A presente pesquisa volta-se para analisar as políticas públicas da educação inclusiva, especificamente, as que se referem sobre as adaptações curriculares para os alunos com deficiência intelectual pertencentes à rede pública de ensino do Município de Macapá, no Amapá. Para tanto, foram realizadas pesquisas bibliográficas e documentais. As pesquisas bibliográficas e documental deram-se em livros, publicações online, documentos oficiais de âmbito nacional e documentos que orientam a educação especial do município de Macapá. E ainda, nas legislações educacionais vigentes que apresentam proposta de educação inclusiva. Didaticamente os resultados das pesquisas foram organizados em capítulos, sendo assim distribuídos: (1) Educação Inclusiva ao aluno com deficiência intelectual: trajetória histórica e definições. Neste foi realizada uma abordagem sobre o percurso histórico da inclusão. Buscou-se definir a educação inclusiva e fez-se também uma abordagem a respeito da deficiência intelectual e a inclusão. (2) Políticas Educacionais Inclusivas, que aborda sobre os movimentos internacionais referentes à proposta de educação inclusiva, bem como a legislação da inclusão no Brasil e no município de Macapá. Focou-se na estrutura organizacional do atendimento educacional especializado do município de Macapá; além das modalidades e formas de atendimento e os princípios norteadores e a base legal do atendimento educacional especializado. (3) Adaptação curricular com foco na inclusão, que aborda sobre o currículo, suas conceituações e definições. Na sequência, discorrese sobre o porquê da necessidade das adaptações curriculares. Fez-se também referência sobre adaptação curricular com foco na inclusão, referindo-se às adaptações de grande e pequeno porte. Discorre-se sobre o currículo escolar e o aluno com deficiência intelectual, procurando levantar questões importantes sobre as mudanças necessárias ao currículo, para melhor atender o aluno com deficiência intelectual. / This research is directed toward analyzing the public policies of inclusive education, specifically, those related to curricular adaptations for students with intellectual deficiencies who are in the public school system of the Municipality of Macapá, in Amapá. To do this bibliographic and documental research was carried out. Bibliographic and documental research was done in books, online publications, official documents of national range and documents which orient special education of the municipality of Macapá. Also researched were current educational legislations which present the proposal of inclusive education. Didactically the results of the research were organized in chapters thus distributed: (1) Inclusive education for the intellectually deficient student: historical trajectory and definitions. In this chapter the historical journey of inclusion was dealt with. We sought to define inclusive education and also deal with intellectual deficiency and inclusion. (2) Inclusive Educational Policies, which deals with the international movements with regard to the proposal of inclusive education as well as with the legislation of inclusion in Brazil and in the municipality of Macapá. The focus was on the organizational structure of specialized educational services in the municipality of Macapá; as well as on the modalities and forms of service and the guiding principles and the legal base of specialized educational services. (3) Curricular adaptation focusing on inclusion, which deals with the curriculum, its conceptualizations and definitions. In sequence, we discuss the why of the need for curricular adaptations. Reference was also made to curricular adaptation focusing on inclusion, referring to the large and small adaptations. We discuss the school curriculum and the student with intellectual deficiencies, seeking to raise important issues about the changes that are necessary in order to better serve the student with intellectual deficiencies.

Made available in DSpace on 2016-03-15T19:39:49Z (GMT). No. of bitstreams: 1 Anai Cristina da Luz Stelmachuk.pdf: 699409 bytes, checksum: b7517ef93fdb5d26e8381b019993e56b (MD5) Previous issue date: 2011-12-05 / The object of this research was to investigate the behavior of regular teachers as well as school-unit supervisors in relation to students with intellectual deficiencies, having in view the presence of an assistant in the classroom. The theoretical fundaments were based both on specialized literature as well as documented research regarding the Brazilian legislation and official publications on Special Education. The field research followed the qualitative approach, and had as subjects 10 school supervisors and 16 regular teachers from the first years in Elementary School at the Public Municipal Network from the town União da Vitória -Paraná State. For the data collection individual questionnaires answered by the supervisors and teachers were used, and semi-structured interviews were performed with 30% of the supervisors and 31.25% of the teachers. The answers were analyzed and arranged into four categories: meaning of school inclusion, concept of intellectual deficiency, and educational aims in relation to the intellectually deficient student, facilities and difficulties involving the inclusion of such students in the regular schools and conditions for the support to the inclusion. The collected data was analyzed in accordance with the theoretical referential enabling a better understanding of the theme which was object of this study. It was verified that the assistant teachers are requested the Municipal Board of Education by the schools; 88.46% of the subjects in this research give directions to the assistants. 69.23% feel partially prepared and 23.07% feel prepared for such a position. Teachers consider that students with intellectual deficiency present a greater necessity of support in the academic area. Both, supervisors and teachers consider that the support of an assistant teacher in the classroom reflects positively in the academic and social development of the students, evidencing safeguards in relation to the development of the autonomy. The subjects questioned the profile and educational background of the assistants and suggested continuing education for such professionals as well as for themselves. / A pesquisa teve por objetivo investigar como professores regentes e supervisores de unidades escolares têm atuado em relação aos alunos com deficiência intelectual, tendo em sala de aula a presença de um auxiliar. A fundamentação teórica baseou-se em literatura especializada e pesquisa documental referente à legislação brasileira e publicações oficiais sobre Educação Especial. A pesquisa de campo seguiu a abordagem qualitativa, tendo como sujeitos 10 supervisores escolares e 16 professoras regentes de classes dos anos iniciais do Ensino Fundamental da Rede Pública Municipal da cidade de União da Vitória - PR. Para a coleta de dados foram utilizados questionários respondidos individualmente pelos supervisores e professoras e entrevistas semi-estruturadas realizadas com 30% dos supervisores e 31,25% das professoras. As respostas foram analisadas e organizadas em quatro categorias: significado de inclusão escolar, conceito de deficiência intelectual e objetivo educacional em relação ao aluno com deficiência intelectual, facilidades e dificuldades da inclusão desse aluno nas escolas e condições de apoio à inclusão. Os dados obtidos foram analisados de acordo com o referencial teórico possibilitando uma melhor compreensão do tema. Constatou-se que os auxiliares são solicitados à Secretaria Municipal da Educação pelas escolas; 88,46% dos sujeitos da pesquisa orientam os auxiliares. 69,23% sentem-se parcialmente preparados e 23,07% sentem-se preparados para tal função. Professoras consideram que seus alunos com deficiência intelectual apresentam maior necessidade de apoio na área acadêmica. Supervisores e professoras consideram que o apoio do auxiliar em sala de aula reflete positivamente no desenvolvimento acadêmico e social dos alunos, evidenciando ressalvas em relação ao desenvolvimento da autonomia. Os sujeitos questionam o perfil e a formação dos auxiliares e sugerem formação continuada para estes e para si.

