Submitted by Viviane Lima da Cunha (viviane@biblioteca.ufpb.br) on 2016-02-16T12:43:12Z No. of bitstreams: 1 arquivototal.pdf: 13238594 bytes, checksum: 276fb476c19b9bf5bb8160c24835f54d (MD5) / Made available in DSpace on 2016-02-16T12:43:12Z (GMT). No. of bitstreams: 1 arquivototal.pdf: 13238594 bytes, checksum: 276fb476c19b9bf5bb8160c24835f54d (MD5) Previous issue date: 2015-10-13 / People with hearing or visually impairment face many di culties to participate in the social life, to communicate with other people and to access information. Their participation in cinemas, theaters, educational environment, among others, is often limited due to the lack of solutions that enable their interaction and participation. For the deaf, for example, the accessibility resources normally provided at the cinema room is limited to subtitle text format. This is the predominant solution on the current scenario. However, on the other hand, there are some studies that are in progress to try to solve these problems, such as the use of second screen devices to project content with sign language. For the blind, the accessibility problem is further aggravated because currently there are few cinema rooms that o er the resources of audio description. Normally, the blind rely solely on the help of family or friends to narrate the events during the exhibition of the lm. The accessibility point of view, these approaches are considered ine cient, since the deaf, for example, have enough trouble reading and writing in the spoken language of their country. Therefore, to minimize these problems, this paper presents a computational solution capable of automatically generating from the subtitles, video tracks with Brazilan Sign Language (Libras) windows for deaf users, and from the movie script, produce audio description for blind users and distribute such content for users using the second screen devices. Experiments using a prototype showed that the solution has the potential to generate e ciently contents intelligible for this users, increasing your access to this technology type. / Pessoas com de ciência auditiva ou visual enfrentam diversos entraves para participar da vida em sociedade, para se comunicar com outras pessoas e ter acesso à informação. A participação dessas pessoas em ambientes como cinemas, teatros, escolas, enquanto navegam na Internet, entre outros, é muitas vezes limitada devido a ausência de soluções acessíveis que viabilizem sua participação e interação. Para os surdos, por exemplo, os recursos de acessibilidade normalmente oferecidos nas salas de cinema se limitam a legendas no formato texto. Esta é a solução predominante no cenário atual. Porém, em contrapartida, existem algumas pesquisas que encontram-se em desenvolvimento para tentar resolver esses problemas, como a utilização de dispositivos de segunda tela para projetar os conteúdos com Língua de Sinais. Para os cegos, o problema de acessibilidade é ainda mais agravante, pois, atualmente, existem poucas salas de cinema que disponibilizam os recursos da Audiodescrição. Normalmente, os cegos contam apenas com a ajuda de familiares ou amigos para narrar os acontecimentos durante a exibição do filme. Do ponto de vista da acessibilidade, essas abordagens são consideradas inefi cientes, uma vez que os surdos, por exemplo, têm bastante dificuldade de ler e escrever na língua oral do seu país. Portanto, para minimizar esses problemas, este trabalho apresenta uma solução computacional capaz de gerar automaticamente a partir das legendas, trilhas de vídeo com janelas de Libras para usuários surdos, e a partir do roteiro do fi lme, gerar Audiodescrição para usuários cegos e distribuir esses conteúdos para usuários usando dispositivos de segunda tela. Experimentos com um protótipo mostraram que a solução tem potencial para gerar de forma e ciente conteúdos inteligíveis para esses usuários, melhorando o seu acesso a esse tipo de tecnologia.

