Dissertations / Theses: 'Deafness'

1

Moorhead, David. "Meanings of deafness." Thesis, University of Bristol, 1995. http://hdl.handle.net/1983/3feb3d6b-3169-4ccd-9e33-aa2cdbec834e.

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This thesis investigates the ways that different groups of people may perceive the experience of deafness. It explores the nature of power in relationships between these groups, and the way people may or may not be able to exercise control over the circumstances of their lives. It studies the nature and origins of challenges to traditional ways of understanding deafness, which see it as a loss, which pathologise the experience of those who are deaf, and place responsibility for alleviation and management with individuals. It places the experience of deaf people at the centre of the study and uses their accounts, with those of people who work with them in the personal social services, to create a framework for understanding the experience of deafness and to uncover issues for further investigation. It describes the development of a methodology to use in this form of investigation which values people's own perceptions and experience above imposed meanings and adopted certainties. It outlines a framework that arises from this form of analysis of people's accounts, and sets out a commentary which explores issues about identity, challenge, voices, languages, separation,d enial, acknowledgement,h elp and power. It suggestsh ow this framework can be used to look at ways that deaf people experience deafness, how deaf and hearing people interact with one another in mediating relationships, and how power and control are exercised in these. It looks at similarities as well as differences in people's experiences, and how similarities with other marginalised and oppressed groups of people place deaf people and their experience on a wider political and humanitarian context

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2

Musella, Valentina <1987&gt. "LEXICON AND DEAFNESS." Master's Degree Thesis, Università Ca' Foscari Venezia, 2014. http://hdl.handle.net/10579/4360.

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3

Harris, Jennifer Audrey. "The cultural meaning of deafness." Thesis, Lancaster University, 1994. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.238920.

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Tyson, Jessica Grace. "Molecular genetic studies of deafness." Thesis, University College London (University of London), 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.325406.

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Shearer, Aiden Eliot. "Deafness in the genomics era." Diss., University of Iowa, 2014. https://ir.uiowa.edu/etd/4750.

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

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Smith, Hannah. "Signs, text, truth : constructions of deafness." Thesis, University of Reading, 2005. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.433460.

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Bitner-Glindzicz, Maria Aniela Katarzyna. "Molecular genetics of X-linked deafness." Thesis, University College London (University of London), 1996. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.362334.

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8

Wang, Ye. "Literate thought metatheorizing in literacy and deafness /." Connect to resource, 2005. http://rave.ohiolink.edu/etdc/view?acc%5Fnum=osu1124137478.

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9

Sloan-Heggen, Christina Marie. "Precision health and deafness–optimizing genetic diagnosis." Diss., University of Iowa, 2018. https://ir.uiowa.edu/etd/6287.

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Deafness is the most common sensory deficit in humans. In the United States 1-2 in a thousand babies is born with significant deafness, well over half of which is hereditary. Providing a patient and their family with a genetic diagnosis is the ultimate form of precision health and medicine; it can provide education, impact medical testing and treatment, provide peace of mind, and someday will be the key to providing gene specific therapies. Historically, providing this diagnosis was difficult, expensive, and time consuming due to the extreme clinical and genetic heterogeneity of non-syndromic hearing loss (NSHL). Targeted genomic enrichment and massively parallel sequencing (TGE+MPS) have revolutionized the field of precision health and medicine, allowing for comprehensive genetic diagnosis of many complicated conditions, including NSHL. To take advantage of this advance in technology, the OtoSCOPE® platform was created, targeting all known deafness-causing genes and creating the first comprehensive genetic test for this condition. With the implementation of OtoSCOPE® we aspire to accomplish two aims: providing comprehensive genetic diagnosis for patients all over the world and characterizing the full spectrum of hereditary hearing loss. The goal of my thesis work has been to use OtoSCOPE® to better understand the landscape of NSHL in multiple populations and to use this knowledge to further optimize it to be the most effective and tailored diagnostic tool possible for individuals with deafness. In order to achieve these goals, we investigated a few unique populations. We first evaluated the effectiveness of diagnosis of OtoSCOPE® on two preselected cohorts of 302 Iranian and 9 Cameroonian probands with autosomal recessive NSHL (ARNSHL). We can now better define the frequent causes of NSHL in Iranians with a high degree of inbreeding, and begin to understand the spectrum of deafness in Sub-Saharan Africa that has previously been underutilized. Next we sought to determine the spectrum of hearing loss within a clinical cohort in the United States by evaluating 1119 sequentially accrued probands for whom the OtoSCOPE® panel was ordered as a diagnostic test. This analysis allowed us to determine the overall diagnostic success of OtoSCOPE® (39%), the most common genes responsible for NSHL, the overall breadth of genes that can be identified within a cohort like this (49 genes), and patient characteristics which impact the likelihood of providing a positive diagnosis. This study permitted us to recommend use of OtoSCOPE® or other TGE+MPS diagnostic tools early in the diagnostic process of a patient with NSHL. Finally, we interrogated the contribution of syndromic forms of deafness which may actually manifest as NSHL (NSHL mimics) within two deafness cohorts. We performed a retrospective chart review of 14 families with syndromic deafness seen by the Genetic-Eye-Ear Clinics to determine which methods are the most efficient and effective at providing an accurate diagnosis through the combination of collaborative clinical and molecular genetic diagnostic tools. We also performed a secondary analysis of 2384 sequentially accrued probands clinically evaluated with OtoSCOPE®, specifically evaluating the impact of panel versioning and inclusion of additional NSHL mimics. We recommend use of OtoSCOPE® as a diagnostic tool to most patients with apparent NSHL, and utilize an automatic positive feedback loop to ensure the most comprehensive and accurate diagnosis possible. All of these studies have lead to the better understanding of the genes and variants that cause NSHL and its mimics, providing a more accurate genetic diagnosis, which is prerequisite to a future of targeted genetic therapies.

