The name retinitis pigmentosa defines a group of commonly inherited visual disorders, characterised by a progressive loss of vision. The disorder may be inherited in an autosomal dominant, recessive or X-linked recessive manner. Recently, three genes responsible for the autosomal dominant form have been identified: rhodopsin, RDS and ROM-1 on chromosomes 3,6 and 8 respectively. In this project, a panel of Scottish patients with a range of retinal degenerations including typical retinitis pigmentosa, Bardet-Biedl syndrome, Stagardts disease and cone rod dystrophy were screened for the presence of mutations in the rhodopsin and RDS genes using SSCP analysis, followed by direct sequencing to characterise the mutation. Four mutations within the rhodopsin gene and one in the RDS gene were detected and are likely to account for the phenotype in these individuals. Two polymorphisms, unrelated to the disease were also detected. Two of the four rhodopsin mutations and the RDS mutation change an amino acid residue in the corresponding proteins, whilst the third rhodopsin mutation alters the conserved splice site sequence in an intron. The effect of these mutations on the proteins is yet to be realised, but it is possible that they lead to the formation of a protein with impaired function, which in turn alters the biochemical or structural integrity of the rod cell and results in cell death. The fourth rhodopsin mutation occurs in the 3' untranslated region of the gene, but it is unknown whether this has any effect on the transcript or the protein. From the results of this study it is clear that mutations in the rhodopsin and RDS genes are a cause of retinitis pigmentosa, and also that SSCP analysis is an efficient mutation detection method.

This study investigated the effect of repeated reading on the reading achievement of middle school students with visual impairments. Using a matched subject research design, two pairs of students were matched on the following variables: reading level, reading medium and the presence or absence of additional disabilities. One student from each matched pair was randomly selected for the repeated reading intervention. The corresponding student in the pair was assigned to the control group. The repeated reading method used in this study required the student to reread a passage three times. The nonrepetitive method required the student to read a wide variety of young adult literature without any rereading of the text. The amount of time engaged in reading remained equivalent for the students in the matched pairs. The students were administered a preand posttest and the repeated reading intervention was conducted over a five week period. The mean differences in reading rate, correctly read words and comprehension were compared to determine if repeated reading was more effective than wide reading in improving reading fluency and comprehension. In addition, the study investigated if the gains in fluency using repeated reading generalized to new text. The results of the study indicated that there was not a significant difference between repeated reading and wide reading on reading rate, correctly read words or comprehension. In addition, the students who participated in the repeated reading showed a gain in fluency when rereading the same passage; however the gains in fluency were not transferred to new text. Repeated reading was not more effective than an equivalent amount of wide reading for improving fluency.

The use of Information and Communication Technology (ICT) has an immense potential to improve the support needs of learners with visual impairments as well as their self-sufficiency and self-reliance. In the last nine years, the South African government introduced inclusive education, through White Paper 6 that requires that Learning, Teaching and Support Material, including ICTs be provided to learners with visual impairments. The provision of Assistive Technology devices (ATs) is essential to learners with visual impairments full involvement in learning through the use of ICTs. Furthermore, literature indicates that many studies were done in the use of ICTs in teaching and learning, specifically for learners with diverse visual impairments. Recommendations were also supplied by these studies on how and when to use ICTs in the teaching and learning of visually impaired learners. The empirical research of this study revealed that ICTs are essential tools for visually impaired learners to enhance their learning. It also drew attention to the fact that despite the commitments of White Paper 6 schools for the visually impaired are not yet supplied with appropriate ICTs and educators are not adequately trained to apply ICTs in teaching and learning. / Thesis (M.Ed.)--North-West University, Vaal Triangle Campus, 2011

The use of Information and Communication Technology (ICT) has an immense potential to improve the support needs of learners with visual impairments as well as their self-sufficiency and self-reliance. In the last nine years, the South African government introduced inclusive education, through White Paper 6 that requires that Learning, Teaching and Support Material, including ICTs be provided to learners with visual impairments. The provision of Assistive Technology devices (ATs) is essential to learners with visual impairments full involvement in learning through the use of ICTs. Furthermore, literature indicates that many studies were done in the use of ICTs in teaching and learning, specifically for learners with diverse visual impairments. Recommendations were also supplied by these studies on how and when to use ICTs in the teaching and learning of visually impaired learners. The empirical research of this study revealed that ICTs are essential tools for visually impaired learners to enhance their learning. It also drew attention to the fact that despite the commitments of White Paper 6 schools for the visually impaired are not yet supplied with appropriate ICTs and educators are not adequately trained to apply ICTs in teaching and learning. / Thesis (M.Ed.)--North-West University, Vaal Triangle Campus, 2011