A perda auditiva é o defeito mais comum ao nascimento e cerca de 70 milhões de pessoas no mundo apresentam algum grau de perda auditiva. Além da alta incidência, as implicações da perda auditiva na linguagem, na cognição e no desenvolvimento emocional e social reforçam sua importância. No entanto, em grande parte dos pacientes, a causa da deficiência auditiva não é esclarecida. Nós usamos hibridação comparativa do genoma baseada em arrays (Array Comparative Genomic Hybridization aCGH) para investigar alterações no número de cópias de segmentos de DNA (Copy Number Variation CNV) em 31 indivíduos que apresentavam deficiência auditiva e sinais clínicos adicionais, mas que não puderam ser classificados em síndrome conhecida. A escolha de indivíduos sindrômicos se baseou no pressuposto de que, em média, apresentam alterações genômicas maiores e, portanto, mais provavelmente detectáveis com o uso de aCGH de 1 Mb, que era a plataforma disponível no início do projeto. CNVs não descrita em bancos de dados de indivíduos normais foram identificadas em oito pacientes, quatro delas ocorreram de novo enquanto as outras quatro foram herdadas de um genitor fenotipicamente normal. As alterações de novo definem segmentos cromossômicos que provavelmente contém genes relacionados à deficiência auditiva e sensíveis a dose, especificamente: 1q23.3-q25.2, 2q22q23, 6p25.3 e 11q13.2-q13.4. As alterações raras identificadas tanto nos pacientes quanto em um genitor normal poderiam ser um evento ao acaso, sem papel na deficiência auditiva; no entanto, a possibilidade de que essas alterações possam funcionar como fatores de predisposição não podem ser descartadas. Se considerarmos apenas as CNVs de novo como causativas dos fenótipos investigados, detectamos quatro pacientes portadores entre os 31 investigados (13%). Se considerarmos também as CNVs herdadas como possivelmente causativas, a taxa de desequilíbrios cromossômicos associados à surdez será de 26%. Esses resultados são provavelmente uma substimativa e esses números seriam possivelmente maiores com o uso de uma das plataformas de alta resolução disponíveis atualmente. Esses resultados, embora limitados, indicam que investigação por aCGH em pacientes com surdez sindrômica idiopática está entre os testes mais eficientes para detectar etiologia dos fenótipos, devendo ser incorporado à rotina no diagnóstico e aconselhamento genético. / Hearing loss is the most common congenital deficiency and about 70 million people worldwide present some degree of hearing impairment. In addition to its high incidence, hearing loss impacts language, cognition and social and emotional development. However, in a large proportion of patients, the cause of the hearing deficiency cannot be elucidated. We screened copy number changes by 1 Mb-array Comparative Genomic Hybridization (aCGH) in 31 individuals with syndromic hearing impairment whose clinical features were untypical for known disorders. The choice of evaluating syndromic rather than non-syndromic individuals was based on the assumption that they are more likely to carry larger genomic alterations which could be more easily detected by the comparatively low resolution 1 Mb aCCG, which was the available platform when this project started. Copy number changes (CNV) not documented in the database of normal individuals were detected in eight patients, four de novo imbalances and four inherited from a normal parent. The de novo alterations define candidate chromosome segments likely to harbor dosage sensitive genes related to hearing impairment, namely 1q23.3-q25.2, 2q22q23, 6p25.3 and 11q13.2- q13.4. The rare imbalances also present in normal parents might be casually associated with hearing impairment, but also have a possible role as a predisposition factor. When only the de novo CNVs were considered causative for the disease phenotypes, our study revealed relevant copy number changes in 4 patients (13%). If we also count the rare CNVs that had been inherited as possibly causative, the frequency of chromosome imbalances associated with syndromic deafness in our sample becomes 26%. These figures are probably underestimates and will probably become larger when high resolution oligoarray platforms are applied. These results indicate that aCGH is an efficient tool for defining the etiology of syndromic deafness and its use in routine diagnosis of hearing impairment and for genetic counseling is highly recommended.

