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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
311

A inclusão do estudante com deficiência intelectual na educação superior do IFRS Bento Gonçalves : um olhar sobre a mediação docente

Accorsi, Maria Isabel 13 June 2016 (has links)
Esta dissertação tem como principal objetivo analisar o processo de inclusão de um estudante com deficiência intelectual (DI) na Educação Superior Tecnológica do Instituto Federal de Educação, Ciência e Tecnologia do Rio Grande do Sul, Campus Bento Gonçalves, tendo como foco a mediação docente. O aporte teórico foi constituído pelo estudo do conceito e características da deficiência intelectual, com sustentação de autores como Mantoan (2006) e Pletsch (2014); sobre conceitos e reflexões da educação inclusiva no contexto da educação básica e da educação superior, com Carvalho (2009), Baptista (2002), Beyer (2010), Magalhães (2006) e Mittler (2003); e nas contribuições de Vygotsky para educação, amparada em seus trabalhos sobre a Defectologia e a Mediação, com apoio de autores como Rego (2012), La Taille (1992) e Beyer (1996). Para executar essa pesquisa de ordem qualitativa, conduziu-se uma investigação utilizando como estratégia um estudo de caso, composto por entrevistas semiestruturadas e análise de documentos. Para tanto, foram ouvidos sete professores que lecionaram disciplinas para o estudante com DI e o próprio estudante. Também foram analisados os principais documentos da instituição que abordam as questões do acesso e da permanência de pessoas com deficiência na educação superior. Os dados obtidos na entrevista realizada com os professores foram organizados em três categorias que viabilizaram uma análise mais detalhada das falas: concepção de aprendizagem, ação docente e interação. A análise dos dados foi realizada com base na análise de conteúdo de Bardin (2000). Os documentos e a entrevista com o estudante foram analisados, resumidos e integrados às análises das três categorias. Os resultados obtidos no estudo demonstraram a dificuldade que a presença de um estudante com DI na educação superior desencadeia no processo de ensino, já consolidado, dos professores. Também revelou que algumas mudanças são necessárias na ação pedagógica do professor para que a mediação docente aconteça. A conclusão estabelece a importância da mediação docente em sala de aula para promover a aprendizagem do estudante com deficiência intelectual e identifica que a mediação docente pode ser pensada a partir do entrelaçamento de uma concepção de aprendizagem que compreenda a possibilidade da construção de vias alternativas para a aprendizagem e desenvolvimento de pessoas com deficiência e de uma ação docente planejada, que busque favorecer o aluno no seu processo de aprendizagem por meio de interações intencionais, contínuas e edificadoras. / Submitted by Ana Guimarães Pereira (agpereir@ucs.br) on 2016-09-21T19:04:26Z No. of bitstreams: 1 Dissertacao Maria Isabel Accorsi.pdf: 1798593 bytes, checksum: 033fadc433d741e815abf71784355605 (MD5) / Made available in DSpace on 2016-09-21T19:04:26Z (GMT). No. of bitstreams: 1 Dissertacao Maria Isabel Accorsi.pdf: 1798593 bytes, checksum: 033fadc433d741e815abf71784355605 (MD5) Previous issue date: 2016-09-21 / This dissertation aims to analyze the process of inclusion of a student with intellectual disabilities (ID) in the Technological Higher Education of the Federal Institute of Education, Science and Rio Grande Technology South Campus Bento Gonçalves, with a focus on teaching mediation. The theoretical contribution was made by the concept of the study and intellectual disability characteristics, with support of authors like Mantoan (2006) and Pletsch (2014); on concepts and reflections of inclusive education in the context of basic education and higher education, with Carvalho (2009), Baptist (2002), Beyer (2010), Magellan (2006) and Mittler (2003); and the contributions of Vygotsky for education, based on its work on Defectology and mediation, with the support of authors as Rego (2012), La Taille (1992) and Beyer (1996). To perform this qualitative research was conducted an investigation using as a case study strategy, composed of semi-structured interviews and document analysis. Therefore were heard seven teachers who teach for students with ID and the student himself. The main documents of the institution that approach the issues of access and retention of people with a disability in higher education Have also been analyzed. The data obtained in the interview with the teachers were organized into three categories that enabled a more detailed analysis of the speeches: design of learning, teaching action and interaction. Data analysis was based on Bardin content analysis (2000). The documents and the interview with the student were analyzed, summarized and integrated into the analysis of the three categories. The results of the study demonstrated the difficulty that the presence of a student with DI in higher education sets off in the teaching process, already consolidated, teachers. Also reveals that some changes are needed in the teacher's pedagogic action so that the teaching mediation happen. The conclusion establishes the importance of teaching mediation in the classroom to promote learning of the intellectual disabled student and identifies the teacher's mediation can be thought from the interweaving of a conception of learning to understand the possibility of building alternative pathways learning and development of people with a disability and a teacher planned action, that seeketh favor the student in the learning process by means of intentional, continuous and builders interactions.
312

