A herança autossômica recessiva pode ser responsável por aproximadamente 77% dos casos de surdez hereditária. Em 1996, Chaib e col. mapearam o loco responsável por surdez profunda neurossensorial de herança recessiva na região cromossômica 2p22-23 (DFNB9). Em 1999, Yasunaga e col. identificaram esse gene como o que codifica a proteína OTOFerlina (OTOF) nessa região. Até hoje, já foram descritas 31 mutações patogênicas diferentes no gene OTOF em populações de várias origens, com destaque a mutação Q829X que foi encontrada em ~3% dos casos de surdez na Espanha (Migliosi e col., 2002; Rodríguez-Ballesteros e col., 2003). Alguns pacientes com mutações no gene OTOF apresentavam neuropatia auditiva, um tipo de deficiência auditiva neurossensorial caracterizada pela ausência ou anomalia das ondas no exame dos Potenciais Evocados Auditivos do Tronco Encefálico ou BERA com a presença das emissões otoacústicas e/ou microfonismo coclear. O objetivo desse projeto foi investigar a contribuição relativa das mutações no gene OTOF ao casos de neuropatia auditiva e de outros tipos surdez em famílias brasileiras. Uma amostra de 343 propósitos portadores de deficiência auditiva foi submetida ao estudo da mutação Q829X. Não foi identificada em nenhum caso. Dessa casuística foram selecionados 48 propósitos de famílias com consangüinidade ou com 2 ou mais afetados na irmandade e quatro pacientes com neuropatia auditiva e com consangüinidade parental ou com dois ou mais afetados na irmandade. Além disso, foram também selecionados 7 casos isolados com neuropatia auditiva e 5 casos de portadores de alterações no tronco encefálico. Essa amostra totalizou 64 propósitos. Propósitos dessas 64 famílias foram genotipados em relação a cinco marcadores de microssatélites ligados ao gene OTOF. A análise dos haplótipos excluiu ligação ao gene OTOF em 34 casos, 19 não eram conclusivos e 11 indicaram possibilidade de ligação ao gene OTOF (incluindo uma família com pais consangüíneos e neuropatia auditiva e três propósitos com neuropatia auditiva). Simultaneamente, os 64 propósitos foram triados para mutações em oito exons do gene OTOF, nos quais mutações já haviam sido descritas, por meio de SSCP seguido de seqüenciamento. Os 11 casos com resultados compatíveis com ligação ao gene OTOF (4 com neuropatia auditiva) e os sete casos de neuropatia auditiva foram selecionados para o seqüenciamento de todos os exons (total de 18 propósitos). Identificamos no total 58 alterações diferentes. Onze variantes eram potencialmentes patogênicas, encontradas em sete dos propósitos, todos pertencentes ao grupo dos 18 selecionados. Quatro casos eram heterozigotos compostos [98G>A (R33Q) e 2401G>T e 2402A>T (E801L)]; [1841G>A (G614E) e 3239G>C (R1080P)], [3751T>G (C1251G) e 5431A>T (K1811X)] e [2348delG (G783fs) e 5800-5801insC (L1934fs)], dois eram heterozigotos [1552-1567del16 (R518fs); 2905- 2923del19ins11 (A969fs)] sem que uma segunda mutação fosse detectada e um apresentava a mutação em homozigose [3400C>T (R1134X)]. Desses sete propósitos com mutações patogênicas, somente um paciente com mutação em heterozigose não apresentava neuropatia auditiva. Dentre os 11 casos com neuropatia auditiva, seis tinham pelo menos uma mutação no gene OTOF que poderia ser a causa de surdez. Esse achado reforça a associação entre o fenótipo da neuropatia auditiva e mutações no gene OTOF. A variante Q829X não foi encontrada nenhuma vez em nossa amostra, portanto, não deve ser causa importante de surdez na nossa população. Porém, nosso estudo mostra que mutações no gene OTOF são causas freqüentes de neuropatia auditiva no Brasil (mais de 50% dos casos). Nossos resultados reforçam a hipótese que pacientes com neuropatia auditiva devem ser selecionados para pesquisa de mutações no gene OTOF e que talvez mais de 50% dos casos de neuropatia auditiva tenham causa genética. / 77% of nonsyndromic prelingual deafness have an autosomal recessive inheritance. In 1996, Chaib et al. mapped a locus associated with sensorineural nonsyndromic recessive deafness to chromosome region 2p22-23 (DFNB9) by linkage studies. In 1999, Yasunaga et al. identified the OTOF gene encoding OTOFerlin, in this region. To date, there are 31 different pathogenic mutations described in the OTOF gene, from populations of variable origins. A Q829X mutation was found at a frequency of ~3% of deafness in Spain (Migliosi e col., 2002; Rodríguez-Ballesteros e col., 2003). Some affected individuals with mutations in the OTOF gene were reported to present auditory neuropathy, a type of deafness characterized by an absent or severely abnormal auditory brainstem response, with preservation of otoacoustic emissions and/or cochlear microphonics. The main purpose of this project was to investigate the relative contribution of OTOF mutations to auditory neuropathy and other type of deafness, amongst Brazilian families. We enrolled 343 Brazilian unrelated subjects with nonsyndromic hearing loss. A specific test for the Q829X mutation was performed first. We failed to find any subjects carrying this mutation. From this group, we selected 48 probands from families with consanguinity or with two or more affected sibs and four probands with diagnosis of auditory neuropathy and from consanguineous unions or with two or more affected sibs. In addition, we selected 7 isolated subjects with auditory neuropathy and 5 cases with diagnosis of brainstem alteration. This gave a total of 64 probands. Subjects from the 64 families were genotyped for five microsatellites markers, linked to the OTOF gene. The analysis of the haplotype excluded linkage to the OTOF gene in 34 families, it was inconclusive in 19 families and it showed compatibility with linkage in the remaining 11 families (including one with consanguineous parents and auditory neuropathy and three with diagnosis of auditory neuropathy). Simultaneously, the 64 subjects were screened for mutations in 8 exons previously