A Novel Homozygous RPE65 Mutation in Leber Congenital Amaurosis Associated With Cone-Rod Dystrophy

Purpose: To report the clinical and genetic study of a family with Leber congenital amaurosis (LCA). Methods: We studied a consanguineous family from Yemen in which three individuals were affected with LCA. Genomic DNA was prepared from venous leukocytes. Linkage analysis of all family members using polymorphic markers flanking the known LCA genes was performed, followed by direct sequencing of all the exons and intron-exon junctions of the RPE65 gene. Results: The three affected were 5, 8 and 12 years old. Severe visual impairment and night blindness were noticed during infancy. Nystagmus was not a feature. Photophobia was only observed in the 8-year-old patient. The 5-year old youngest affected had a bilateral hyperopia of +3.50 and a visual acuity of 1/60. The oldest two had mild myopia and visual acuity limited to hand movements RE and counting fingers LE for the oldest and of 5/60 OD, 6/60 OS for the other. On fundus examination, they harbored common clinical features such as disc pallor, attenuated vessels, white flecks in the retina mid-periphery and bull's eye maculopathy. Electroretinograms of the oldest child were completely extinguished while residual scotopic responses with abolished photopic and flicker responses were observed in the two youngest. Sequencing identified a novel missense mutation, IVS2-3C>G, in the second RPE65 intron. The mutation was not detected in 80 ethnically matched normal individuals. Conclusion: We have identified a novel LCA-related homozygous RPE65 mutation associated with a severe clinical presentation including an early and severe cone dysfunction. This is in contrast with the presentation associated with other RPE65 mutations predominantly causing a rod-cone dystrophy with residual cone function. The identified mutation potentially affects splicing of the third exon and could result in a loss of function. Definite functional consequences of this change still need to be characterized.

Do childhood cancer survivors with physical performance limitations reach healthy activity levels?

BACKGROUND: The extent to which physical performance limitations affect the ability of childhood cancer survivors to reach healthy activity levels is unknown. Therefore this study aims to describe the effect of different types of limitations on activity levels in survivors. PROCEDURE: Within the Swiss Childhood Cancer Survivor Study we sent a questionnaire to all survivors (≥16 years) registered in the Swiss Childhood Cancer Registry, who survived >5 years and were diagnosed 1976-2005 aged <16 years. We measured healthy activity levels using international guidelines and assessed different kinds of performance limitations (visual impairment, weight and endurance problems, cardiorespiratory, musculoskeletal, and neurological problems, pain and fatigue syndromes). RESULTS: The sample included 1,560 survivors (75% response rate), of whom 209 (13.5%) reported they have performance limitations. Forty-two percent of survivors with limitations reached healthy activity levels, compared to 57% of survivors without limitations. Least active were survivors with vision impairments (25% active), weight and endurance problems (27.3%), cardiorespiratory problems (36.4%), and musculoskeletal problems (43.1%). After adjusting for socio-demographic variables and type of cancer, we found that survivors with limitations were 1.4 (95%CI 1.0-2.0; P = 0.047) times more likely to be inactive. CONCLUSIONS: Although many survivors with physical performance limitations maintain healthy activity levels, there is room for improvement. Adapted and targeted physical activity counseling for survivors with performance limitations might help them to raise level of activity and pursue a healthy lifestyle.

Épidémiologie et physiopathologie de la rétinopathie du prématuré [Epidemiology and pathophysiology of retinopathy of prematurity].

Retinopathy of prematurity (ROP) is a major cause of visual impairment in premature infants. It is characterized by an arrest in normal retinal vascular development associated with microvascular degeneration, followed by an abnormal hypoxiainduced neovascularization. Recent studies point out that ROP is a multifactorial disease, implicating both oxygen-dependent and oxygen-independent mechanisms. Oxygen-dependent factors leading to microvascular degeneration include generation of reactive oxygen species and suppression of specific oxygen-regulated vascular survival factors, such as vascular endothelial growth factor (VEGF) and erythropoietin. The other major mechanism for the initial capillary loss is oxygen-independent and implicates a deficit in growth factor IGF-1/IGFBP3. The proliferative, second phase of ROP is triggered by increases in vascular growth factors concentrations, in an attempt to compensate for the hypoxic retina. Novel signaling pathways for vascular repair, implicating both metabolite signaling and inflammatory lipids signaling, represent new therapeutic avenues for ROP.