The Efficacy of Utilizing the Adaptive Behavior Inventory for Children for Educational Planning Purposes

Tiritilli, Wayne E. (Wayne Ernest) 05 1900 (has links)
The study investigated adaptive behavior, as measured by the Adaptive Behavior Inventory for Children (ABIC), in diagnosing mental retardation among elementary school age children who were referred for special education services. Specifically, the study attempted to determine whether or not those children diagnosed as not mentally retarded and denied special education services on the basis of the ABIC data were statistically different, on the variables of intellectual development, academic achievement, and classroom behavior, from those children who were diagnosed mentally retarded and accepted for special education services on the basis of the ABIC data. Further, the study investigated the relationship between adaptive behavior and the prediction of academic achievement in elementary school age children.
313

Caracterização de alterações epigenéticas no gene JARID1C e desequilíbrios genéticos como causas do retardo mental ligado ao x de etiologia idiopática / Characterization of epigenetic alterations in JARID1C gene and genetic imbalance as causes of X-linked mental retardation of idiopathic etiology

Natalia Fintelman Rodrigues 17 February 2011 (has links)
Fundação Carlos Chagas Filho de Amparo a Pesquisa do Estado do Rio de Janeiro / O retardo mental (RM) é caracterizado por um funcionamento intelectual significantemente abaixo da média (QI<70). A prevalência de RM varia entre estudos epidemiológicos, sendo estimada em 2-3% da população mundial, constituindo assim, um dos mais importantes problemas de saúde pública. Há um consenso geral de que o RM é mais comum no sexo masculino, um achado atribuído às numerosas mutações nos genes encontrados no cromossomo X, levando ao retardo mental ligado ao X (RMLX). Dentre os genes presentes no cromossomo X, o Jumonji AT-rich interactive domain IC (JARID1C) foi recentemente identificado como um potencial candidato etiológico do RM, quando mutado. O JARID1C codifica uma proteína que atua como uma desmetilase da lisina 4 da histona H3 (H3K4), imprescindível para a regulação epigenética. Tão recente como a identificação do gene JARID1C, é a descoberta de que mudanças no número de cópias de sequências de DNA, caracterizadas por microdeleções e microduplicações, poderiam ser consideradas como razões funcionalmente importantes de RMLX. Atualmente, cerca de 5-10% dos casos de RM em homens são reconhecidos por ocorrerem devido a estas variações do número de cópias no cromossomo X. Neste estudo, investigamos mutações no gene JARID1C, através do rastreamento dos éxons 9, 11, 12, 13, 15 e 16, em 121 homens de famílias com RM provavelmente ligado ao X. Paralelamente, realizamos a análise da variação do número de cópias em 16 genes localizados no cromossomo X através da técnica de MLPA no mesmo grupo de pacientes. Esta metodologia consiste em uma amplificação múltipla que detecta variações no número de cópias de até 50 sequências diferentes de DNA genômico, sendo capaz de distinguir sequências que diferem em apenas um nucleotídeo. O DNA genômico foi extraído a partir de sangue periférico e as amostras foram amplificadas pela técnica de PCR, seguida da análise por sequenciamento direto. Foram identificadas três variantes na sequência do gene JARID1C entre os pacientes analisados: a variante intrônica 2243+11 G>T, que esteve presente em 67% dos pacientes, a variante silenciosa c.1794C>G e a mutação inédita nonsense c.2172C>A, ambas presentes em 0,82% dos indivíduos investigados. A análise através do MLPA revelou uma duplicação em um dos pacientes envolvendo as sondas referentes ao gene GDI1 e ao gene HUWE1. Este trabalho expande o estudo de mutações no gene JARID1C para a população brasileira ereforça a importância da triagem de mutações neste gene em homens portadores de RM familiar de origem idiopática, assim como, é primeiro relato científico relativo à investigação de variações no número de cópias de genes localizados no cromossomo X em homens brasileiros com RM, através da técnica de MLPA. / Mental retardation (MR) is defined as a disability characterized by significant below average intellectual functioning (IQ>70). The prevalence of MR varies between epidemiological studies, estimated at 2-3% of the population, thus constituting a major public health problem. There is a general consensus that MR is more common in males, a finding attributed, in part, to mutations in the genes located on the X chromosome, leading to an X-linked mental retardation (XLMR). Among all the genes present on X chromosome, Jumonji AT-rich interactive domain IC (JARID1C) was recently identified as aetiologic potential candidate of MR, when mutated. The JARID1C gene encodes a protein that acts as a histone demethylase specific for histone 3 lysine 4 (H3K4) and it is indispensable for the epigenetic regulation. As recently as the identification of the JARID1C gene, it is the discovery that changes in the number of copies of DNA sequences, characterized by microdeletions and microduplications, could be regarded as functionally important reasons to XLMR. Currently, about 5-10% of men MR cases are known to occur due to these variations in the number of copies of chromosome X. In this study we investigated mutations in the JARID1C gene by screening of exons 9, 11, 12, 13, 15 and 16 in 121 patients from families with X-linked MR. At the same time we analyzed the variation in the number of copies in 16 genes located in X chromosome through the MLPA technique. This metodology consists of a multiplex amplification that detects variations in the number of copies up to 50 different genomic DNA sequences, being able to distinguish sequences that differ by only one nucleotide. Genomic DNA was extracted from peripheral blood and the samples were amplified by PCR followed by direct sequencing analysis. We identified three sequence variants among 121 patients. The intronic variant c.2243 +11 G> T, which was present in 67% of patients analyzed, the silent variant c.1794C> G and the novel nonsense mutation c.2172C> A, which was present in 0,82% of patients analyzed. The MLPA analysis revealed that the patient 58 exhibited a duplication involving probes for the GDI1 gene and the HUWE1 gene, resulting in an increase in the number of copies of this gene. This work expands the study of mutations in the JARID1C gene for the Brazilian population and reinforces the importance of screening for mutations in this gene in men with idiopathic mental retardation, and it is the first scientific report on the investigation of variations in the number of copies in genes located on chromosome X in Brazilian men with MR using the MLPA technique.
314

