Thesis (M. Communication Pathology)--University of Pretoria, 2006. / Summary in English and Afrikaans. Includes bibliographical references.

Thesis (M. Communication Pathology)--University of Pretoria, 2005. / Summary in English and Afrikaans. Includes bibliographical references.

INTRODUÇÃO: O sistema auditivo eferente tem a função de regular e controlar a atividade do sistema auditivo aferente proporcionando ao indivíduo melhores condições para decifrar a mensagem acústica, fazendo parte, portanto, do processamento auditivo central. A detecção, acompanhamento e intervenção precoce em alterações do sistema eferente são de suma importância para minimizar os efeitos nocivos do distúrbio de processamento auditivo ao longo da vida. MATERIAL E METODO: Foram avaliados 125 RN(s) de ambos os gêneros, sendo 79 pertencentes ao grupo de baixo risco para deficiência auditiva e 46 do grupo de alto risco. A amostra foi submetida à EOET, EOEPD e PEATE com e sem a presença de um ruído branco contralateral a orelha testada emitido a 60 dBNPS. Foi calculado o efeito de inibição (EI) resultante da subtração do valor do nível de resposta total, no caso das EOE e da amplitude e latência da onda V no PEATE na condição sem ruído contralateral do valor obtido com ruído contralateral. O efeito de inibição foi analisado dentro de cada grupo segundo as variáveis orelha, gênero e condição de estimulação. Foi analisado, também, o efeito de inibição entre os grupos avaliados. Foi verificado, ainda, a correlação entre efeito de inibição e idade gestacional, pós-concepcional e fatores de risco, bem como foi verificada a correlação do efeito de inibição entre os testes aplicados. RESULTADOS: A média do EI observado pelas EOET foi de 0,3 dB na orelha direita (OD) e na orelha esquerda (OE) no grupo de baixo risco e de 1,2 dB (OD) e de 0,8 dB (OE) no grupo de alto risco. Nas EOEPD o EI foi maior nas frequências baixas em ambos os grupos. No PEATE a média do EI da amplitude da onda V foi de 0,07 µV (OD) e de 0,06 µV (OE) no grupo de baixo risco e de 0,03 µV (OD) e de 0,06 µV (OE) no grupo de alto risco. A média do EI da latência da onda V nos grupos de baixo e alto risco foi respectivamente de -0,02 ms na OD e OE e de -0,03 ms(OD) e 0,1 ms(OE). Não houve diferença estatisticamente significante do EI entre as orelhas e gêneros em ambos os grupos. A comparação entre as condições de estimulação mostrou diferença estatisticamente significante na OD e OE nas EOET no grupo de alto risco e na amplitude e latência no PEATE em ambos os grupos. Houve diferença estatisticamente significante do EI da OD entre o grupo de baixo e alto risco nas EOET e PEATE. Com o aumento da idade gestacional não houve um aumento do número de RN(s) com presença de EI nos testes aplicados. Com o aumento da idade pós-concepcional houve um aumento do valor médio do EI. Não houve variação linear do valor do EI conforme aumentava o número de fatores de risco. Houve maior concordância dos resultados da avaliação do sistema eferente entre as EOET e PEATE. CONCLUSÕES: O PEATE detectou maior número de RN(s) com presença de EI no grupo de baixo risco quando comparado ao grupo de alto risco. / The efferent auditory system has the function of regulating and controlling the activity of the afferent auditory system providing better conditions for individuals to decipher acoustic messages, therefore, it is part of the central auditory processing. The detection, monitoring and early intervention of changes in the efferent system is of paramount importance to minimize the harmful effects of auditory processing disorders throughout life. MATERIAL AND METHODS: 125 newborn infants of both genders have been screened, of which 79 belonged to the low-risk group for hearing loss and 46 to the high-risk group. The sample underwent OAET, OAEDP and ABR with and without the presence of white noise contralateral to the ear tested emitted at 60 dB SPL. Effect of inhibition (EI) was evaluated, resulting from subtracting the value of the total level of response, in the case of OAE and the amplitude and latency of wave V in the ABR provided without contralateral noise from the value obtained with contralateral noise. The effect of inhibition was analyzed within each group according to the variables ear, gender and condition of stimulation and also among the groups. The correlation between effect of inhibition and gestational age, postconceptional and risk factors was observed, as well as the correlation of the effect of inhibition between the tests carried out. RESULTS: Mean EI observed for OAET was 0.3 dB in the right ear (RE) and left ear (LE) in the low-risk group and 1.2 dB (RE) and 0.8 dB (LE) in the high risk group. In OAEDP EI was greater at low frequencies in both groups. In the mean EI ABR wave amplitude V was 0.07 microvolts (RE) and 0.06 microvolts (LE) in the low-risk group and 0.03 microvolts (RE) and 0.06 microvolts (LE) in the high risk group. The average EI of wave V latency in the groups of low and high risk was respectively -0.02 ms in the right and left ears and -0.03 ms (RE) and 0.1 ms (LE). There was no statistically significant difference in EI between the ears and genders in both groups. The comparison between the conditions of stimulation showed a statistically significant difference in RE and LE in OAET in the high risk group and the amplitude and latency of ABR in both groups. There was a statistically significant difference in EI between the RE group of low and high risk in OAET and ABR. The number of newborn (s) with presence of EI did not increase with increasing gestational age. Increasing post-conceptional age showed an increase in the Mean EI in the tests carried out. There was no linear variation of the value of EI as the number of risk factors increased. There was greater agreement amongst the results of the evaluation of the efferent system between OAET and ABR. CONCLUSIONS: ABR detected a higher number of newborn (s) with the presence of EI in the low-risk group when compared to the high-risk group.

This study assessed the effective use of pure-tone testing versus speech testing as used to predict the degree of hearing handicap experienced by an individual. Twenty-one subjects over the age of 65 were tested. Each subject was administered the following test battery: spondee threshold; a pure-tone evaluation, including air and bone conduction; Speech Perception in Noise (SPIN) test; Synthetic Sentence Identification (SSI) test; NU-6 for speech discrimination; establishment of most comfortable listening level (MCL) and loudness discomfort listening level (LDL); immittance testing including tympanograms, acoustic reflex thresholds, and reflex decay.

In the evaluation of special populations, such as neonates, infants and malingerers, audiologists have to rely heavily on objective measurements to assess hearing ability. Current objective audiological procedures such as tympanometry, the acoustic reflex, auditory brainstem response and transient evoked otoacoustic emissions, however, have certain limitations, contributing to the need of an objective, non-invasive, rapid, economic test of hearing that evaluate hearing ability in a wide range of frequencies. The purpose of this study was to investigate distortion product otoacoustic emissions (DPOAEs) as an objective test of hearing. The main aim was to improve prediction of pure tone thresholds at 500 Hz, 1000 Hz, 2000 Hz and 4000 Hz with DPOAEs and artificial neural networks (ANNs) in normal and hearing-impaired ears. Other studies that attempted to predict hearing ability with DPOAEs and conventional statistical methods were only able to distinguish between normal and impaired hearing. Back propagation neural networks were trained with the pattern of all present and absent DPOAE responses of 11 DPOAE frequencies of eight DP Grams and pure tone thresholds at 500 Hz, 1000 Hz, 2000 Hz and 4000 Hz. The neural network used the learned correlation between these two data sets to predict hearing ability at 500 Hz, 1000 Hz, 2000 Hz and 4000 Hz. Hearing ability was not predicted as a decibel value, but into one of several categories spanning 1 OdB. Results for prediction accuracy of normal hearing improved from 92% to 94% at 500 Hz, 87% to 88% at 1000 Hz, 84% to 88% at 2000 Hz and 91% to 93% at 4000 Hz from the De Waal (1998) study to the present study. The improvement of prediction of normal hearing can be attributed to extensive experimentation with neural network topology and manipulation of input data to present information to the network optimally. The prediction of hearing-impaired categories was less satisfactory, due to insufficient data for the ANNs to train on. A prediction versus ear count correlation strongly suggested that the inaccurate predictions of hearing-impaired categories is not a result of an inability of DPOAEs to predict pure tone thresholds in hearing impaired ears, but a result of insufficient data for the neural network to train on. This research concluded that DPOAEs and ANNs can be used to accurately predict hearing ability within 10dB in normal and hearing-impaired ears from 500 Hz to 4000 Hz for hearing losses of up to 65dB HL. / Thesis (DPhil (Communication Pathology))--University of Pretoria, 2007. / Speech-Language Pathology and Audiology / unrestricted

No description available.