Expanding view of phenotype and oxidative stress in Friedreich's ataxia patients with and without idebenone

Summary: Friedreich's ataxia (FRDA), the most common autosomal recessive ataxia, is characterised by progressive ataxia with dysarthria of speech, loss of deep-tendon reflexes, impaired vibratory and proprioceptive sensations and corticospinal weakness with a Babinski's sign. Patients eventually also develop kyphoscoliosis, cardiomyopathy and diabetes mellitus. The disease is a GAA repeat disorder resulting in severely reduced levels of frataxin, with secondary increased sensitivity to oxidative stress. The anti-oxidative drug, idebenone, is effective against FRDA-associated cardiomyopathy. We provide detailed clinical, electrophysiological and biochemical data from 20 genetically confirmed FRDA patients and have analysed the relation-ship between phenotype, genotype and malondialdehyde (MDA), which is a marker of superoxide formation. We assessed the effects of idebenone biochemically by measuring blood M DA and clinically by serial measurements of the International Cooperative Ataxia Rating Scale (ICARS). The GAA repeat length influenced the age at onset (p <0.001), the severity of ataxia (p= 0.02), the presence of cardiomyopathy (p =0.04) and of low-frequency hearing loss (p = 0.009). Multilinear regression analysis showed (p = 0.006) that ICARS was dependent on the two variables of disease duration (p = 0.01) and size of the GAA expansion (p = 0.02). We found no correlation to bilateral palpebral ptosis visual impairment, diabetes mellitus or skeletal deformities, all of which appear to be signs of disease progression rather than severity. We discuss more thoroughly two underrecognised clinical findings: palpebral ptosis and GAA length-dependent low-frequency hearing loss. The average ICARS remained unchanged in 10 patients for whom follow-up on treatment was available (mean 2.9 years), whereas most patients treated with idebenone reported an improvement in dysarthria (63%), hand dexterity (.58%) and fatigue (47%) after taking the drug for several weeks or months. Oxidative stress analysis showed an unexpected increase in blood MDA levels in patients on idebenone (p = 0.04), and we discuss the putative underlying mechanism for this result, which could then explain the unique efficacy of idebenone in treating the FRDA-associated cardiomyopathy, as opposed to other antioxidative drugs. Indeed, idebenone is not only a powerful stimulator of complexes II and III of the respiratory chain, but also an inhibitor of complex I activity, then promoting superoxide formation. Our preliminary clinical observations are the first to date supporting an effect of idebenone in delaying neurological worsening. Our MDA results point to the dual effect of idebenone on oxidative stress and to the need for controlled studies to assess its potential toxicity at high doses on the one hand, and to revisit the exact mechanisms underlying the .physiopathology of Friedreich's ataxia on the other hand, while recent reports suggest non-oxidative pathophysiology of the disease.

Eye Fundus Image Analysis for Automatic Detection of Diabetic Retinopathy

Diabetes is a rapidly increasing worldwide problem which is characterised by defective metabolism of glucose that causes long-term dysfunction and failure of various organs. The most common complication of diabetes is diabetic retinopathy (DR), which is one of the primary causes of blindness and visual impairment in adults. The rapid increase of diabetes pushes the limits of the current DR screening capabilities for which the digital imaging of the eye fundus (retinal imaging), and automatic or semi-automatic image analysis algorithms provide a potential solution. In this work, the use of colour in the detection of diabetic retinopathy is statistically studied using a supervised algorithm based on one-class classification and Gaussian mixture model estimation. The presented algorithm distinguishes a certain diabetic lesion type from all other possible objects in eye fundus images by only estimating the probability density function of that certain lesion type. For the training and ground truth estimation, the algorithm combines manual annotations of several experts for which the best practices were experimentally selected. By assessing the algorithm’s performance while conducting experiments with the colour space selection, both illuminance and colour correction, and background class information, the use of colour in the detection of diabetic retinopathy was quantitatively evaluated. Another contribution of this work is the benchmarking framework for eye fundus image analysis algorithms needed for the development of the automatic DR detection algorithms. The benchmarking framework provides guidelines on how to construct a benchmarking database that comprises true patient images, ground truth, and an evaluation protocol. The evaluation is based on the standard receiver operating characteristics analysis and it follows the medical practice in the decision making providing protocols for image- and pixel-based evaluations. During the work, two public medical image databases with ground truth were published: DIARETDB0 and DIARETDB1. The framework, DR databases and the final algorithm, are made public in the web to set the baseline results for automatic detection of diabetic retinopathy. Although deviating from the general context of the thesis, a simple and effective optic disc localisation method is presented. The optic disc localisation is discussed, since normal eye fundus structures are fundamental in the characterisation of DR.