The development of postural stability in children with and without visual impairments (VI) was compared. Thirty eight subjects (4- 12 years old) without VI and 12 subjects with VI (5- 12 years) took part. Stability was measured in 4 quiet standing tasks (normal or foam surface, eyes open (EO) or eyes closed (EC)) and by measuring stability limits (SL) in the anterio-posterior (a-p) and lateral (lat) planes. Results for control subjects were compared using Pearson correlation coefficients, analysis of variance, and analysis of covariance (height as the covariate). For quiet standing tasks, outcome parameters were the standard deviation (SO) of the centre of pressure (CP) in the a-p and lat planes, and mean velocity (vel) of CP movements. For the leaning tasks, SL was measured (normalized to the base of support) in the a-p and lat planes, and SL was compared to CP. Individual results for subjects with VI were compared qualitatively to control subjects. For control subjects, stability increased with age. Subjects with VI were less _stable than controls on all outcome parameters. Differences between groups were more apparent as age increased, particularly for EO conditions. This could indicate a slower pattern of development for subjects with VI compared to controls. The groups were different both in the EO and EC conditions, indicating that postural control with EC is not the same as postural control with a VI, and that vision is important to the development of postural control in children. / Thesis / Master of Science (MSc)

This study analyzes the changes in disability-specific curriculum that took place in one specialized school for the blind driven by academic priorities from 1995 to 2005. The framework used in this case study approach analyzed the school's past and present (1) Artifacts - visible organizational structures and materials, (2) Expressed Values- explicitly written or stated beliefs and policies, and (3) Underlying Assumptions- unspoken attitudes and beliefs. Variables for change among the areas of teacher training, team teaching, evaluation systems, IEP's, state standards, the school improvement plan, short term and summer programming, as well as the residential program were all targeted to balance academics with an Expanded Core curriculum. The results indicate a balanced curriculum for some of the variables while other areas continue to reflect the struggle of mandates.

Orientador: Cecília Guarnieri Batista / Dissertação (mestrado profissional) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-19T13:56:20Z (GMT). No. of bitstreams: 1 Ruiz_LeticiaCoelho_M.pdf: 1089709 bytes, checksum: bf8d92d2105df69402d550a6f1933b76 (MD5) Previous issue date: 2011 / Resumo: O brincar tem sido abordado sob diversos aspectos e reconhecido como um indicador de desenvolvimento infantil. Alguns autores discutem o brincar em crianças com alterações no desenvolvimento, e sua contribuição para o desenvolvimento. Com base nesses estudos, esta pesquisa analisa questões referentes ao brincar em grupos de crianças na faixa etária de 5 a 8 anos, com diagnósticos de deficiência visual ou alteração visual. As crianças foram organizadas em dois grupos e o material foi coletado por meio de videogravações de oito sessões em cada um dos grupos e registros em diário de campo. A análise qualitativa de episódios propiciou a discussão sobre a interação dos participantes entre si, com os brinquedos e a atuação do adulto na relação com o grupo. Observou-se a organização de brincadeiras conjuntas e a elaboração de enredos de faz de conta, que se tornaram mais complexos e envolveram maior atividade conjunta entre as crianças ao longo das sessões. Considerou-se que o contexto de brincadeira relativamente livre propiciou o aparecimento de habilidades pouco relatadas nas entrevistas com as mães e nas descrições diagnósticas do serviço. Na análise dos resultados, foram descritos e discutidos incentivos e estratégias do pesquisador, de forma a propiciar essas brincadeiras e de superar os obstáculos identificados para a interação entre crianças com alterações visuais. A pesquisa traz subsídios para a intervenção educacional, especialmente no que se refere à situação de brincadeira em grupo, ao destacar seu papel para o processo de desenvolvimento / Abstract: Play has been approached in several ways and recognized as an indicator of child development. Some authors discuss the role of play among children with developmental alterations, and its contribution to development. Based on these studies, this research aims to discuss issues related to play (with focus on make-believe play) in groups of children aged 5-8 years, with diagnoses of visual impairment or visual alterations. The children were organized into two groups and the material was collected by means of video recordings of eight sessions in each group and entries in a field diary. Qualitative analysis of episodes led the discussion on the interaction among the participants themselves, with toys and adults action inside the group There was the organization of joint play and development of make-believe scenarios that have become more complex and involved greater joint activity among children throughout the sessions. It was considered that the context of relatively free play enabled the emergence of skills rarely described in interviews with the mothers and the descriptions of the diagnostic service. In analyzing the results, were described and discussed incentives and strategies of the researcher, in order to provide these games and to overcome identified obstacles to the interaction between children with visual impairment. The research provides grants to educational intervention, especially with regard to the situation of playing in groups, to highlight its role in the development process / Mestrado / Interdisciplinaridade e Reabilitação / Mestre em Saúde, Interdisciplinaridade e Reabilitação

