Made available in DSpace on 2014-06-11T19:35:04Z (GMT). No. of bitstreams: 0 Previous issue date: 2012-02-17Bitstream added on 2014-06-13T18:45:57Z : No. of bitstreams: 1 ferreira_sl_dr_assis.pdf: 460622 bytes, checksum: d6f82557740906f79259c8ee6bb73e15 (MD5) / Reconhecendo no construcionismo social o modelo que possibilita fazer ciência no campo de convivência com o objeto, deste modo contemplando fatos, atos e emoções atrelados a um tempo e contexto, este trabalho se propõe a expor a história recente da construção teórica e prática no campo da deficiência intelectual. A partir da reflexão e do diálogo com autores que tiveram esta deficiência como objeto de estudo, buscamos fazer uma ressignificação de nossas experiências junto ao curso de Psicologia, vivenciadas no ensino, supervisão de estágio e coordenação de projetos de extensão. Para a organização e comunicação do conteúdo em análise, utilizamos o procedimento de tradução memorial, não para verter essas experiências numa narrativa científico-acadêmica, mas realizar a sua transposição do passado para o presente, de maneira a serem compreendidas em lugar diferente daquele no qual tiveram origem ou foram estabelecidas. Pelo mapeamento das mudanças de sentidos e práticas a respeito da deficiência intelectual é possível vislumbrar prospectivamente os possíveis lugares sociais que as pessoas com esta condição poderão ocupar. Para a construção desta possibilidade destacamos o trabalho da arte-educação, especificamente mediante o teatro, por ter se revelado uma linguagem propícia à que tais indivíduos possam expandir experiências acerca de si mesmos e do mundo à sua volta. Igualmente importante, destacamos a mídia, mediante seus diversos meios de comunicação, por considerá-la um recurso estratégico à materialização da existência social daqueles com esse... / In recognizing the social constructionism model, that allows the conducting of science in the field in coexistence with the object of study, therefor contemplating facts, actions and emotions tied to a time and context, this paper proposes to show the recent history of theoretical and practice construction in the field of intellectual deficiency. On reflection and dialogue with authors who presented this type of deficiency in study, we seek to give a new meaning to our experiences within the psychology course, as experienced in teaching, intern supervision and coordination of extension projects. In order to organize and communicate the test material we used the memory translation procedure. This was not to shed these experiences in a scientific and academic narrative, but to enable their transposition from the past to the present, in order to be understood in a different context, rather than from those of which it originated or were established. By mapping the changes in meanings and practices regarding intellectual deficiency it is possible to prospectively identify the social places that people with this condition may occupy. For the construction of this possibility we highlight the work of art education, specifically through theater. This have proven conducive to providing a language so that such individuals can share experiences about themselves and the world around them. Equally important, we highlight the media, through its various means of communication, by considering it a strategic resource to the... (Complete abstract click electronic access below)

Orientador: Cecilia Guarnieri Batista / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-27T00:44:36Z (GMT). No. of bitstreams: 1 Souza_FernandaSantos_M.pdf: 1217797 bytes, checksum: 698c03b54c66a1fe9231660b8c240982 (MD5) Previous issue date: 2015 / Resumo: A condição atualmente designada como deficiência intelectual tem sido tratada de diferentes formas. Nesse sentido, alguns dos marcos relevantes indicam: localização do problema no organismo (SNC e sistema endócrino), distinção entre deficiência e doença mental, ênfase na educabilidade e, a partir da segunda metade do século XX, na Educação Inclusiva. Diferentes organismos internacionais definem critérios para diagnóstico, que têm, em comum, nas versões mais recentes, as seguintes exigências: limitações significativas no funcionamento intelectual e no comportamento adaptativo, e início antes dos 18 anos. Algumas das definições enfatizam a modificabilidade da condição e a importância do contexto sociocultural. Esses aspectos foram valorizados por Vygotsky, que salientou a importância da compensação sociopsicológica, nos casos de alterações de origem orgânica (deficiências). O autor também enfatizou a importância da detecção de habilidades em início de desenvolvimento ("brotos" do desenvolvimento); o que tem implicações para a avaliação de pessoas com deficiência. Tendo em vista essas considerações, o objetivo do presente estudo foi identificar habilidades sociais e cognitivas em crianças e adolescentes com dificuldades para aprender, com QI igual ou inferior a 70 no teste WISC-IV (compatível com o valor delimitado para o diagnóstico de deficiência intelectual). O estudo foi composto de duas etapas: a primeira envolveu a seleção dos participantes; a segunda, a realização de estudos de caso. Para a seleção dos participantes, a pesquisadora aplicou o teste WISC-IV em 