La déficience intellectuelle (DI) est définie comme un dysfonctionnement intellectuel général inférieur à la moyenne, qui s'accompagne de limitations significatives du fonctionnement adaptatif (DSM-V). Il s'agit d'un handicap fréquent qui concerne près de 3% de la population générale. L'identification de l'étiologie d'une DI est une question primordiale car elle permet d'optimiser la prise en charge des patients sans risque de passer à côté d'une cause curable, et d'évaluer le risque de récidive dans la famille afin d'offrir un conseil génétique pour les grossesses à venir. Malgré les récents progrès, l'étiologie de la maladie reste inconnue dans près de 40% des cas. Le démembrement des causes génétiques et la compréhension des bases physiopathologiques des DI constituent donc un grand défi scientifique et médical. Par ailleurs, l'identification des gènes impliqués dans les DI et le décryptage des processus cellulaires sous-jacents à ces phénotypes sont une approche de choix pour étudier le développement et la plasticité cérébrale chez l'homme d'une part et entrevoir le développement de nouvelles stratégies thérapeutiques d'autre part. Le travail de thèse présenté dans ce manuscrit s'inscrit dans cette thématique de recherche et a porté sur l'analyse, par la méthode de Whole Exome Sequencing (WES), de cinq familles indépendantes dans lesquelles ségrège une forme syndromique de DI. La première partie détaille les résultats obtenus pour l'analyse de trois familles consanguines dans lesquelles ségrège une DI autosomique récessive. La seconde partie présente l'étude de deux familles indépendantes dont les enfants atteints présentent une clinique très semblable. Au total, ce mémoire décrit l'identification de i) deux gènes précédemment associés à la DI (WDR62 et AP4M1), ii) deux gènes candidats (RAD54B et HERC2), potentiels modificateurs des symptômes observés, puis iii) la définition d'un nouveau mode d'hérédité, et enfin iv) la caractérisation de deux nouveaux gènes impliqués dans la DI (TTI2 et NONO) suivie des études fonctionnelles des efiets des mutations sur les cellules de patients et l'analyse d'un modèle murin Nonogt. / Intellectual deficiency (ID) is characterized by a broad range of deficits in higher brain functions that result in significant limitations in adaptive and cognitive capacities required for competence in daily living, communication, social interaction and integration, self-direction, and work (DSM-V). ID affects approximately 3% of the population. Identifying ID causes is essential to improve patients' care services with no risk to miss a curable cause, but also to provide genetic counselling to the family for future pregnancies. Little is known about the biological bases of these conditions. Indeed, despite recent advances in cytogenetic and molecular genetics, the cause of the mental handicap remains unexplained in 40% of the cases. Understanding the molecular bases of these disorders is therefore an important medical challenge for the next years. Also, ID genes identification and analysis of the cellular mechanisms underlying these conditions should provide significant insight into the molecular and cellular pathways involved in cognition and may lead to new therapeutic trials aiming at improving the daily living of these patients and their families. The PhD work presented here report on the analysis, using Whole Exome Sequencing (WES), of five different families presenting with syndromic ID. The first part develops results from the analysis of three consanguineous families with an autosomal recessive form of ID. The second part presents the study of 2 unrelated male ID patients who presented the same clinical features. Overall, this work allowed the identification of i) two genes previously associated with ID (WDR62 and AP4M1), ii) two candidate genes (RAD54B and HERC2), potential modifiers of the phenotype, then iii) the definition of a novel hereditary mode, and finally iv) the characterization of two new genes of ID (TTI2 and NONO) followed by the functional analysis of mutations effects in patients' cells and the Nonogt mouse model.