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Engl, Gertraud [Verfasser], and Doron [Akademischer Betreuer] Rapaport. "Involvement of Deafness Dystonia Protein 1 in the Pathomechanism of Deafness-Dystonia-Optic Neuronopathy Syndrome / Gertraud Engl ; Betreuer: Doron Rapaport." Tübingen : Universitätsbibliothek Tübingen, 2012. http://d-nb.info/1160309744/34.

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Bajaj, Yogesh. "Causes of deafness in East London Bangladeshi children." Thesis, University College London (University of London), 2007. http://discovery.ucl.ac.uk/1444066/.

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The aim of this study was to examine the causes of sensorineural hearing loss in the Bangladeshi population resident in East London. Almost all of this population originates from Sylhet, a province in Bangladesh. The study was conducted at a community based audiology clinic and tertiary level genetics department. One hundred and fifteen families (134 patients) were ascertained 11 families declined to participate and 4 families could not be contacted. All children of Bangladeshi ethnic origin with bilateral sensorineural hearing loss more than 40dB in the better hearing ear were included in this study. Information on all these patients was collected from their case notes. For the 67 patients in whom the cause of deafness was not clear from the records or unknown (or non- syndromic deafness), families were seen in the research clinic. The prevalence of deafness >40db in Bangladeshi children under 16 years of age in East London was calculated to be approximately 3.86 per 1000 (95%CI: 3.24, 4.47). This is nearly 2.3 times the national average. Parents were consanguineous in 35 out of 105 families (33.3%) in which this information was available. On calculating the prevalence of deafness in the Bangladeshi children belonging to non-consanguineous families, the prevalence falls to 2.72 per 1000 (95%CI: 2.10, 3.34). Genetic causes appear to be the most common cause of deafness in Bangladeshi population in 59.6% patients. Environmental causes were responsible for hearing loss in 18.5% patients and in 21.8% cases the cause of deafness was undetermined. Of the deafness due to genetic causes, 57.7% were non-syndromic, 25.3% syndromic and 16.9% were chromosomal. The single most common cause of sensorineural hearing loss in the Bangladeshi population in this study was due to mutations in the GJB2 gene (Connexin 26) in 14 of these families. The mutations in GJB2 in this population were W24X, IVS1 + 1G->A, M1V, V95M and W77X. W24X was the most common mutation seen in 40% (8/20) patients. Genetic causes are the common cause of deafness in subjects of Bangladeshi origin and 29.8% children with non-syndromic deafness were positive for mutations in GJB2.

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12

Stewart-Kerr, Patricia. "The experience of acquired deafness : a psychological perspective." Thesis, Queen's University Belfast, 1992. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.317531.

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Cupitt, Rebekah. "Make difference : Deafness and video technology at work." Doctoral thesis, KTH, Medieteknik och interaktionsdesign, MID, 2017. http://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-197915.