8 crianças e adolescentes, com idade entre 6 e 16 anos, que participavam dos atendimentos no Serviço de Psicologia do Desenvolvimento (SPD) do CEPRE/Unicamp. Foram selecionados, para a segunda etapa, cinco crianças e adolescentes que, no teste WISC-IV, apresentaram QI total inferior a 70 e valores inferiores à média nas quatro escalas do teste e que frequentaram com assiduidade os atendimentos do SPD. Em relação a cada participante, foram realizadas consultas a prontuários, entrevistas com os pais ou responsáveis e com os profissionais das escolas em que eles estavam matriculados. Foram realizadas observações sistemáticas das sessões de atendimento no SPD e, para alguns participantes, foram programadas sessões adicionais de atendimento. Todas as sessões foram filmadas e analisadas. A apresentação de cada estudo de caso incluiu: histórico, quadros relativos às habilidades sociais e cognitivas relatados pela família e profissionais da escola, análise dos modos de lidar com o participante (família e escola), descrição dos modos de participação no SPD, análise microgenética de episódios significativos e síntese. A análise dos casos permitiu a identificação de várias habilidades nos participantes, bem como favoreceu a compreensão de cada caso, ao identificar exemplos de incentivo ao desempenho e ainda evidenciou situações que provavelmente representavam obstáculos a novas aquisições. Os dados sugerem que, ao se enfatizar a busca de habilidades, pode-se obter uma visão abrangente de cada caso, de forma a contemplar, para além das limitações, as potencialidades e indícios de desenvolvimento das crianças e dos adolescentes / Abstract: The condition currently designed as intellectual deficiency has been treated in different ways. On this matter, some of the relevant marks point: localization of the problem in the organism (CNS and endocrinal system), distinction between deficiency and mental disease, as well as the emphasis in the education area and, the Inclusive Education starting from the second half of the 20th century. Different international organisms define criteria for diagnosis which has in common, in the most updated version, the following demands: considerable limitations in the intellectual work as well as the adaptive behavior, and beginning before the age of 18. Some of the definitions emphasize the changeability of the condition and the importance of the socio cultural context. These aspects were valued by Vygotsky, who mentioned the importance of the socio psychological compensation, in the alterations of organic origin cases (deficiency). The author also emphasized the importance of detection of abilities in the beginning of the development (sprout of the development); which has some implications to the evaluation of people with deficiency. Having in mind these considerations, the target of this study was to identify social and cognitive abilities in children and teenagers facing learning difficulties, with the same IQ or inferior to 70 in the WISC-IV test (compatible to the delimited value for the intellectual deficiency diagnosis). This study was made of two parts: the first envolved selecting the participants; the second, studying the case. In order to select the participants, the researcher gave the WISC-IV test in eight children and teenagers, aged from six to sixteen, who were part of the Development of the Psychology Service sessions (SPD) of Cepre/ Unicamp. It was selected for the second part five children and adolescents who presented in total an IQ less than 70 and values inferior to the average in the four scales evaluated in the test and that were frequent in the attendance in the SPD sessions. Related to each participant, it was made some sessions with medical record, interview with parents or some responsible for the children and the professionals of the schools where they were enrolled. It was made systematic observations of the sessions in the SPD and, for some participants, it was programmed additional sessions. All the sessions were filmed and analyzed. The presentation of each case study included: historic, table related to social and cognitive abilities related by the family and school professionals, analysis of the way to deal with the participant (family and school), description of the ways of participation in SPD, micro genetics analysis of important episodes and synthesis. The cases analysis allowed the identification of a lot of abilities in the participants, as well as enhanced the comprehension of each case by identifying examples of performance motivation and pointed situations that probably represented to an obstacle to new acquisitions. The data suggests that, when emphasizing the search of abilities, it¿s possible to have a wide view of each case, in a way to contemplate, beyond limitations, the potentialities and indications of the children and teenagers¿ development / Mestrado / Interdisciplinaridade e Reabilitação / Mestra em Saúde, Interdisciplinaridade e Reabilitação

