The purpose of the master's thesis is to describe and critically evaluate the learning aids, nowadays used to assist primary school children with specific learning disabilities (dyslexia, dysgraphia and dysorthographia) and eventually propose its possible improvements. The results of the research part are based on theoretical methodology and literature. In addition, some of the selected learning aids were tested on a small sample of pupils. To fulfill such goals, it was crucial to get oriented on the field of current tool portfolio for the pupils with given specific learning disabilities through relevant institutions, questionnaires and analysis of the tool market situation. The review and evaluation of the learning aids was finally done based on the outcome of the thesis research part.

INTRODUÇÃO: atualmente, inúmeras pesquisas tentam explicar quais são as causas dos transtornos de leitura. Pesquisas já mostraram que habilidades fonológicas estão estritamente relacionadas ao bom desempenho das crianças durante a fase de alfabetização. Mas a grande pergunta, ainda existente, é o que há por trás das dificuldades envolvendo esta habilidade. Uma das hipóteses seria um déficit envolvendo o processamento temporal auditivo. OBJETIVOS: caracterizar o desempenho de crianças com transtornos de leitura, em testes envolvendo processamento temporal auditivo, e a consciência fonológica, através da comparação com o grupo controle. MÉTODO: foram avaliadas 60 crianças de 9 a 12 anos, sendo 27 pertencentes ao grupo controle e 33 ao grupo estudo. Foi desenvolvida e aplicada uma adaptação do teste americano “Repetition Test", contendo quatro testes de discriminação e de ordenação de frequência, e quatro testes de discriminação e de ordenação de duração. RESULTADOS: crianças com transtornos de leitura apresentaram diferenças significantes, quando comparados ao grupo controle, em testes relacionados à leitura, consciência fonológica e processamento temporal auditivo. Além disso, nos testes envolvendo frequência, as variáveis duração do estímulo e tipo de tarefa, mostraram-se mais sensíveis ao grupo estudo. Foi encontrada correlação apenas para os desempenhos nos testes de leitura e consciência fonológica, para ambos os grupos. CONCLUSÃO: As crianças com transtornos de leitura apresentaram pior desempenho, se comparadas ao grupo controle, para todos os testes apresentados. Não se pode afirmar que exista relação direta entre o pobre desempenho nos testes de processamento temporal auditivo e nas habilidades de consciência fonológica, ou mesmo, na leitura. / INTRODUCTION: nowadays, several researches strive to explain which are the causes of reading disorders. Some of them already show that phonological abilities are strictly related to the children’s good performance during the alphabetisation phase. However, the great existing question is what is behind the difficulties involving this ability. One of the hypothesis would be a deficit involving the auditory temporal processing. AIM: to characterise the performance of children with reading disorders in auditory temporal processing and in phonological awareness tests, comparing to a control group. METHOD: 60 children from 9 to 12 years of age were evaluated; 27 belonged to the control group and 33, to the study group. An adaptation of the American test “Repetition Test" was developed, comprising four tests of frequency discrimination and ordering and four tests of duration discrimination and ordering. RESULTS: children with reading disorders presented significant differences when compared to the control group regarding the phonological awareness and the auditory temporal processing tests. Furthermore, the variables stimuli duration and type of task were more sensitive in the study group, for tests involving frequency. A correlation was found only between the performances in the reading and the phonological awareness tests for both groups. CONCLUSION: Children with reading disorders present worse performance when compared to the control group for all tests. It can not be affirmed that there is a direct relation between the poor performance in the auditory temporal processing tests and the phonological awareness abilities, or even reading.