identified to other mutations using the SSCP technique. In positive cases, DNA sequencing was carried out. In the 11 subjects consistent with putative linkage to OTOF gene and the 7 isolated cases of auditory neuropathy, an exon by exon screening for mutations in the OTOF gene was performed using DNA sequencing (Total of 18 subjects). We found a total of 58 different variants. Eleven were possibly causative mutations and were found in seven of the 18 subjects. Amongst them, four cases were compound heterozygotes R33Q with E801L, G614E with E1080P, 2348delG with 5800-5801insC and K1811X with C1251G, two cases were heterozygotes [1552- 1567del16 and 2905-2923del19in11] without a second mutation and one presented a mutation in homozygous form [3400C>T (R1134X)]. Among these seven probands, only one patient with a heterozygote mutation did not have a diagnosis of auditory neuropathy. In the 11 cases of auditory neuropathy, six had at least one mutation in the OTOF gene that is the probable cause of their deafness. These findings support the association between auditory neuropathy and mutations in the OTOF gene. While we failed to confirm the high frequency of Q829X mutation found in Spain, our study shows that mutations in the OTOF gene are frequent causes of auditory neuropathy in Brazil (more than 50%). Our results reinforced that patients with auditory neuropathy must be selected for mutation detection in the OTOF gene and that more than 50% of cases of auditory neuropathy have a defined genetic etiology.

Introdução: O declínio cognitivo relacionado à neurocisticercose (NC) ainda permanece mal caracterizado e pouco diagnosticado. Recentemente, nosso grupo mostrou que uma significativa parcela de pacientes com NC na fase cística ativa apresenta-se com declínio cognitivo e comprometimento funcional (Ciampi de Andrade et al., 2010). Não existem estudos controlados que avaliem essas alterações em pacientes com NC na fase calcificada na literatura até presente momento. Objetivos: Avaliar o desempenho cognitivo do maior subgrupo de NC, constituído de pacientes com NC na fase estritamente calcificada (C-NC). Verificar a presença de demência e comprometimento cognitivo sem demência (CCSD) nesses pacientes e tentar correlacionar os resultados obtidos a achados de neuroimagem. Investigar se existe presença de um espectro de anormalidade cognitiva na NC conforme a fase da doença. Metódos e Casuística: Quarenta pacientes (média de idade = 37,6+ 11,3 anos e escolaridade média= 7,0+ 3,5 anos), com critérios diagnósticos absolutos de C-NC foram submetidos à avaliação cognitiva e funcional, sendo comparados a 40 pacientes controles saudáveis (CS) e 40 pacientes com NC ativa (A-NC), emparelhados por idade e nível educacional. Todos os pacientes do grupo C-NC foram submetidos a estudo de RM de encéfalo, a fim de excluir outras causas de epilepsia e sinais de atividade inflamatória. Resultados: Os doentes C-NC apresentaram uma média de 9,40 ± 3,13 testes alterados dos 30 da bateria de avaliação cognitiva quando comparados aos CS. Nenhum paciente C-NC mostrou critérios para demência e 10 (25%) tiveram critérios para CCSD. O grupo ANC tinha 5 pacientes (12,5%) com demência e 11 (27,5%) com CCSD. Mais de 50% dos doentes C-NC apresentaram desempenho inferior em memória verbal, atenção e função executiva em comparação aos CS. Não se encontrou correlação entre as alterações nos testes cognitivos nos pacientes C-NC e A-NC e os achados de neuroimagem e a frequência de crises epilépticas. Dos 4 pacientes reavaliados com demência do grupo A-NC após 2 anos, 3 deles ainda mantinham critérios de demência e na reavaliação por neuroimagem ainda apresentavam cistos. O único que não mais preenchia critérios para demência ou CCSD, exibia apenas calcificações na neuroimagem controle. Conclusões: Os resultados do presente estudo controlado indicaram que a NC independente de sua fase leva a um espectro de alterações cognitivas que varia de comprometimento em um simples domínio, CCSD até, ocasionalmente, demência. Estes achados parecem ser mais intensos durante a fase ativa cística da doença e menos proeminentes no estágio calcificado / Introduction: Cognitive decline related to neurocysticercosis (NC) remains poorly characterized and underdiagnosed. We have previously shown that a significant proportion of active NC patients (A-NC) present cognitive and functional impairment. Until now, there is no control study that have evaluated cognitive abnormalities in patients in the calcified phase of NC. Objective: To evaluate the cognitive performance of the largest subgroup of NC, the strict calcified patients (C-NC). Check the presence of dementia and cognitive impairment no-dementia (CIND) and correlate the results with neuroimaging findings. To investigate whether there is a spectrum of cognitive abnormalities in the disease according to disease phase. Methods and participants: Forty treatment-naive patients with C-NC aged 37.6 ± 11.3 years and fulfilling absolute criteria for definitive C-NC were submitted to a comprehensive cognitive and functional evaluation and were compared with 40 active NC patients (A-NC) and 40 healthy controls (HC) matched for age and education. All patients of C-NC group underwent brain MRI study in order to exclude other causes of epilepsy and signs of inflammatory activity. Results: Patients with C-NC presented 9.4 ± 3.1 altered test scores out of the 30 from the cognitive battery when compared to HC. No C-NC patient had dementia and 10 patients (25%) presented CIND. The A-NCYST group had five patients (12.5%) with dementia and 11 patients (27.5%) with CIND. More than 50% of C-NC patients had low performance in verbal memory, attention and executive functions in comparison to CS. No significant correlation was found between cognitive performance and the number of lesions and seizure frequency. On follow-up, three out of five previously demented A-NCYST patients still presented cystic lesions with scolex on MRI and were still demented. One patient died and the remaining patient no longer fulfilled criteria for neither dementia nor CIND, presenting exclusively calcified lesions on neuroimaging. Conclusion: The results of our controlled study shows that NC, independently of its phase, leads to a spectrum of cognitive abnormalities, ranging from impairment in a single domain, to CIND and, occasionally, to dementia. These findings are more conspicuous during active vesicular phase and less prominent in calcified stages