Submitted by admin tede (tede@pucgoias.edu.br) on 2017-06-01T13:30:09Z No. of bitstreams: 1 Cristianne Beda de Queiroz Mendes.pdf: 2077792 bytes, checksum: 56c67e64d5897904b878678b5932b2fc (MD5) / Made available in DSpace on 2017-06-01T13:30:09Z (GMT). No. of bitstreams: 1 Cristianne Beda de Queiroz Mendes.pdf: 2077792 bytes, checksum: 56c67e64d5897904b878678b5932b2fc (MD5) Previous issue date: 2016-08-02 / Noticing the complexity of inclusion of deficient students at usual school class in addiction the difficulties which are dealing by the teachers during the process of their work it is asked: in what degree are the teachers getting to attend the school demands of the deficient students, in special those ones who are identify with Intellectual Deficiency (ID) and which are the pedagogical practices implemented in this process? And still more are these practices those come from the contact and acting with students with intellectual deficiency innovated or are practices that had been reiterated in the normal process with those worked with the students with the learning difficulties( LD) which ones have already instituted in the docent working? The current working has as purpose to try going through the direction of the inclusion of the students with intellectual deficiency through the studies of the pedagogical including practices and the social representations of the students with intellectual deficiency. For doing this the study was divided into two phases. In the first phase which was called exploratory working which five teachers were interviewed with experience in the working with students with ID and whose the purpose of it was to identify their perception about the pedagogical characteristics and practices. These data were used to structure the following questionnaire used in the next step. In the second phase was actualized two studies through the application of two questionnaires with volunteer teachers. The first study with social representations of the students with ID and pedagogical including practices had the participation of 38 teachers. The second one with the students with the social representations of the students with ID had the participation of 40 teachers. The findings show that the social representations of the student with ID are still been developed and they are formed the base that the student with ID is an absent-minded, excited one showing several kinds of difficulties as school ones( writing, reading and understanding) and as social ones. The teachers try to supply these difficulties with guide practices by educational guidelines, as the conducting of these students to the recourse room with the purpose to have a specialized attendance. Emphasize the importance given by the teacher to the professional appraisal and the importance of the docent education in the structure of the social representations in the educational context. / Diante da complexidade da inclusão de alunos com deficiências no ensino regular, somadas das dificuldades já enfrentadas pelos professores no exercício de seu trabalho, pergunta-se: Em que medida os professores estão conseguindo atender às demandas escolares dos alunos com deficiência, em especial, aqueles identificados com deficiência intelectual (D.I.). e quais as práticas pedagógicas implementadas neste processo? E ainda, estas práticas, advindas do contato e da atuação com alunos com deficiência intelectual seriam inovadoras, ou práticas já reiteradas no trabalho cotidiano, como aquelas utilizadas com alunos com dificuldades de aprendizagem (D.A.), já normalmente instituídas no trabalho docente? E quais seriam as representações sociais que permeiam o trabalho dos professores com os alunos com D.I.? O presente trabalho teve como proposta percorrer os caminhos da inclusão dos alunos com deficiência intelectual, por meio do estudo das práticas pedagógicas inclusivas e das representações sociais do aluno com D.I. Para tanto, o estudo foi dividido em duas fases. Na Fase I, chamado de estudo exploratório, foram entrevistados cinco professores com experiência no trabalho com alunos com D.I e objetivou identificar suas percepções quanto às características e práticas pedagógicas. Estes dados serviram para a construção do questionário utilizado na fase seguinte. Na fase II, foram realizados dois estudos com aplicação de questionários em professores voluntários. O primeiro estudo, sobre as representações sociais dos alunos com D.I. e práticas pedagógicas inclusivas, contou com a participação de 38 professores. O segundo, sobre as representações sociais do aluno com D.A e as práticas docentes, foi realizado com 40 professores. Os resultados indicam que as representações sociais do aluno com D.I. ainda encontram-se em construção, e estão pautadas na percepção de que o aluno com D.I. é desatento e agitado, apresentando vários tipos de dificuldades, tanto escolares (escrita, leitura, entendimento) como sociais. Os professores tentam suprir essas dificuldades com práticas orientadas por diretrizes educacionais, como o encaminhamento para a sala de recursos, com vistas a obterem um atendimento especializado. A diferença atribuída pelos professores quantos às características dos alunos com D.A. e com D.I. consiste, no primeiro caso, serem alunos que não aprendem porque não querem, enquanto os alunos com D.I. não aprendem porque não conseguem. Ressalta-se a importância atribuída pelo professor ao laudo profissional e o papel da formação docente na construção das representações sociais no contexto educativo.