Integrace dětí s mentálním postižením v mateřské škole / Integration children with mental retardation inside of nursey schools

BROŽOVÁ, Pavlína January 2009 (has links)
Everyone is a unique personality with the right to full life, which includes, together with the love and recognition of the right to education. Children with mental disabilities are evolving slowly, but it does not mean that they are less sensitive, perhaps on the contrary. Integration, as well as other other topics, not only fans, who have highlighted a opěvují, but also the defendant who completely reject it. Not even one vytknout view anyone of these people. The success of integration depends on several factors dependent on each other. Among the various factors affecting the integration of organization and preparedness are all actors in this process. Inherent in the readiness of people is not only an integrated, but also integration as such. According to the research hypothesis H1 is the position of specialized childcare facilities is positive, thereby refuted hypothesis. Hypothesis H2 clearly confirmed that the parents want to integrate their children with mental disabilities in mainstream nursery schools. Neither hypothesis H3 is not confirmed, since the position of senior staff of nursery schools for children with mental retardation in Ceske Budejovice is as positive as senior staff of nursery schools in Jindrichuv Hradec. It added that although the position of the integration as a whole is positive, as regards the integration of children with mental disabilities and then it is welcome, but only in the lighter forms of disability.
315

Křesťanská etika jako téma náboženské výchovy mentálně handicapovaných osob / Christian Ethics as a Theme for Religious Educating Mentally Handicapped Persons

PŘÍBORSKÁ, Tereza January 2009 (has links)
This paper focuses on the possibilities of religious-pedagogy developing moral actions of the mentally handicapped mainly through the Ten Commandments. The theoretical part defines the basic terminology, divisions and specifications of special pedagogy, psychopedia, didactics of mental retardation, religious pedagogy, didactics of ethic education and Christian moral. The practical part deals with methodical procedures of religious education compiled into a didactic project, specifically didactic applications. The basics origin from the Ten Commandments as characterized in KKC. With regards to development psychology, didactics of mental retardation and the evaluation of the didactic project, the most suitable possibilities of religious-pedagogy developing moral actions seems to be the religious pedagogy of integrated education of Franz Kett and Esther Kaufmann.
316