La déficience intellectuelle (DI) définit un groupe de conditions génétiquement hétérogènes caractérisées par l’apparition de troubles cognitifs précoces chez l’enfant. Elle affecte 1-3% de la population dans les pays industrialisés. La prévalence de la DI est beaucoup plus élevée ailleurs dans le monde, en raison de facteurs sociodémographiques comme le manque de ressources dans le système de santé, la pauvreté et la consanguinité. Des facteurs non-génétiques sont mis en cause dans l’étiologie de la DI ; on estime qu’environ 25% des cas de DI sont d’origine génétique. Traditionnellement, les bases moléculaires de la DI ont été investiguées par des analyses cytogénétiques, les approches de cartographie génétique et le séquençage de gènes candidats ; ces techniques de génétiques classiques sont encore mises à rude épreuve dans l’analyse de maladies complexes comme la DI. La DI liée à l’X a été particulièrement étudiée, avec plus d’une centaine de gènes identifiés uniquement sur le chromosome X. Des mutations hétérozygotes composites sont mises en évidence dans la DI autosomique, dans le contexte d’unions non-consanguines. L’occurrence de ce type de mutations est rare, chez des individus non-apparentés, de sorte que les mutations dominantes de novo sont plus courantes. Des mutations homozygotes sont attendues dans les populations consanguines ou marquées par un effet fondateur. En fait, les bases moléculaires de la DI autosomique ont été presqu’exclusivement étudiées dans le contexte de populations avec des forts taux de consanguinité. L’origine de la DI demeure encore inconnue dans environ 60 % des cas diagnostiqués. En l’absence de facteurs environnementaux associés à la DI chez ces individus, il est possible d’envisager que des facteurs génétiques non identifiés entrent en jeu dans ces cas de DI inexpliqués. Dans ce projet de recherche, nous voulions explorer l’origine génétique de la DI, dans vingt familles, où une transmission de la maladie selon un mode autosomique récessif est suspectée. Nous avons mis de l’avant les techniques de séquençage de nouvelle génération, afin de mettre en évidence les déterminants génétiques de la DI, à l’échelle du génome humain. En fait, nous avons priorisé la capture et le séquençage de l’exome; soient la totalité des régions codantes du génome humain et leurs sites d’épissage flanquants. Dans nos analyses, nous avons ciblé les variants qui ne sont pas rapportés trop fréquemment dans différentes bases de données d’individus contrôles, ces mutations rares cadrent mieux avec une condition comme la DI. Nous avons porté une attention particulière aux mutations autosomiques récessives (homozygotes et hétérozygotes composites) ; nous avons confirmé que ces mutations ségréguent avec une transmission récessive dans la famille à l’étude. Nous avons identifié des mutations dans des gènes pouvant être à l’origine de la DI, dans certaines des familles analysées ; nous avons validé biologiquement l'impact fonctionnel des mutations dans ces gènes candidats, afin de confirmer leur implication dans la pathophysiologie de la DI. Nous avons élucidé les bases moléculaires de la DI dans huit des familles analysées. Nous avons identifié le second cas de patients avec syndrome de cassure chromosomique de Varsovie, caractérisé par des dysfonctions de l’ARN hélicase DDX11. Nous avons montré qu’une perte de l’activité de TBC1D7, une des sous-unités régulatrice du complexe TSC1-TSC2, est à l’origine de la pathologie dans une famille avec DI et mégalencéphalie. Nous avons mis en évidence des mutations pathogéniques dans le gène ASNS, codant pour l’Asparagine synthétase, chez des patients présentant une microcéphalie congénitale et une forme progressive d’encéphalopathie. Nous avons montré que des dysfonctions dans la protéine mitochondriale MAGMAS sont mises en cause dans une condition caractérisée par un retard prononcé dans le développement associé à une forme sévère de dysplasie squelettique. Nous avons identifié une mutation tronquant dans SPTBN2, codant pour la protéine spinocerebellar ataxia 5, dans une famille avec DI et ataxie cérébelleuse. Nous avons également mis en évidence une mutation dans PIGN, un gène impliqué dans la voie de biosynthèse des ancres de glycosylphosphatidylinositol , pouvant être à l’origine de la maladie chez des individus avec épilepsie et hypotonie. Par ailleurs, nous avons identifié une mutation - perte de fonction dans CLPB, codant pour une protéine chaperonne mitochondriale, dans une famille avec encéphalopathie néonatale, hyperekplexie et acidurie 3-méthylglutaconique. Le potentiel diagnostic des techniques de séquençage de nouvelle génération est indéniable ; ces technologies vont révolutionner l’univers de la génétique moléculaire, en permettant d’explorer les bases génétiques des maladies complexes comme la DI. / Intellectual disability (ID) regroups greatly heterogeneous conditions that are characterized by early-onset cognitive impairment. ID affects about 1-3% of Western populations; but its prevalence is much higher in deprived regions of the world where socio-demographic factors like poor healthcare, lack of resources and parental consanguinity prevail. Non-genetic factors are involved in the etiology of ID; approximately 25% of ID cases are of genetic origin. Traditionally, the molecular basis of ID have been assessed through cytogenetic analyses, genetic mapping and candidate gene approaches. These classical genetic tools are still put to the test in the study of complex diseases like ID. Until recently, X-linked ID cases were the main focus of studies on ID with more than hundred ID genes identified only on the X chromosome. Compound heterozygous mutations are identified in autosomal forms of ID, in the context of non-consanguineous unions. However, the occurrence of such mutations is rare in outbred populations, so that dominant de novo mutations are most common in unrelated individuals. Homozygous mutations are expected in consanguineous unions or in populations marked by a founder effect. In fact, the molecular bases of autosomic recessive ID have been almost exclusively studied in populations with high consanguinity rates. ID remains unsolved in more than 60% of patients. In the absence of environmental factors associated with ID in these individuals, it is possible to consider that unidentified genetic factors are involved in these unexplained ID cases. In this research project, we used next generation sequencing technologies to highlight the genetic causes of ID in twenty families were an autosomal recessive mode of inheritance is expected. We prioritized the use of whole-exome sequencing, namely all coding exons in the genome of this individual. In our analyses, we filtered out variants that were too common in control individuals to describe a rare condition like ID. We focussed our attention on rare autosomic recessive varaiants (homozygous and compound heterozygous), these mutations were confirmed by Sanger re-sequencing to segregate with an autosomal recessive mode of inheritance in the family. We identified mutations in candidate genes for ID in some of the family analysed, we validated the functional impact of the mutations in these genes to confirm their involvement in the pathophysiology of ID in the family studied. We explained the molecular basis of ID in eight of the families studied. We identified the second case of Warsaw-Breakage-Syndrome, a rare genetic disorder characterised by dysfunction of the RNA helicase DDX11. We showed that disruption in TBC1D7, a functional subunit of the TSC1-TSC2 protein complex, cause ID and megalencephaly. We demonstrated that ASNS, the Asparagine Synthetase gene, is defective in patients with congenital microcephaly and progressive encephalopathy. We showed that the gene coding for the mitochondrial protein MAGMAS is involved in the pathophysiology of a condition characterised by developmental delay and severe skeletal dysplasia. We identified a truncating mutation in SPTBN2, encoding for the spinocerebellar ataxia 5 proteins, in a family with ID and spinocerellar ataxia. We also identified a mutation in a gene involved in the biosynthetic pathway of glycosylphosphatidylinositol anchors; the mutation in PIGN may cause the epilepsy and hypotonia features observed in the affected individuals of that family. Finally, we identified a loss of function mutation in CLPB, coding for a mitochondrial chaperone, in individuals with severe encephalopathy, hypereklexia and 3-methylglutaconic aciduria. The diagnostic potential of next generation sequencing technologies is undeniable. These technologies will revolutionize the world of molecular genetics; they will help deciphering the molecular basis of complex diseases like ID.

