Made available in DSpace on 2016-06-02T19:46:23Z (GMT). No. of bitstreams: 1 5036.pdf: 14531886 bytes, checksum: e76b181fa8c752c0560ff43476c9b79c (MD5) Previous issue date: 2013-02-25 / The objective of this work was to analyze the efficiency of visual adaptations in activities presented in the student with deafblindness with Usher syndrome and its impact on education. This research was developed in the city of Santa Catarina in a Basic Inclusive School where deaf education policy is performed in Elementary School in the first to ninth-grade and in High school. This is a case study for 12 year old preteen with deafblindness with Usher syndrome who studies in an Association of sensorineural deafness and acquired blindness as a result of Retinitis Pigmentosa. In the year 201, the student attended the 5th grade, in bilingual mode (only for deaf). In 6th grade (2012) in mixed class (with listeners). In the bilingual class the teacher, teaches in sign language as first language and the Portuguese, as second one. Already in the inclusive class the language used is Portuguese with the presence of an educational interpreter. It was used visual resources in the accessible instructional materials for the contents of the subjects. The bilingual students took advantage by the materials. Data collection consisted of the interview with the family, with the student, and the teacher. Also pre and post student s intervention with the application of functional vision instrument. Observations were conducted in different situations and in different spaces. The obtained results were analyzed qualitatively taking as a criterion the student s own performance analysis. The student makes use of sign language easily. He presented the first symptoms of Usher syndrome: dazzing in some situations which implied difficulty to adapt to bright; decreased peripheral vision and night blindness. In the process of perception of the difficulties he doesn t see as deafblind but like a deaf. During the collection of data it was observed signs of decrease in the peripheral vision, in the locomotion, and in the sign language when the colleague uses it in his side. The results suggest that the materials used in the classroom were mainly appropriate for the amplified material with 12 points to 20 or 20 points letters as gradual exposure in different sizes. The Times New Roman font was modified to the Arial font one and after to Verdana because the changes provided more suitable traits. The results indicate, therefore, that the accessible visual resources were used properly. However, there is no support of optical and non-optical resources by the institution on this new reality: the presence of the student with Usher syndrome, in the classroom, and his constitutional right is guaranteed. / O objetivo desse trabalho foi analisar a eficiência das adaptações visuais nas atividades apresentadas para o aluno com surdocegueira por Síndrome de Usher e seu impacto na escolarização. Essa pesquisa foi desenvolvida em uma cidade de Santa Catarina em uma Escola Básica Inclusiva onde a Política de Educação de Surdos, é executada no Ensino Fundamental da primeira a nona série e no Ensino Médio. Trata-se de um estudo de caso de um pré-adolescente 12 anos, com surdocegueira por Síndrome de Usher, que é uma associação de surdez neurossensorial e cegueira adquirida como consequência da Retinose Pigmentar. No ano de 2011 frequentou a 5ª série, na modalidade bilingue (somente surdos) e na 6ª série (2012) em turma mista (surdos e ouvintes). Na classe bilingue a professora, ministra as disciplinas em Língua de Sinais como primeira língua e o Português, como segunda. Já na classe mista a língua de instrução é o Português com a presença de um intérprete educacional. Utilizou-se de recursos visuais acessíveis nos materiais instrucionais nos conteúdos das disciplinas e aproveitados por todos os alunos da turma bilíngue. A coleta de dados constou de entrevista com a família, com o aluno e a professora, avaliação pré e pós - intervenção do participante com a aplicação do instrumento de Avaliação Funcional da Visão. Realizaram-se observações em diversas situações e em diferentes espaços. Os dados obtidos foram analisados qualitativamente tomando como critério para a análise o desempenho do próprio participante. Faz uso da Língua de Sinais com desenvoltura. Apresenta os primeiros sintomas da Síndrome de Usher: deslumbramento em algumas situações o que implica na dificuldade para adaptar-se à luz brilhante; diminuição da visão periférica e cegueira noturna. No processo de percepção das suas dificuldades não se vê como surdocego e sim como surdo. Durante a coleta de dados foi observado indícios de diminuição na visão periférica na locomoção e na leitura de Libras quando o colega usa língua de sinais ao seu lado. Os resultados sugerem que os materiais utilizados em sala de aula foram adequados principalmente na ampliação do material impresso com letras de 12 pontos para 20 ou 22 pontos, conforme exposição gradual a diferentes tamanhos. A fonte Times New Roman foi modificada para a fonte Arial e, posteriormente, para Verdana porque as mudanças proporcionaram traços mais adequados. Os resultados indicam, portanto, que os recursos visuais acessíveis foram utilizados adequadamente. Entretanto, não existe um apoio de recursos ópticos e não ópticos pela Instituição diante dessa nova realidade: a presença do aluno com Síndrome de Usher, na sala de aula, para que o seu direito constitucional seja exercido.