A presente dissertação é resultado da pesquisa que teve como objetivo principal investigar as representações de professores do Ensino Fundamental I, tanto da rede privada quanto da pública, sobre Dislexia e como estas representações norteiam suas práticas. Buscamos saber, além do que significa a Dislexia para os cinquenta professores que fizeram parte da pesquisa, como percebem a importância do diagnóstico e o que realizam em sua prática para satisfazer as necessidades dos alunos disléxicos; além disso, identificou-se qual o número de alunos com diagnóstico de Dislexia e com dificuldades, mas sem o diagnóstico. Foram consultados documentos legais que se referem de alguma forma ao processo de aprendizagem da criança ou do adolescente e aos direitos e inclusão daqueles que apresentam quaisquer distúrbios ou dificuldades. Além disso, a pesquisa contou com o preenchimento de questionários por parte de cinquenta professores atuantes em salas de aula do Ensino Fundamental I de escolas públicas e privadas, sendo uma pública e três privadas localizadas na capital do Estado de São Paulo e na Grande São Paulo. Não consistiu objetivo do trabalho a comparação das instituições ou redes, mas sim reunir um número significativo de professores que atuam nos primeiros anos do Ensino Fundamental I. A pesquisa se restringiu a professores atuantes em tal momento da Educação Básica, pois estes são os que lecionam para alunos durante o processo de alfabetização, momento esse em que as dificuldades na aquisição da leitura são notadas de modo mais acentuado. Participaram da pesquisa professores com diferentes tempos de formação e atuação em sala de aula e com formação também diversa, alguns com pós-graduação e outros com graduação. A pesquisa teve cunho qualitativo, sendo os dados sistematizados e analisados com base no seguinte referencial teórico: Perrenoud (2001), com a discussão do conceito indiferença; os estudos de Tardif (2012) sobre os saberes docentes, tema essencial para uma análise das representações dos professores, assim como Chartier (1999, 2002) com o conceito de representação. Para conceituar Dislexia nos valemos das contribuições de autores como Simone Capellini (2009; 2011; 2013) e Jaime Zorzi (1998; 2009) que tratam do conceito no âmbito da fonoaudiologia; Saul Cypel (1993) e Sylvia Ciasca (2006), assim como Sally Shaywitz (2006) e Françiose Estienne (2001) foram referências para conceituar o termo além de Susan e William Stainback (1999). O estudo revelou que os professores investigados possuem representações variadas sobre a Dislexia, estando algumas mais próximas e outras menos das referências teóricas e documentos legais tomados como base. A pesquisa mostrou os percalços ou a preocupação em agir de forma que seja justa e adequada perante a dificuldade apresentada por alunos disléxicos. Muitos professores sinalizaram adaptações a serem realizadas ao possuírem alunos com Dislexia, mas estas foram bastante diversas e demonstraram certa insegurança ou incerteza em ser assertivo na adaptação utilizada. / This dissertation is the result of the research that aimed to investigate the teachers representations of the elementary school in both scenarios the private and the public, about dyslexia and how these representations guide their practices. We seek to understand not only what dyslexia means to fifty teachers who were part of the research but also how they perceive the importance of diagnosing and performing in their practice to meet the needs of dyslexic students. Furthermore, it was identified the number of students diagnosed with dyslexia and how many have difficulties, but without the diagnosis. Legal documents that are, somehow, related to child\'s or adolescents learning process and the rights and inclusion of those who have any disturbances or difficulties were consulted. In addition, the research included the completion of questionnaires by fifty teachers working in classrooms of elementary school of public and private schools (one public and three private schools, located in the capital of São Paulo and São Paulos metropolis).The objective of this dissertation is not to make the comparison of institutions or networks, but to gather a significant number of teachers who work in the early years of elementary school I. The research was restricted to teachers who work with basic education since they are the ones who teach for students in the literacy process, in which the difficulties in reading acquisition can be more sharply noted. The participants were teachers at different times of training and performance in the classroom and different backgrounds, some of them were postgraduates, some graduated. The research has a qualitative nature and was systematized and analyzed based on the following theoretical: Perrenoud (2001), which discuss the indifferences concept; the studies of Tardif (2012) on the teaching knowledge, essential theme for an analysis of the representations of teachers, as well as Chartier (1999, 2002) with the representations concept. To conceptualize Dyslexia we make use of the contributions of authors such as Simone Capellini (2009; 2011; 2013) and Jaime Zorzi (1998, 2009) who deal with this concept in the context of speech therapy. Saul Cypel (1993) and Sylvia Ciasca (2006), as well as Sally Shaywitz (2006) and Franciose Estienne (2001) were references to conceptualize the term, in addition of Susan and William Stainback (1999). The study revealed that teachers present various representations of Dyslexia, some of which more and some less related to the theoretical references and legal documents used as a basis. Research has shown the difficulty or concern of the teachers to act in a manner that is fair and adequate, given the current difficulties presented by dyslexic students. Many teachers signaled adaptations to be made when having students with dyslexia, but they were quite different and demonstrated uncertainty or insecurity about being assertive in adapting used.

