O presente trabalho tem como objetivo principal o conhecimento e a compreensão da relação que ex-alunos de escolas especiais mantêm com os seus bairros. Para a realização do estudo, foi proposta a produção de um vídeo aos participantes, tendo também como objetivo secundário uma reflexão sobre esse processo. A investigação parte de cinco perguntas norteadoras: 1) Como se constituiu o universo social dessas pessoas (ex-alunos de uma escola especial) para além dos muros institucionais da escola? 2) Será que a permanência na escola especial dificultou ao aluno o conhecimento de seu bairro e será que a saída da escola proporcionou essa aproximação? 3) Como vivenciaram e ocuparam o espaço do bairro? Quais foram as experiências mais significativas? Em que período da vida ocorreram? 4) Como é para essas pessoas morar na periferia? Será que o contexto comunitário (se existente) favoreceu de algum modo a sua socialização? 5) Em que medida o vídeo auxiliou no conhecimento da realidade vivida pelo participante da pesquisa? O estudo se caracteriza como uma pesquisa qualitativa, de orientação fenomenológica, tendo a pesquisa de tipo etnográfica como referência metodológica e a utilização do vídeo como recurso. Participaram da pesquisa 03 ex-alunos de escola especial: uma do sexo feminino, 23 anos, funcionária de uma empresa de limpeza, e dois do sexo masculino com 24 e 41 anos, ambos trabalhadores de uma oficina abrigada. Foram utilizados como critério de escolha dos participantes a independência na locomoção, que morassem desde criança no bairro e que demonstrassem interesse na participação da pesquisa. A pesquisa ocorreu em três bairros do Município de São Bernardo do Campo: a favela Boa Vista, a Vila Rosa e o Jardim das Orquídeas, esta última situada numa zona de manancial. As gravações dos bairros foram realizadas individualmente: a primeira experiência (piloto) ocorreu em um único encontro, com uma gravação de quinze minutos; a segunda ocorreu em cinco encontros e aproximadamente 60 minutos de gravação; a terceira e última foi realizada em seis encontros e aproximadamente 90 minutos de gravação. A organização do material composta pelas gravações em vídeo, áudio e anotações de campo ocorreu da seguinte forma: transcrição dos materiais (vídeo e áudio), observação das gravações em vídeo, apontamento das cenas/locais gravados e levantamento de temas. A discussão sobre os trabalhos foi feita primeiramente de modo individual e no final foi realizada uma discussão conjunta dos três trabalhos. O que se pode perceber é que cada um dos três participantes apresenta um modo bastante particular de se relacionar com o bairro e com diferentes níveis de integração. Observa-se também que, mesmo após saírem da escola especial, os três participantes mantêm vínculos com pessoas relacionadas a esse universo social. Pode-se perceber também que o contato com os espaços do bairro possibilitou a eles recordações de eventos da infância, assim como as conversas com os vizinhos proporcionaram a revitalização das memórias do passado. O estudo mostra, desse modo, como as pessoas com deficiência mental podem reconstruir as próprias histórias e podem participar da construção da memória coletiva de seus respectivos bairros. / The main objective of the present work is the knowledge and comprehension of the relationship maintained by former students of Special Schools with their neighbourhood. In order to do so, the production of a vídeo was suggested to the participants, with the secondary objective of a reflection about this process. The investigation starts with 5 driving questions: 1) How was the social universe of these people (former students of a Special School) constituted beyond the institutional walls of the school? 2) Has their permanence at a Special School made it difficult for them to know their neighbourhood and their exit made this approach possible? 3) How have they lived and occupied the spaces in their neighbourhood? What were the most significative experiences? Which period of their life did they happen? 4) What is living in the suburbs like for these people? Did the communitary environment (if there is any) somehow favoured their socialization? 