This thesis addresses young adults with Alström syndrome (AS). AS causes acquired deafblindness, a severe, progressive, combined auditory and visual impairment affecting daily life and self-reliance to a degree that full participation depends on help from others and society. AS is an autosomal, recessively inherited single-gene disorder that affects the ALMS1 gene. AS has a multi-systemic pathology including a high incidence of additional multiple endocrine abnormalities, cardiomyopathy, pulmonary fibrosis, restrictive lung disease and progressive hepatic and renal failure leading to reduced life expectancy. The focus in the present thesis is on the development of Theory-of-mind (ToM) and on how ToM relates to the development of certain cognitive skills and the characteristics of the individual social network. ToM refers to the ability to understand the thoughts and feelings of others. The results reveal that individuals with AS displayed a significantly higher degree of heterogeneity in the performance of ToM tasks, and some individuals with AS performed on an equal level with nondisabled individuals. ToM performance was predicted by verbal ability and executive functioning (EF), whereas working memory capacity (WM) proved to be an indirect predictor. Later onset of visual loss further characterized AS individuals with better ToM. The sizes of the social networks of individuals with AS were smaller relative to those of nondisabled individuals, and many of the acquaintances were professionals working with individuals with AS. The number of friends correlated with ToM performance. Methods to improve verbal ability and EF, and interventions to enhance social participation in childhood of individuals with AS might prove to be fruitful. In addition assistive technology to establish and maintain friendships in adulthood is required.

This thesis deals with deafblind people and their lives. The work investigates how the system of care for these people works in the Czech Republic and how the clients themselves are satisfied with this care. The introductory theoretical part provides basic information about dual sensory impairment, it explains the concept of "deafblindness", describes its classification, etiology and diagnosis. Attention is also given to several fundamental pillars of care of people with deafblindness, such as communication, education, social services, career success, socialization, aids, etc. Second part of this thesis consists of research that has been done using questionnaires with aim to determine how the care of the deafblind is implemented in the Czech Republic and how it is evaluated by particular clients. Survey results have provided personal reference of deafblind individuals about services, organizations and aids, about their frequency and availability. Keywords Dual sensory impairment, deafblindness, sheltered housing, communication systems, organization, people with visual and hearing impairments, aids, employment, social welfare, education.

The present thesis concerns people with Usher syndrome (USH) and their health. People with USH have a congenital hearing loss of various degrees and an eye disease with a progressive course; for some, the balance is also affected. Three clinical groups have been identified 1, 2 and 3, and 13 genes have currently been identified. USH is the most common cause of deafblindness. Clinical knowledge and the limited research that exists have shown that people with deafblindness can experience difficulties in everyday life. Depression, anxiety and social withdrawal have been described. The general aim of the present thesis was to describe the health of people with USH. The empirical material employed was based on an extensive survey in which people with USH answered two questionnaires concerning health, anxiety, depression, social trust, work, health-care, financial situation, and alcohol and drug use. The focus of the present thesis is on general health, physical health and psychological health, social trust and finance. Three studies in the present theses focus on USH1, 2 and 3, respectively; finally, the fourth study provides an in-group comparison of people with USH. The results of studies I and III are compared with a crosssection of the Swedish population. The results revealed poor physical and psychological health, a lack of social trust and a strained financial situation regardless of clinical diagnosis. The discussion stresses the importance of taking a biopsychosocial approach when describing the health of people with USH, in which previous research is lacking. Additional research should focus on the mechanisms at different levels that affect people with USH and their health from a life- course perspective. Furthermore, research should include a salutogenic perspective to explore the resources and strengths of people with USH.

Deafblindness is a combined impairment of vision and hearing with an incidence of about 1: 8000 children and 1: 5500 adults. The most common genetic causes are the Stickler (STL) and Usher (USH) syndromes. The main goal of this work is to provide an up-to-date overview of STL and USH in the Czech and Slovak Republic (CR and SR), to determine the correlations between the genotype and phenotype in our population and the associated diagnostic criteria. Using sequencing and MLPA we examined 45 patients from 28 families for suspected STL. We found potentially causal variants of STL genes in 39 patients from 22 families. Fifteen different COL2A1 variants (8 being novel) were found in 28 patients from 18 families and 4 novel COL11A1 variants were found in 11 patients from 4 families. We identified the cause of the disease in 79 % of the families. The USH study involved 30 patients from 27 families. The most frequent cause was USH2A pathogenic variants, i.e. 19 variants in 14 families, 9 being novel. Less common were pathogenic variants in MYO7A (6 variants in 3 families, 5 being novel), USH1C and CDH23 (3 variants, 2 being novel, in 2 families both) genes. In 2 families, compound heterozygosity was found for variants in two different USH genes. The deafblindness etiology was clarified for 24 patients from...

The diploma thesis deals with development and education in families with a child with dual sensory impairment, namely, from mother's point of view. The objective is to analyse stories of selected mothers of children with this particular disability, to explore the course of development and education involving deafblind children from different points of view (pedagogical, psychological etc.). The author of this thesis tries to find out about mothers' experiences and models of behaviour during pregnancy and afterwards. It focuses on acceptance of the disabled child within (and possibly outside) the family. In addition, the thesis explores reactions of mothers and others to a child with disability, it outlines the subsequent course of development and education in various periods of life. The particular emphasis is put on specific ways, by which these mothers developed their children during different activites (plays, conpensatory senses development, communication system development, independence of deafblind children etc.). It also describes developmental delays (emotional, social and cognitive functioning). Education options for deafblind are also mentioned. The stories are then compared to each other, as well as to selected literature from different countries. At the end of this thesis, practical...