Anomalies de structure du génome et Déficience Intellectuelle : Recherche des gènes candidats de Déficience intellectuelle en utilisant l'analyse chromosomique sur microréseau d'ADN pangénomique 180K et l'analyse chromosomique sur microréseau d'ADN de haute résolution 1M ciblée des gènes candidats de Déficience intellectuelle. L'analyse chromosomique sur microréseau d'ADN (ACM) de haute résolution est une innovation technologique puissante afin de détecter les aberrations chromosomiques concernant les variations du nombre de copies. En utilisant l'ACM 180K, l'ACM 1M et la PCR quantitative, nous avons identifié les 5 variations du nombre de copies (CNV) intragéniques pathogènes de novo impliquant les gènes : RUNX1T1, KIAA1468, FABP7, ZEB2 (syndrome de Mowat-Wilson) et ANKRD11 (syndrome de KBG). Les 5 patients ayant une DI et une dysmorphie faciale. L'ACM 180K a révélé une délétion d'une taille de 92 kb emportant le gène KIAA1468 candidat pour le syndrome de West chez un enfant de 3 ans présentant une DI sévère et une encéphalopathie épileptique infantile précoce. Le criblage des mutations du gène KIAA1468 a été réalisé chez 35 patients atteints de syndrome de West. Un variant intronique c.2761-7 T>C et un variant faux-sens hérité de la mère c.3547 G>A avec signification clinque inconnue ont été identifiés. En utilisant des approches par l'ACM 1M de haute résolution chez 45 patients atteints de DI idiopathique modérée à sévère, un seul CNV causal a été identifié, une délétion intragénique d'une taille de 28.37 kb du gène ZEB2. Notre étude confirme une fréquence très faible des délétions/duplications intragéniques avec la détection d'une seule aberration chromosomique (1/45). En conclusion, si la fréquence des mutations ponctuelles est élevée, nous avons également souligné l'application de la technique de séquençage à haut débit avec un rendement diagnostique jusqu'à 45%-55% des cas de DI sévère idiopathique chez lesquels aucun CNV n'a été détecté sur ACM / Chromosomal structural abnormalities and Intellectual Disability : In search of intellectual disability candidate genes by using pangenomic comparative genomic hybridization 180 K and high resolution comparative genomic hybridization 1M targeting intellectual disability candidate gene.High resolution microarray-based comparative genomic hybridization (a-CGH) has been a powerful technical innovation in order to detect submicroscopic chromosomal aberrations related to copy number variations. By using a-CGH 180K, 1M high resolution a-CGH and quantitative PCR, we have identified 5 pathogenic intragenic copy number variations (CNVs) de novo : RUNX1T1, KIAA1468, FABP7, ZEB2 (Mowat-Wilson syndrome) and ANKRD11 (KBG syndrome). All five patients had intellectual disability (ID) and facial dysmorphism. Interestingly, a-CGH 180K has revealed a 92 kb deletion of a candidate gene KIAA1468 for West syndrome in a 3 year-old boy with severe ID and early infantile epileptic encephalopathy. Mutational screening for candidate gene KIAA1468 was performed in 35 patients with West syndrome. An intronic variant c.2761-7 T>C and a non synonymous maternally inherited variant c.3547 G>A with unknown clinical significance were identified. By using 1M high-resolution a-CGH approach in 45 patients presenting moderate to severe idiopathic ID, only one causal CNV was identified, a 28.37 kb intragenic ZEB2 deletion. Our study has confirmed the low frequency of intragenic deletion/duplication with the detection of only one chromosomal aberration (1/45). In conclusion, providing that the high frequency of intragenic point mutation, we also stressed the application of next-generation sequencing technology with 45-55% diagnostic yield in patients with idiopathic severe ID in case of no apparent CNV(s) on high-resolution a-CGH

Made available in DSpace on 2016-04-28T20:56:32Z (GMT). No. of bitstreams: 1 Kaciana Nascimento da Silveira Rosa.pdf: 679237 bytes, checksum: b43fdd84fb8140566d58fab031530716 (MD5) Previous issue date: 2012-10-05 / Conselho Nacional de Desenvolvimento Científico e Tecnológico / This thesis consists in a study about the pedagogical experiences developed by the educator and doctor Edouard Séguin (1812 - 1880) in the process of teaching persons with intellectual deficiency during the age XIX. To the comprehension about the historical significance of the theoretic and practical material left by Edouard Séguin, it was necessary, initially, to do a historical study about the aspects relating to the special education area during the age XVIII e XIX, the period which others doctors also stood out in the treatment to persons with intellectual deficiency. Because it is a study about the theoretic character, it is considered the theoretic production in the special education area, observing the reading and the analysis of materials about the life, studies and experiences developed by Edouard Séguin, having as primary source the texts of his own authorship. It is taken as basis the two works which contains all of his work done with children and young with intellectual deficiency - Traitement moral, hygiène et éducation des idiots et des autres enfants arriérés and Idiocy and Its Treatment by the Physiological Method tracing its contributions to the education of persons with intellectual deficiency. Lastly, the most important aspects of Seguin s work which points to the constitution of special education are systematized, in particular about the education of person with intellectual deficiency / Esta dissertação constitui-se de um estudo sobre as práticas pedagógicas desenvolvidas pelo educador e médico Edouard Séguin (1812 - 1880) no processo de ensino de pessoas com deficiência intelectual durante o século XIX. Para a compreensão da significação histórica do material teórico e prático deixado por Edouard Séguin, fez-se necessário, inicialmente, realizar um estudo histórico dos aspectos relativos à área da educação especial durante os séculos XVIII e XIX, período em que outros médicos também se destacaram no atendimento a pessoas com deficiência intelectual. Por se tratar de um estudo de caráter teórico, considerase a produção teórica na área da educação especial, contemplando a leitura e a análise de materiais sobre a vida, os estudos e as experiências desenvolvidas por Edouard Séguin, tendo como fonte primária os textos de sua própria autoria. Tomase como base as duas obras de Séguin que contêm todo seu trabalho realizado com crianças e jovens com deficiência intelectual - Traitement moral, hygiène et éducation des idiots et des autres enfants arriérés e Idiocy and its Treatment by the Physiological Method delineando as contribuições destas para a educação de pessoas com deficiência intelectual. Por fim, são sistematizados os aspectos mais importantes do trabalho de Séguin que apontam para a constituição da educação especial, em particular da educação de pessoas com deficiência intelectual