Ce travail de thèse a pour objectif d'explorer le rôle de l'attention visuelle dans les traitements visuels précoces en lecture. Il repose sur le cadre théorique du modèle mémoire multitrace de lecture (MTM) et de l'hypothèse du trouble de l'empan visuo-attentionel (VA) dans la dyslexie développementale. La capacité d'attention visuelle est opérationnalisée par l'empan VA, défini comme le nombre maximal d'éléments visuels qui peuvent être traités en parallèle. L'empan VA contribue significativement aux performances en lecture et est réduit chez une partie de la population dyslexique. Une série de trois études a exploré les relations entre l'attention visuelle, l'empan VA et la lecture chez le normo-lecteur. Dans une première étude, nous avons testé si le traitement des lettres dans les tâches de report de l'empan VA était parallèle ou sériel. Dans une deuxième étude, nous avons cherché à spécifier le rôle de l'attention visuelle dans l'empan VA et la lecture. Enfin, dans une troisième étude, nous voulions mettre en évidence à l'aide de l'IRMf l'implication des réseaux neuronaux de l'attention visuelle dans les traitements pré-orthographiques. Ces trois études suggèrent que l'attention visuelle est une composante importante des traitements pré-orthographiques de séquences de lettres. L'objectif de la deuxième série d'études était de montrer qu'un déficit de l'attention visuelle est l'explication la plus plausible du déficit de l'empan VA. Dans une quatrième étude, nous avons confronté les prédictions d'une explication phonologique ou visuelle du déficit de l'empan VA pour une tâche de catégorisation de séquences de caractères. Enfin, une dernière étude a évalué les corrélats neuronaux associés au traitement visuel de séquences de caractères chez des adultes dyslexiques avec trouble de l'empan VA. Ces deux dernières études suggèrent que le trouble sous-jacent au déficit de l'empan VA est bien une réduction de la capacité d'attention visuelle et non pas un déficit des capacités de recodage verbal. / This doctoral thesis aims to investigate the role of visual attention in the visual front-end of reading. It is grounded in the theoretical framework of the multi trace memory model (MTM) of reading and of the visual attention (VA) span deficit hypothesis of developmental dyslexia. Visual attention capacity in the MTM model is operationalized by the VA span, defined as the maximum number of individual visual elements that can be processed in parallel. VA span contributes significantly to reading performance in normal reading children and is selectively impaired in a subset of the dyslexic population. Three studies investigated the role of visual attention in VA span and visual word recognition in normal reading. A first study tested whether letter processing in the VA span whole report task was parallel or serial. A second study specified the role of visual attention in VA span and reading speed. Finally, a third study used fMRI to investigate whether pre-orthographic processing involves neural networks of visual attention. These three studies argue for visual attention as an important component of pre-orthographic processing. A second series of studies aimed to show that an impairment of visual attention best accounts for the VA span deficit. In a fourth study, predictions of phonological and visual accounts of the VA span deficit were tested using a multiple character categorization task. Finally, a fifth study explored the neural correlates of multiple character processing in VA span impaired adults. These last two studies argue for reduced visual attention capacity and not poor verbal recoding abilities as the underlying cause for the VA span deficit.