Thesis (MScMedSc (Biomedical Sciences. Molecular Biology and Human Genetics))--University of Stellenbosch, 2009. / ENGLISH ABSTRACT: South Africa is currently facing a major multidrug-resistant tuberculosis (MDR-TB) epidemic and has one of the highest incidences in the world. Aminoglycoside antibiotics are commonly used in this country as a treatment against MDR-TB. A well known side-effect of aminoglycosides is permanent hearing loss and this is thought to have a significant genetic component. To date, at least six mutations in the mitochondrial genome are known to confer susceptibility to aminoglycosideinduced hearing loss. It is imperative that we investigate the frequency of these mutations in our populations and determine whether certain sub-groups are at increased risk. The aim of the present study was therefore to investigate the genetic aetiology of aminoglycoside-induced hearing loss in the South African population. A multiplex method using the ABI Prism® SNaPshotTM Multiplex system was optimised to screen for six mutations in the MT-RNR1: A1555G, C1494T, T1095C, 961delT+C(n), A827G and T1291C. A total of 115 MDR-TB patients from the Brooklyn Chest Hospital in Cape Town who were receiving high doses of either streptomycin, kanamycin or capreomycin were recruited for this study. Furthermore, 439 control samples, comprising of 93 Afrikaner, 104 Caucasian, 112 Black and 130 Mixed Ancestry individuals were recruited and screened for the presence of the six mutations. Identification of novel variants in the MT-RNR1 and the entire mitochondrial genome was performed using High Resolution Melt analysis (HRM) and whole mitochondrial DNA sequencing, respectively. A total of 97 family members from a South African family known to harbour the A1555G mutation were recruited and genotyped using SNaPshot analysis. In addition, mitochondrial functioning in the presence of different streptomycin drug concentrations, in transformed lymphoblasts of an individual harbouring the A1555G, was assessed by means of the MTT colorimetric assay. Detection of heteroplasmic mutations was performed using PCRRestriction Fragment Length Polymorphism (RFLP) analysis and UN-SCAN-IT software. We successfully developed a robust and cost-effective method that detects the presence of all six mutations simultaneously. The method worked equally well on both blood (from adults) and buccal swabs (from children). The C1494T, T1095C and T1291C mutations were not detected in any of the MDR-TB or control groups. Alarmingly, the A1555G mutation was detected in 0.9% of the Black control samples and in 1.1% of the Afrikaner controls (in one sample in the heteroplasmic state 25%). The A827G mutation was present at a frequency of 0.9% in the MDR-TB patients and in 1.1% of the Afrikaner controls. The 961delT + insC(n) mutation was found in relatively high frequencies in both the MDR-TB patients (3.5%) and control groups (1.1% of the Afrikaner, 1.5% of the Mixed Ancestry and 7.1% of the Black samples). Similarly, the T961G mutation was III detected at high frequencies in the Caucasian (2.9%) and Afrikaner (3.2%) controls. Screening for novel variants in MT-RNR1 in MDR-TB patients experiencing ototoxicity revealed two novel variants (G719A and T1040C). However, G719A and T1040C are not likely to be pathogenic since they were detected in ethnic-matched controls: Mixed Ancestry (20.7%) and Black (1.8%) controls. Furthermore, a total of 50 novel variants were identified within the mitochondrial genome of eight MDR-TB patients with ototoxicity. Only five of the 50 variants (one in the MT-TH, ND3, COX3 and two in the CYTB gene) were shown to reside at positions that are evolutionarily conserved across five species from human to frog, and the four variants in the protein coding genes resulted in missense changes. A total of 76 of the 97 family members recruited were found to be A1555Gpositive (on mitochondrial haplogroup L0d) and are therefore at risk of developing