La violence institutionnelle comme mode d’ajustement de filière : ethnographie et lecture goffmanienne d’une institution médico-sociale / Institutional violence as a method for creating a self-perpetuating pattern : study and interpretation of a medico-social institution based on the social theories of Goffman

Dargère, Christophe 18 February 2011 (has links)
Notre société possède une vaste coulisse contenant nombre d’individus considérés comme improductifs, déviants, inadaptés. Un partie de cette coulisse a pour fonction de contenir ces individus, et de les maintenir, parfois une vie durant, à la périphérie de notre évolution sociétale, dans des espaces n’ayant qu’une porosité réduite voir nulle avec la matrice sociale de référence. Ce processus de maintien repose sur la logique de filière : institution pour enfants, puis pour adolescents, puis pour adultes travailleurs, puis maison de retraite adaptée. La stabilisation de cette population dans ces cantonnements se fabrique avec les effets pervers du fonctionnement institutionnel, et notamment avec la violence institutionnelle qui régule ce fonctionnement. Pour illustrer cette idée, et tenter de décortiquer cette violence (issue d’une commande utopique, d’une mission originellement impossible à mettre en place) qui entrave les rouages de tout établissement « spécialisé », notre travail de recherche propose de mettre en perspective cette violence institutionnelle, inhérente au fonctionnement d’un institut-médico-professionnel recevant des adolescents placés et orientés par les instances officielles pour « déficience intellectuelle légère ». Cette étude est une ethnographie de terrain, puisque la méthode de travail repose exclusivement sur une observation participante. L’auteur, endossant la mission d’instituteur spécialisé, a passé six ans dans la structure avec ce statut, avant de l’observer pendant deux autres années, consignant sur un carnet de bord des scènes de vie quotidienne se déroulant dans l’institution (salle de classe, couloirs, salle du personnel, salle de réunion, réfectoire, …), mais aussi à l’extérieur de l’institution (rue, espaces divers, …). Inspiré par la sociologie d’Erving Goffman, cette analyse institutionnelle qualifie la structure selon des concepts goffmaniens (institution totale, institution totalitaire), des concepts de l’école de Chicago réajustés (institution bâtarde), voire des concepts élaborés (institution stigmate). Nous proposons de démontrer comment la promiscuité entre les usagers, l’hétérogénéité de la population, la complexité de la mission confiée à l’institution, la sanction du placement institutionnel, et la condition du personnel fabriquent un ensemble complexe, inextricable, pathogène, bridant l’évolution du pensionnaire de l’institution médico-sociale, « l’ajustant » à la filière suivante, et le maintenant dans une coulisse sociale ne lui offrant pas de perspective échappatoire, ni de retour vers « la société mère ». / In our society there is a vast wing containing a number of individuals who are considered unproductive, abnormal or maladjusted. Part of its function is to contain and maintain these individuals, sometimes for an entire lifetime, on the edges of our society's evolution, in spaces, which have only limited or no contact with mainstream society. This process of maintenance follows a chain of logic: an institution for children, likewise for teenagers, then for working adults, then an adapted nursing home. The stabilisation of this population within this system, perversely, is facilitated by function of the institution, and in particular by the culture of institutional violence through which it is regulated. To illustrate this, and to try to analyse this form of violence, which derives from a utopian order, from a mission which is fundamentally impossible to implement, and which hinders the wheels of every 'specialised' establishment: the present research puts into perspective the institutional violence, inherent, as it is, in the operation of an institut-medico-professional (a state special needs training facility) which receives teenagers who have been placed there by officials for 'slight mental retardation'. This research is an insider-study, as the method of research derives exclusively from participatory-observation. The author spent six years working as a Special Needs Teacher inside the establishment studied; then, for a further two years, systematically recorded into his logbook scenes of daily life, which took place within this institution (e.g. in classrooms, corridors, the staff room, meeting rooms, the cafeteria). Inspired by the social theories of Erving Goffman, this institutional analysis describes the target in terms of Goffman's concepts of “Total Institutions”, adjusted concepts from the Chicago School (“Bastard Institutions”), and elaborated concepts of “Stigma Institution”. This research proposes to demonstrate how the proximity and heterogeneity of the inmates, the complexity of the mission entrusted to the institution, the sanction of institutionalising a child, and the working conditions of the staff, all have resulted in a combination which is complex, pathogenic and intractable. Thus it restrains the evolution of the inmates of the institut-medico-professional, it “adjusts” them to follow along within the system, and places them within a social wing, which offers them neither any perspective on how to escape, nor any path to return to the “mainstream society”.
317