O antagonismo entre luz e sombra, perpétuo e efêmero, visível e invisível estabelece todo um corpo imagético ao redor da existência humana concebida frente a deficiência visual, e mais especialmente, diante da cegueira: este corpo privado da visão é protagonista de um percurso doloroso, compassivo e até privilegiado (em alguns momentos) de descoberta e assunção de um mundo que escapa a compreensão convencional. Neste sentido, a cegueira é uma realidade revelada no convívio com o outro e consigo mesmo, uma enunciação que abrange aspectos interiores e exteriores, um mundo cujo o discurso se entrecruza com as vozes que emanam de diversos campos do conhecimento. Desta forma, o presente estudo se tece estruturalmente em torno desse corpo-núcleo que é a imagem/representação do cego, revelada pelas diferentes formas de relacionamento que a cegueira, enquanto protagonista, estabelece com o mundo, com o corpo que habita, com conhecimento humano para tanto isolar-se-á e analizar-se-á as diversas imagens produzidas em torno deste conceito, as quais confrontar-se-á com as percepções e imagens vistas por quem de fato é cego. / The antagonism between light and shadow, perpetual and ephemeral, visible and invisible founds a whole body imagery designed around the human existence against visual impairment, and most especially, in the face of blindness: this body deprived of vision is the protagonist of a painful, compassionate and even privileged (at times) process of discovery and assumption of a world that escapes conventional understanding. In this sense, blindness is a reality revealed in the interaction with others and with itself, an utterance that covers interior and exterior aspects, and a world whose discourse intersects with the voices emanating from various fields of knowledge. Therefore, the present study weaves structurally around this type of body that is the image of the blind revealed by different kinds of relationships that blindness as protagonist, establishes with the world, with the body it inhabits, with human knowledge such an analysis is based on the various images produced around this concept, which will be confronted with the perceptions and images seen by someone who is truly blind.

Studier visar att sexuell hälsa upplevs som ett relevant arbetsområde inom arbetsterapi men i nuläget är det många arbetsterapeuter som utesluter ämnet i sitt dagliga arbete, även inom habilitering. Syfte: Syftet med studien var att beskriva i vilken utsträckning arbetsterapeuter inom ungdoms- och vuxenhabilitering i Sverige arbetar med sexuell hälsa samt deras uppfattning om ämnet. Metod: En kvantitativ enkätstudie där deltagarna rekryterades genom ett icke slumpmässigt bekvämlighetsurval. Undersökningen bestod av 71 arbetsterapeuter som arbetar inom ungdoms- och vuxenhabilitering i Sverige. Data analyserades i statistikprogrammet IBM SPSS Statistics. Resultat: 53 deltagare hade aldrig utfört någon intervention relaterat till sexuell hälsa. 35 hade tagit upp ämnet med en patient någon/några gånger per år. 38 uppgav att deras patienter aldrig hade tagit upp ämnet med dem. 37 instämde delvis att de är bekväma med att ta upp frågor gällande ämnet. 55 ansåg att de inte har tillräckligt med kunskap för att kunna arbeta med ämnet. 42 ansåg att sexuell hälsa är en del av deras arbetsområde. Slutsats: Arbetsterapeuter inom habilitering är i behov av mer kunskap och verktyg för att kunna arbeta med ämnet på ett professionellt och tryggt sätt. Arbetsterapeuter har kompetens att arbeta med ämnet vilket kan ge patienterna möjligheten till en god sexuell hälsa. Genom tydligare riktlinjer på arbetsplatsen, mer undervisning i grundutbildningen samt utbildning via verksamheten kan arbetet för den sexuella hälsan gynnas för patienterna. / Studies indicate that sexual health is seen as a relevant work area within occupational therapy but it’s currently several occupational therapists that excludes the topic in their daily work, also within habilitation. Purpose: The purpose with this study was to describe the extent to which occupational therapists within youth and adult habilitation in Sweden work with sexual health and what opinion they have about the topic. Method: A quantitative survey where the participants were recruited through a non-probability convenience sampling. The survey consisted of 71 occupational therapists who works within youth and adult habilitation in Sweden. Data was analyzed in the statistical program IBM SPSS Statistics. Results: 53 participants had never implemented any intervention related to sexual health. 35 had addressed the topic with a patient some/a few times per year. 38 stated that their patients never had addressed the topic with them. 37 partly concurred that they were comfortable with addressing questions regarding the topic. 55 considered that they did not have enough knowledge in order to work with the topic 42 considered sexual health as a part of their work area. Conclusion: Occupational therapists within habilitation need more knowledge and tools to be able to work with the topic professionally and safely. Occupational therapists have competence to work with the topic which can give patients the ability to have a good sexual health. By implementing guidelines, more training in basic education and education in the workplace, the work with sexual health can improve for the patients.