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Video meetings are a regular part of work at Swedish television’s editorial for programming in Swedish Sign Language (SVT Teckenspråk). In the process of creating television programming in Swedish Sign Language, SVT employees communicate with and through technologies. This ethnographic exploration of video meetings at SVT Teckenspråk presents how deafness is reconfigured between hearing, interpreters, and video meeting technology within the context of a public service organisation. Concepts such as technology, meetings, organisations, and visuality are re-formulated from within the context of SVT Teckenspråk and interpreted using feminist and queer theory frameworks. These re-examined concepts are embedded in the history of SVT Teckenspråk and presented as part of the everyday way of holding video meetings. Technologies and people become intertwined and co-constitutive as moments of video meetings are subsequently understood not as human-technology ‘interactions’ but as intra-actions. Using empirical examples of video meetings collected during fieldwork, this thesis evinces how the materialities of video meeting technology relate to the ways in which deafness is or is not enacted, embodied, and co-constituted. Deafness is accordingly framed not as disability, but as a way of being - one that is founded on a different language, culture, and way of seeing. This emically-derived notion of being deaf impacts understandings and acts of video meetings at SVT Teckenspråk. Yet it is through people’s material intra-actions with technologies that notions of deafness emerge which run counter to ways of being deaf which SVT Teckenspråk employees’ (hearing and deaf alike) work hard to establish. Once technologies and the meanings co-created through people’s intra-actions with them are made visible, these same technologies disable rather than enable; making difference rather than making a difference.
Videomöten är en del av vardagsarbetet på SVT Teckenspråk där anställda kommunicerar via och med hjälp av teknologier i skapandet av television på teckenspråk. Denna etnografiska utforskning omkring videomöten på SVT Teckenspråk presenterar hur dövhet omkonfigureras i en sammanvävning mellan hörande, tolkar, samt videomötesteknik inom en public service organisation. Begrepp som teknologi, möten, organisationer, samt visualitet omformuleras med SVT Teckenspråk som sammanhang och tolkas sedan med hjälp av feministiska och queer teoretiska ramverk. Dessa begrepp analyseras ur ett historiskt perspektiv inom SVT Teckenspråk samt omanalyseras som en vardaglig del av videomöten. Teknologi och människa sammanvävs och omformar varandra i videomöteshändelser vilka därefter uppfattas som intra-aktioner snarare än människa-dator interaktioner. Genom empiriska uppslag på videomöten uppsamlade under fältarbete påvisar denna avhandling hur videomötesteknik och dess materialitet relaterar till de sätt som dövhet kan utövas, uttryckas, samt uppformas. Dövhet uppfattas som ett sätt att vara istället för som ett funktionshinder. Ett sätt som bygger på ett unikt språk, kultur, samt världssyn. Detta är SVT Teckenspråk anställdas sätt att förstå och vara i världen och kallas för ‘emic’. Utifrån ett emic perspektiv uppstår ett annat synsätt på dövhet och en ny förståelse av videomöten på SVT Teckenspråk. Trots detta uppstår genom materiella intra-aktioner med videomötesteknik uppfattningar omkring dövhet som strävar mot den syn som SVTs anställda (döva såsom hörande) medvetet etablerat. Istället för att införa jämställdhet och tillgänglighet framställer intra-aktioner med videomötesteknik olikheter mellan döva och hörande. De skapar skillnad istället för att göra skillnad.

QC 20161209

Drivers and Barriers for Mediated Meetings
Disabling Technology? Access and Inclusion in the Deaf/Hearing Workplace

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14

Banakis, Renee Michelle. "Media Influence on Perspectives of Deafness as Culture." Miami University Honors Theses / OhioLINK, 2005. http://rave.ohiolink.edu/etdc/view?acc_num=muhonors1114963978.

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Muhle, Anne. "Genetical aspects of congenital sensorineural deafness in Dalmatians /." Bern, 2001. http://www.ub.unibe.ch/content/bibliotheken_sammlungen/sondersammlungen/dissen_bestellformular/index_ger.html.

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Kartchner, Ruth Elizabeth Claros. "Ideologies of deafness: Deaf education in Hispanic America." Diss., The University of Arizona, 2000. http://hdl.handle.net/10150/284219.