Exploring the nature of oppression as experienced by people with learning disabilities

Jeyacheya, D. Z. January 2015 (has links)
Aim: The principal aim of this qualitative research study is to gain a clearer understanding of oppression as experienced by People with Learning Disabilities (PWLD). In particular, this study investigated: 1) the nature of oppression - the typical kinds of oppression PWLD face during the course of their everyday lives; 2) the causes of their oppressive experiences: 3) the impact these oppressive experiences can have on their quality of life; and 4) their reaction - the strategies PWLD employ to prevent further oppression. Rationale: Despite policies of deinstitutionalisation since the 1980s, many PWLD have not found social integration easy and continue to endure oppressive experiences in community-based settings. The nature/extent of this social problem has often been overlooked by researchers and practitioners. Methods: This research was conducted using interpretive phenomenology as a methodology; an approach which influenced the study’s design, method of data collection and strategy for analysing the rich qualitative findings. Semi-structured interviews were carried out across two sample populations; a group of PWLD (N=11) and a group of community-based practitioners/carers (N=11). The participants were selected through purposive sampling and the qualitative data was analysed using a specific Interpretive Phenomenological Analysis (IPA) process. Findings: PWLD remain a deeply oppressed social group. Respondents reported experiencing multiple forms of oppression, which seem to interact in complex ways and be present throughout the course of their lives. The two key super-ordinate themes (most dominant forms of oppression experienced by PWLD) emerging from the process of IPA appear to be: 1) The life-long effects of marginalisation (social exclusion, powerlessness and existing as a socio-economic underclass) and 2) Multiple forms of victimisation (coping with exploitation, intimidation and abuse, both overt and subtle, from the public, family members and at times practitioners). Respondents believe that the underlying cause of their oppressive experiences is society’s negative perception. Negative attitudes and beliefs arise from oppressive social forces such as: the use of diagnostic labels, segregated special needs education and limited opportunities for employment. These are experiences which respondents assert often do little more than spoil their social identity as human beings. Conclusion: The findings confirm that PWLD living in the community continue to encounter negative social experiences which are pervasive. This research attempts to draw together and make sense of these experiences in terms of the concept of oppression. Through gaining a clearer understanding of the marginalised and victimised status of PWLD policy makers will be more informed about how to respond to their social and economic needs, and in turn help alleviate their experiences of oppression.
318

Vzdělávání žáků s mentálním postižením pomocí iPadů / Education of children with mental disorder with iPad

Soukupová, Klára January 2017 (has links)
(in English): The goal of this thesis is to analyze mainly advantages of iPad use during lectures at special primary schools. In addition, the thesis takes a look at disadvantages of this style of education. The theoretical part includes the first four chapters. The main information source for this part is expert literature. The first step presents the basic terms from the field of education. The next step presents important information about mental retardation and autistic spectrum disorders, including the specific aspects of education of children with such mental disorders. Following are the characteristics of the iPad devices and the history of the device and its manufacturer, the Apple company. This part also includes other information and communication technology used for educational purposes at regular as well as special schools. Last chapter of this part excerpts advantages and disadvantages of iPad listed in used expert literature. The practical part uses the method of qualitative analysis, in the form of semi-structured interview to find out which positive and negative effects can iPad usage have for both parties involved - children and teachers. The analysis builds on the foundation laid in the theoretical part, checking how the answeres of the interviewees correspond to the contemporary...
319

A inclusão do estudante com deficiência intelectual na educação superior do IFRS Bento Gonçalves : um olhar sobre a mediação docente