Mercury toxicity in the Amazon: contrast sensitivity and color discrimination of subjects exposed to mercury

We measured visual performance in achromatic and chromatic spatial tasks of mercury-exposed subjects and compared the results with norms obtained from healthy individuals of similar age. Data were obtained for a group of 28 mercury-exposed subjects, comprising 20 Amazonian gold miners, 2 inhabitants of Amazonian riverside communities, and 6 laboratory technicians, who asked for medical care. Statistical norms were generated by testing healthy control subjects divided into three age groups. The performance of a substantial proportion of the mercury-exposed subjects was below the norms in all of these tasks. Eleven of 20 subjects (55%) performed below the norms in the achromatic contrast sensitivity task. The mercury-exposed subjects also had lower red-green contrast sensitivity deficits at all tested spatial frequencies (9/11 subjects; 81%). Three gold miners and 1 riverine (4/19 subjects, 21%) performed worse than normal subjects making more mistakes in the color arrangement test. Five of 10 subjects tested (50%), comprising 2 gold miners, 2 technicians, and 1 riverine, performed worse than normal in the color discrimination test, having areas of one or more MacAdam ellipse larger than normal subjects and high color discrimination thresholds at least in one color locus. These data indicate that psychophysical assessment can be used to quantify the degree of visual impairment of mercury-exposed subjects. They also suggest that some spatial tests such as the measurement of red-green chromatic contrast are sufficiently sensitive to detect visual dysfunction caused by mercury toxicity.

Five years results after intrafamilial kidney post-transplant in a case of familial hypomagnesemia due to a claudin-19 mutation

Introduction: Familial Hypomagnesaemia with hypercalciuria and nephrocalcinosis, with severe ocular impairment secondary to claudin-19 mutation, is a rare recessive autossomic disorder. Its spectrum includes renal Mg2+ wasting, medullary nephrocalcinosis and progressive chronic renal failure in young people. Objective: To report a case of kidney transplantation father to daughter in a familial occurrence of severe bilateral nephrocalcinosis associated with ocular impairment in a non-consanguineous Brazilian family, in which two daughters had nephrocalcinosis and severe retinopathy. Methods: The index case, a 19 years-old female, had long-lasting past medical history of recurrent urinary tract infections, and the abdominal X-ray revealed bilateral multiple renal calcifications as well as ureteral lithiasis, and she was under haemodialysis. She had the diagnosis of retinitis pigmentosa in the early neonatal period. The other daughter (13 years-old) had also nephrocalcinosis with preserved kidney function, retinopathy with severe visual impairment, and in addition, she exhibited hypomagnesaemia = 0.5 mg/dL and hypercalciuria. The other family members (mother, father and son) had no clinical disease manifestation. Mutation analysis at claudin-19 revealed two heterozygous missense mutations (P28L and G20D) in both affected daughters. The other family members exhibited mutant monoallelic status. In despite of that, the index case underwent intrafamilial living donor kidney transplantation (father). Conclusion: In conclusion, the disease was characterized by an autosomal recessive compound heterozygous status and, after five years of donation the renal graft function remained stable without recurrence of metabolic disturbances or nephrocalcinosis. Besides, donor single kidney Mg2+ and Ca2+ homeostasis associated to monoallelic status did not affect the safety and the usual living donor post-transplant clinical course.