irreversible hearing loss. Genes and variants known to act as genetic modifiers: tRNASer(UCN), homozygous A10S in TRMU and 35delG in GJB2 were not present in this family. For the MTT assay, decreased mitochondrial functioning of cells harbouring the A1555G mutation in the presence of streptomycin were (compared to wild type) observed but this was not statistically significant (p-value: 0.615- 0.999). The high frequency of the A1555G mutation (0.9%) in the Black population in South Africa is of concern given the high incidence of MDR-TB in this particular ethnic group. However, future studies with larger numbers of samples are warranted to determine the true frequencies of the aminoglycoside deafness mutations in the general South African population. Our data suggests that the 961delT + insC(n) and T961G variants are common non-pathogenic polymorphisms due to the high frequencies observed in controls (>1%). The identification of the first novel variants within protein coding genes that could possibly be associated with aminoglycoside-induced hearing loss holds great possibilities with regards to the identification of a second gene involved in drug induced hearing loss. Future studies where the possible effect of these variants on the normal functioning of these genes could be assessed would contribute greatly to this field of research. All 76 A1555Gpositive members of the family were given genetic reports and counseled about their risk and that of their children for developing hearing loss due to aminoglycoside use. The development of a rapid and cost-effective genetic method facilitates the identification of individuals at high risk of developing hearing loss prior to the start of aminoglycoside therapy. This is of critical important in a low-resource country like South Africa where, despite their adverse sideeffects, aminoglycosides will be continue to be used routinely and are accompanied with very limited or no audiological monitoring. Future studies and greater public awareness is therefore needed to address this serious problem. / AFRIKAANSE OPSOMMING: Suid Afrika beleef tans „n grootskaalse tuberculose epidemie (veral weerstandige vorme van tuberculose) (MDR-TB), met een van die hoogste voorkomssyfers in die wêreld. Aminoglikosied antibiotikums word baie algemeen gebruik in Suid Afrika vir die behandeling van MDR-TB. ‟n Bekende newe effek van die middels is permanente gehoor verlies en dit is van mening dat dit gekoppel is aan „n genetiese component. Daar is tans ses mutasies in die mitochondriale genoom wat vatbaarheid tot aminoglikosied-geinduseerde gehoor verlies veroorsaak. Daarom is dit van uiterse belang dat die frekwensie van die mutasies in ons populasies bepaal word sodat daar vasgestel kan word watter groepe „n hoë risiko het om gehoor verlies te kan ontwikkel. Die ABI Prism® SNaPshotTM Multipleks sisteem is gebruik en geoptimiseer om te toets vir die ses mutasies in die MT-RNR1: C1494T, T1095C, 961delT+C(n), A827G and T1291C. „n Totaal van 115 MDR-TB pasiente van die Brooklyn Chest Hospital in Kaap Stad is gewerf vir die studie. Hierdie pasiente ontvang daaglikse hoë dosese van een van die volgende aminoglikosiede: streptomycin, kanamycin of capreomycin. Verder is „n totaal van 439 kontrole DNA monsters gewerf vanuit die volgende etniese groepe: 93 Afrikaner, 104 Blank, 112 Swart and 130 Kleurling. Hierdie monsters is ook getoets vir die ses mutatsies. Hoë Resolusie Smelt analise (HRS) is gebruik om nuwe DNS volgorde veranderinge in die MT-RNR geen te identifiseer. Die hele mitochondriale genoom is blootgestel aan DNA volgorde bepaling in „n poging om nuwe DNS volgorde verandering in die genoom te identifiseer wat moontlik betrokke kan wees by aminoglikosied-geinduseerde gehoor verlies. „n Total van 97 lede van „n Suid Afrikaanse familie waar die A1555G mutasie teenwoordig is, is deur middle van die SNaPshot metode gegenotipeer. Verder is die normale funcitoneering van die mitochondrion in