Accorsi, Maria Isabel 13 June 2016 (has links)
Esta dissertação tem como principal objetivo analisar o processo de inclusão de um estudante com deficiência intelectual (DI) na Educação Superior Tecnológica do Instituto Federal de Educação, Ciência e Tecnologia do Rio Grande do Sul, Campus Bento Gonçalves, tendo como foco a mediação docente. O aporte teórico foi constituído pelo estudo do conceito e características da deficiência intelectual, com sustentação de autores como Mantoan (2006) e Pletsch (2014); sobre conceitos e reflexões da educação inclusiva no contexto da educação básica e da educação superior, com Carvalho (2009), Baptista (2002), Beyer (2010), Magalhães (2006) e Mittler (2003); e nas contribuições de Vygotsky para educação, amparada em seus trabalhos sobre a Defectologia e a Mediação, com apoio de autores como Rego (2012), La Taille (1992) e Beyer (1996). Para executar essa pesquisa de ordem qualitativa, conduziu-se uma investigação utilizando como estratégia um estudo de caso, composto por entrevistas semiestruturadas e análise de documentos. Para tanto, foram ouvidos sete professores que lecionaram disciplinas para o estudante com DI e o próprio estudante. Também foram analisados os principais documentos da instituição que abordam as questões do acesso e da permanência de pessoas com deficiência na educação superior. Os dados obtidos na entrevista realizada com os professores foram organizados em três categorias que viabilizaram uma análise mais detalhada das falas: concepção de aprendizagem, ação docente e interação. A análise dos dados foi realizada com base na análise de conteúdo de Bardin (2000). Os documentos e a entrevista com o estudante foram analisados, resumidos e integrados às análises das três categorias. Os resultados obtidos no estudo demonstraram a dificuldade que a presença de um estudante com DI na educação superior desencadeia no processo de ensino, já consolidado, dos professores. Também revelou que algumas mudanças são necessárias na ação pedagógica do professor para que a mediação docente aconteça. A conclusão estabelece a importância da mediação docente em sala de aula para promover a aprendizagem do estudante com deficiência intelectual e identifica que a mediação docente pode ser pensada a partir do entrelaçamento de uma concepção de aprendizagem que compreenda a possibilidade da construção de vias alternativas para a aprendizagem e desenvolvimento de pessoas com deficiência e de uma ação docente planejada, que busque favorecer o aluno no seu processo de aprendizagem por meio de interações intencionais, contínuas e edificadoras. / This dissertation aims to analyze the process of inclusion of a student with intellectual disabilities (ID) in the Technological Higher Education of the Federal Institute of Education, Science and Rio Grande Technology South Campus Bento Gonçalves, with a focus on teaching mediation. The theoretical contribution was made by the concept of the study and intellectual disability characteristics, with support of authors like Mantoan (2006) and Pletsch (2014); on concepts and reflections of inclusive education in the context of basic education and higher education, with Carvalho (2009), Baptist (2002), Beyer (2010), Magellan (2006) and Mittler (2003); and the contributions of Vygotsky for education, based on its work on Defectology and mediation, with the support of authors as Rego (2012), La Taille (1992) and Beyer (1996). To perform this qualitative research was conducted an investigation using as a case study strategy, composed of semi-structured interviews and document analysis. Therefore were heard seven teachers who teach for students with ID and the student himself. The main documents of the institution that approach the issues of access and retention of people with a disability in higher education Have also been analyzed. The data obtained in the interview with the teachers were organized into three categories that enabled a more detailed analysis of the speeches: design of learning, teaching action and interaction. Data analysis was based on Bardin content analysis (2000). The documents and the interview with the student were analyzed, summarized and integrated into the analysis of the three categories. The results of the study demonstrated the difficulty that the presence of a student with DI in higher education sets off in the teaching process, already consolidated, teachers. Also reveals that some changes are needed in the teacher's pedagogic action so that the teaching mediation happen. The conclusion establishes the importance of teaching mediation in the classroom to promote learning of the intellectual disabled student and identifies the teacher's mediation can be thought from the interweaving of a conception of learning to understand the possibility of building alternative pathways learning and development of people with a disability and a teacher planned action, that seeketh favor the student in the learning process by means of intentional, continuous and builders interactions.
320

Molekulárně genetická analýza u pacientů s podezřením na kryptické přestavby. / Molecular Genetic Analysis in Patients Suspected of Cryptic Rearrangements.

Šolc, Roman January 2010 (has links)
Such chromosomal rearrangements, which cannot be detected by using of cytogenetic banding of metaphase chromosomes, i.e. chromosomes smaller than 3 - 5 Mb, and therefore modern molecular genetic methods are used to detect them, are called "cryptic rearrangements". Their important role in human pathology is more and more significant. By using of the multiplex ligation-probe dependent amplification method (MLPA) we examined a group of 50 probands with idiopathic mental retardation. A cryptic rearrangement was found at 8 probands (16 %), at 6 of them it was demonstrably causal. Then we examined a group of 40 probands suspected of gene SHOX pathology. A cryptic rearrangement was found at 17 probands (42.5 %) and at 8 of them it was demonstrably causal. Presence of small deletion founded isolated at 7 probands was verified in a population set, but without a positive result. An analysis of mutations was made too.

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