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Minority language people are sometimes simplistically viewed as lacking the language of the majority, and Deaf people are simplistically viewed as lacking hearing, thus ignoring the sociocultural realities of both groups. It is only in the last two decades that attempts have been made to articulate a Deaf ideology that considers deafness as a sociocultural characteristic rather than a defect. This dissertation asserts that there are three different types of ideologies that have co-existed since the beginning of time, and that influence deaf education even today: (1) Deafness as a terminal trait: this is defined as the type of ideology that places deaf individuals on a track that leads to a dead end. (2) Deafness as a limiting trait: This ideology views the deaf as handicapped people with limited possibilities for attaining the highest possible intellectual goals; and (3) Deafness as a socio-cultural trait: This ideology views deaf people as having their own language and culture who can fully develop their intellectual capacity through their natural language and culture and the language and culture of the hearing society in which they live, thus becoming bilingual and bicultural. This dissertation will answer the following question: How have these ideologies shaped deaf education in Argentina, Chile, Colombia, Cuba, Ecuador, Guatemala, Mexico, Nicaragua, Puerto Rico, Uruguay, and Venezuela, in the areas of (a) language use; (b) educational trends; and (c) societal aims for the deaf population? The results of this research can help Latin American educators to re-evaluate deaf educational systems in use today, and educators of the deaf around the world. The Deaf in Hispanic America are witnessing the evolution of national paradigms as their languages are recognized as official in Venezuela, Uruguay, Colombia, Ecuador, Nicaragua and Cuba. Governments are taking legal action to recognize and to accept other forms of communication, such as sign language for the Deaf and Braille for the blind in Ecuador. The remaining countries do not recognize their sign language as official. Educators are implementing programs different approaches, such as oralism, Total Communication, and bilingual education, and integrating Deaf students into regular classes.

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Bowen, Sandra Kay. "Building bridges: Case studies in literacy and deafness." Diss., The University of Arizona, 1999. http://hdl.handle.net/10150/289059.

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Reading is an area that has concerned educators who work with students who are deaf or hard of hearing for many years. Studies from the 1960s to the present have concluded that students who are deaf read at lower levels than their hearing counterparts. The purpose of this study is to investigate the reading strategies used by students who are deaf, as they comprehend the written text. This study focuses on the strengths of individual students who are deaf, as they realize their potential as efficient readers and writers of a language they cannot hear. Qualitative case study research design initiated and guided this investigation. Through observations, interviews, and miscue analysis, I investigated two students' reading strategies. I was interested in the students' perspectives of their reading strategies, reading strengths, and thoughts about the reading process. Using constant comparative method of reading, organizing, and coding the data, an understanding of the students' reading strategies developed. A significant implication from this study is that students who are deaf use similar reading strategies as students with normal hearing in each of the three reading comprehension categories, predicting, sampling, and confirming. However, findings also and translation of the text from English to ASL, to assist their comprehension. Further research into each of these areas is warranted.

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18

Martin, Dawn L. "Effect of PMCA2 mutation on cochlear responses and their development in deafwaddler mice /." Thesis, Connect to this title online; UW restricted, 1999. http://hdl.handle.net/1773/8242.

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19

Mossop, Jennifer E. "Rapid reorganisation in the adult auditory system following unilateral deafening." Thesis, University of Oxford, 1999. http://ora.ox.ac.uk/objects/uuid:b82b9218-19f5-41a1-9c26-9f53b5c37c67.

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Rak, Simone Gerlinde. "Molecular genetic analysis of congenital deafness in Dalmatian dogs." [S.l.] : [s.n.], 2003. http://deposit.ddb.de/cgi-bin/dokserv?idn=981462391.

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Ballana, Guix Ester. "Molecular basis of deafness linked to mitochondrial DNA mutations." Doctoral thesis, Universitat Pompeu Fabra, 2007. http://hdl.handle.net/10803/7113.