Made available in DSpace on 2016-08-19T18:16:06Z (GMT). No. of bitstreams: 1 Dissertacao Maria Juliana.pdf: 1730875 bytes, checksum: bb81b2862c7cfd5a83d783a11b1172e9 (MD5) Previous issue date: 2012-06-04 / INTRODUCTION: Intellectual disability (ID) occurs in 2-3% of the population and it has a heterogeneous etiology (genetic, environmental or multifactorial). The diagnosis of DI requires use of validated instruments, unavailable for children younger than 5 years, for which reserves the term global developmental delay (GDD). It is essential specialized assessment to the people with GDD /ID, isolated or syndromic, as well as to obtain a detailed overview of factors that may be associated with its onset. OBJECTIVES: To analyze cases of GDD / ID in children and adolescents who attended APAE St. Louis describing the sociodemographic characteristics, conditions of pregnancy, childbirth, the newborn, the clinical evolution and monitoring. METHODS: A quantitative cross-sectional descriptive study. It was collected primary data of 156 patients evaluated at the Medical Genetics Service from this institution in December 2009 to December 2010, and used Windows Microsoft Office Excel 2008 for tabulation and Epi Info 3.5.1 to calculate simple frequencies. RESULTS: It were observed: mean age 36 months, the ratio between males and females of 1.2:1; journal to offset the capital, 20% of cases; parental consanguinity in 4.5%, similar cases in the family 7 %. The mothers, mostly had between 20 and 34 years old, exclusively home occupation, with at least primary education and until two pregnancies. Pregnancy: begun antenatal care until the third month in 63.5% (only 11% in the first month), 14% ethanol exposure, the majority denies exposure to tobacco or drugs inappropriate for pregnancy; and in 60% were referred some eventful; 17.3%, antenatal diagnosis of congenital malformations or infections. Delivery: 88.5% in hospital, 72% at term and 21.8% preterm, 54.5% in vaginal delivery and cesarean section in 35.3%, 86% in cephalic presentation. Conditions of newborns: 39% had hypoxia suspicion, 46.8% required ICU admission, and 44.5% had been hospitalized for more than eight days. Anomalies of the central nervous system (CNS) were found in 61.5%, including those that could be observed by simply measuring head circumference - microcephaly (50%), macrocephaly (5%). Most had no access to basic exams to diagnostic investigation (CNS imaging, karyotype, hearing and vision assessment). CONCLUSIONS: Reiterate the lack of studies on the subject, the inequity of access to diagnosis and treatment, the need for qualification of antenatal and childbirth care, and of the implementation in fact of the Integral Attention National Policy on Clinical Genetics. / INTRODUÇÃO: A deficiência intelectual (DI) ocorre em 2 a 3% da população e tem etiologia heterogênea (genética, ambiental ou multifatorial). O diagnóstico de DI requer uso de instrumentos validados, indisponíveis para crianças com idade inferior a 5 anos, para os quais reserva-se o termo atraso global do desenvolvimento (AGD). É imprescindível a avaliação especializada das pessoas com AGD/DI, isolado ou sindrômico, bem como a obtenção de um panorama detalhado dos fatores que possam se associar ao seu aparecimento. OBJETIVOS: Analisar os casos de AGD/DI em crianças e adolescentes que frequentaram a APAE São Luís descrevendo as características sociodemográficas, as condições da gestação, do parto, do recém-nascido, da evolução clínica e do acompanhamento. METODOLOGIA: Estudo quantitativo descritivo do tipo transversal. Foi realizada coleta de dados primários dos 156 pacientes atendidos no serviço de Genética Médica desta instituição em dezembro de 2009 a dezembro de 2010 e, utilizados Windows Excel Microsoft Office 2008 para tabulação e Epi Info 3.5.1 para cálculo de frequências simples. RESULTADOS: Foram observados: idade média de 36 meses, razão entre os sexos masculino e feminino de 1,2:1; deslocamento periódico para a capital, em 20% dos casos; consanguinidade parental de 4,5%; casos semelhantes na família em 7%. As mães: maioria entre 20 e 34anos, do lar, com pelo menos o Ensino Fundamental Completo e até duas gestações. Gestação: início do pré-natal até o terceiro mês em 63,5% (só 11% ainda no primeiro mês); 14% de exposição ao etanol, maioria nega exposição ao tabaco ou a fármacos impróprios; em 60%, houve intercorrências; em 17,3%, diagnósticos pré-natais de malformações ou infecções congênitas. Parto: 88,5% em hospital; 72% a termo e 21,8% pré-termos; via vaginal em 54,5% e cesárea em 35,3%; apresentação cefálica em 86%. Condições do recém-nato: 39% tem suspeita de hipóxia; 46,8% necessitaram de internação em UTI e, 44,5% estiveram internados por mais de oito dias. Anomalias do sistema nervoso central (SNC) foram encontradas em 61,5%, incluindo aquelas que puderam ser observadas pelas simples medida de perímetro cefálico - microcefalia (50%), macrocefalia (5%). A maioria não teve acesso aos exames complementares fundamentais à investigação diagnóstica (imagem de SNC, cariótipo, avaliação auditiva e oftalmológica). CONCLUSÕES: Reitera-se a carência de estudos sobre o tema; a iniquidade do acesso ao diagnóstico e ao tratamento; a necessidade de qualificação da assistência ao pré-natal e ao parto e, da implementação de fato da Política Nacional de Atenção Integral em Genética Clínica.