A dislexia é um transtorno específico de leitura que consiste em um rendimento na leitura e na escrita inferior ao esperado para a idade cronológica, para nível de escolaridade e para o nível de inteligência, sendo a eficiência intelectual adequada (QI 80). Os principais comprometimentos envolvem habilidades de competências linguísticas como dificuldade de consciência fonológica, memória fonológica, discriminação e nomeação. Estudos apontam relação entre as dificuldades na leitura e na escrita e fatores neurobiológicos. O objetivo deste projeto foi investigar se existem diferenças entre morfometria cerebral através de segmentação automática para análise de espessura e volume e diferenças entre o desempenho cognitivo em testes neuropsicológicos do grupo de indivíduos com dislexia comparados com um grupo controle pareado. Foi realizado um estudo prospectivo no qual participaram 30 crianças, sendo 15 indivíduos com dislexia e 15 controles pareados por idade e por sexo. Foram avaliadas habilidades cognitivas tais como: eficiência intelectual, funções de atenção, habilidade visuoconstrutivas e habilidades de linguagem oral e escrita. A morfometria cerebral foi baseada em sequência T1 volumétrica de ressonância magnética e segmentação automática com medida da espessura e volume utilizando o pacote de software FreeSurfer. Na avaliação neuropsicológica, as habilidades que se mostraram mais prejudicadas foram aspectos da memória e da linguagem oral e escrita, tais como rebaixamento de span de memória operacional fonológica e dificuldade de fluência verbal, de associação e integração de ideias, de definição/conceitos, de nomeação e principalmente de consciência fonológica, de leitura e de escrita. As análises de neuroimagem sugerem alterações estruturais no cérebro do grupo clínico com redução no volume de substância cinzenta em regiões corticais, tais como lobo temporal inferior esquerdo e lobo temporal médio direito, e redução no volume de substância branca de ambos os hemisférios. Não foram identificadas alterações significativas na espessura. As alterações estruturais observadas através das técnicas de imagem podem estar relacionadas às funções cognitivas que se mostraram afetadas. / Dyslexia is a specific reading disorder that consists of a performance in reading and writing lower than expected for chronological age, educational level and for the level of intelligence, with an adequate intellectual efficiency (IQ 80 ). The main commitments involve abilities of language skills as difficulty in phonological awareness, phonological memory, discrimination and naming. Studies show link between difficulties in reading and writing and neurobiological factors. The objective of this project was to investigate whether differences in brain morphometry using automatic segmentation for the analysis of thickness and volume differences between cognitive performance on neuropsychological tests of the group of individuals with dyslexia compared with a control group. This is a prospective study in which 30 children participated, with 15 individuals with dyslexia and 15 controls matched by age and sex. Cognitive skills were evaluated as such: Intellectual efficiency, attention skill, visuo- constructive abilities and skills of oral and written language. Brain morphometry was based on sequence T1 volumetric MRI automatic segmentation and measurement of the thickness and volume using FreeSurfer software package. Neuropsychological skills that were more impaired were aspects of memory and oral and written language, such as flattening of phonological working memory span and difficulty in verbal fluency, association and integration of ideas, definitions / concepts, appointment and especially phonological awareness, reading and writing. Neuroimaging studies suggest structural changes in the brain with clinical group reduction in gray matter volume in cortical regions such as the left inferior temporal lobe and right middle temporal lobe, and a reduction in the volume of white matter of both hemispheres. No significant changes were identified in thickness. Structural changes observed through imaging techniques may be related to cognitive functions that have proven affected.