Introdução: A atresia aural congênita refere-se a um espectro de deformidades da orelha presentes ao nascimento que envolve algum grau de falha no desenvolvimento do canal auditivo externo, e, muitas vezes, da membrana timpânica e dos ossículos da orelha média. Uma das consequências da atresia aural congênita é a perda auditiva condutiva que deve ser tratada precocemente a fim de evitar complicações. O uso do Vibrant soundbridge no tratamento da perda auditiva tem propiciado a melhora da audição destes pacientes em serviços de todo o mundo. Objetivo: Sistematizar e descrever a técnica cirúrgica do Vibrant soundbridge em pacientes com atresia aural congênita bilateral e descrever os resultados das avaliações audiológicas após a realização da cirurgia. Método: Doze pacientes com atresia aural congênita bilateral realizaram a cirurgia do Vibrant soundbridge e foram submetidos às avaliações audiológicas em dois momentos: antes e após seis meses da realização da cirurgia. As avaliações realizadas foram: audiometria tonal limiar, audiometria em campo livre, reconhecimento auditivo de palavras no silêncio (lista de monossílabos) e limiar de reconhecimento de sentença, e relação sinal/ruído (HINT - Brasil). Foi feita a análise dos dados por meio das estatísticas descritivas e inferenciais. Resultados: O protocolo cirúrgico utilizado para implantação do dispositivo Vibrant soundbridge em pacientes com atresia aural congênita bilateral foi descrito. Não ocorreram complicações intra ou pós-operatórias. Os limiares auditivos em campo livre melhoraram de 53,5 dB para 27,2 dB após seis meses de uso do Vibrant soundbridge (p < 0,001). O reconhecimento auditivo de palavras monossílabas melhorou significantemente após a cirurgia (de 61,0% para 91,3%). No HINT, também foi encontrada melhora estatisticamente significante (p < 0,001) do limiar de reconhecimento de sentenças que passou de 67,1dB para 45,9 dB e a média da relação sinal/ruído (S/R) melhorou de 5,6 dB para 1,4 dB (p=0,009). Conclusões: Sistematizar a técnica cirúrgica do Vibrant soundbridge em pacientes com atresia aural congênita bilateral permitiu a realização de uma cirurgia segura, sem complicações pós-operatórias, resultando na obtenção de resultados audiológicos positivos nesta população / Introduction: Congenital aural atresia refers to a spectrum of ear deformities present at birth that involve some degree of failure in the development of the external auditory canal, and often the tympanic membrane and middle ear ossicles as well. One of the consequences of congenital aural atresia is conductive hearing loss that must be treated early to avoid complications. The use of Vibrant soundbridge(TM) for treating hearing loss has improved the hearing of these patients in practices worldwide. Objective: To systematize and describe the surgical technique for implanting the Vibrant soundbridge(TM) in patients with bilateral congenital aural atresia and to describe the results of postoperative audiological evaluations. Method: Twelve patients with bilateral congenital aural atresia underwent Vibrant soundbridge(TM) implantation surgery and audiological evaluations at two instances: before and 6 months after surgery. The evaluations included threshold tonal audiometry, free field audiometry, auditory word recognition in silence (list of monosyllables), sentence recognition threshold, and signal to noise ratio (HINT - Brazil). Data were analyzed through descriptive and inferential statistical methods. Results: The surgical protocol used for implantation of the Vibrant soundbridge(TM) device in patients with bilateral congenital aural atresia was described. There were no intraoperative or postoperative complications. The free-field auditory thresholds improved from 53.5 dB to 27.2 dB after 6 months of Vibrant soundbridge(TM) use (p < 0.001). The auditory recognition of monosyllable words improved significantly after surgery (from 61.0% to 91.3%). In HINT, we also found a statistically significant improvement (p < 0.001) in the sentence recommencement threshold from 67.1 dB to 45.9 dB and the mean S/R ratio improved from 5.6 dB to 1.4 dB (p = 0.009). Conclusions: Systematization of the Vibrant soundbridge(TM) surgical technique in patients with bilateral congenital aural atresia allowed safe surgery without postoperative complications and resulted in positive audiological results in the test population