Social skills of children with different disabilities: Assessment and implications for interventions

This study characterizes the differences and similarities in the repertoire of social skills of children from 12 different categories of special educational needs: autism, hearing impairment, mild intellectual disabilities, moderate intellectual disabilities, visual impairment, phonological disorder, learning disabilities, giftedness and talent, externalizing behavior problems, internalizing behavior problems, internalizing and externalizing behavior problems and attention deficit hyperactivity disorder. Teachers of 120 students in regular and special schools, aged between 6 and 14 years old, from four Brazilian states, responded to the Social Skills Rating System. Children with ADHD, autism, internalizing and externalizing behavior problems and externalizing behavior problems presented comparatively lower frequency of social skills. The intervention needs of each evaluated category are discussed.

Resultados de la terapia antiangiogenica con Ranibizumab en retinopatia del prematuro: revisión sistemática.

Introducción: La retinopatía del prematuro (ROP) se presenta hasta en el 73% de los neonatos pretérmino por debajo de la semana 27, los agentes antiangiogénicos se presentan como una herramienta para su tratamiento con resultados prometedores. En el presente estudio se pretendió evaluar los resultados de la terapia antiangiogénica con ranibizumab en pacientes con retinopatía del prematuro según la evidencia descrita hasta la fecha. Metodología: se realizó una revisión sistemática de literatura con componente meta-analítico de los datos sociodemográficos y clínicos, incluyendo todos los artículos sobre el tema sin límite de fecha de publicación. Se usó una estrategia de búsqueda en diferentes bases de datos, todos los estudios relacionados con el pronóstico de la enfermedad fueron elegibles. Resultados: Se encontraron un total de 13 artículos que cumplieron criterios de elegibilidad para su inclusión, que incluyeron 75 pacientes en total (133 ojos evaluados). La edad promedio al nacimiento fue 23.6 semanas, la edad al momento de aplicación de tratamiento fue 36.3 semanas. 11/13 artículos reportaron que el tratamiento con ranibizumab fue satisfactorio en términos de resolución completa de la enfermedad sin efectos secundarios (64 pacientes) Discusión: Los resultados de la terapia con ranibizumab para retinopatía del prematuro según la evidencia hasta la fecha permiten recomendar el uso de terapia antiangiogénica con el fin de mejorar la salud visual a mediano y largo plazo y por ende disminución en la prevalencia de ceguera por esta causa.

Comportamiento del desprendimiento del vítreo posterior en los pacientes expuestos a cirugía de catarata

Objetivo: Describir el comportamiento del desprendimiento del vítreo posterior (DVP) en pacientes expuestos a cirugía de catarata mediante la biomicroscopia, la ecografía ocular y la tomografía de coherencia óptica macular. Materiales y métodos: Se realizó un estudio descriptivo, una serie de casos clínicos de 13 pacientes expuestos a cirugía de catarata en la Fundación Oftalmológica Nacional entre febrero a julio de 2015, con seguimiento a 12 meses. Durante 6 visitas se les realizó toma de agudeza visual mejor corregida y biomicroscopía. Tambíen se les realizó ecografia ocular y tomografia de coherencia óptica macular. Resultados: El porcentaje de DVP por biomicroscopia cambió desde un 7.7% a un 38.4%. El porcentaje de DVP por ecografía en el área nasal cambió de 92.3% a 76.9%. En el área temporal la tasa de DVP cambió de 84.6% y a 76.9%. En al área superior se mantuvo en un 61.5%. En el área inferior varió de un 69.2% a un 76.9%. Y por último, en el área macular de un 53.8% a un 76.9%. El porcentaje de DVP por OCT cambio desde un 69.2% a un 76.9%, en la visita cero y la visita cuatro, respectivamente. Conclusiones: La cirugía de catarata acelera el proceso del DVP. Hubo una progresión del DVP según la biomicroscopia y el OCT, la ecografía no la consideramos una herramiento eficaz para describir la progresión del DVP. 