A educação em saúde odontológica depende da comunicação, que garanta de fato o conhecimento e adoção das medidas preventivas no cotidiano das crianças, sendo de extrema importância quando se deseja mudar atitudes em relação á doença, priorizando a promoção de saúde. Os programas educativos estão previstos na Política Nacional de Saúde Bucal e devem contemplar o acesso universal a todos os cidadãos. Neste contexto é necessário reconhecer o preparo dos profissionais de odontologia quanto às práticas de comunicação e informação utilizadas para desenvolver hábitos adequados de manutenção da saúde bucal com pacientes com perda de audição.A perda auditiva é um déficit sensorial muito comum e causa grande desvantagem de comunicação. A falta de comunicação leva á desigualdades no acesso á saúde e o desconhecimento sobre cuidados com a saúde bucal representa um fator a ser considerado. Este estudo se propôs a avaliar o conhecimento sobre saúde bucal de pais e professores em escolas especiais de educação para crianças surdas que se comunicam através da Língua Brasileira de Sinais (Libras), e o conhecimento de cirurgiões-dentistas sobre as questões relacionadas ás estratégias de comunicação com pacientes surdos. A conclusão deste estudo enfatiza a necessidade de programas educativos que contemplem ás especificidades de uma criança surda através de parcerias estabelecidas entre a escola, pais e o cirurgião-dentista, para garantir uma comunicação efetiva e a aquisição do conhecimento sobre saúde bucal. / Oral health education depends on communication that can indeed ensure understanding and adoption of preventive measures on the day-to-day of children, and it is extremely important to change attitudes in relation to diseases, prioritizing the promotion of health. Educational programs are included in the National Oral Health Policy and should focus on universal access to all citizens. In this context, it is necessary to recognize how dental professionals are prepared in the practices of communication and information used to develop suitable habits to maintain the oral health of patients with hearing loss. Hearing loss is a very common sensorial deficit and causes major impairment to communication. Lack of communication leads to inequalities in access to health and unawareness about oral health can be a factor to be considered. This study aimed at assessing the knowledge of parents and teachers about oral health in special schools of education for deaf children that communicate in Libras (Brazilian Sign Language), and dentists understanding of issues related to communication strategies with deaf patients. The conclusion of this study emphasizes the need for educational programs that can contemplate the specificities of a deaf child by means of partnerships established between the school, parents and dentists, so as to ensure effective communication and the acquisition of knowledge on oral health.