O objetivo deste trabalho é empreender uma análise de um campo discursivo das práticas que conferem à surdez o estatuto de particularidade linguística e cultural. Para tanto, foi realizada pesquisa etnográfica em espaços caracterizados pela presença de sistemas de comunicação gestuais-visuais normatizados sob a forma da Língua Brasileira de Sinais (LIBRAS). Atentou-se também a aspectos históricos relativos à surdez e a formas disciplinares constitutivas da LIBRAS. Acompanhar o percurso de líderes surdos em espaços variados foi fundamental para revelar uma normatividade na qual a surdez é afirmada e performatizada em termos de língua e cultura. Ao mesmo tempo são constituídas tensões, disputas e lutas em torno dessa normatividade. Categorias identitárias, tais como cultura surda e comunidade surda, são constantemente mobilizadas por profissionais que atuam em defesa da libras e são referidas sobretudo a sujeitos classificados como surdos . Constatou-se, enfim, que líderes surdos ocupam posição de destaque ao atuarem como porta-vozes da coletividade linguística falante de libras. / The objective of this work is to analyze a discursive field of practices that grants deafness a status of linguistic and cultural particularity. For this purpose, ethnographic research was conducted in spaces characterized by the presence of gestural-visual communication systems normalized in the form of the Brazilian Sign Language (LIBRAS). Research on historical aspects regarding deafness and integral disciplinary forms of LIBRAS was also undertaken. Following the course of deaf leaders in varied spaces was crucial in revealing a normativity in which deafness is affirmed and performed in terms of language and culture. At the same time, tensions, disputes and struggles are formed around this normativity. Identifying categories, such as deaf culture and deaf community, are constantly mobilized by professionals that act in defense of LIBRAS and are referenced primarily in terms of subjects classified as deaf. Ultimately, it was determined that deaf leaders occupy a prominent position in acting as spokespeople for the linguistic collective of LIBRAS speakers.

Abstract This work was aimed at studying speech perception and auditory performance in the everyday lives of Finnish-speaking postlingually severely or profoundly hearing-impaired adults before and after receiving a multichannel cochlear implant. The association between the formal speech perception results and auditory performance in everyday life was also determined, and an effort was made to define how well a smaller sample represents the nationwide results. The patient series comprised a nationwide retrospective survey (N = 67), in which data on hearing level and word recognition were requested from the hospitals, and a prospective sample from the city of Oulu (N = 20), in whom hearing level, sentence, word and phoneme recognition and phoneme confusions were examined using standardised audiometric measures and formal speech perception tests in a study with a prospective repeated measure design. Categories of auditory performance in everyday life were assessed in both samples. The median sound field hearing level at frequencies of 0.5, 1, 2 and 4 kHz for the subjects in the nationwide survey one year after the switch-on of the implant was comparable to the level of mild hearing impairment. All the subjects achieved at least