Orientador: Maria da Consolação Gomes Cunha Fernandes Tavares / Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Educação Física / Made available in DSpace on 2018-08-22T01:05:04Z (GMT). No. of bitstreams: 1 Morgado_FabianeFrotadaRocha_D.pdf: 3909521 bytes, checksum: 5e4d5ae673ae47c748b049a91523a2a0 (MD5) Previous issue date: 2013 / Resumo: A autoaceitação é a aceitação de si mesmo da maneira que se é por meio do reconhecimento das próprias características positivas e negativas e da valorização daquelas características consideradas positivas. Esse constructo é considerado um mecanismo psicológico central para o quadro de imagem corporal positiva, portanto, um importante elemento para o desenvolvimento integrado da personalidade. Embora sua importância, há uma lacuna no conhecimento atual a respeito da autoaceitação de pessoas com cegueira congênita ou precoce, a qual pode estar relacionada a uma observada escassez de instrumentos válidos e precisos para investigar essa questão. O objetivo desta pesquisa foi ampliar as possibilidades de avaliar a autoaceitação em pessoas com cegueira congênita ou precoce, por meio da criação e investigação das qualidades psicométricas de uma escala específica para essa finalidade, denominada "Escala de Autoaceitação para pessoas com cegueira congênita ou precoce" (EAC). Três estudos compuseram esta pesquisa. No estudo 1, foram gerados 33 itens iniciais para a EAC, dispostos em quatro fatores distintos - "gostar do corpo", "cuidar do corpo", "proteger-se de estigmas sociais" e "sentir-se capaz". Para essa finalidade, foram utilizadas informações provindas da literatura especializada e de dois grupos focais realizados com 11 adultos com cegueira congênita ou precoce. No estudo 2, nove peritos e 22 sujeitos com cegueira congênita ou precoce avaliaram o conteúdo da EAC. Como resultado, sete itens foram excluídos, um item foi incluído e 22 itens foram reformulados, o que determinou indícios de validade de conteúdo da nova escala. No estudo 3, as qualidades psicométricas da EAC foram avaliadas. A amostra foi composta por 318 sujeitos com cegueira congênita ou precoce. Utilizando a análise fatorial confirmatória como a principal estratégia para a análise dos dados, a versão final da escala foi composta de 18 itens, distribuídos em três fatores - "aceitação corporal", "proteção de estigmas sociais" e "sentimentos e crenças de capacidade" - com adequados parâmetros de validade convergente, discriminante e confiabilidade. Esperamos que a EAC possibilitasse o desenvolvimento de pesquisas futuras que investiguem a autoaceitação em pessoas que não enxergam desde idades precoces, contribuindo tanto para ampliação consistente do conhecimento nesta área, quanto para inclusão expressiva desse grupo nos estudos da área da imagem corporal / Abstract: Self-acceptance is the acceptance of oneself, as the person is, through the recognition of its own positive and negative characteristics and the valorization of those characteristics considered as positive. This construct is considered as a central psychological characteristic for the positive body image, and therefore, an important element for the integrate personality development. Although its importance, there is a theoretical lack of knowledge about the self-acceptance of persons with congenital or early blindness, which could be related with scarcity of psychometric sound scales to investigate this issue. The aim of this research was amplify the possibilities of self-acceptance evaluation in persons with congenital or early blindness, with the development and psychometric analysis of a specific scale, called "Self-acceptance Scale for people with congenital or early blindness" (SAS). Three studies were made in this research to achieve our aims. In study 1, 33 initial items were generated for SAS, organized in four theoretical distinct factors - "body appreciation", "body care", "and self-protection from social stigmas", "feeling oneself capable". Item generation was based in specialized theoretical information form literature review and information collected from two focus groups, realized with 11 adults with congenital or early blindness. In study 2, nine experts and 22 participants with congenital or early blindness evaluated the content of SAS. The resulted point for the exclusion of 7 items, an inclusion of an additional item, and the review and reformulation of 22 items, which determined the content validity of SAS. In study 3, the psychometric parameters of SAS were evaluated. The samples were composed by 318 participants with congenital or early blindness. Confirmatory factor analyses were used as main statistic method for data analysis. The scale final version was composed by 18 items, distributed in 3 factors - "body acceptance", "self-protection from social stigmas", "felling and believing in oneself capacities", showing adequate evidences of concurrent and discriminant validity and internal reliability. We hope that SAS could possibility o development of future researches focused in investigate self-acceptance in persons that are not able to see since early ages, contributing both for the consistent growth of the knowledge in this area and the consistent inclusion of this group in body image research / Doutorado / Atividade Fisica Adaptada / Doutor em Educação Física