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La seqüenciació del genoma humà ha marcat una fita important en la història de la biologia. Com a conseqüència, la genètica i la genòmica han experimentat un progrés enorme. Això ha permès un millor coneixement tant de les causes genètiques de malalties humanes, com del per què de les diferències comunes entre individus. Com a sistemes complexos que som tots els éssers vius, hem de considerar el paper que tenen les interaccions entre les diferents parts del genoma a l'hora d'especificar el resultat final, és a dir, el fenotip. Igualment, podem dir que el genoma conté un conjunt d'instruccions, però que la forma en què aquestes es porten a terme depèn, també de contingències ambientals i històriques. Per tant, la naturalesa de les instruccions genètiques no és completament determinista en tots els casos, si bé hi ha una sèrie de processos en què sí que es compleix aquesta perfecta relació entre herència i expressió final. Aquesta mateixa situació es presenta amb certes alteracions genètiques i amb el desenvolupament de patologies, la qual cosa facilita enormement el diagnòstic precoç i obre les possibilitats per a la teràpia genètica. Però la gran majoria de fenotips, incloent-hi moltes condicions d'interès per a la medicina, tenen una base complexa, és a dir, no existeix "el gen" que determina el caràcter de forma unívoca, sinó que aquest és el resultat de l'acció simultània de molts gens, no tots amb la mateixa participació, juntament amb l'efecte de l'ambient. Aquesta tesi doctoral va arrencar en aquest punt, tenint com a objectiu l'aprofundiment en les bases genètiques d'un tipus de sordesa lligada a mutacions al vi Preface DNA mitocondrial i de la qual se'n tenien evidències de la implicació tant de factors ambientals com diversos factors genètics. D'altra banda, els tests basats en l'ADN són un dels primers usos comercials i d'aplicació mèdica d'aquests nous descobriments de la genètica. Aquests tests poden ser utilitzats per al diagnòstic de malalties, confirmació diagnòstica, informació del pronòstic, així com del curs de la malaltia, confirmar la presència de malaltia en pacients assimptomàtics i amb diferents graus de certesa, predir el risc de futures malalties en persones sanes i en la seva descendència. Aquest és l'objectiu final, i sovint encara utòpic, de la recerca en biomedicina: una millor comprensió del procés biològic, que derivi en un millor tractament i prevenció de la malaltia. Aquesta tesi també ha volgut contribuir humilment en aquest aspecte. Durant aquests anys s'han recollit centenars de mostres de famílies sordes, amb la finalitat de donar un "diagnòstic" de la causa genètica. Poques vegades ho hem conseguit, però en qualsevol cas, si això alguna vegada ha ajudat a algú d'alguna manera, ja em dono per satisfeta.

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Varela, Mosquera Anabel. "The positional cloning of the mouse deafness gene whirler." Thesis, Imperial College London, 2002. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.270783.

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Chan, Jason Seeho. "'Change deafness' : an auditory analogue of visual 'change blindness'?" Thesis, University of Oxford, 2004. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.403972.

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Estee-Wale, Ricardo Solario. "Deafness, discourse and identity : critical issues in deaf education." Thesis, Durham University, 2004. http://etheses.dur.ac.uk/3058/.

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It has long been acknowledged that the main problem associated with deaf education is one of language. To remedy this issue, education polices and methods have focused on the children's inability to communicate effectively in the majority language and have imposed strict regimes within schools aimed at enabling deaf children to talk. This thesis offers a critical examination of such methods and also of the relevant discourses influencing deaf children within education. This thesis argues that the problems associated with deaf children’s experience within education starts, not at their point of entry into formal education, but at birth. My research highlights the fact that deafness is not primarily the deprivation of sound; it is the deprivation of a functional language. The arbitrary imposition of particular language policies within schools be it sign or spoken languages do not really address the underlying issues. This thesis is primarily a critique of the relevant discourses which are complemented by the experiences of the deaf children highlighted in my sample. This thesis show that without the consideration of deaf children’s views and experiences the problems inherent within deaf education will not be addressed adequately

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Morris, Julie. "Word deafness : a comparison of auditory and semantic treatments." Thesis, University of York, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.242176.

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Lee, Ming Yang. "Allele-specific siRNA therapy for keratitis-ichthyosis-deafness syndrome." Thesis, University College London (University of London), 2018. http://discovery.ucl.ac.uk/10052698/.

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Dominant mutations in the gene GJB2 cause keratitis-ichthyosis-deafness (KID) syndrome, a severe condition affecting the skin, cornea and inner ear. GJB2 encodes the protein connexin-26 (Cx26) which forms hemichannels or gap junction channels allowing the passage of signalling molecules. Approximately 80% of KID syndrome patients carry a c.148G > A (p.D50N) mutation in GJB2, which results in aberrant channel function. We hypothesised that silencing of the mutant allele in patient keratinocytes using allele-specific siRNA could correct the channel function. First, to confirm whether patient keratinocytes with only one wildtype GJB2 allele formed functional channels following allele-specific siRNA treatment, GJB2+/- keratinocytes were generated using CRISPR/Cas9. The scrape-loading dye transfer (SLDT) assay showed no distinguishable difference in gap junction intercellular communication (GJIC) between GJB2+/- and GJB2+/+ cells, suggesting normal GJIC in GJB2+/- keratinocytes. Nineteen siRNAs were designed and tested in HeLa cells expressing wildtype or mutant GJB2-GFP transgene. A lead siRNA, was discovered, which potently inhibited the mutant mRNA and protein without affecting wildtype GJB2 expression. The efficacy of the lead siRNA was assessed using keratinocytes derived from a KID syndrome patient (KID-KC) harbouring heterozygous c.148G>A mutation. These cells displayed pathological features of KID syndrome, with reduced gap junction plaque formation, impaired GJIC and hyperactive hemichannels confirmed by immunostaining, SLDT, patch clamp and neurobiotin uptake assays. Following treatment with the siRNA, selective silencing of mutant GJB2 allele in KID-KCs was confirmed at mRNA and protein levels. Significant improvement of GJIC and reversal of hemichannel activity were detected, with the latter corrected to a level comparable to that recorded in normal keratinocytes. Furthermore, RNA-Seq analysis showed that only six genes in the KID-KC transcriptome were significantly altered by the siRNA treatment, suggesting low-level off-target effects. In conclusion, allele-specific siRNA silencing of pathogenic dominant GJB2 mutation could be a potential therapeutic intervention for KID syndrome.