Reading requires the successful recruitment and coordination of brain networks to translate visual symbols into phonemes, which are then sequenced to match speech sounds and matched onto semantic representations. Although phonemic awareness is understood to be a core deficit associated with reading disability, neuroimaging has demonstrated an association between poor reading and disruption to various interrelated areas in the brain. This includes one of the major visual pathways, the magnocellular pathway, which contributes to the dorsal pathway in the brain and the processing of motion. For at least two decades, researchers have observed differences in motion processing, supported by the magnocellular pathway, between individuals with and without dyslexia (Eden et al., 1996; Gori et al., 2016; Livingstone et al., 1991; Wilmer, 2004). Further, psychometric studies report an association between reading ability and dorsal stream sensitivity in adults and in children before and after learning to read (Boets et al., 2011; Kevan & Pammer, 2009). Studies of the development of the major visual pathways have suggested that the magnocellular pathway follows a protracted course of development, which raises the possibility that it is vulnerable to pathological change during development and also has the potential for greater plasticity (Armstrong et al., 2002; Stevens & Neville, 2006). To explore the potential differences in early-stage visual processing, this dissertation study investigated whether neurophysiological measures, as indexed by event-related potentials (ERP), may differ between adults with and without dyslexia to stimuli tailored to evoke a response from each of two major visual pathways: magnocellular and parvocellular. The P1 component was elicited in response to motion stimuli designed to probe magnocellular pathways, and the N1 component was elicited in response to color stimuli designed for parvocellular processing. Group comparisons revealed statistically significant group differences in P1 amplitude for the motion/magnocellular condition, but no differences were found for N1 ERP measures for the parvocellular/color condition. Moderate to strong correlations between P1 measures in response to the magnocellular/motion condition were observed in relation to specific behavioral assessments: nonverbal reasoning and memory, orthographic choice, the word identification subtest from the Woodcock Reading Mastery Test (3rd edition: WRMT-III, Woodcock, 2011), and the sight word efficiency subtest from the Test of Word Reading Efficiency (2nd edition: TOWRE-2, Wagner, Torgesen, & Rashotte, 2011). These results are indicative of an early-stage visual processing disruption in individuals with dyslexia observable at the level of the brain. Due to the compounding impact of even small disruptions of sensory and cognitive processing on learning, refining our knowledge of the underlying neural mechanisms of reading may permit earlier identification and potentially more focused interventions that could yield better outcomes for struggling readers. Additionally, the association of those differences with measures of word decoding will inform further research into the underlying neural mechanisms that may contribute to dyslexia and skilled reading.

Dislexia é um dos distúrbios de aprendizagem, sendo um transtorno específico no aprendizado da leitura. Tem origem constitucional, caracterizado pela dificuldade em decodificar palavras simples, mostrando insuficiência no processo fonológico, não esperada para sua idade cronológica, apesar de instrução convencional, adequada inteligência, oportunidade sociocultural e sem distúrbios cognitivos. O uso de atividades terapêuticas de treino das habilidades fonológicas leva a uma melhora quanto à análise fonológica da linguagem escrita, interferindo diretamente na habilidade de leitura e compreensão. É importante que se busquem meios alternativos para monitorar a evolução terapêutica, principalmente quanto à sua capacidade cognitiva. O objetivo deste estudo foi verificar os efeitos de um programa de remediação fonológica de leitura e escrita em escolares com Dislexia de Desenvolvimento. Foram avaliadas 20 crianças com diagnóstico de dislexia do desenvolvimento, com idade de 8 a 14 anos, sendo o grupo I (GI) composto por 10 escolares submetidos ao programa, e grupo II (GII), composto por 10 escolares não submetidos à remediação. Foram utilizados no processo de avaliação: Prova de Consciência Fonológica; Teste de Nomeação Automática Rápida; Prova de Leitura e Escrita de palavras reais e inventadas; Escrita temática; Prova de Memória de