As atitudes dos professores face à inclusão de alunos com deficiência : o contacto com a deficiência

RESUMO: Actualmente as práticas de exclusão evoluíram para uma perspectiva de inclusão, assim como para a consciencialização dos direitos e deveres de cada um, como forma de dar resposta à sociedade heterogénea existente. A visão baseada nos sistemas de identificação e classificação dos sujeitos em várias categorias de deficiências era algo muito usual, mas que foi abolida, dando assim lugar ao conceito de Necessidades Educativas Especiais, com uma óptica mais abrangente, tendo em conta o contexto em que o sujeito está envolvido (Nunes, 2000). As atitudes dos professores face aos alunos com deficiência têm melhorado significativamente (Ribeiro, 1999), no entanto o processo de inclusão destas crianças no ensino regular não está isento de problemas. Neste sentido, e para que este desafio seja ultrapassado com sucesso, torna-se essencial que os professores modifiquem as suas atitudes e passem a desempenhar um papel mais activo nas suas funções, devendo para isso, começar por adaptar o currículo, e posteriormente repensar as suas estratégias e métodos de trabalho, como forma a responder às necessidades de todos os alunos (Ainscow, 1997). O objectivo principal deste estudo é verificar se o contacto com a deficiência (a nível da experiência no ensino, formação inicial e contacto na infância/juventude), por parte dos professores, influencia as suas atitudes em relação à formação necessária para a inclusão de alunos com deficiência, bem como às vantagens que esta representa para esses mesmos alunos. A amostra foi constituída por 672 professores do ensino regular, todos estão actualmente no activo e leccionam níveis de ensino do Pré-Escolar ao Ensino Secundário, de Norte a Sul do país. (N = 482 do género feminino e N =190 do género masculino). O instrumento de avaliação aplicado foi o questionário APIAD – Atitude dos Professores face à Inclusão de Alunos com Deficiência (Leitão, 2011). Concluiu-se que a experiência no ensino de alunos com deficiência influencia significativamente a atitude dos professores face à formação necessária (deficiência motora: p<0,001; deficiência auditiva: p<0,001; deficiência visual: p<0,001; deficiência mental: p=0,004) e face às vantagens da inclusão para os alunos com deficiência (deficiência motora: p=0,005; deficiência auditiva: p<0,001; deficiência visual: p<0,001; deficiência mental: p=0,022). No que se refere ao contacto com pessoas com deficiência durante a formação inicial, concluiu-se que existem diferenças significativas na atitude dos professores face às vantagens da inclusão para os alunos com deficiência (deficiência motora: p<0,001; deficiência auditiva: p<0,001; deficiência visual: p<0,001; deficiência mental: p<0,001). No entanto, no que respeita à formação, a atitude dos professores não difere, independentemente de terem tido esse contacto (deficiência motora: p=0,393; deficiência auditiva: p=0,456; deficiência visual: p=0,055; deficiência mental: p=0,342). Relativamente ao contacto com pessoas com deficiência durante a infância/juventude conclui-se que não existem diferenças na atitude dos professores em relação à formação necessária (deficiência motora: p=0,893; deficiência auditiva: p=0,667; deficiência visual: p=0,459; deficiência mental: p=0,918). Por sua vez, no que respeita às vantagens da inclusão para os alunos com deficiência, esta variável só influencia significativamente a atitude dos professores no caso da deficiência visual (deficiência motora: p=0,154; deficiência auditiva: p=0,100; deficiência visual: p=0,045; deficiência mental: p=0,149). ABSTRACT: Currently the exclusionary practices evolved to an inclusion perspective, as well as the awareness of rights and duties of each one as a way to reply to the existing heterogeneous society. The vision-based systems for identification and classification of subjects into various categories of disabilities was very unusual, but it was abolished, giving way to the concept of Special Educational Needs, with a broader perspective, considering the context in which the subject is involved (Nunes, 2000). The teachers attitude face to the students with disabilities have improved significantly (Ribeiro, 1999), however the process of inclusion of these children in regular education isn't exempt of problems. In this direction and so this challenge is exceeded successfully, it is essential that teachers change their attitudes and start to perform a more active role in their functions, and to do so, start by adapting the curriculum and then rethink their strategies and working methods, in order to meet the needs of all students (Ainscow, 1997). The main purpose of this study is to verify that the contact with the disability (educational level of experience, initial formation and contact in childhood/youth), among teachers, influences their attitudes towards the needed formation for the inclusion of students with disabilities as well as the benefits that this represents for them. The sample consisted by 672 regular educational teachers, all currently in employment and teaching from Preschool to High school, from North to South. (N = 482 females and N = 190 males). The evaluation instrument used was the survey APIAD - Teachers attitude towards the inclusion of students with disabilities (Leitão, 2011). It was concluded that the experience in teaching students with disabilities influences significantly the teachers attitude faced to the necessary formation (motor disability: p<0,001; hearing impairment: p<0,001; visual impairment: p<0,001; mental disability: p=0,004) and faced to the inclusion benefits for students with disabilities (motor disability: p=0,005; hearing impairment: p<0,001; visual impairment: p<0,001; mental disability: p=0,022).Concerning to the contact with people with disabilities during the initial formation, it was concluded that there are significant differences in the teachers attitude face to the inclusion benefits for students with disabilities (motor disability: p<0,001; hearing impairment: p<0,001; visual impairment: p<0,001; mental disability: p<0,001). In relation to the formation, the teachers attitude is the same, regardless of whether or not they have had such contact (motor disability: p=0,393; hearing impairment: p=0,456; visual impairment: p=0,055; mental disability: p=0,342). Regarding to the contact with people with disabilities during childhood/youth, it was concluded that there is no difference in the teachers attitude in relation to the formation needed (motor disability: p=0,893; hearing impairment: p=0,667; visual impairment: p=0,459; mental disability: p=0,918). On the other way, regarding to the inclusion benefits for students with disabilities, this influences significantly the teachers attitude just in the visual impairment. (motor disability: p=0,154; hearing impairment: p=0,100; visual impairment: p=0,045; mental disability: p=0,149).