A partir des situations mises en œuvre en éducation physique et sportive (EPS), quels facteurs influencent l’intégration sociale des adolescents présentant une déficience intellectuelle (DI) ? Nos travaux s’appuient sur une expérience d’intégration au collège avec pour objectif d’explorer en profondeur la communication entre deux sous-groupes d’adolescents DI issus d’un Institut médico-éducatif (IME) et trois classes de sixième au cours de séances d’éducation physique et sportive. Pour ce faire, compte tenu des représentations des collégiens analysées à partir d’une enquête par questionnaire et autour d’une étude comportementale au long terme, nous mettons en comparaison un questionnaire sociométrique avec un outil original praxéologique (privilégiant l’ambivalence et l’instabilité). Nous constatons que, malgré des représentations d’ensemble plutôt positives, les résultats de l’intégration sont variés. Certains adolescents DI sont appréciés par les sixièmes tandis que d’autres sont ignorés voire rejetés. Les raisons proviennent à nos yeux, d’une part, de la structure même des sous-groupes d’adolescents DI et de leurs compétences propres. D’autre part, la logique interne de certaines situations motrices semble exclure en grande partie les élèves de l’IME. De ce fait, une meilleure connaissance de ces personnes et des relations qu’elles développent entre elles devraient améliorer leur intégration. De plus, une maîtrise par l’enseignant des effets des situations sociopraxiques mises en œuvre, lors des séances communes aux deux populations, sera probablement bénéfique. / From the situations operated in physical education (PE), what factors determines the social intégration of the teenagers presenting an intellectual deficiency (ID)? Our works lean on an experiment of integration to the middle school with for objective to explore in depth the communication between two subgroups of teenager ID coming from a Medical educational institute and three first classes of the secondary school during physical educational sessions. To do it, considering the representations of the schoolchildren analyzed from a survey by questionnaire and around a behavioral study in the long term, we compare a sociometric questionnaire with an original motor tool (favoring the ambivalence and the instability). The results show that in spite of representations of group rather positive, we notice the effect of a multivariated integration. Certain teenagers DI are appreciated by the sixth of the secondary school whereas of other one are ignored or rejected. The reason result for us on one hand from the structure of the subgroups of teenagers DI and from their appropriate skills. On the other hand the internal logic of certain motor situations, seems to exclude largely the pupils of the medical educational institute. Therefore, a knowledge of these persons and the relations which they develop between them should improve their integration. Furthermore, a control by the teacher about the effects of the sociomotor situations implemented, during the sessions to both populations, will probably be beneficial.

Orientador: José Sterza Justo / Banca: Sadao Omote / Banca: Maria Amelia Almeida / Banca: Paulo Roberto de Carvalho / Banca: Francisco Hashimoto / Resumo: Reconhecendo no construcionismo social o modelo que possibilita fazer ciência no campo de convivência com o objeto, deste modo contemplando fatos, atos e emoções atrelados a um tempo e contexto, este trabalho se propõe a expor a história recente da construção teórica e prática no campo da deficiência intelectual. A partir da reflexão e do diálogo com autores que tiveram esta deficiência como objeto de estudo, buscamos fazer uma ressignificação de nossas experiências junto ao curso de Psicologia, vivenciadas no ensino, supervisão de estágio e coordenação de projetos de extensão. Para a organização e comunicação do conteúdo em análise, utilizamos o procedimento de tradução memorial, não para verter essas experiências numa narrativa científico-acadêmica, mas realizar a sua transposição do passado para o presente, de maneira a serem compreendidas em lugar diferente daquele no qual tiveram origem ou foram estabelecidas. Pelo mapeamento das mudanças de sentidos e práticas a respeito da deficiência intelectual é possível vislumbrar prospectivamente os possíveis lugares sociais que as pessoas com esta condição poderão ocupar. Para a construção desta possibilidade destacamos o trabalho da arte-educação, especificamente mediante o teatro, por ter se revelado uma linguagem propícia à que tais indivíduos possam expandir experiências acerca de si mesmos e do mundo à sua volta. Igualmente importante, destacamos a mídia, mediante seus diversos meios de comunicação, por considerá-la um recurso estratégico à materialização da existência social daqueles com esse... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: In recognizing the social constructionism model, that allows the conducting of science in the field in coexistence with the object of study, therefor contemplating facts, actions and emotions tied to a time and context, this paper proposes to show the recent history of theoretical and practice construction in the field of intellectual deficiency. On reflection and dialogue with authors who presented this type of deficiency in study, we seek to give a new meaning to our experiences within the psychology course, as experienced in teaching, intern supervision and coordination of extension projects. In order to organize and communicate the test material we used the memory translation procedure. This was not to shed these experiences in a scientific and academic narrative, but to enable their transposition from the past to the present, in order to be understood in a different context, rather than from those of which it originated or were established. By mapping the changes in meanings and practices regarding intellectual deficiency it is possible to prospectively identify the social places that people with this condition may occupy. For the construction of this possibility we highlight the work of art education, specifically through theater. This have proven conducive to providing a language so that such individuals can share experiences about themselves and the world around them. Equally important, we highlight the media, through its various means of communication, by considering it a strategic resource to the... (Complete abstract click electronic access below) / Doutor

Le syndrome de Williams (SW) est une maladie génétique rare admettant un trouble du développement intellectuel (DI). Sur le plan neuropsychologique, la littérature fait état d’un consensus autour d’un profil dissociatif entre des capacités de langage oral relativement préservées et d’autres habiletés cognitives altérées. Malgré ces spécificités, peu d’études ont investigué le domaine des apprentissages dans cette population, dont celui de la lecture. Les rares résultats rapportés font part de trois hypothèses explicatives quant aux difficultés d’acquisition de la lecture : l’efficience intellectuelle, les capacités méta-phonologiques et, plus récemment, le traitement visuo-spatial.Dans la continuité de ces travaux, cette thèse propose, pour la première fois en France, de mieux comprendre les difficultés d’acquisition de la lecture chez des personnes porteuses du SW. Nos deux objectifs proposaient de caractériser les procédures de lecture et d’identifier les habiletés impliquées dans la mise en place de l’identification des mots écrits.Nos deux premières études présentent un état des lieux de la recherche actuelle auprès des personnes porteuses de DI et du SW. Au-delà du niveau d’efficience intellectuelle, nos observations indiquent que les compétences de lecture existent malgré des déficits de certaines habiletés cognitives. Nos trois derniers articles explicitent les résultats exploratoires de nos deux études, transversale et longitudinale, à l’aide de tests standardisés et d’appariement en âge chronologique, mental, de niveau de vocabulaire et de lecture. Les résultats démontrent une implication des compétences méta-phonologiques et visuo-spatiales, respectivement, lors de la mise en place de la voie sublexicale et de la récupération orthographique des mots écrits.Enfin, nous discutons des prises en charges thérapeutiques et de remédiations pouvant être adaptées à la population que nous étudions, mais plus largement, à d’autres populations atypiques. / Williams syndrome (WS) is a rare genetic disease involving an intellectual developmental disorder (ID). Regarding the neuropsychological level, a consensus around a dissociation profile between relatively preserved oral language and other impaired cognitive abilities is reported in the literature. Despite these specificities, few studies have investigated the learning aspects in this population, and more specifically the reading area. Three explanatory hypotheses are shared by the few reported results regarding the reading acquisition difficulties: intellectual efficiency, metaphonological abilities and, more recently, visuospatial processing. In line with this work, our research attempts, for the first time in France, to better understand the reading difficulties acquisition by people with the WS. Our two objectives were to characterize the reading procedures and to identify the skills involved in the installation of written words identification. Our first two studies present an inventory of the curent research about people with ID and WS. Beyond the level of intellectual efficiency, our observations indicate that these people have reading skills despite the deficits in certain cognitive skills. Our last three articles explain the exploratory results of our two studies, transversal and longitudinal, using standardized tests and matching chronological age, mental age, vocabulary level and reading level. The results demonstrate an involvement of metaphonological and visuospatial skills, respectively, in setting up the sublexical procedure and the orthographic recovery of written words. Finally, we are discussed about therapeutic and remediation treatment that can be appropriate to our study population, but more broadly, to other atypical populations.

