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.

More than 60% of the adult population in the United States is overweight, and obesity has reached epidemic proportions in this country. Childhood obesity has more than doubled since 1990, and the health consequences are reflected in the rising cost of health care. There has also been a significant drop in physical activity across the country and physical education is no longer required in middle schools. The lack of physical activity and issues of weight can compromise the ability of the individual who is blind or visually impaired to maneuver through the environment safely and efficiently. The purpose of this study was to examine the perceptions of itinerant teachers of students with visual impairments about the importance of physical activity for their students with visual impairments and its effect on academic success and social relationship.Data was gathered from 175 teachers of students with visual impairments concerning their perceptions regarding the importance of physical activity and obesity and their relationship with academic success and social relationships. The teachers indicated that physical activity for their students is very important. They described a multitude of barriers that account for a lack of involvement in the general physical education classes in which they were enrolled.Teachers reported on their own personal physical activity levels in relationship to the importance they placed on their students' need to be active. The teachers did not indicate that being overweight was a particular issue with their visually impaired students, but they acknowledged that being overweight and a lack of physical activity create additional barriers for academic success and appropriate social relationships.The teachers also reported that the same barriers in physical education classes and access to recreation activities in the community that have been listed in past research studies were still in existence, and these barriers were also part of their dilemma in creating positive physical activity experiences for their students who are visually impaired. This study validated the necessity of further research to find the effective intervention strategies and programs to increase physical activity of students with visual impairments.

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.

Vision impairment is recognized as a global public health problem. Children are the most susceptible population to many of the vision diseases. Knowledge of the causes and prevalence of common types of visual impairments is important for planning of preventive health care services to ensure that the children receive proper eye care in a timely manner. The purpose of this thesis is to describe the prevalence of visual impairment and to identify associated risk factors among the prekindergarten children in Georgia. During August 2005 to May 2006, there were 30,115 prekindergarten children enrolled in the Prevent Blindness Georgia Children Vision Screening Program, and a total of 25,543 (84.8%) children received vision screening. A total of 1,345 (5.27%) children had visual impairments and were referred to take an eye exam. Over 80% of the children who were referred and received eye exams were found to have vision problems. Timely screening is one of the effective ways for early detection of vision problems among these children. This study showed there were significant differences in the screening rate between the children with high socioeconomic status and those with low socioeconomic status. Educational and promotion programs should focus on improving the knowledge of vision diseases and use of available preventive service, particularly by the community of low socioeconomic status.

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