Orientadores: Keila Miriam Monteiro de Carvalho, Rodrigo Pessoa Cavalcanti Lira / Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-22T10:04:39Z (GMT). No. of bitstreams: 1 Zimmermann_Anita_D.pdf: 2614474 bytes, checksum: 1d6ddd4b27c92b25dfed8b28ff8b7940 (MD5) Previous issue date: 2013 / Resumo: Objetivo: Avaliar a Visão Funcional de crianças de zero a 5 anos e 11 meses de idade, após diagnóstico oftalmológico de Baixa Visão, para identificar a necessidade de Estimulação Visual no grupo estudado do Serviço de Estimulação Visual/VSN/OFTALMOLOGIA/HC/FCM/UNICAMP. Materiais e Métodos: Trata-se de estudo transversal analítico, aprovado pelo Comitê de Ética em Pesquisa, nº 1025/2010. Foi utilizado instrumento de Avaliação da Visão Funcional Infantil, organizado após estudos na literatura de autores nacionais e internacionais, na busca por avaliações da visão funcional que contemplassem a necessidade do serviço. Considerando-se as diferentes faixas etárias infantis propostas neste estudo, com n = 143, ponderou-se sobre a efetividade de algumas avaliações pesquisadas, organizando-se instrumento avaliatório, com tópicos, desenvolvidos de maneira a se obter respostas visuais eficientes para determinar condutas em Estimulação Visual. O Instrumento de Avaliação da Visão Funcional Infantil foi aplicado em grupo controle, com mesmo n (n=143) para sua validação. Resultados: As afecções oftalmológicas, responsáveis pelas deficiências visuais do grupo estudado foram: Retinopatia da Prematuridade, Afecções de Nervo Óptico, Deficiência Visual Cortical, Coriorretinite Macular Infecciosa, Malformações Oculares, Catarata Infantil, Degenerações Primárias da Retina, Glaucoma Congênito, Ceratopatias e Trauma Ocular ou Orbitário. A distribuição por idades foi determinada pela proximidade de respostas visuais esperadas para cada faixa etária deste estudo. Em relação ao Desenvolvimento Neuro Psico Motor (DNPM), 44 (30%) crianças apresentavam Bom desenvolvimento Neuro Psico Motor (BDNPM) e 99 (70%) Retardo no Desenvolvimento Neuro Psico Motor (RDNPM). No grupo controle, 2 crianças (1,4%) apresentaram RDNPM. Após aplicação do Instrumento de Avaliação da Visão Funcional Infantil, Parte 1 e Parte 2 (Teste com Cartões de Teller), das 143 crianças estudadas, 107, representando 74% do total, receberam indicação para Estimulação Visual. No grupo controle, independente do DNPM, nenhuma criança recebeu indicação para estimulação visual. Conclusão: O Instrumento de Avaliação da Visão Funcional Infantil, em sua composição com o teste com Cartões de Teller, foi eficiente para determinar condutas em estimulação visual / Abstract: Objective: To evaluate the Functional Vision in children between zero and 5 years and 11 months old, after ophthalmological diagnosis of Low Vision, in order to identify the necessity of Visual Stimulation in the studied group from the Visual Stimulation Service/VSN/OPHTHALMOLOGY/HC/FCM/UNICAMP. Materials and Methods: This is a transversal analytical study, approved by the Research Ethics Committee, nº 1025/2010. It was used an Instrument for Functional Vision Evaluation for Children, organized after studies in the literature of national and international authors, in the search for functional vision evaluations which addressed the need for the service. Considering the different infant ages proposed on this study, with n = 143, the effectiveness of some evaluations surveyed were pondered, resulting in the organization of an evaluation instrument, with topics, developed in order to obtain efficient visual answers to determine Visual Stimulation conducts. The Instrument for Functional Vision Evaluation was applied in the Control Group, with similar n (n=143) for its validation. Results: The ophthalmologic diseases, responsible for the visual deficiencies of the studied group were: Retinopathy of Prematurity, Optical Nerve Disorder, Cortical Visual Deficiency, Infectious Macular Chorioretinitis, Ocular Malformations, Child Cataract, Retinal Primary Degenerations, Congenital Glaucoma, Ceratopatias and Ocular or Orbital Trauma. The age distribution was determined by the proximity of visual responses expected for each group age on this study. Regarding to the Psycho Neuro Motor Development (PNMD), 44 (30%) of the children presented Good Psycho Neuro Motor Development (GPNMD) and 99 (70%) presented Retardation of Psycho Neuro Motor Development (RPNMD). After the application of the Instrument for Functional Vision Evaluation for Children, Part 1 and Part 2 (Test with Teller Cards), on the 143 evaluated children, 107, representing 74% of the total, received indication for Visual Stimulation. In the control group, independently from the PNMD, no children has received indication for visual stimulation. Conclusion: The Instrument for Functional Vision Evaluation for Children, in its composition with the Test with Teller Cards, was efficient to identify conducts in Visual Stimulation / Doutorado / Ciencias Biomedicas / Doutora em Ciências Médicas