Les troubles du spectre autistique (TSA) sont caractérisés par des déficits des interactions sociales et de la communication et par la présence de comportements répétitifs et stéréotypés. Les TSA sont associés à une hérédité complexe et une très importante hétérogénéité étiologique impliquant plus d'une centaine de gènes et loci. Les variants génétiques identifiés sont rares voire uniques et les mutations de novo jouent un rôle considérable. Des formes autosomiques dominantes ou récessives, liées au chromosome X, à forte pénétrance ou associées à une expressivité variable ont été rapportées. Néanmoins, nos connaissances de l'architecture génétique des TSA restent très incomplètes puisque les causes connues n'expliquent la pathologie que chez environ 25 % des cas, indiquant qu'il reste encore de nombreux gènes et loci à identifier. Ce travail de thèse a consisté en l'analyse de variations du nombre de copies de gènes (copy number variations, CNVs) afin de poursuivre la dissection de l'étiologie des TSA, d'identifier de nouveaux gènes impliqués et de mieux comprendre les mécanismes physiopathologiques sous-jacents.Grâce à la participation de notre équipe au consortium international Autism Genome Project (AGP), nous avons pris part à une analyse pangénomique avec des micropuces à ADN à très haute résolution chez près de 3 000 trios parents-enfant, répartis en deux stades. Les résultats du premier stade avaient démontré le rôle considérable des CNVs rares dans l'étiologie dans les TSA, en particulier les CNVs de novo. Dans le second stade, nous avons procédé à l'analyse de la deuxième moitié des familles et réanalysé les données combinées de l'ensemble des familles des deux s / Non renseigné

La Déficience Intellectuelle liée au chromosome X (X-LID), anciennement appelée RMLX (retard mental lié au chromosome X) est une pathologie fréquente (3 % de la population) et handicapante. Cette déficience se manifeste par la réduction de la capacité à comprendre les informations nouvelles ou complexes, des difficultés d’acquisition de nouvelles compétences et l’échec dans la gestion de sa vie en toute autonomie ; celle-ci est souvent accompagnée par un dysmorphisme corporel. Cette pathologie s’installe dès l’enfance (avant l'âge de 18 ans) et a des répercussions sur le développement de l’individu (QI<70). La pathogénie de la déficience intellectuelle reste obscure et dans 50 % des cas, la cause n’est pas connue. Dix pour-cent (10 %) des cas de la déficience intellectuelle seraient liés à des gènes localisés sur le chromosome X, avec une mutation transmise par les mères et affectant principalement les garçons. Parmi les 931 gènes du chromosome X, seulement 114 gènes ont été identifiés comme gènes de déficience intellectuelle. Le dernier (le gène SSR4) fut caractérisé en mars 2014. À l’heure des technologies du séquençage de haut débit, le laboratoire de génétique moléculaire de l’hôpital Necker de Paris s'est doté d’une plateforme d’identification de mutation génétique humaine par séquençage à haut débit permettant le diagnostic des maladies rares. L’objectif de mon travail de thèse était d’appliquer l’approche du séquençage à très haut débit (technique SOLiD) dans l’identification de nouveaux gènes de la déficience intellectuelle liée au chromosome X chez des familles ayant des garçons atteints de déficience intellectuelle non-syndromique, d’identifier les mutations des gènes qui sont déjà connus et d’en discuter la corrélation génotype-phénotype. L’approche que j’ai utilisée dans cette étude est le diagnostic génétique par séquençage à haut débit de l’exome du chromosome X de vingt sujets appartenant à dix familles (X-LID) françaises. La procédure consiste à capturer l’exome du chromosome X des patients atteints, à l’enrichir par la technologie Rain-Dance, puis à le séquencer dans notre plateforme avec un séquenceur à haut débit de la technologie SOLiD5500 afin d’analyser les résultats et pour ne retenir que les nouvelles mutations et commenter leur pouvoir pathogène. Cette étude a mis en évidence de nouvelles mutations dans 21 gènes, dont neuf gènes ne sont pas encore décrits parmi les gènes X-LID et a révélé l’importance de l’hétérogénéité génétique tout en relevant la possibilité de l’effet des charges mutationnelles et le rôle gènes modificateurs. Certaines nouvelles mutations, nous les avons identifiées dans des gènes connus pour leur implication dans la déficience intellectuelle et les avons publiées durant les études doctorales. Pour confirmer la causalité des nouveaux gènes ayant muté chez les familles atteintes, des études fonctionnelles supplémentaires in vivo doivent être appliquées tout en suivant les publications sur le même sujet afin de comparer avec des cas similaires. / X linked Intellectual deficiency (X - LID); formerly X-LMR (X Linked Mental Retardation) is a common pathology (3 % of the population). Intellectual Deficiency (ID) is the most frequent cause of serious handicap in children and young adults. Defining features of ID include an overall intelligence quotient (IQ) of less than 70 together with associated functional deficits in adaptive behavior (such as daily living, social and communication skills), which manifest before18 years of age. ID pathogenesis remains obscure and 50% of cases have no known cause. Ten percent of the intellectual intellectual deficiency would be related to genes located on the X chromosome, and subsequently inherited by affected boys. Among the 931 genes of the X chromosome, only 114 genes have been identified as X-LID genes. The last (SSR4 gene) was characterized in March 2014. At the time of the Next Generation Sequencing (NGS), the laboratory of molecular genetics of Necker hospital in Paris is equipped with a platform for the identification of human genetic mutation by high-throughput sequencing for the diagnosis of rare diseases. The objective of my thesis work was to seek new genes for X linked intellectual deficiency in families with non-syndromes cognitive disorder affected boys and to identify mutations in the genes that are already known and to discuss the genotype, phenotype correlation. The approach that I have used in this study is genetic diagnosis by high-throughput sequencing of chromosome X exomes of 20 subjects belonging to ten X-LID French families. The procedure is to capture and enrich the exome of the X chromosome of patients, then to sequence it in our platform with a high throughput sequencer of SOLid technology then analyze the results and retain that new mutations to discuss their pathogenity. This study has highlighted new mutations in 21 genes, including nine that are not yet described among the X-LID genes. Some new mutations, we identified in genes known through their involvement in cognitive impairment were published during my doctoral studies. To confirm causality of new genes that were found mutated in families, additional studies in vivo must be applied while following the literature to make comparisons with similar cases.