getransformeerde witbloed selle, getoets in die teenwoordigheid van verskillende konsentrasies streptomycin met behulp van die MTT kleurmetrie toets. Deteksie van heteroplasmiese mutasies is gedoen deur middle van die PCR-RFLP tegniek en alle analises is gedoen op die UN-SCAN-IT program. Ons was suksesvol in die ontwikkeling van „n vinnige, koste effektiewe en kragtige tegniek wat al ses die mutasies in MT-RNR1 in een reaksie kan optel. Hierdie tegniek het goed gewerk met DNA monsters van bloed en van selle verkry vanuit die wangholte (geneem van kinders jonger as 12 jaar). Die C1494T, T1095C en T1291C mutasies is glad nie waargeneem in enige van ons MDR-TB patiente of kontroles nie. Skrikwekkend is die hoë frekwensie (0.9%) waarby die A1555G mutasie in die Swart kontrole groep waargeneem is. Hierdie mutasie is ook in 1.1% van die Afrikaner kontrole groep opgemerk in heteroplasmie van 25%. Die A827G mutasie was teenwoordig in 0.9% en 1.1% van die MDR-TB patiente en Afrikaner kontrole monsters, onerskeidelik. Die 961delT + insC(n) mutasie is opgemerk in baie hoë frekwensies in beide die MDR-TB (3.5%) en kontrole groepe (1.1% van die Afrikaner, 1.5% van die Kleurling en 7.1% van die Swart monsters). Die T961G mutasie is ook in hoë frekwensies in slegs die Blanke (2.9%) en die Afrikaner (3.2%) kontrole groepe waargeneem. Nuwe DNS volgorde veranderinge in MT-RNR1 is gesoek in „n groep MDR-TB patiente wat gehoor verlies ondervind. Slegs twee nuwe verandering is ontdek (G719A en T1040C). Dit is onwaarskynlik dat hierdie veranderinge patogenies is siende dat hulle teen frekwensies van 20.7% en 1.8% waargeneem is in die Kleurling en Swart kontrole groepe onderskeidelik. Tydens die soeke na nuwe DNS volgorde veranderinge wat moontlik geassosieer is met aminoglikosied-geinduseerde gehoor verlies in die mitochondriale genoom is 50 onbekende veranderinge ontdek (een in die MT-TH, ND3, COX3 en twee in die CYTB gene). Die veranderinge is verder ondersoek vir evolusionêre konservasie op beide die nukliotied en amino suur vlak van mens to padda. Dit is bevind dat 76 uit die 97 familie lede positief is vir die A1555G mutasie en het dus „n hoë risiko om aminoglikosied-geinduseerde gehoor verlies te ontwikkel as hul bloot gestel word aan hierdie antibiotikums. Verder is gevind dat hierdie familie op die L0d mitochondriale haplogroep lê. Geen van die sogenaamde genetiese modifiseerde gene of DNS volgorde veranderinge in hierdie gene (tRNASer(UCN), A10S in TRMU in homosigotiese vorm en die 35delG in GJB2) is gevind in die familie nie. Die MTT toets het „n afname in die mitochondriale funksioneering van selle waar die A1555G mutasie teenwoordig was getoon, alhoewel die verskil tussen selle wat nie die A1555G mutasie het nie, nie statisties betekenisvol was nie (p-waarde: 0.615-0.999). Die hoë frekwensie van die A1555G mutasie (0.9%) in die Swart populasie van Suid Afrika is skrikwekkend siende dat die voorkomssyfer van MDR-TB in hierdie groep baie hoog is. Toekomstige studies met grooter getalle is nodig om die ware frekwensie van die mutasies geassosieer met aminoglikosied-geinduseerde gehoor verlies in die algemende Suid Afrikaanse populasie te bepaal. Ons data dui aan dat die 961delT + insC(n) en die T961G mutasies slegs algemene nie-patogeniese polimorphismis is siende dat dit in sulke hoë frekwensies (>1%) in kontroles opgemerk is. Die identifiseering van die eerste DNS volgorde veranderinge in proteïen kodeerende gene wat moontlik geassosieer is met aminoglikosied-geinduseerde gehoor verlies hou groot en belowende moontlikehede in, interme van die identifiseering van „n tweede geen. Toekomstige studies waarin die effek van hierdie veranderinge op die normale funktioneering van hierdie gene ondersoek word sal „n besondere groot bydrae lewer tot hierdie veld van navorsing. Al 76 van die A1555G positiewe familie lede is voorsien van genetiese verslae en het berading ontvang in verband met hul risiko en die risiko van hul kinders om aminoglikosied-geinduseerde gehoor verlies te ontwikkel. Die ontwikkeling van „n kragtige, vinnige en koste-effektiewe genetiese metode vergemaklik die vinnige identifiseering van hoë risiko individue vir die ontwikkeling van gehoor verlies voordat hulle met hul aminoglikosiede behandeling begin. Dit is veral noodsaaklik in „n derde wêreld land soos Suid Afrika waar, ten spyte van hul gevaarlike newe effekte, aminoglikosied antibiotikums steeds gebruik sal word. Daarom is grooter publieke bewusmaking nodig om hierdie problem te probeer oplos en te verhoed.

