about two thirds of the population older than 70 years old and its prevalence increases as the population grows older. It is not exclusive of old age but up to 80 percent of functionally-significant hearing loss occurs in older adults. The insidious onset of the disorder and the slow course of hearing decline may postpone the diagnoses and, if left unrecognized, can lead to progressive social withdrawal, isolation and significant familial stress, with a huge impact in the quality of life of the patient. Until now, the main concern of this hearing loss was the audiogram threshold, but we cannot neglect the social and emotional impact that this disorder has on our patients. A multidisciplinary diagnosis approach of the problem is in the order of the day. In our study a patient registry database was created dating from 2010 onwards. A total of 2643 individuals were diagnosed with presbycusis, 50,7% male and 49,3% female patients from the Ear Nose and Throat (ENT) appointment in the ENT Department of Coimbra University Hospitals. The age distribution among the patients was similar for the male and female patients, and the mean age was 69,6 years. All these patients were followed on a regular bases and had a careful follow-up with pure tonal audiogram and vocal audiogram, but there was no concern or evaluation regarding the quality of life. In this line of thinking we decided to select a tool to evaluate this impact. After a systematic review of the literature we selected the Hearing Handicap Inventory for Elderly (HHIE). This screening instrument is widely used and has been going through adaptations and validations for other languages worldwide. All of these versions have kept the validity and reliability of the original version and have been useful to assess the psychosocial handicap of hearing impairment in the elderly. We began our work by translating the HHIE to Portuguese from Portugal. In our study two hundred and sixty (260) patients from our database volunteered to answer the 25-item HHIE during an Ear Nose and Throat (ENT) appointment. Correlations between each individual item and the total score of the HHIE were tested, and demographic and clinical variables were also correlated with the total score. The instrument’s reproducibility was assessed using the internal consistency model (Cronbach alpha). The reliability of the instrument was proven by the 0,79 Cronbach Alpha Index. We were also able to see that the total HHIE score was significantly related to the hearing threshold level. We were able to access the psychometric properties of the HHIE, translated into Portuguese, and to validate this instrument on the studied population. We would also like to emphasize the importance of this instrument to assess the psychosocial handicap of hearing impairment in the elderly. There is no direct treatment of presbycusis, but there are multiple options available to compensate for hearing loss and its impact on wellbeing. We consider that when the high- frequency thresholds are greater than 40 dB on the audiogram a rehabilitation option is in order. We have several options like a hearing aid or, in more severe cases, ear implants (middle ear, bone conduction implants and bone cochlear implants). Despite the high prevalence of individuals with presbycusis in our study (2643), only a small number of these (3.14%) were hearing aid users (HAu), of which 67.45% were female. It is important to understand these numbers and so we selected once more a questionnaire, the International Outcome Inventory for Hearing Aids (IOI-HA), an important instrument, widely used, that has been going through adaptations and validations for other languages. Therefore, the aim of our article was to validate and implement the IOI-HA on the Portuguese population. In our prospective study, eighty (80) hearing aid users aged 18 or older (from the initial data base), hearing aid users (unilateral or bilateral) were tested; eighty-four percent (84%) of the participants were unilateral hearing aid users, whereas 16% were bilateral users (the questionnaire was answered after its translation from English to Portuguese from Portugal. The mean of the total score of the International Outcome Inventory for Hearing Aids in this population was 27.33 ± 4.93 (9 – 35). The mean values obtained in each item of the questionnaire ranged from 3.19 to 4.54. The Cronbach Alpha was 0.838 and the Cronbach Alpha values when the item was removed were also significant. Thus, we were able to assess the psychometric properties of the translated version of the IOI-HA, which may be useful to assess perceived hearing aid benefit for patients who speak Portuguese (from Portugal). This questionnaire is also a valuable tool when evaluating patients with other rehabilitation options like bone conduction implants, middle ear implants and cochlear implants. In conclusion, we hope that these studies will help us in the future to answer questions regarding the wellbeing of our patients, to minimize comorbidities associated with presbyscusis and finally to understand the reason for such a poor adhesion to the hearing rehabilitation options. We believe that this can be the starting point for a fresh vision of this disorder. A presbiacusia ou surdez neurossensorial relacionada com a idade é uma patologia multifatorial caraterizada por perda progressiva da audição. No início da sintomatologia as frequências agudas são as mais afetadas, embora a apresentação da presbiacusia