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Li, Yiwen. "Predicting hearing loss using auditory steady-state responses." Worcester, Mass. : Worcester Polytechnic Institute, 2009. http://www.wpi.edu/Pubs/ETD/Available/etd-011409-105327/.

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Fern, Kenneth L. "An analysis of the effectiveness of Company XYZ's Hearing Conservation Program." Online version, 2003. http://www.uwstout.edu/lib/thesis/2003/2003fernk.pdf.

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Cvejic, Dejan. "Congenital sensorineural deafness in client-owned pure-breed white cats." Diss., lmu, 2009. http://nbn-resolving.de/urn:nbn:de:bvb:19-104302.

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30

Carrott, Leanne J. "Characterisation of pitch : an early onset model of sensorineural deafness." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:f6488b47-ef6e-42db-9bb2-551ebfe9bc21.

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Poon, Brenda Tracy. "Parental reactions to deafness in children, a grounded theory investigation." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp01/MQ40143.pdf.

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Tan, Hua [Verfasser]. "CLC CHLORIDE CHANNELS IN INHERITED DEAFNESS AND HYPERALDOSTERONISM / Hua Tan." Düsseldorf : Universitäts- und Landesbibliothek der Heinrich-Heine-Universität Düsseldorf, 2018. http://d-nb.info/1172967997/34.

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Sherif, M. M. A. "Understanding the genetic basis of diabetes mellitus and sensorineural deafness." Thesis, University College London (University of London), 2015. http://discovery.ucl.ac.uk/1463447/.

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Diabetes mellitus (DM) is a common chronic disorder in children. Type1 DM is the most common form of DM and is due to the loss of insulin secretion by autoimmune destruction of pancreatic β-cells. Type2 DM is due to insulin resistance. Maturity Onset Diabetes of the Young is a heterogeneous group of monogenic disorders due to single gene defects. DM and sensorineural deafness (SND) are associated with rare syndromes such as Wolfram syndrome (WS), Rogers syndromes and Mitochondrial DM. WS is an autosomal recessive disorder characterised by diabetes insipidus, DM, optical atrophy and SND, caused by mutations in the WFS1 gene. Rogers syndrome is associated with DM, anaemia, SND and is due to mutations in SLC19A2. Mitochondrial DM (MT-TL1) is associated with SND in more than 60% of cases. The aims of this study were to exclude these known genetic causes of DM and SND and to identify novel genetic mechanisms. PCR, Sanger sequencing, homozygosity mapping (HZM) and exome sequencing was performed on the 5 families’ for the affected and unaffected siblings to identify novel variants. Immunohistochemistry was used to see whether the candidate protein was expressed in the pancreatic and inner ear tissues. This study has identified 3 novel and 1 known mutations in the WFS1 gene. This work expands the molecular spectrum of the WFS1 mutations in WS, with three novel mutations in three unrelated consanguineous families. However, WS should be considered in any patients with DM and SND. The study also identified two novel genes; NOX1 and SSH2, with the former expressed in both the inner ear and the pancreas and the latter only in the ear. This would suggest NOX1 as a potential new gene involved in DM and SND and SSH2 as being one of two mutations that are causing the DM and SND syndrome.

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Bosch, Jason. "Significance of connexion genes in non-syndromic deafness in Africans." Master's thesis, University of Cape Town, 2013. http://hdl.handle.net/11427/3088.