Made available in DSpace on 2014-12-17T14:36:29Z (GMT). No. of bitstreams: 1 NazineideB_TESE.pdf: 1500642 bytes, checksum: 2038a1ae83360b2d4d18b76e2a308660 (MD5) Previous issue date: 2011-11-08 / The focus of this thesis is children's reception to literary texts starting from literary livelihood in an inclusive literary context, looking for the possible evidences that are present in the construction as reader/hearing of literature. Based on a study case, we search the ways of participation of a child (girl) with intellectual deficiency in situations of offering and reception of literary texts, looking for the understanding and explication of some aspects of her processing and the building up of an initial reader. The data were taken starting from observations in moments of reading and story-telling in the period from November to December/2008 and May to June/2009 in a public school of children education, in Natal- Brazil, in which there was a registered student showing intellectual deficiency associated to Down syndrome. As research tools we used: field diary, interview scripts and video recordings. The analyses were based on research from Amarilha (2001, 2006a, 2006b), Bettelheim (2007), Coelho (2008), Iser (1996), Jauss (1979, 1994), Luria (1990a, 1990b), Vygotsky (1991, 1993), Wallon (2007, 2008) amongst others. The research showed that although expressing little verbalization and limited levels of attention, body attitudes, movements and talks of the child under investigation, denounced engagement and rendition to the sonority of the texts shared. These data gives us traces that, under a mediating action, the child with intellectual limitation can turn into a reader/hearing subject of literature, developing a sensitive and a selective attitude towards the literary text. Amongst other aspects, we identified that (1) a conception of deficiency present through the school that recognizes his/her potential of developing and learning (2) the situation of sharing, that favours a relation with the texts through the other, and (3) the relevance of orality providing the semantic paths that help the child in the building up of meaning, presenting themselves as fundamental to her/his viewing of the literary text, and, therefore, the formation of the reader. Thus, recognizing her/his capacity and possibilities, we think it is important to guarantee to the child with intellectual deficiency, a space towards interaction with the fictional text in which the child can learn and live its ludic and interactive character, to enjoy its hearing abilities, benefiting, then, from the aesthetic experience lived, mainly, in collective situations mediated through the more experient reader and shared with her/his different pairs. The research shows yet that, looking after conditions that guarantee a comfortable environment to the story hearings in the classrooms that focus on children education, being aware of a selection and the prosody of stories, the didactic contract, the attention to individual reactions, enlarge the possibility of any child deficient or not to enjoy her/himself as reader/ hearing subject of literature, engaged in its richness and magic / Focalizamos nesta tese a recep??o da crian?a com defici?ncia intelectual ao texto liter?rio, a partir da observa??o de uma viv?ncia liter?ria num contexto escolar inclusivo, evidenciando as possibilidades que se apresentam na sua constru??o como leitora/ouvinte de literatura. Mediante um estudo de caso, investigamos os modos de participa??o dessa crian?a em situa??es de oferta e recep??o de textos liter?rios, buscando compreender e explicitar os aspectos de seu processo de forma??o leitora inicial. Os dados foram levantados a partir de observa??es nos momentos de leitura e de conta??o de hist?rias no per?odo de novembro e dezembro/2008 e maio e junho/2009, numa turma de uma escola de Educa??o Infantil na qual se encontrava matriculada a referida crian?a, cuja defici?ncia intelectual est? associada ? S?ndrome de Down. Como instrumentos de pesquisa foram utilizados: di?rio de campo, roteiros de entrevistas e videograva??es. As an?lises fundamentaram-se nos estudos de Amarilha (2001, 2006a, 2006b), Bettelheim (2007), Coelho (2008), Iser (1996), Jauss (1979, 1994), Luria (1990a, 1990b), Vygotsky (1991, 1993), Wallon (2007, 2008) dentre outros. O estudo mostrou que, embora pouco se expressando verbalmente e, por vezes, apresentando limitados n?veis de aten??o, as atitudes corporais, os movimentos e as falas da crian?a investigada denunciaram engajamento e rendi??o ao apelo da sonoridade dos textos partilhados. Esses dados revelam ind?cios de que, sob o patroc?nio de uma a??o mediadora, a crian?a com defici?ncia intelectual pode constituir-se como uma leitora/ouvinte de literatura, desenvolvendo uma escuta sens?vel, seletiva e atenta ao texto liter?rio. Dentre outros aspectos, identificamos que a concep??o de defici?ncia apresentada pela escola, que reconhece seu potencial de desenvolvimento e de aprendizagem, a situa??o de partilhamento, que favorece o exercitar de diferentes formas de se relacionar com os textos atrav?s do outro, e a relev?ncia da oralidade fornecendo as pistas sem?nticas que auxiliam a crian?a na constru??o de