O Questionário de Função Visual Infantil (QFVI) é um instrumento para medir o impacto da deficiência visual na criança e em seus familiares. Pode ser utilizado como ferramenta para pesquisas, verificação da eficácia de tratamentos e de diferentes terapêuticas aplicadas, além de auxiliar métodos que intervenham com melhor eficiência, como habilitação e reabilitação visual. O objetivo deste trabalho é estudar a relação entre os domínios Saúde Geral, Saúde Geral da Visão, Competência, Personalidade, Impacto familiar e Tratamento, que compõem o QFVI, e as medidas psicofísicas de acuidade visual (AV) e discriminação de cromaticidade (VC). Este estudo prospectivo, transversal foi realizado no Laboratório de Psicofisiologia Sensorial da Universidade de São Paulo em parceria com o Ambulatório de Estimulação Visual Precoce Setor de Baixa Visão e Reabilitação Visual da Universidade Federal de São Paulo. As crianças convidadas a participarem deste estudo foram alocadas em 2 grupos: Grupo estudo (GE) composto por 32 crianças, com o diagnóstico de deficiência visual, com idade média de 30 meses (dp= 22,3); Grupo controle (GC) composto por 21 crianças, com visão normal e idade média de 34 meses (dp= 26,8). Esses grupos foram submetidos a aplicação do QFVI, e em seguida as avaliações de medida de AV através do teste de Cartões de Acuidade de Teller (CAT), e VC pelo programa Cambridge Colour Test para crianças (CCT Kids). O resultado da aplicação do QFVI, para os grupos de crianças menores de 3 anos, comparados entre os GE e GC, mostrou diferenças significantes entre os seguintes domínios: Saúde Geral da visão (F=24,07 e p<0,001); Competência (F=73,00 e p<0,001); Personalidade (F=10,21 e p=0,010); Impacto Familiar (F=35,30 e p<0,001); Total da qualidade de vida (F=64,06 e p<0,001). No teste de AV pelo CAT, nos grupos de crianças menores de 3 anos, comparados entre os GE e GC, foram observadas diferenças entre: AV de olho direito (OD) (F=12,86 e p<0,001); AV de olho esquerdo (OE) (F=11,09 e p<0,001); AV de ambos os olhos (AO) (F=16,27 e p<0,001). Estas diferenças mostram uma pior pontuação para o GE. Na VC medidos pelo CCT kids, os dados coletados nos grupos de crianças menores de 3 anos, comparados entre os GE e GC, não foram observadas diferenças estatisticamente significativas para os grupos Protan, Tritan, e Deutan para AO. Na aplicação do QFVI, os dados coletados nos grupos de crianças maiores de 3 anos, comparados entre os GE e GC, foram observadas diferenças entre os seguintes domínios: Saúde Geral da visão (F=10,00 e p<0,001); Competência (F=7,03 e p=0,030); Personalidade (F=6,48 e p=0,010); Total da qualidade de vida (F=11,39 e p=0,010). Estas diferenças mostram uma pior pontuação para o GE. No teste de AV pelo CAT, os dados coletados nos grupos de crianças maiores de 3 anos, comparados entre os GE e GC, foram observadas diferenças entre: AV de OD (F=19,25 e p<0,001); AV de OE (F=25,99 e p<0,001); AV de AO (F=15,45 e p<0,001). Estas diferenças mostram uma pior pontuação para o GE. No teste de VC pelo CCT kids, os dados coletados nos grupos de crianças maiores de 3 anos, comparados entre os GE e GC, não foram observadas diferenças estatisticamente significativas para os grupos Protan, Tritan, e ou Deutan. Para o GE, de crianças menores de 3 anos, a correlação negativa entre as funções visuais e o QFVI, está presente entre as seguintes variáveis: Saúde geral da visão e competência. Já para as crianças maiores de 3 anos: Saúde geral da visão, competência, impacto familiar e total da qualidade de vida. Nós concluímos que existem diferenças estatisticamente significativas quando comparados os GE e GC para as funções de acuidade visual e discriminação de cromaticidade, evidenciando a correlação no uso do QFVI e as funções de AV e VC / The Children\'s Visual Function Questionnaire (CVFQ) is an instrument to measure the impact of visual impairment in children and their families. It can be used as a research tool to verify the effectiveness of treatment, therapy and different methods for the visual stimulation and rehabilitation. The aim of this study is to describe the relationship between General Health, General Vision Health, Personality, Family Impact and Treatment subscales of the CVFQ, and psychophysical measures of visual acuity (VA) and chromaticity discrimination (CV). This prospective, cross-sectional study was conducted at the Sensory Psychophysiology Laboratory - University of São Paulo in partnership with the Ambulatory of Visual Stimulation in Sector of Low Vision and Visual Rehabilitation - Federal University of São Paulo. The children who participated in this study were divided into two groups: study group (SG) composed of 32 children with a diagnosis of visual impairment, mean age of 30 months (sd = 22.3); Control group (CG) consisted of 21 children with normal vision and mean age of 34 months (sd = 26.8). Both groups underwent the application of CVFQ, were tested for VA using the Teller Acuity Cards (TAC) test, and CV by the Cambridge Colour Test program for children (Kids CCT). The result of applying the CVFQ to groups of children under three years, when comparing SG and CG, showed significant differences in the following subscales: General Vision Health (F = 24.07, p <0.001); Competence (F = 73.00, p <0.001); Personality (F = 10.21, p = 0.010); Family Impact (F = 35.30, p <0.001); Total quality of life (F = 64.06, p <0.001). In the VA test by the TAC in groups of children under three years, comparing SG with CG, differences were observed in VA right eye (RE) (F = 12.86, p <0.001); VA left eye (LE) (F = 11.09, p <0.001); VA both eyes (BE) (F = 16.27, p <0.001). These differences show a worse score for the SG. In the CV measured by Kids CCT, the data collected in groups of children under three years, comparing SG and CG, no statistically significant differences for protan, tritan and deutan groups were observed for BE. In applying the CVFQ, the data collected from groups of children over three years, comparing SG and CG, differences were observed in the following subscales: General Vision Health (F = 10.00, p <0.001); Competence (F = 7.03, p = 0.030); Personality (F = 6.48, p = 0.010); Total quality of life (F = 11.39, p = 0.010). These differences show a worse score for the SG. In the VA test by the TAC, the data collected in groups of children