some open-set word recognition auditorily only (mean 71%, 95% CI 61-81%). The results in the Oulu sample were in line with the nationwide survey. A majority of the subjects (31/40) was able to understand conversation without speechreading one year after switch-on. Sentence recognition by the subjects in the Oulu sample improved most during the initial six months after the switch-on of the implant, whereas word and phoneme recognition improved steadily during the two-year follow-up period. Estimated average sentence recognition after two years was 89% (95% CI 71 to 106%), word recognition 73% (95% CI 58 to 87%), syllable recognition 53% (95% CI 42 to 63%), vowel recognition 80% (95% CI 68 to 92%) and consonant recognition 67% (95% CI 57 to 76%). Confusion of phonemes took place more in the direction a spectral energy distribution at higher frequencies. The association between auditory performance in everyday life and the formal speech perception tests was high (rs > 0.81, p &lt; 0.0001). Systematic prospective assessment of speech perception with tests of differing difficulty is recommended for the follow-up of adult cochlear implant users. / Tiivistelmä Tämän työn tarkoituksena oli tutkia suomenkielisten, kielen oppimisen jälkeen vaikean tai erittäin vaikean kuulovian saaneiden aikuisten kuulon tasoa, puheen vastaanottoa ja kuulon toiminnallista tasoa monikanavaisen sisäkorvaistutteen avulla. Tutkimuksessa selvitettiin myös, miten puheen vastaanottoa mittaavat testit kuvaavat selviytymistä arkipäivän elämässä sisäkorvaistutteen mahdollistaman kuulon avulla. Tarkoituksena oli myös määrittää, millä tavalla pieni otos edustaa kansallisia tuloksia. Tutkimuksessa on retrospektiivinen kansallinen otos (N=67) ja prospektiivinen Oulun otos (N=20). Kansallisessa otoksessa tiedot kuulon tasosta ja sanojen tunnistuskyvystä kerättiin yliopistosairaaloista koehenkilöiden sairauskertomuksista. Oulun otoksessa kuulon tasoa, sekä lauseiden, sanojen ja äänteiden tunnistuskykyä ja äänteiden sekoittuvuuksia tutkittiin audiometrian ja puheenvastaanottoa mittaavien testien avulla kahden vuoden seurannan aikana. Kuulon toiminnallista tasoa arvioitiin kuulon toiminnallisen tason luokituksella molemmissa otoksissa. Kansallisen otoksen koehenkilöiden kuulokynnysten mediaani äänikentässä sisäkorvaistutteella taajuuksilla 0,5, 1, 2 ja 4 kHz oli verrattavissa lievän kuulovian tasoon vuosi sisäkorvaistutteen käyttöönoton jälkeen. Kaikki koehenkilöt kykenivät tunnistamaan vähintään joitain sanoja pelkästään kuulonvaraisesti (keskiarvo 71 %, 95 %:n luottamusväli 61-81 %). Oulun otoksen ja kansallisen otoksen tulokset olivat yhteneväiset. Vuosi sisäkorvaistutteen käyttöönoton jälkeen suurin osa (31/40) koehenkilöistä pystyi keskustelemaan ilman huulioluvun tukea hiljaisessa ympäristössä. Oulun otoksen koehenkilöiden lauseiden tunnistuskyky parani eniten ensimmäisten kuuden kuukauden aikana. Sanojen ja äänteiden tunnistuskyky parani koko kahden vuoden seurannan ajan. Kaksi vuotta sisäkorvaistutteen käyttöönoton jälkeen, estimoitu keskimääräinen lauseiden tunnistusprosentti oli 89 % (95 %:n luottamusväli 71-106 %), sanojen tunnistusprosentti oli 73 % (95 %:n luottamusväli 58-87 %), tavujen tunnistusprosentti oli 53 % (95 %:n luottamusväli 42-63 %), vokaalien tunnistusprosentti oli 80 % (95 %:n luottamusväli 68-92 %) ja konsonanttien tunnistusprosentti oli 67 % (95 %:n luottamusväli 57-76 %). Koehenkilöt sekoittivat vokaaleja ja konsonantteja useimmiten spektraaliselta energialtaan läheisimpään suuremmille taajuuksille sijoittuvaan äänteeseen. Kuulon toiminnallisen tason luokituksen ja puheen vastaanottoa mittaavien testien välinen korrelaatio oli korkea (rs > 0.81, p &lt; 0.0001). Sisäkorvaistutteen saavien aikuisten kuulon tason ja puheen vastaanottokyvyn systemaattinen seuranta vaikeudeltaan eritasoisten testien avulla on tärkeää monipuolisen kuntoutuksen suunnittelun tueksi.