trabalho e teste do Potencial evocado auditivo cognitivo PEAC-P300. Após, foi aplicado o programa de remediação fonológica, de leitura e escrita, realizado em três etapas distintas, com 24 sessões, cumulativas, sendo cada etapa realizada duas vezes por semana, com duração de 30 minutos cada. Na pós-testagem do programa foram reaplicados todos os testes da pré-testagem. Houve diferença estatisticamente significante na pontuação dos testes de consciência fonológica, do acesso ao léxico mental, da memória de trabalho, escrita temática e escrita sob ditado, além da leitura de palavras e pseudopalavras, assim como na latência do componente P3 do PEAC-P300, para o grupo submetido à remediação fonológica, na comparação entre pós e pré testagem, enquanto o GII manteve o mesmo nível de dificuldades. Além disso, encontramos relação entre a alteração de desempenho obtido pelo grupo submetido ao programa entre o teste de consciência fonológica e a latência do componente LN2 do p300. A análise desses resultados revela que houve diferença no desempenho pós-intervenção terapêutica dos participantes do GI nas habilidades, mesmo em curto prazo. O programa de remediação fonológica mostrou-se um método terapêutico de efeitos benéficos e rápidos, proporcionando melhora não apenas quantitativa, mas principalmente qualitativa nos escolares com dislexia do desenvolvimento, quanto ao domínio de habilidades auditivas, fonológicas e de leitura e escrita, favorecida pelo uso do processamento fonológico da informação. Além disso, o PEAC-P300 mostrou-se uma ferramenta útil para o monitoramento da evolução terapêutica, podendo ser utilizado na prática clínica. / Dyslexia is a learning disorder, being a specific disorder in learning of reading. Constitutional origin, characterized by difficulty in decode simple words, showing insufficiency in the phonological process, not expected for his chronological age, despite conventional instruction, adequate intelligence, socio-cultural opportunity, without cognitive disorders. The use of therapeutic activities of training of phonological skills leads to an improvement in phonological analysis with regard to written language, interfering directly in the ability to read and understand. It is important to seek the means to monitor the therapeutic evolution, especially as your cognitive ability. The goal of this study was to verify the performance in evaluation procedures of language in children with developmental dyslexia in pre and post phonological remediation program and reading and writing, prepared from phonological abilities, auditory and visual skills, reading and writing. Were evaluated 20 children diagnosed with developmental dyslexia, aged 8 to 14 years, with the Group I (GI) composed of school 10 submitted to the program, and group II (GII), composed of 10 schools not subject to remediation. Were used in the evaluation process: Phonological Awareness; Rapid Auto-naming test; Proof-reading and writing real words and invented; Thematic writing; Proof of working memory and cognitive auditory evoked potential CAEP-P300. After, was applied the phonological remediation program of reading and writing, in three distinct steps, with 24 sessions, cumulative, with each step performed twice a week, with a duration of 30 minutes each. In the post testing of the program were reapplied all the tests of pre testing.There was a statistically significant difference in score of phonological awareness tests, access to mental lexicon, working memory, thematic writing and written under dictation, and reading words and pseudo-words, as well as the latency of the P3 component of the CAEP-P300, the group submitted to the phonological remediation, in comparison between pre and post testing, while the GII has maintained the same level of difficulty. In addition, we find the relation between the change of performance achieved by the Group submitted to the program between the test of phonological awareness and the LN2 component of P300 latency. The analysis of the results reveals that there was difference in post-intervention performance of participants in the GI in therapy skills, even in the short term. The phonological remediation program proved to be an therapeutic method of beneficial effects and fast, providing improved not only quantitative, but qualitative mainly school development in with dyslexia, as to the field of auditory skills, phonological and reading and writing, favored by use of the phonological processing of information. In addition, the CAEP-P300 proved to be a useful tool for monitoring goal of evolution therapy, and can be used in clinical practice.