over three years, comparing SG and CG, differences were observed in: VA RE (F = 19.25, p <0.001); VA LE (F = 25.99, p <0.001); VA BE (F = 15.45, p <0.001). These differences show worse score for the SG. In the CV by Kids CCT, the data collected in groups of children over three years, comparing SG and CG, no statistically significant differences for protan, tritan and deutan groups were observed. For the SG, children under three years, a negative correlation between the visual functions and the CVFQ was present for the following variables: General Vision Health and Competence, while for children over three years, correlations were found for General Vision Health, Competence, Family Impact and General Quality of Life. We conclude that there are statistically significant differences when comparing the SG with the CG for the visual function of VA and CV, and we also demonstrated the sensitivity in the use of CVFQ in reflect VA and CV impairments

Submitted by Cristiane Chim (cristiane.chim@ucpel.edu.br) on 2016-08-01T12:24:32Z No. of bitstreams: 1 amanda reyesvolume final - 23-07-15.pdf: 348695 bytes, checksum: 2ee5f76444cb295f170acae0bec93565 (MD5) / Made available in DSpace on 2016-08-01T12:24:32Z (GMT). No. of bitstreams: 1 amanda reyesvolume final - 23-07-15.pdf: 348695 bytes, checksum: 2ee5f76444cb295f170acae0bec93565 (MD5) Previous issue date: 2014-11-25 / . / Objetivo Geral • Comparar o desempenho cognitivo e o funcionamento global entre adultos jovens com e sem o diagnóstico de Transtorno Bipolar, bem como correlacionar estas medidas nos sujeitos com Transtorno Bipolar. 2.2 Objetivos Específicos • Comparar o funcionamento global de adultos jovens com e sem diagnóstico de TB; • Comparar o desempenho cognitivo de adultos jovens com e sem diagnóstico de TB; • Correlacionar o desempenho cognitivo e o funcionamento em uma amostra populacional de adultos jovens; • Correlacionar o desempenho cognitivo e o funcionamento nos adultos jovens com Transtorno Bipolar; • Correlacionar a severidade dos sintomas maníacos e depressivos com o desempenho cognitivo e o funcionamento dos jovens com TB.

Background: It is now well established that there are core cognitive impairments associated with a diagnosis of schizophrenia. In parallel with our increased understanding of these core deficits, our awareness that mentally ill offenders (MIOs) are at additional risk of cognitive impairment due to an increased rate of traumatic brain injury and substance abuse has also grown. Absent from the literature is evidence of whether these cognitive impairments change over longer periods of time in MIO’s and whether these changes, or baseline abilities, impact an individual’s risk of violence. Furthermore, the negative impact head injury has on an individuals’ cognitive, behavioural and psychological functioning is well documented. These changes can lead to an increased likelihood of violence and crime, yet there is currently a scarcity of knowledge regarding the prevalence of head injury within mentally ill offenders in Scotland and its association with risk-related outcomes. Aims: The aims of the present thesis were to; (a) Examine the course of cognition in N=49 mentally ill offenders who underwent neuropsychological assessment while in the State Hospital, Scotland in 2004-5, and assess whether baseline or change in cognition predicts violent incidents or risk at follow-up, and; (b) Examine the cross-sectional association between head injury, substance abuse and risk-related outcomes of all individuals within the forensic network in Scotland for whom data could be extracted (N=428). Hypotheses: (a) We hypothesized that processing speed, verbal comprehension, working memory, delayed verbal memory, delayed non-verbal memory, impulsivity, inattention and problem-solving would decline over a 10-year period, and that deficits in impulsivity, emotion recognition, working memory and delayed memory would predict patients’ risk-related outcomes in a sample of mentally ill offenders. (b) It was also hypothesized that the presence of head injury and/or substance abuse within patients would predict worse risk-related outcomes, namely: quantity of violent offences, risk of harm to self, risk of harm to others and severity of violent offences. Analysis: We conducted a series of repeated measures MANOVAs, MANCOVAs and hierarchical linear regressions in SPSS Statistics to test our hypotheses. Individuals with a primary or secondary diagnosis of a learning disability were excluded. Results: (a) Our results propose that cognitive abilities significantly change over time (F(1.51, 30.1) = 5.98, p = .011), but direction of change is ability dependent. We found that impulsivity (Effect Size (ES) = .253), inattention (ES = .233), working memory (ES = .288) and auditory delayed memory (ES= .268) worsen over time. Measures of impulsivity and working memory significantly predicted some, but not all, risk-related outcomes, however these effects became diluted once additional variables with shared variance were added into the predictive models. We did not find that traumatic brain injury, substance misuse or alcohol misuse significantly mediated change in cognition over time. (b) In the national cohort study, results suggested that head injury had a significant effect on HCR total scores, F(1,259) = 6.679, p = .010 (partial eta square = .025), violence during admission (χ2 = 5.545, p = .022) and violent offences at a .1 p-value only, F(1,259) = 3.495, p = .063 (partial eta square = .013). Drug misuse only had a significant impact on total violent offences, F(1,259) = 8.933, p = .003 (partial eta square = .033) and nothing else. Furthermore, the interaction between alcohol misuse and schizophrenia also only had impact on total violent offences, F(1, 259) = 7.516, p = .007 (partial eta square = .028). Head injury was not significantly associated with either historical or current self-harm, however alcohol misuse, drug misuse and schizophrenia were. Conclusions: Our results highlight the unstable nature of cognition in mentally ill offenders and the impact that head injury has on violence-related outcomes, over and above substance misuse and a diagnosis of schizophrenia. This has potentially renovating implications for clinical practice regarding risk management, assessment, and treatment planning.