As atitudes dos professores face à inclusão de alunos com deficiência no Ensino Regular

As sociedades actuais caracterizam-se pela mudança, complexidade e diversidade cultural. De dia para dia assistimos cada vez mais à passagem das responsabilidades educativas da comunidade para a escola, assumindo esta, um papel preponderante na formação dos nossos jovens. O professor, é assim, considerado um elemento chave na construção de uma escola inclusiva e para que haja uma efectiva mudança da escola e das estratégias da sala de aula (Costa, 1999). O objectivo deste estudo é investigar as atitudes dos professores, determinando como estes percepcionam as suas Competências e de que forma essas atitudes são influenciadas, ou não, tendo em conta a experiência profissional, o grupo disciplinar a que pertencem, a experiência no ensino de alunos com deficiência e a formação inicial cujas áreas de estudo, estiveram directamente relacionados com a deficiência. A amostra deste estudo foi constituída por um total de 741 professores do ensino regular (534 afectos ao género feminino e 207 afectos ao género masculino). Foi aplicado o questionário APIAD – Atitudes dos Professores face à Inclusão de Alunos com Deficiência (Leitão, 2011), inferido através da resposta a 14 afirmações, em que cada uma delas deverá ser relacionado com 4 condições de deficiência (deficiência visual, deficiência auditiva, deficiência mental e deficiência motora). Concluiu-se então que, relativamente ao Grupo Disciplinar, as diferenças significativas se encontram entre os professores de Educação Física e os professores de Humanidades e de Ciências, sendo que os primeiros têm uma atitude mais positiva relativamente às suas competências. Quanto ao Contacto com a Deficiência, os resultados indicaram que os professores que têm experiência no ensino de alunos com deficiência têm uma atitude mais positiva relativamente às suas competências. No que se refere à Experiência Profissional, os nossos resultados encontram diferenças significativas entre os professores com menos anos de experiência e os professores com mais anos de experiência, sendo que os primeiros têm uma atitude mais positiva relativamente às suas competências Por último, em relação à Formação Inicial, os professores cujas áreas de estudo, na sua formação inicial, estiveram directamente relacionados com deficiência têm uma atitude mais positiva relativamente às suas competências. ABSTRACT: Today, societies are characterized by change, complexity and cultural diversity. Each day, we saw more and more responsibilities passing from the educational community to school, assuming that a major role in the formation of our youth. Teacher is considered a key element in the building of an inclusive school and for that there is a real change of school and classroom strategies (Costa, 1999). The purpose of this study is to investigate teacher´s attitudes, determining how they perceive their skills and how these attitudes are or aren´t influenced taking into account the professional experience, the subject group they belong to, the experience in students with those particular needs teaching and last, the initial training with chairs that had contact with people with needs. The study sample consisted in a total of 741 teachers of the regular education (534 allocated to the female and 207 assigned to the male gender). We used the questionnaire APIAD - Attitudes of teachers towards the Inclusion of Students with Disabilities (Leitão, 2011), inferred by the response to 14 statements, each one of them should be related to four conditions of disability (visual impairment, hearing impairment, mental retardation and physical disabilities). It was concluded then that for the Disciplinary Group, significant differences are found between the physical education teachers and teachers of Humanities and Sciences, and the former have a more positive attitude to their skills. How to contact the Disability, the results indicated that teachers who have experience teaching students with disabilities have a more positive attitude to their skills. With regard to professional experience, significant differences were found between teachers with fewer years of experience and teachers with more years of experience, and the former have a more positive attitude to their skills. Finally, regarding to initial training, teachers in their initial training formation who have contact with people with disabilities have a more positive attitude to their skills.