Abstract Meniere’s disease (MD) is an inner ear disorder characterized by vertigo, tinnitus and sensorineural hearing impairment. An inherited form of the disease is called familial Meniere’s disease (FMD). The aim of this thesis was to describe the clinical and genetic features of Finnish FMD and to study its prevalence in Finland. In addition genetic factors previously associated with MD were studied in Finnish MD patients. A total of 38 Meniere-families were analysed in this study. In most of the families the mode of inheritance was found to be autosomal dominant. Meniere-like symptoms such as tinnitus or vertigo were common in these families even in individuals without a full triad of MD. Familial patients were affected earlier, suffered from longer spells of vertigo and had more autoimmune diseases compared to sporadic MD patients. The prevalence of FMD was studied among the patients treated in the Oulu University Hospital and Kainuu Central Hospital during the years 2005-2010. A family history of MD was probable in 23.4% of the cases, but only 9.3% could be confirmed, as it was not possible to gain information from deceased generations. Six candidate genes previously associated with MD were screened for mutations in Finnish MD patients. Two possibly adverse variations were observed in the KCNE1 gene in two patients but in none of the controls. The role of these variations in MD is still unclear and needs further study. The association of MD to the five other genes could not be confirmed, nor was Finnish FMD linked to a previously suggested locus on chromosome 12. / Tiivistelmä Menieren tauti on sisäkorvan sairaus, jolle on tyypillistä huimaus, korvien soiminen ja kuulon heikkeneminen. Tauti voi esiintyä myös perinnöllisenä. Tutkimustyön tavoitteena oli selvittää perinnöllisyyden osuutta Menieren taudissa, kuvata suomalaisen perinnöllisen Menieren taudin tyypilliset piirteet ja tutkia suomalaisessa aineistossa aikaisemmin tautiin yhdistettyjä perinnöllisiä tekijöitä. Tutkimuksessa analysoitiin 38 sukua, joissa Menieren tautia esiintyi perinnöllisenä. Suurimmassa osassa tapauksista periytyminen tapahtui vallitsevasti. Suvuissa esiintyi paljon Meniere-tyypistä oirehdintaa, kuten tinnitusta ja huimausta, ilman Menieren taudin koko taudinkuvaa. Meniere-suvuissa potilaat sairastuivat keskimääräistä aikaisemmin, kärsivät pidemmistä huimauskohtauksista ja sairastivat enemmän autoimmuunitauteja. Perinnöllisen Menieren taudin yleisyyttä tutkittiin Kainuun keskussairaalassa ja Oulun yliopistollisessa sairaalassa vuosina 2005−2010 hoidettujen potilaiden keskuudessa. Potilaista 23,4&#160;%:lla Menieren taudin sukuhistoria oli positiivinen; kuitenkin vain 9,3&#160;% pystyttiin vahvistamaan, sillä tietojen kerääminen edesmenneiltä sukupolvilta ei ollut mahdollista. Kuuden Menieren tautiin aikaisemmin yhdistetyn geenin merkitystä tutkittiin suomalaisessa aineistossa mutaatio- ja ehdokasgeenianalyysillä. KCNE1-geenistä löydettiin kaksi mahdollisesti proteiinia vaurioittavaa sekvenssinvaihtelua, joita ei havaittu kontrollihenkilöillä. Muutosten merkitys Menieren taudin synnyssä jäi kuitenkin epävarmaksi ja vaatii jatkotutkimuksia. Muiden geenien yhteyttä sairauteen ei pystytty vahvistamaan. Suomalainen Menieren tauti ei myöskään kytkeytynyt aikaisemmin ehdotettuun lokukseen kromosomissa 12.