Since the Children and Families Act 2014, young people and parents appear (on paper) to have a bigger role than ever in negotiating Special Educational Needs provision for themselves/their children. However, recent studies have suggested this is not necessarily the case (Craston et al, 2013a; 2013b; 2013c), particularly for young people with a hidden impairment, such as dyslexia (Ross, 2013b; 2013c). This current study explored the experiences of dyslexic young people, their parents/carers and their teachers in relation to dyslexia-related support interventions. Over 5 months in 2015, fieldwork was undertaken at Hilltop View School (pseudonym), in a ‘Pathfinder’ Local Authority (The Stationary Office, 2011) in the South-West of England. Young people, parents and carers, and teachers participated in focus group sessions and one-to-one interviews. Lessons were also observed. Participants’ understandings of dyslexia, it’s effect on young people’s self-concept and subsequent ability to negotiate social spaces to secure provision of resources were explored within a framework based on Jenkins’ (2008) ‘levels of interaction’, grounded in a Bourdieusien model of the social world. Through the use of this unique theoretical framework, participants were found to have differing capacities to negotiate their own social space at different ‘levels of interaction’ (Jenkins, 2008). Young people and teachers were found to have the best capacity to navigate their social setting at an ‘interactional level’ (person to person interactions), while parents appeared to have more opportunity to engage at the ‘institutional level’ (person/institution to institution interactions). This study provides an understanding of the experiences of stakeholders within a changing policy framework and provides a new theoretical framework within which to undertake investigations into the experiences of stakeholders in SEND provision.

Dyslexia is a neurodevelopmental disorder that affects between 5% and 12% of school-aged children. Individuals with dyslexia have difficulties in learning to read despite normal IQ levels and adequate socio-economical and educational opportunities. Dyslexia has a strong genetic component, but only a few candidate genes have been characterized to date. The KIAA0319 gene is a strong dyslexia candidate found to be associated with dyslexia in independent studies. The KIAA0319 genetic variants associated with dyslexia reside in a regulatory region. Studies in rat suggested that this gene is required for neuronal migration during early cortex formation. The KIAA0319-like (KIAA0319L) is a KIAA0319 homolog in structure and has recently been shown to play a role in dyslexia. I used zebrafish as a model organism both to study the effects of non-coding variants and to characterise kiaa0319 gene function. I used Gateway Tol2 technology to study the role of regulatory sequences. While these experiments led to inconclusive results, they highlighted some of the challenges but also the feasibility of using zebrafish as model organism to study genetic associations. In parallel, I studied the kiaa0319 function with knockout and knockdown experiments. Additionally, I conducted a detailed gene expression analysis with different in situ hybridisation protocols showing kiaa0319 ubiquitous expression in the whole embryo before 12 hours post fertilisation, with later specification to the eyes, brain, otic vesicle and notochord. Additionally, I have tested for the expression of kiaa0319l and showed similar expression pattern to the kiaa0319, but with significantly lower expression of kiaa0319l in zebrafish notochord. My data show, for the first time, that kiaa0319 has stage-specific expression in the brain and notochord during zebrafish early development, suggesting kiaa0319 specific role in the development of these structures. These results are in line with recent mouse studies. With this project I support the idea of kiaa0319 role being extended beyond the brain function and propose a role for kiaa03019 in the visual system and in the notochord.

Dislexia é um dos distúrbios de aprendizagem, sendo um transtorno específico no aprendizado da leitura. Tem origem constitucional, caracterizado pela dificuldade em decodificar palavras simples, mostrando insuficiência no processo fonológico, não esperada para sua idade cronológica, apesar de instrução convencional, adequada inteligência, oportunidade sociocultural e sem distúrbios cognitivos. O uso de atividades terapêuticas de treino das habilidades fonológicas leva a uma melhora quanto à análise fonológica da linguagem escrita, interferindo diretamente na habilidade de leitura e compreensão. É importante que se busquem meios alternativos para monitorar a evolução terapêutica, principalmente quanto à sua capacidade cognitiva. O objetivo deste estudo foi verificar os efeitos de um programa de remediação fonológica de leitura e escrita em escolares com Dislexia de Desenvolvimento. Foram avaliadas 20 crianças com diagnóstico de dislexia do