published_or_final_version / Speech and Hearing Sciences / Master / Master of Science in Audiology

This study concerns audiometric evaluation and prediction of hearing loss in the autistic child based on information derived from acoustic reflex thresholds. Two groups (autistic males and normal children) of five subjects each were utilized. Results indicated that the acoustic reflex method consistently predicted significantly higher hearing thresholds for autistic subjects than operant pure-tone audiometric procedures. Furthermore, the acoustic reflex thresholds were significantly less sensitive in the autistic group than in the normal group, suggesting that the acoustic reflex response is somehow altered in autistic individuals. These findings are consistent with earlier work which hypothesized that autistics, manifest an organic brain lesion which interferes with the propagation of auditory information.

A thesis submitted in fulfilment of the requirements for the degree of Doctor of Philosophy (PhD) in the Faculty of Humanities at the University of the Witwatersrand, Johannesburg, South Africa. December 2017. / Unilateral hearing loss (UHL), commonly known as 'single-sided deafness,' constitutes an ignored and under-researched population group. The limited existing research has established that persons with UHL tend to experience challenges in various social, emotional, language and academic areas, and thus persons with UHL experience more problems than previously realised. This study aims to address this gap by exploring the socio-emotional experiences of three persons with UHL. In addition, the researcher’s personal narrative as a person with UHL is included to provide another perspective. The participants were interviewed which provided narratives The theoretical framework of Bronfenbrenner's Bioecological model (1977-2009) and Vygotsky's (1962-1998) theories of language were used to interpret the influence of a child's surrounding social and cultural environments, and their interactions. The narrative data were analysed and interpreted using coding and categorising processes. Findings from the personal narratives revealed themes of anger, isolation, frustration as well as, indicated that children with UHL require assistance regarding disclosing their hearing loss. Additionally, topics such as ‘teasing’, ‘disturbing experiences during hearing loss diagnosis’ and ‘feelings of loneliness’ were also revealed. This study established that a child's surrounding social and cultural environments play a significant role in shaping their attitudes and perceptions of their unilateral hearing loss, and not all of the participants experienced disabling social challenges. Those who have intervention opportunities such as counselling, develop more effective communication and coping skills required for persons with UHL. In addition, links between interventions and coping skills were also revealed. Recommendations for future research include investigating the links between a child with UHL, intervention and coping skills, with a particular focus on their quality of life experiences. Significantly, there is a need for intervention programmes that address the social and emotional needs of children with UHL on an individual basis. Keywords Unilateral hearing loss; hearing related quality of life; Coping skills; Expressive Language; Stories; Autoethnography; Narrative Inquiry. / LG2018