En dépit de leur omniprésence et de leur rôle essentiel dans nos vies professionnelles et personnelles, les représentations graphiques, qu'elles soient numériques ou sur papier, ne sont pas accessibles aux personnes déficientes visuelles car elles ne fournissent pas d'informations tactiles. Par ailleurs, les inégalités d'accès à ces représentations ne cessent de s'accroître ; grâce au développement de représentations graphiques dynamiques et disponibles en ligne, les personnes voyantes peuvent non seulement accéder à de grandes quantités de données, mais aussi interagir avec ces données par le biais de fonctionnalités avancées (changement d'échelle, sélection des données à afficher, etc.). En revanche, pour les personnes déficientes visuelles, les techniques actuellement utilisées pour rendre accessibles les cartes et les diagrammes nécessitent l'intervention de spécialistes et ne permettent pas la création de représentations interactives. Cependant, les récentes avancées dans le domaine de l'adaptation automatique de contenus laissent entrevoir, dans les prochaines années, une augmentation de la quantité de contenus adaptés. Cette augmentation doit aller de pair avec le développement de dispositifs utilisables et abordables en mesure de supporter l'affichage de représentations interactives et rapidement modifiables, tout en étant accessibles aux personnes déficientes visuelles. Certains prototypes de recherche s'appuient sur une représentation numérique seulement : ils peuvent être instantanément modifiés mais ne fournissent que très peu de retour tactile, ce qui rend leur exploration complexe d'un point de vue cognitif et impose de fortes contraintes sur le contenu. D'autres prototypes s'appuient sur une représentation numérique et physique : bien qu'ils puissent être explorés tactilement, ce qui est un réel avantage, ils nécessitent un support tactile qui empêche toute modification rapide. Quant aux dispositifs similaires à des tablettes Braille, mais avec des milliers de picots, leur coût est prohibitif. L'objectif de cette thèse est de pallier les limitations de ces approches en étudiant comment développer des cartes et diagrammes interactifs physiques, modifiables et abordables. Pour cela, nous nous appuyons sur un type d'interface qui a rarement été étudié pour des utilisateurs déficients visuels : les interfaces tangibles, et plus particulièrement les interfaces tangibles sur table. Dans ces interfaces, des objets physiques représentent des informations numériques et peuvent être manipulés par l'utilisateur pour interagir avec le système, ou par le système lui-même pour refléter un changement du modèle numérique - on parle alors d'interfaces tangibles sur tables animées, ou actuated. Grâce à la conception, au développement et à l'évaluation de trois interfaces tangibles sur table (les Tangible Reels, la Tangible Box et BotMap), nous proposons un ensemble de solutions techniques répondant aux spécificités des interfaces tangibles pour des personnes déficientes visuelles, ainsi que de nouvelles techniques d'interaction non-visuelles, notamment pour la reconstruction d'une carte ou d'un diagramme et l'exploration de cartes de type " Pan & Zoom ". D'un point de vue théorique, nous proposons aussi une nouvelle classification pour les dispositifs interactifs accessibles. / Despite their omnipresence and essential role in our everyday lives, online and printed graphical representations are inaccessible to visually impaired people because they cannot be explored using the sense of touch. The gap between sighted and visually impaired people's access to graphical representations is constantly growing due to the increasing development and availability of online and dynamic representations that not only give sighted people the opportunity to access large amounts of data, but also to interact with them using advanced functionalities such as panning, zooming and filtering. In contrast, the techniques currently used to make maps and diagrams accessible to visually impaired people require the intervention of tactile graphics specialists and result in non-interactive tactile representations. However, based on recent advances in the automatic production of content, we can expect in the coming years a growth in the availability of adapted content, which must go hand-in-hand with the development of affordable and usable devices. In particular, these devices should make full use of visually impaired users' perceptual capacities and support the display of interactive and updatable representations. A number of research prototypes have already been developed. Some rely on digital representation only, and although they have the great advantage of being instantly updatable, they provide very limited tactile feedback, which makes their exploration cognitively demanding and imposes heavy restrictions on content. On the other hand, most prototypes that rely on digital and physical representations allow for a two-handed exploration that is both natural and efficient at retrieving and encoding spatial information, but they are physically limited by the use of a tactile overlay, making them impossible to update. Other alternatives are either extremely expensive (e.g. braille tablets) or offer a slow and limited way to update the representation (e.g. maps that are 3D-printed based on users' inputs). In this thesis, we propose to bridge the gap between these two approaches by investigating how to develop physical interactive maps and diagrams that support two-handed exploration, while at the same time being updatable and affordable. To do so, we build on previous research on Tangible User Interfaces (TUI) and particularly on (actuated) tabletop TUIs, two fields of research that have surprisingly received very little interest concerning visually impaired users. Based on the design, implementation and evaluation of three tabletop TUIs (the Tangible Reels, the Tangible Box and BotMap), we propose innovative non-visual interaction techniques and technical solutions that will hopefully serve as a basis for the design of future TUIs for visually impaired users, and encourage their development and use. We investigate how tangible maps and diagrams can support various tasks, ranging from the (re)construction of diagrams to the exploration of maps by panning and zooming. From a theoretical perspective we contribute to the research on accessible graphical representations by highlighting how research on maps can feed research on diagrams and vice-versa. We also propose a classification and comparison of existing prototypes to deliver a structured overview of current research.