abstract: Societal infrastructure is built with vision at the forefront of daily life. For those with severe visual impairments, this creates countless barriers to the participation and enjoyment of life’s opportunities. Technological progress has been both a blessing and a curse in this regard. Digital text together with screen readers and refreshable Braille displays have made whole libraries readily accessible and rideshare tech has made independent mobility more attainable. Simultaneously, screen-based interactions and experiences have only grown in pervasiveness and importance, precluding many of those with visual impairments. Sensory Substituion, the process of substituting an unavailable modality with another one, has shown promise as an alternative to accomodation, but in recent years meaningful strides in Sensory Substitution for vision have declined in frequency. Given recent advances in Computer Vision, this stagnation is especially disconcerting. Designing Sensory Substitution Devices (SSDs) for vision for use in interactive settings that leverage modern Computer Vision techniques presents a variety of challenges including perceptual bandwidth, human-computer-interaction, and person-centered machine learning considerations. To surmount these barriers an approach called Per- sonal Foveated Haptic Gaze (PFHG), is introduced. PFHG consists of two primary components: a human visual system inspired interaction paradigm that is intuitive and flexible enough to generalize to a variety of applications called Foveated Haptic Gaze (FHG), and a person-centered learning component to address the expressivity limitations of most SSDs. This component is called One-Shot Object Detection by Data Augmentation (1SODDA), a one-shot object detection approach that allows a user to specify the objects they are interested in locating visually and with minimal effort realizing an object detection model that does so effectively. The Personal Foveated Haptic Gaze framework was realized in a virtual and real- world application: playing a 3D, interactive, first person video game (DOOM) and finding user-specified real-world objects. User study results found Foveated Haptic Gaze to be an effective and intuitive interface for interacting with dynamic visual world using solely haptics. Additionally, 1SODDA achieves competitive performance among few-shot object detection methods and high-framerate many-shot object de- tectors. The combination of which paves the way for modern Sensory Substitution Devices for vision. / Dissertation/Thesis / Doctoral Dissertation Computer Engineering 2020