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Jaiganesh, Avinash. "Cadherin-23 Structure, Function, and Nanomechanics in Hearing and Deafness." The Ohio State University, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=osu1524185957175317.

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Fuente, Adrian. "Auditory damage associated with solvent exposure evidence from a cross-sectional study /." Thesis, Click to view the E-thesis via HKUTO, 2008. http://sunzi.lib.hku.hk/hkuto/record/b4020375x.

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He, Chenjin, and 何晨瑾. "A systematic review on noise-induced hearing loss prevention and conservation programs in children and adolescents." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2013. http://hdl.handle.net/10722/193842.

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Children suffering from noise-induced hearing loss could have disease burden such as communication difficulties, frustration, isolation as well as impaired self-cognition due to different degrees of hearing loss. Lack of hearing protection was the easiest way to tackle among the risk factors. Hence, the aim of this review is to review and synthesize existing evidence to show the effects of hearing conservation programs targeted on children and adolescents. Six studies included meeting strict requirements of inclusion and exclusion criteria. Significant improvements were shown in knowledge, attitude, intended behavior as well as hearing protective devices use regarding educational programs. However, limited effective consequence was shown in terms of audiometric threshold testing, thus, indicating limited effectiveness of educational programs in noise-induced hearing loss prevention. The results of hearing conservation programs were illustrated in details. And limitations as well as implications were discussed.
published_or_final_version
Medicine
Master
Master of Public Health

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Jiang, Dan. "Cochlear compound action potential and pathology following kanamycin ototoxity in the guinea pig." Thesis, Keele University, 1993. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.359039.

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Harmon, Kristen C. "Spectacles /." free to MU campus, to others for purchase, 1999. http://wwwlib.umi.com/cr/mo/fullcit?p9951122.

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Cheung, Mei-chi Dilys. "Noise-induced hearing loss : conservation and effects /." Hong Kong : University of Hong Kong, 1995. http://sunzi.lib.hku.hk/hkuto/record.jsp?B14709223.

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Mieskes, Katharina. "Molecular genetic analysis of canine congenital sensorineural deafness in Dalmatian dogs." [S.l.] : [s.n.], 2006. http://deposit.ddb.de/cgi-bin/dokserv?idn=980847508.

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Chamberlain, Charlene. "Do the deaf "see" better? : effects of deafness on visuospatial skills." Thesis, McGill University, 1994. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=22525.

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Deaf people who know and use American Sign Language, ASL, outperform normally hearing people on certain visuospatial tests. This enhanced visuospatial performance is interpreted as being the result of knowing and using a visual and spatial grammar. An alternative explanation is that this enhanced visuospatial performance is due to sensory compensation, that is, a heavy reliance on vision throughout development due to deafness. The present study tested this alternative explanation. Eight congenitally and profoundly deaf adults (4 women, 4 men) who did not know sign language and eight normally hearing controls (4 women, 4 men) were tested on four visuospatial tasks requiring mental rotation in two and three dimensions (Card Rotation, Paper Form Board, Space Relations and Spatial Visualization). Subjects were matched for age, sex, and education. Spatial solution strategy and handedness were also assessed. Results showed that both groups were significantly faster and more accurate on the two-dimensional tasks than on the three-dimensional tasks. Additionally, hearing women and deaf men were significantly faster than the deaf women over all tasks. The two groups used similar solution strategy for all tasks except Spatial Visualization, where more deaf subjects used a mental rotation strategy. These findings suggest that sensory compensation per se does not lead to enhanced visuospatial skill.

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Walsh, James Jarlath. "Positional cloning and characterisation of the mouse deafness gene shaker1 (sh1)." Thesis, Imperial College London, 1998. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.298873.

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Ford, Hayley. "Bilingualism, language development and psychological well-being : an example of deafness." Thesis, University of Warwick, 2011. http://wrap.warwick.ac.uk/49301/.