possa ser variável. Estas frequências da audição são responsáveis pelo reconhecimento da palavra no discurso oral, é por esse motivo que estes doentes, mais do que surdez, referem dificuldade em perceber as palavras. A presbiacusia afeta aproximadamente dois terços da população mundial com idade superior aos 70 anos e a sua prevalência aumenta ao mesmo ritmo do envelhecimento. Não sendo uma surdez exclusiva da terceira idade, cerca de 80% dos casos ocorrem em idosos. Dado o início insidioso da patologia e a progressão lenta da perda auditiva, o diagnóstico da presbiacusia pode ser protelado levando a um isolamento social do doente, que não compreende o que lhe dizem, com um enorme impacto na qualidade de vida. A principal preocupação que tínhamos com estes doentes prendia-se com a perda auditiva evidenciada pelo audiograma, mas não podemos negligenciar de todo o impacto social e emocional que os doentes podem manifestar. Um diagnóstico multidisciplinar está assim na ordem do dia. O nosso estudo teve início com a criação de uma base de dados em 2010, em que foram incluídos os doentes com presbiacusia observados em consulta externa do Serviço de Otorrinolaringologia do Centro Hospitalar e Universitário de Coimbra; foram identificados um total 2643 casos dos quais 50,7% eram do sexo masculino e 49,3% do sexo feminino. A distribuição dos doentes em termos de estrato etário foi semelhante para os dois sexos e a media de idades foi de 69,6 anos. Estes doentes eram seguidos regularmente em consulta externa e nesse sentido pareceu-nos importante selecionar um questionário que nos permitisse avaliar o impacto na qualidade de vida relacionado com a presbiacusia. A partir de uma revisão sistematizada da literatura, selecionamos o Hearing Handicap Inventory for Elderly (HHIE), uma “ferramenta” importante, com adaptações para múltiplas línguas e em que todas as versões foram validadas mantendo as características psicométricas da versão original. Iniciamos assim o nosso trabalho com a tradução do HHIE para a língua Portuguesa. Foram testadas as correlações individuais em cada item e o score final do questionário. Correlacionamos as variáveis demográficas e clinicas com o score final. Avaliamos a consistência interna, variabilidade teste-reteste e validade discriminante. A reprodutividade e consistência interna geral dos itens foi observada por um valor alto do alfa de Cronbach (0,79). No final verificou-se que o score elevado do HHIE estava relacionado com limiares auditivos mais elevados. Foi assim possível proceder à sua adaptação e validação para a população estudada, confirmando as propriedades psicométricas do HHIE. Gostaríamos ainda assim de destacar a importância deste instrumento de trabalho para avaliar o handicap psicossocial dos doentes idosos com presbiacusia. Não há tratamento para a presbiacusia, no entanto existem múltiplas opções que permitem compensar a perda auditiva e melhorar o estado geral dos doentes. Em termos gerais considera-se que os doentes com um limiar auditivo a partir dos 40 decibéis no audiograma tonal têm indicação para uma opção de reabilitação auditiva, com recurso a próteses ou implantes auditivos (de ouvido médio, de condução óssea e cocleares). Na vasta amostra do nosso estudo (2643) apenas um pequeno número, 3.14%, usavam próteses auditivas; destes 67.45% eram do sexo feminino. Perante um baixo número de doentes que recorreram a esta hipótese de reabilitação auditiva optamos por selecionar um questionário que nos permitisse avaliar o grau de satisfação dos doentes que usam próteses auditivas; selecionamos assim o International Outcome Inventory for Hearing Aids (IOI-HA) que tem sido utilizado e foi validado em varias línguas. Validar e implementar o IOI-HA na população portuguesa foi um dos objetivos da nossa tese. No nosso estudo prospetivo foram testados oitenta doentes com mais de 18 anos, utilizadores de próteses auditivas, oitenta e quatro por cento usavam próteses unilateralmente enquanto dezasseis por cento usavam bilateralmente. Todos os doentes responderam ao IOI – HA apos a sua tradução para Português (de Portugal). Analisamos os scores dos questionários entre os dois géneros, feminino e masculino. Utilizou-se o Coeficiente de Correlação de Pearson (adotando-se como significante o p-valor de 5%) foi avaliada a correlação entre cada item e o limiar medio audiométrico. A análise destes dados é fundamental para determinar a capacidade de descriminação e validade de cada uma das questões. A media do score total nesta população foi 27.33 ± 4.93 (9 – 35) e a dos valores obtidos para cada item do questionário variou entre 3.19 e 4.54. Estes dados e um score total acima de 50% demonstram que os doentes se encontram bem adaptados às próteses auditivas. Da análise da distribuição das repostas concluímos que são poucos os doentes que evidenciam algum grau de insatisfação. O alfa de Cronbach foi 0.838. Desta forma foi possível validar as propriedades psicométricas da versão traduzida do IOI-HA, que nos parece de suma importância para avaliar o grau de satisfação relativo à utilização de próteses auditivas na população portuguesa. A validação deste questionário permite ainda avaliar do grau de satisfação relativo a outras medidas de reabilitação auditivas como os implantes de condução óssea, de ouvido medio e cocleares. Em conclusão, esperamos que este estudo nos permita ter uma perspetiva mais vasta sobre a esta patologia, em particular em relação à qualidade de vida dos doentes.