Submitted by Cássia Santos (cassia.bcufg@gmail.com) on 2017-08-01T10:55:18Z No. of bitstreams: 2 Dissertação -Telma Raimundo do Nascimento - 2017.pdf: 3272578 bytes, checksum: 87ac8a05858908fcfd871273b6d77c5b (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) / Approved for entry into archive by Luciana Ferreira (lucgeral@gmail.com) on 2017-08-01T15:17:05Z (GMT) No. of bitstreams: 2 Dissertação -Telma Raimundo do Nascimento - 2017.pdf: 3272578 bytes, checksum: 87ac8a05858908fcfd871273b6d77c5b (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) / Made available in DSpace on 2017-08-01T15:17:05Z (GMT). No. of bitstreams: 2 Dissertação -Telma Raimundo do Nascimento - 2017.pdf: 3272578 bytes, checksum: 87ac8a05858908fcfd871273b6d77c5b (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5) Previous issue date: 2017-06-26 / The present research analyzes the initial pedagogical evaluation for the identification of the specific educational needs of students with intellectual deficiency of elementary education in the Municipal Education Network of Goiânia. The objective of the research was to identify how this initial assessment process occurs and whether this evaluation contributes to the learning of these students. The theoretical perspective of the research was based on the Historical Materialism Dialectic for the apprehension of the historical reality in which the student with intellectual deficiency is inserted; In the Historical-Cultural Theory and in the Foundations of Defectology that conceives the student with intellectual deficiency as a subject that has qualitative specificities; In the conceptions of inclusion and in the right to school of all and in the diagnostic, formative and mediator evaluation as a subsidy for the attendance of the specific needs of the students. The research field was composed of 05 (five) schools of the Municipal Network of Goiânia, each representing a Regional Education Coordination of said network. The research participants were 10 (ten) teachers - 02 (two) teachers per school - and in the schools that have the multifunctional resource room, there were 01 (one) regular classroom teacher and 01 (one) Resource room and at the school that does not have the resource room, 01 (one) regular classroom teacher and 01 (one) coordinating teacher participated. The instrument of data collection was the semi-structured interview, followed by transcription of the content. The methodology used was the Content Analysis and Bardin Thematic Analysis technique. The research revealed that the initial pedagogical evaluation carried out by teachers does not contribute to the learning of these students. A theoretical-methodological contradiction was identified in the participants' discourses, evidencing that even at a theoretical level, the inclusion of the school is not clear and internalized by the teachers, and the delegation to other professionals is the initial pedagogical evaluation of students with intellectual disabilities. The research pointed out the need to carry out a diagnostic, formative and mediator evaluation, with action in the Proximal Development Zone of the student with intellectual disability. As an educational product, the research presents an Assessment Framework for the initial pedagogical evaluation of students with intellectual disabilities, aiming to offer the indicative teachers to perform a diagnostic, formative and mediator evaluation. / A presente pesquisa analisa a avaliação pedagógica inicial para a identificação das necessidades educacionais específicas de alunos com deficiência intelectual do ensino fundamental na Rede Municipal de Educação de Goiânia. O objetivo da pesquisa foi identificar como ocorre esse processo de avaliação inicial e se esta avaliação contribui para a aprendizagem dos referidos alunos. A perspectiva teórica da pesquisa pautou-se no Materialismo Histórico Dialético para a apreensão da realidade histórica na qual o aluno com deficiência intelectual está inserido; na Teoria Histórico-Cultural e nos Fundamentos da Defectologia que concebe o aluno com deficiência intelectual como um sujeito que possui especificidades qualitativas; nas concepções de inclusão e no direito de escolarização de todos e na avaliação diagnóstica, formativa e mediadora como subsídio para o atendimento das necessidades específicas dos alunos. O campo da pesquisa foi composto por 05 (cinco) escolas da Rede Municipal de Goiânia, cada uma representando uma Coordenadoria Regional de Educação da referida rede. Os participantes da pesquisa foram 10 (dez) professores – 02 (dois) professores por escola –, sendo que nas escolas que possuem a sala de recursos multifuncionais, participaram 01 (um) professor da sala de aula regular e 01 (um) professor da sala de recursos e na escola que não possui a sala de recursos, participaram 01 (um) professor da sala de aula regular e 01 (um) professor coordenador. O instrumento de coleta de dados foi a entrevista semi-estruturada, seguida de transcrição do conteúdo. A metodologia utilizada foi a Análise de Conteúdos e a técnica de Análise Temática de Bardin. A pesquisa revelou que a avaliação pedagógica inicial realizada pelos professores não contribui para a aprendizagem desses alunos. Foi identificada uma contradição teórico-metodológica nos discursos dos participantes, evidenciando que mesmo em nível teórico a inclusão escolar não está clara e internalizada pelos professores, havendo, ainda, a delegação a outros profissionais a avaliação pedagógica inicial dos alunos com deficiência intelectual. A pesquisa apontou a necessidade de realização de uma avaliação diagnóstica, formativa e mediadora, com atuação na Zona de Desenvolvimento Proximal do aluno com deficiência intelectual. Como produto educacional, a pesquisa apresenta um Referencial Avaliativo para a realização da avaliação inicial pedagógica de alunos com deficiência intelectual, visando oferecer aos professores indicativos para a realização de uma avaliação diagnóstica, formativa e mediadora.

Orientador: Danilo Moretti-Ferreira / Resumo: As ACs são alterações visíveis nos cromossomos, classificadas como numéricas e estruturais. Atualmente o grande desafio da genética clínica é classificar e associar a relevância clínica dos desequilíbrios genéticos ao fenótipo dos portadores. O trabalho tem como objetivo principal caracterizar desequilíbrio genômico sem diagnóstico sindrômico previamente descritos pelas técnicas de citogenética clássica, molecular visando apurar os pontos de quebras e genes inseridos na região cromossômica alterada por meio da citogenômica em estudos de casos. Foram feitas análises por citogenética (bandamento GTG), citogenética molecular (FISH) e citogenômica (array-CGH) em três pacientes com malformações congênitas não-sindrômicas para definição diagnóstica e maior conhecimento sobre a correlação genótipo-fenótipo. Foram redigidos estudos de casos de três pacientes portadores de MCs, atraso do desenvolvimento e deficiência intelectual. O primeiro copilado de caso trata-se de paciente do sexo feminino com anomalias esqueléticas, deficiência intelectual e atraso do desenvolvimento. O cariótipo da paciente é 46,XX[11]/47,XX,+mar[9]. A análise de array-CGH revelou dois ganhos/duplicações nas bandas cromossômicas 6p11.2q12 (10.335 Mb de tamanho) e 6q14.1q14.3 (10.765 Mb de tamanho). Por meio da técnica da FISH e os resultados do array-CGH a região duplicada 6q14.1q14.3 encontra-se inserida em um cromossomo marcador, oriundo do cromossomo 6. Os sinais clínicos descritos na paciente foram semelhan... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: The ACs are visible changes in the chromosomes, classified as numerical and structural. Currently the great challenge of clinical genetics is to classify and associate the clinical relevance of genetic imbalances with the phenotype of the carriers. The main objective of this work is to characterize genomic imbalance without syndromic diagnosis previously described by the classical and molecular cytogenetic techniques, in order to determine the breakpoints and genes inserted in the chromosomal region altered by cytogenetics in case studies. Cytogenetics (GTG banding), molecular cytogenetics (FISH) and cytogenetics (array-CGH) were performed in three patients with non-syndromic congenital malformations for diagnostic definition and greater knowledge on genotype-phenotype correlation. Case studies of three patients with MCs, developmental delay and intellectual disability were written. The first case file is a female patient with skeletal anomalies, intellectual disability and developmental delay. The patient's karyotype is 46, XX [11] / 47, XX, + sea [9]. The array-CGH analysis revealed two gains / doublings in the chromosomal bands 6p11.2q12 (10,335 Mb in size) and 6q14.1q14.3 (10,765 Mb in size). Through the FISH technique and the results of the array-CGH the duplicate region 6q14.1q14.3 is inserted in a chromosome marker, coming from chromosome 6. The clinical signs described in the patient were similar to other patients with duplication of the region 6q14. The genes PGM3, M... (Complete abstract click electronic access below) / Mestre