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Chapter One: The effects of bilingualism with two spoken languages on a child’s psychosocial development: A critical review. This paper critically reviews the literature to explore the effects of bilingualism with two spoken languages on a child’s psychosocial development. Researchers have primarily been concerned with the effects of bilingualism on intelligence (e.g., Darcy, 1963, as cited in Ricciardelli, 1992, p.301) and educational achievement (e.g., Tucker & d’Anglejan, 1971). More recently research has focused on the psychological impact of bilingualism on a child, and how their social, cultural, and familial relationships may be affected (e.g., Han & Huang, 2010). A search of papers identified 12 papers for review. The findings portrayed that societal, cultural, and familial factors are not only important with regard to language development, but are important for psychological well-being including relationships and behaviours (e.g., Han, 2010). Chapter Two: The experiences of bilingualism within the deaf and the hearing world: The views of d/Deaf young people Research into bilingualism and the learning potential offered by a second language are widely reported, with much of this evidence relating to both languages being spoken. However, further reviews have identified that learning a language in two different modalities, offers a much richer learning environment for children. Therefore, it is imperative to understand the language development of deaf children who access both a signed language and a spoken language. For this empirical paper, 7 deaf bilingual young people were interviewed to explore their views and experiences of bilingualism and deafness. The results were analysed using Interpretative Phenomenological Analysis. It highlighted the experiences for deaf young people of having a strong identity within the deaf and the hearing communities (e.g., Calderon, 2000). Chapter Three: Communication within the d/Deaf world: Reflections on the research and clinical process This paper reflects on my personal and professional learning throughout this research as a hearing person communicating with deaf people. Hearing people, with access, generally use spoken language to communicate. However, deaf people can communicate through spoken language, sign language, and lip-reading. Being aware of the many needs of deaf people has helped me to reflect on my experience of communication in the context of everyday life.

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45

Wang, Chao, and 王超. "Sign language and the moral government of deafness in antebellum America." Thesis, The University of Hong Kong (Pokfulam, Hong Kong), 2014. http://hdl.handle.net/10722/211119.

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Many Deaf people today consider themselves a linguistic minority with a culture distinct from the mainstream hearing society. This is in large part because they communicate through an independent language——American Sign Language (ASL). However, two hundreds years ago, sign language was a “common language” for communication between hearing and deaf people within the institutional framework of “manualism.” Manualism is a pedagogical system of sign language introduced mainly from France in order to buttress the campaign for deaf education in the early-19th-century America. In 1817, a hearing man Thomas Hopkins Gallaudet (1787-1851) and a deaf Frenchman Laurent Clerc (1785-1869) co-founded the first residential school for the deaf in Hartford, Connecticut. These early manualists shaped sign language within the evangelical framework of “moral government.” They believed that the divine origin of signs would lead the spiritual redemption of people who could not hear. Inside manual institutions, the religiously defined practice of signing, which claimed to transform the “heathen deaf” into being the “signing Christian,” enabled the process of assimilation into a shared “signing community.” The rapid expansion of manual institutions hence fostered a strong and separate deaf culture that continues to influence today’s deaf communities in the United States. However, social reformers in the mid-nineteenth century who advocated “oralism” perceived manualism as a threat to social integration. “Oralists” pursued a different model of deaf education in the 1860s, campaigning against sign language and hoping to replace it entirely with the skills in lip-reading and speech. The exploration of this tension leads to important questions: Were people who could not hear “(dis)abled” in the religious context of the early United States? In what ways did the manual institutions train students to become “able-bodied” citizens? How did this religiously framed pedagogy come to terms with the “hearing line” in the mid 19th century? In answering these questions, this dissertation analyzes the early history of manual education in relation to the formation and diffusion of religious governmentality, a topic that continues to influence deaf culture to this day.
published_or_final_version
Modern Languages and Cultures
Master
Master of Philosophy

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46

Griggs, Mary. "Deafness and mental health : perceptions of health within the deaf community." Thesis, University of Bristol, 1998. http://hdl.handle.net/1983/44dae0db-ab9f-4d7a-bc9d-db66bf33930e.

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Burke, Devin Michael. "BEETHOVEN DEAF: THE BEETHOVEN MYTH AND NINETEENTH-CENTURY CONSTRUCTIONS OF DEAFNESS." Case Western Reserve University School of Graduate Studies / OhioLINK, 2010. http://rave.ohiolink.edu/etdc/view?acc_num=case1270267092.

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Kitajiri, Shinichiro. "Radixin deficiency causes deafness associated with progressive degeneration of cochlear stereocilia." Kyoto University, 2005. http://hdl.handle.net/2433/144706.

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Glatt, Richard L. (Richard Lawrence) Carleton University Dissertation Psychology. "Hypnotic deafness and the compliance hypothesis: a blind real-simulator design." Ottawa, 1992.

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Friedman, Jill Nezu Nezu Arthur M. "Predictors of depressive symptoms in persons with deafness and hearing loss /." Philadelphia, Pa. : Drexel University, 2008. http://hdl.handle.net/1860/2970.

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Dissertations / Theses on the topic 'Deafness'

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