desenvolvimento, com idade de 8 a 14 anos, sendo o grupo I (GI) composto por 10 escolares submetidos ao programa, e grupo II (GII), composto por 10 escolares não submetidos à remediação. Foram utilizados no processo de avaliação: Prova de Consciência Fonológica; Teste de Nomeação Automática Rápida; Prova de Leitura e Escrita de palavras reais e inventadas; Escrita temática; Prova de Memória de trabalho e teste do Potencial evocado auditivo cognitivo PEAC-P300. Após, foi aplicado o programa de remediação fonológica, de leitura e escrita, realizado em três etapas distintas, com 24 sessões, cumulativas, sendo cada etapa realizada duas vezes por semana, com duração de 30 minutos cada. Na pós-testagem do programa foram reaplicados todos os testes da pré-testagem. Houve diferença estatisticamente significante na pontuação dos testes de consciência fonológica, do acesso ao léxico mental, da memória de trabalho, escrita temática e escrita sob ditado, além da leitura de palavras e pseudopalavras, assim como na latência do componente P3 do PEAC-P300, para o grupo submetido à remediação fonológica, na comparação entre pós e pré testagem, enquanto o GII manteve o mesmo nível de dificuldades. Além disso, encontramos relação entre a alteração de desempenho obtido pelo grupo submetido ao programa entre o teste de consciência fonológica e a latência do componente LN2 do p300. A análise desses resultados revela que houve diferença no desempenho pós-intervenção terapêutica dos participantes do GI nas habilidades, mesmo em curto prazo. O programa de remediação fonológica mostrou-se um método terapêutico de efeitos benéficos e rápidos, proporcionando melhora não apenas quantitativa, mas principalmente qualitativa nos escolares com dislexia do desenvolvimento, quanto ao domínio de habilidades auditivas, fonológicas e de leitura e escrita, favorecida pelo uso do processamento fonológico da informação. Além disso, o PEAC-P300 mostrou-se uma ferramenta útil para o monitoramento da evolução terapêutica, podendo ser utilizado na prática clínica. / Dyslexia is a learning disorder, being a specific disorder in learning of reading. Constitutional origin, characterized by difficulty in decode simple words, showing insufficiency in the phonological process, not expected for his chronological age, despite conventional instruction, adequate intelligence, socio-cultural opportunity, without cognitive disorders. The use of therapeutic activities of training of phonological skills leads to an improvement in phonological analysis with regard to written language, interfering directly in the ability to read and understand. It is important to seek the means to monitor the therapeutic evolution, especially as your cognitive ability. The goal of this study was to verify the performance in evaluation procedures of language in children with developmental dyslexia in pre and post phonological remediation program and reading and writing, prepared from phonological abilities, auditory and visual skills, reading and writing. Were evaluated 20 children diagnosed with developmental dyslexia, aged 8 to 14 years, with the Group I (GI) composed of school 10 submitted to the program, and group II (GII), composed of 10 schools not subject to remediation. Were used in the evaluation process: Phonological Awareness; Rapid Auto-naming test; Proof-reading and writing real words and invented; Thematic writing; Proof of working memory and cognitive auditory evoked potential CAEP-P300. After, was applied the phonological remediation program of reading and writing, in three distinct steps, with 24 sessions, cumulative, with each step performed twice a week, with a duration of 30 minutes each. In the post testing of the program were reapplied all the tests of pre testing.There was a statistically significant difference in score of phonological awareness tests, access to mental lexicon, working memory, thematic writing and written under dictation, and reading words and pseudo-words, as well as the latency of the P3 component of the CAEP-P300, the group submitted to the phonological remediation, in comparison between pre and post testing, while the GII has maintained the same level of difficulty. In addition, we find the relation between the change of performance achieved by the Group submitted to the program between the test of phonological awareness and the LN2 component of P300 latency. The analysis of the results reveals that there was difference in post-intervention performance of participants in the GI in therapy skills, even in the short term. The phonological remediation program proved to be an therapeutic method of beneficial effects and fast, providing improved not only quantitative, but qualitative mainly school development in with dyslexia, as to the field of auditory skills, phonological and reading and writing, favored by use of the phonological processing of information. In addition, the CAEP-P300 proved to be a useful tool for monitoring goal of evolution therapy, and can be used in clinical practice.