Lighting the homes of people who are visually impaired

An extended research project, funded by the Thomas Pocklington Trust, and carried out by the Research Group for Inclusive Environments (RGIE) at The University of Reading, has examined the lighting found in the homes of people who are visually impaired (VIP). This paper will summarise the results of this substantive study. All the surveyed homes have been occupied by people with sight loss, some of the dwellings were shared with sighted partners. There are several safety issues concerning domestic lighting where inadequate provision may contribute to the incidence of personal injuries occurring in the home. Qualitative and quantitative data from questionnaires, photometric surveys and faceto- face interviews have been obtained from 57 homes. The nature and extent of the visual impairment of each study participant has been identified. This paper will identify important findings from the study, including: a range of areas and tasks within the home that visually impaired people find inadequately lit; the variability of illuminance provided for task lighting and general lighting; and how effective visually impaired people find a selection different lighting systems to those that they commonly use. The research team are able to offer preliminary design guidance for lighting the homes of people who are visually impaired. These will be summarised in the paper.

How can a blind engineer access the curriculum?

The arrival of a student who is Blind in the School of Systems Engineering at the University of Reading has made it an interesting and challenging year for all. Visually impaired students have already graduated from other Schools of the University and the School of Systems Engineering has seen three students with visual impairment graduate recently with good degrees. These students could access materials - and do assessments - essentially by means of enlargement and judicious choice of options. The new student had previously been supported by a specialist college. She is a proficient typist and also a user of both Braille and JAWS screen reader, and she is doing a joint course in Cybernetics and Computer Science. The course requires mathematics which itself includes graphs, and also many diagrams including numerous circuit diagrams. The University bought proven equipment such as a scanner to process books into speech or Braille, and screen reading software as well as a specialist machine for producing tactile diagrams for educational use. Clearly it is also important that the student can access assessments and examinations and present answers for marking or feedback (by sighted staff). So the School also used innovative in-house tactile methods to represent diagrams. This paper discusses the success or otherwise of various modifications of course delivery and the way forward for the next three years.

Emotional well-being and adjustment to vision loss in later life: a meta-synthesis of qualitative studies.

Purpose: To review perceived emotional well-being in older people with visual impairment and perceived factors that inhibit/facilitate psychosocial adjustment to vision loss. Method: The databases of MEDLINE, EMBASE, PsycINFO and CINAHL were searched for studies published from January 1980 to December 2010, which recruited older people with irreversible vision loss, and used qualitative methods for both data collection and analysis. Results sections of the papers were synthesised using a thematic-style analysis to identify the emergent and dominant themes. Results: Seventeen qualitative papers were included in the review, and five main themes emerged from the synthesis: 1) the trauma of an ophthalmic diagnosis, 2) impact of vision loss on daily life, 3) negative impact of visual impairment on psychosocial well-being, 4) factors that inhibit social well-being, and 5) factors that facilitate psychological well-being. We found the response shift model useful for explaining our synthesis. Conclusions: Acquired visual impairment can have a significant impact on older people's well-being and make psychosocial adjustment to the condition a major challenge. Acceptance of the condition and a positive attitude facilitate successful psychosocial adjustment to vision loss as well as social support from family, friends and peers who have successfully adjusted to the condition. [Box: see text].