sentidos, apresentam-se como fundamentais para seu acercamento ao texto liter?rio, e, portanto, sua forma??o leitora. Dessa forma, reconhecendo suas capacidades e possibilidades, acreditamos ser importante garantir ? crian?a com defici?ncia intelectual um espa?o para a intera??o com o texto ficcional no qual ela possa aprender a reconhecer e vivenciar o seu car?ter l?dico e interativo, degustar de forma prazerosa a sua escuta, beneficiando-se, assim, da experi?ncia est?tica vivenciada, principalmente quando em situa??es coletivas mediadas pelo leitor mais experiente e partilhadas com seus diferentes pares. O estudo indica ainda que atentar para condi??es que garantam um clima favor?vel ? escuta de hist?rias nas salas de aula da educa??o infantil, como o cuidado com a sele??o da hist?ria e com sua pros?dia, o contrato did?tico, a aten??o ?s rea??es individuais, dentre outras, ampliam as possibilidades para que qualquer crian?a deficiente ou n?o experimente-se como leitora/ouvinte de literatura, usufruindo de sua riqueza e magia

Made available in DSpace on 2016-03-15T19:39:59Z (GMT). No. of bitstreams: 1 Beatriz Tomas da Cruz Filipe.pdf: 472846 bytes, checksum: 4a922eb9ffaba04699908bdb3b7f0a02 (MD5) Previous issue date: 2012-08-27 / Ministério dos Petróleos de Angola / Introduction: Autism is a development disorder with generic designation of Pervasive Developmental Disorders (PDD) according to the criteria of the American Psychiatric Association (DSM-IV). The causes are multiple, which motivates the research in various fields of knowledge. The disorder has its origin in a neurobiological pathogenesis with environmental and genetic causes, or the integration of both. The manifestations are qualitative and quantitative abnormalities that affect the areas of social interaction, communication and behavior. The current literature tends to designate them as Autism Spectrum Disorders (ASD). Among the subjects with intellectual disabilities (ID) the reports on the prevalence of ASD are unclear, ranging from 3 to 50%. This heterogeneity shows the need to determine the possible prevalence in each sample. This determination has practical implications in the care and management of these individuals. Objectives: Adapt the cultural inventory of autistic behavior (ICA) created by Marteleto e Pedremônico (2005) to the population of Angola; evaluate the applicability of the scale for students with special educational needs in Angola; estimate the frequency of symptoms of the autistic behavior by some biological and socio-demographic variables in these students. Methods: The cross-cultural and conceptual adaptation of the ICA, the operational semantics and in relation to the cultural context and lifestyle of the target population of the survey. Results and conclusion: The cultural adaptation of the ICA-BR to the ICA-Angola was easily accomplished with a high rate of general equivalence in the prestest, around 80%; the ICA-Angola applied in the target population proved to be feasible with the training of other professionals in the field; the intellectual disabled students in the sample showed high scores in ICA-Angola; it will be necessary to expand the sample and the confirmation of the diagnosis of the Autism Spectrum Disorders to better evaluate the results took into consideration the evaluation of students with disabilities. / Introdução: O autismo é um distúrbio do desenvolvimento com designação genérica de Transtornos Globais do Desenvolvimento (TGD), de acordo com os critérios da Associação Americana de Psiquiatria (DSM-IV). As causas são múltiplas, o que motiva a investigação em diversas áreas do conhecimento. O transtorno tem em sua origem uma patogênese neurobiológica com causas ambientais, genéticas ou com a integração de ambas. As manifestações são anormalidades qualitativas e quantitativas que afetam as áreas da interação social, comunicacional e comportamental. A literatura atual tende a designá-las como Transtornos do Espectro do Autismo (TEA). No Brasil existem 4 escalas de triagem para TGD traduzidas e validadas, enquanto que em Angola tais instrumentos inexistem. Objetivos: Realizar a adaptação cultural do Inventário de Comportamentos Autísticos (ICA) de Marteleto e Pedremônico (2005) para a população de Angola; avaliar a aplicabilidade da escala adaptada em alunos com necessidades educacionais especiais em Angola; estimar a frequência da sintomalogia dos comportamentos autísticos segundo algumas variáveis biológicas e sociodemográficas nesses alunos. Métodos: A adaptação transcultural levou em consideração a avaliação de equivalência conceitual, a semântica e a operacionalidade em relação ao contexto cultural e estilo de vida da população alvo da pesquisa. Resultados e conclusão: a adaptação cultural do ICA-BR para o ICA-Angola foi facilmente realizada com alta taxa de equivalência geral no pré-teste, de 80%; a aplicação da escala ICA-Angola na população alvo revelou-se factível com possibilidade de treinamento de outros profissionais; os alunos com deficiência intelectual investigados revelaram altas pontuações no ICA-Angola; será necessária a ampliação da amostra e a confirmação do diagnóstico de Transtornos do Espectro do Autismo para melhor avaliação dos resultados.