Abstract This research on military aviation noise was conducted because the personnel working with military aircraft were concerned about noise induced hearing damage. In addition, comprehensive data on hearing impairments and occupational exposure of military pilots in the Finnish Air Force was not available. Moreover, data on the effects of overflight noise of military jets was necessary for the evaluation of noise induced hearing deteriorations of members of the public who might be exposured accidentally for the low-level jets' overflights. The averaged noise exposure levels of pilots varied during a flight from 97 dB(A) to 106 dB(A) in the cockpit and from 83 dB(A) to 100 dB(A) at the entrance of the ear canal. Radio noise was 4–10 dB higher than background noise inside the helmet. The attenuation provided by air crew helmets varied from10 to 21 dB(A) in the laboratory, and was at the same level during real flights. The attenuation measured in the laboratory and in working conditions was about 30 dB(A) for earmuffs. An active noise cancellation (ANC) device decreased averaged noise exposure (LAeq8min) 4–8 dB over the noise attenuation of the same helmets when the ANC system was off. The noise of overflights by military jets were measured and the noise levels were lower than those known to cause the permanent threshold shifts. However, noise induced hearing damages might be possible in certain conditions. In order to assess the hearing loss risk of pilots, hearing thresholds were measured before and after one flight using both conventional and extended high frequency (EHF) audiometry. Minor temporary threshold shifts (TTS) were revealed. The risk of noise-induced damage at the studied exposure levels is, in all probability, rather small. A novel NoiseScan data management system proved to be an interesting tool in assessment of the risk of developing hearing impairment on the basis of known risk factors. Due to the small number of risk factors, the hearing of pilots was shown to be at considerably less risk than that of industrial workers in Finland.

This thesis deals with the acceptance and development of a child with hearing impairment in a hearing family. The first chapter of the theoretical part deals with hearing impairment and the basic terminology of the discipline. The second chapter deals with the possibilities of compensation and rehabilitation of hearing. The third chapter represents the communication of hearing impaired children and different communication systems. The penultimate chapter is devoted to the development and education of children with hearing impairment. The final chapter of the theoretical part represents the system of educational care for children with hearing impairment in the Czech Republic. The practical part of the thesis deals with the experiences of parents raising a child with hearing impairment. The main objective of the research is to find out how the acceptance and development of a hearing impaired child in a hearing family. According to the character of the research, qualitative research method was used. The results of the work should facilitate the understanding of parents in a situation where it is their task to raise a child with hearing impairment.

This thesis is focused on young people with hearing impairment who are educated by oral auditory method at school for pupils with special educative needs, particularly at School for the Hearing Impaired. The theoretical part is especially oriented on the characteristics and specifics of the developmental period of adolescence which is a very important milestone at the transition from childhood to maturity. It is focused on the hearing impairment issue and it also observes the psychological aspects of the people with hearing impairment. Furthermore, it deals with communication competencies of people with hearing impairment with focusing on spoken words and speech therapy intervention. The aim of the scientific examination of this thesis is to bring closer and mediate the opinions and experience of the young people with hearing impairment who are educated by oral - auditory method on their own communication skills and abilities. In this part of work the students themselves express their communication competencies. This work contains authentic parts of testimonies and brings some interesting insights of students themselves. This is a little probe into the lives of the young people with hearing impairment through their experience.