A atenção conjunta é considerada, na literatura específica, como sendo uma habilidade fundamental do bebê para que este possa, a partir dela, estabelecer um conjunto de dimensões básicas no seu desenvolvimento cognitivo, social e afetivo. A atenção conjunta se refere a comportamentos como olhar na direção do olhar do outro, observar a face, a intenção e os interesses do outro, mostrar e compartilhar interativamente objetos com outros. Episódios de atenção conjunta, portanto, podem quase ser denominados de episódios de atenção visual conjunta. Esta capacidade, como dado eminentemente visual, tem sido considerada como crucialmente importante para o desenvolvimento da capacidade interativa do bebê, sendo indispensável para que este se socialize. Entretanto, ao se pensar estes processos em crianças cegas ou com deficiência visual severa, depara-se com a pouca quantidade de informação disponível em dados de pesquisas. Assim, a meta desta pesquisa foi investigar se ocorreu e como ocorreu a construção, o estabelecimento e a manutenção do processo de atenção conjunta em um bebê vidente e um bebê com deficiência visual severa, ambos em interação com os parceiros em seu entorno. Para tal, partiu-se da verificação de quais pistas sensoriais o bebê ou os parceiros circundantes se utilizam nas interações (se pistas visuais, táteis, vestibulares, auditivas, cinestésicas, olfativas ou gustativas) para iniciar, estabelecer e manter a atenção conjunta. Utilizou-se de estudo de casos múltiplos-exploratórios, envolvendo um bebê com deficiência visual severa e sua família vidente, fazendo-se um contraponto com um bebê vidente em uma família também vidente. O contraponto se mostrou importante para dar visibilidade a recursos e aspectos específicos do processo, e também preservar as características dos ambientes em que os bebês e suas famílias se encontram. A perspectiva sócio-interacionista permitiu a compreensão dos processos desenvolvimentais que ocorrem nestas situações. A construção do corpus se deu através de videogravações, posteriormente recortadas de acordo com sua relevância para a verificação da meta proposta, sendo as cenas selecionadas transcritas. Para a análise destes recortes considerou-se a abordagem microgenética, com aporte metodológico da Rede de Significações funcionando como proposta privilegiada e possibilitadora da compreensão da complexidade dos processos. Como resultados, verificou-se que para o bebê vidente, os dados encontrados confirmam o que a literatura específica indica como sendo o percurso típico para a construção da atenção conjunta. Para o bebê com deficiência visual severa, nota-se também, a partir de outras pistas que não as visuais, o estabelecimento e a manutenção do processo de atenção conjunta. Sugerem-se, entretanto, mais pesquisas a respeito destas questões, não só para se buscar mais dados a partir de outros bebês videntes e também com as mesmas características sensoriais diferenciadas da cegueira ou da deficiência visual severa, como também para contribuir com a construção de novos dados teóricos a respeito do tema. / Joint attention is considered, in specific literature, as a fundamental skill of the baby. Through this ability, the baby sets up a group of basic dimensions in his cognitive, social and affective development. Joint attention refers to behaviors like looking in the direction of someone else\'s gaze, observe the face, the intent and the interests of the other, pointing out and sharing objects interactively with other. Joint attention episodes, therefore, can almost be called joint visual attention episodes. This ability, basically as a visual fact, has been considered as crucially important for the development of the interactive capabilities of the baby, becoming essential for his socialization. However, there is few survey data about joint attention in severe visual impairment or blind children. Therefore, this research aims to investigate if occurs and how occurs the construction, establishment and maintenance of joint attention process in a seer baby, and in a severe visual impairment baby, both in interaction with surrounding partners. This work is intended to check what sensorial cues are being used, by the baby or by the surrounding partners, in their interactions (whether visual, tactile, vestibular, auditory, kinesthetic, olfactory or gustatory) to initiate, establish and maintain joint attention. It was choosen the methodology Exploratory Multiple Case Study, involving a severe visual impairment baby and its seer family, as a counterpoint to a seer baby and its seer family. This approach offered additional visibility to some specific aspects in joint attention, and, in addition, to preserving surrounding characters in which babies and their families are involved. The Social-Interactionist Perspective allowed the understanding of such developmental processes. Corpus Construction were captured on digital video recordings, subsequently prepared accordingly to the work goal and its relevancy. The selected scenes were transcribed. For the analysis of these clippings was considered a microgenetic approach. The Network of Meanings sustained the comprehension of joint attention processes and offers methodological support. As an outcome for the seer baby, this work endorses what specific literature indicates for the establishment of joint attention in a typical development child. For this baby with severe visual impairment, it was observed establishment and maintenance of joint attention process, from non visual sensory cues. However, it suggests more research on these issues to generate new contribuitions over the theme joint attention, not only to seer babies, but also to severe visual impairment babies. These future works might contribute to build new theoretical data on joint attention, in typical or even atypical sensorial conditions of development.