Made available in DSpace on 2014-08-20T13:48:26Z (GMT). No. of bitstreams: 1 Fabiana_Lasta_Beck_Pires_Tese.pdf: 2153373 bytes, checksum: aedfdfa6b7d189b1b1de29746783a733 (MD5) Previous issue date: 2010-06-14 / This investigation was aimed at planning, implementing and evaluating two embedded interventions. Intervention 1 was addressed to Spanish Language Students and had the purpose of forming a group of these future teachers for the teaching of this language in Special Education; and Intervention 2 was addressed to Persons with Special Educational Needs (PSEN) - Intellectual Deficiency area (ID), with the objective of promoting their learning and development through the teaching of this foreign language (FL). The interventions took place in a Special School in the city of Pelotas/RS and their participants were three groups of volunteer Spanish students (totaling six, during a period of three years) and 13 literate SEN students enrolled in a class of Adult and Young People Education (AYPE). The latter regularly attended the school s professional workshop, being restricted to performing manual tasks, such as cooking and woodwork, among others. The interventions have been based on Vigotski s historical-cultural theory. This researcher has dedicated part of his time to the investigation of learning disabled students, and claimed that the teaching of a foreign language could be an important tool for mental development. Vygotsky (1982c) criticized the way pedagogical action for intellectually deficient students was organized. He believed that schools ended up adapting to student s deficiencies by considering that, due to such deficiencies, they did not have the potential to develop their comprehension and abstraction capacities. Thus schools act at a training level to the detriment of the level of cognitive functions development. Data used to evaluate the interventions have been collected through classroom observations, systematically recorded in a field diary, open-ended questionnaires, semi-structured interviews and work produced by both groups of subjects. Such data have been analyzed through content analysis procedures (MINAYO, 1993). The findings from Intervention 1 suggest that the proposal has contributed to the formation of the prospective teachers in terms of overcoming their fears and insecurity; demystifying preconceptions related to PSEN; developing awareness of the importance of understanding the theories that underline teaching and learning processes; comprehending the importance of collaboration and of acting as a guide to the students; considering planning as a valuable tool, capable of benefiting teacher work as well as student learning. Intervention 2 indicated that the teaching of Spanish to PSEN is feasible and produces cognitive gains, such as: possibility of using higher psychological functions, reflection about their own mental processes (willingness and control); advances in language use (text interpretation and written production); increased interest in learning and higher degree of autonomy; development of self-esteem and receptivity to collaborative work. The findings contribute to the hypothesis that complex activities should be assigned to PSEN, aiming at their potentials rather than to their deficits. The findings also provide subsidies for the discussion about the curriculum of teacher training courses, in terms of emphasizing the importance of inclusion of Special Education themes in them. / Esta pesquisa se propôs a planejar, implementar e avaliar duas intervenções aninhadas. A Intervenção 1, dirigida a acadêmicos do Curso de Letras Espanhol, objetivou formar um grupo de futuros professores para ensino do Espanhol na Educação Especial; e a Intervenção 2, dirigida a Pessoas com Necessidades Educacionais Especiais (PNEE), na área da Deficiência Intelectual (DI), visou a promover aprendizagens e desenvolvimento no grupo participante, a partir do ensino dessa língua estrangeira (LE). As intervenções foram realizadas em uma Escola Especial de Pelotas/RS e dela participaram três grupos de alunos voluntários desse Curso, no decorrer dos três anos (totalizando seis) e 13 alunos com NEE, já alfabetizados e integrados em uma classe de Educação de Jovens e Adultos (EJA). Esses alunos frequentavam a oficina profissionalizante da escola, desenvolvendo apenas trabalhos manuais nas áreas da culinária e da marcenaria, entre outras. A base teórica da pesquisa foi a abordagem histórico-cultural de Vigotski, que dedicou parte de seus estudos para investigar o desenvolvimento de alunos que apresentavam dificuldades relativas à aprendizagem, defendendo a ideia de que o ensino de uma LE pode se constituir em importante ferramenta de desenvolvimento mental. Vygotsky (1982c) criticou a forma como se organizava a ação pedagógica para alunos com DI. Argumentava que a escola, ao considerar que o aluno, em decorrência da deficiência, não tem potencial para desenvolver as capacidades de compreensão e abstração, termina por adaptar-se à deficiência, atuando no nível do treinamento das funções sensoriais e motoras, em detrimento do desenvolvimento das funções cognitivas. Os dados que avaliam a intervenção foram coletados por meio de observações das aulas com registros sistemáticos em diário de campo, questionários com perguntas abertas, entrevistas semiestruturadas e trabalhos produzidos pelos dois grupos de sujeitos e analisados à luz de procedimentos de análise temática (MINAYO, 1993). Em relação à Intervenção 1, os resultados sugerem que a proposta contribuiu para a formação dos futuros docentes, no sentido de: superação do medo e da insegurança; desmistificação de conceitos previamente estabelecidos sobre PNEE; consciência da importância de o professor conhecer as teorias que explicam os processos de ensino e aprendizagem; compreensão da importância da colaboração; percepção da importância de o professor atuar como guia; compreensão do planejamento como uma valiosa ferramenta, capaz de beneficiar tanto o trabalho docente quanto o aprendizado do aluno. A Intervenção 2 indicou que o ensino da Língua Espanhola para PNEE é possível e traz benefícios cognitivos, tais como: possibilidade de uso das funções psicológicas superiores; reflexão sobre os próprios processos mentais (voluntariedade e controle); avanços na área da linguagem (interpretação de textos e produção da escrita); maior interesse em aprender; maior autonomia na aprendizagem; desenvolvimento da autoestima e receptividade em relação ao trabalho colaborativo. Os achados contribuem com a hipótese da necessidade do investimento em atividades complexas, voltadas às potencialidades das PNEE, e não aos seus déficits, e fornecem subsídios para as discussões sobre os currículos dos cursos de licenciatura no que concerne à importância da inclusão da temática da Educação Especial.