Abstract The purpose of this study was to determine the prevalence and aetiology of childhood hearing impairment (HI) in northern Finland and to evaluate the presence of additional disabilities among hearing impaired children. Such data would be valuable in guiding examinations and rehabilitation. Study I consisted of 214 children with mild to profound HI ascertained prior to age 10 years. They belonged to the birth cohort spanning the years 1993–2002. The clinical data were collected from the patient records of the Oulu University Hospital. In studies II–III, mutations in mitochondrial DNA (mtDNA) and in the WFS1 gene were determined in children with unknown aetiology of HI. Study IV is a prospective follow-up study examining the hearing of children with m.1555A>G mutation in mtDNA. The prevalence of childhood HI was 2.3/1000 live births. Genetic causes were the most common (47%) aetiology of HI, while 16% of cases were acquired and 36% were unknown. Almost 40% of 214 children had one or more additional disabilities that adversely influenced their development or learning. The frequency of additional disabilities was not associated with the severity of HI. Children with acquired HI had additional disabilities more often (66%) than children with genetic or unknown aetiology of HI (44%). Molecular analysis revealed that mutations in mtDNA and WFS1 are rare causes of childhood HI. Three rare variants and the novel p.Gly831Ser variant were found in WFS1. The p.Gly831Ser variant may be a new member to the group of heterozygous WFS1 mutations that lead to HI. One child harboured the pathogenic m.1555A>G mutation in MT-RNR1. In addition, eight rare variants and 13 polymorphisms were found in MT-RNR1 or in MT-RNR2. Evaluation of m.990T>C suggested that this transition is a pathogenic rather than a neutral variant. During a 7.8 year follow up of 19 children with m.1555A>G, HI was ascertained in 10 children (age range, 2.1–13.2 years at the end of the follow-up). Distinct phenotypes of HI were identified. Environmental factors contributing to the phenotype variation were not recognized. Because these children generally pass the newborn hearing screening, it is important to follow over time the hearing of children in families with the m.1555A>G mutation. / Tiivistelmä Tämän työn tavoitteena oli tutkia lapsuusiän kuulovikojen esiintyvyyttä ja etiologiaa pohjoissuomalaisilla lapsilla sekä selvittää kuulovikaisilla lapsilla esiintyviä muita oireita. Tieto kuulovian etiologiasta ja mahdollisista muista oireista auttaa tutkimusten ja kuntoutuksen suunnittelussa. Tutkimukseen osallistuvat lapset olivat syntyneet Pohjois-Suomessa vuosina 1993–2002. Osatyössä I kerättiin sairauskertomustiedot niistä lapsista, joiden kuulovika oli todettu ennen kymmenen vuoden ikää. Osatöissä II ja III määritettiin mitokondrion DNA:n ja tuman WFS1-geenin muutoksia lapsilla, joiden kuulovian etiologia oli tuntematon. Osatyössä IV seurattiin lasten kuuloa suvussa, jossa on todettu mitokondrion DNA:n mutaatio m.1555A>G. Lapsuusiän kuulovikojen esiintyvyys oli 2,3 tuhatta vastasyntynyttä kohden. Kuulovian yleisin syy oli perinnöllinen (47 %). Hankinnaisia kuulovikoja oli 16 % ja etiologialtaan tuntemattomia 36 %. Lähes 40 %:lla 214 lapsesta oli kuulovian lisäksi yksi tai useampi muu oire, jonka arvioitiin vaikuttaneen haitallisesti lapsen kehitykseen tai oppimiseen. Muiden oireiden esiintyminen ei riippunut kuulovian vaikeusasteesta. Hankinnaiseksi luokiteltuihin kuulovikoihin liittyi enemmän muita oireita (66 %) kuin niihin kuulovikoihin, joiden syy oli perinnöllinen tai tuntematon (44 %). Pohjoissuomalaisilla lapsilla mitokondrion DNA:n ja WFS1-geenin muutokset olivat harvinaisia kuulovian syitä. WFS1-geenissä todettiin kolme aikaisemmin tunnettua harvinaista ja yksi uusi geenimuutos. Tämän p.Gly831Ser-mutaation arvioitiin olevan heterotsygoottisena kuulovikaa aiheuttava muutos. Yhdellä lapsella todettiin mitokondrion DNA:n patogeeninen mutaatio m.1555A>G. Lisäksi MT-RNR1- ja MT-RNR2-geeneissä todettiin 13 polymorfiaa, jotka kuuluvat normaaliin vaihteluun ja kahdeksan harvinaista muutosta, joista m.990T>C-muutos on todennäköisesti kuulovikaa aiheuttava. Seurantatutkimukseen osallistui 19 lasta, joilla oli m.1555A>G-mutaatio. Seuranta kesti 7,8 vuotta, ja sen aikana ilmaantui kuulovika 10 lapselle, joiden ikä tutkimuksen loppuessa oli 2,1–13,2 vuotta. Todetut kuuloviat olivat keskenään erilaisia. Vaihtelua selittäviä ympäristötekijöitä ei todettu. Lasten kuuloa on tärkeää seurata perheissä, joissa on m.1555A>G-mutaatio, koska lapset yleensä läpäisevät vastasyntyneen kuulonseulontatutkimuksen ja mahdollinen kuulovika kehittyy myöhemmin.