5) To what extend has the video filming given support to the knowledge of the reality lived by the participant of this research? This study is characterized by a Qualitative Research, with Phenomenological Approach, having the Etnographic type of research as a methodological reference and the use of video as a mean of investigation. Three (3) former students of Special Schools took part in this research: one female, 23 y.o., who works at a cleaning company; and 2 male, 24 and 41 y.o., both workers at a ?shelter workshop? (professional training and job for disabled). For their selection, the criteria were their independence to move, their living in the neighbourhood since childhood and having showed interest to take part in the research. The survey took place in three districts of São Bernardo do Campo City: Boa Vista, Vila Rosa and Jardim das Orquídeas Slums, this latter placed in a fountainhead reserve (Billings Reservoir). The recordings of the neighbourhood occurred individually: the first experience (pilot) happened in just one meeting, with a recording lasting 15 minutes; the second occurred in 5 meetings and lasted about 60 minutes; the third and last happened in 6 meetings and lasted about 90 minutes. The organization of the material composed by video and audio recordings and field notes was made as follows: material transcriptions (video and audio), observation of the video films and notes about the scenes / places recorded and, at last, the raising of themes. The discussion about the works was made at first individually and in the end there was a discussion about the three works altogether. We may notice that every participant presents a very particular way to relate with his neighbourhood and that there are different levels of integration. We may observe also that, even after leaving Special Schools, the three participants kept connections with the people referred in their social universe. We still may notice that the contact with the places in the neighbourhood has favoured their remembering events from childhood, as well as their conversations with neighbours have favoured the revival of memories from the past. Thus, the study shows how the people with mental deficiency may rebuild their own histories and participate in the construction of the collective memory of their neighbourhoods.

Este trabalho teve o objetivo de estimar a frequência de deficiência mental causada por mutações no cromossomo X entre pacientes do sexo masculino, que constituem casos isolados de deficiência mental. A estratégia adotada foi a determinação do padrão de inativação do cromossomo X nas mães dos afetados, com base (a) nas indicações de que desvios extremos do padrão casual de inativação do cromossomo X têm alta probabilidade de estar relacionados à presença de mutações do cromossomo X e (b) na observação de que a frequência desses desvios está significantemente aumentada em mulheres certamente portadoras de mutações que causam deficiência mental de herança ligada ao X. A vantagem seletiva das células que possuem o alelo não mutado no cromossomo X ativo é uma explicação para tais desvios extremos da inativação do cromossomo X, raramente encontrados na população geral. Selecionamos 115 meninos portadores de deficiência mental moderada a grave associada a outros sinais clínicos, não característicos de síndrome conhecida e que tinham cariótipos normais e teste negativo para a síndrome do cromossomo X frágil; suas genitoras concordaram com a participação no estudo. Esses pacientes foram encaminhados ao Serviço de Aconselhamento Genético do Laboratório de Genética Humana, Departamento de Genética e Biologia Evolutiva, por diferentes serviços médicos, para diagnóstico e orientação quanto a riscos de recorrência na família. O padrão de inativação do cromossomo X nas mães dos afetados foi investigado, com base na metilação diferencial dos alelos do gene AR (Androgen Receptor gene) , no cromossomo X ativo e inativo. As mães de 100 desses meninos se revelaram heterozigóticas quanto à repetição polimórfica CAG do gene AR, requisito do teste para determinar o padrão de inativação do cromossomo X. Onze mulheres (11%) apresentaram desvios extremos do padrão de inativação do X (≥ 98:2), frequência significativamente maior (P = 0.0001; teste exato de Fisher) do que aquela que a literatura registra, em estudo utilizando o mesmo ensaio, entre mulheres adultas da população geral (0,017; IC 95% = 0,007 0,034). A raridade de desvios tão extremos na população geral permite admitir que as mães dos afetados que apresentam tais desvios sejam portadoras de mutação no cromossomo X, que causa a deficiência mental em seus filhos. Sendo assim, estimamos em 11% a frequência de deficiência mental em nossa amostra de 100 meninos casos isolados de deficiência mental (IC 95% = 0,056 0,188), sem incluir a síndrome do X frágil, responsável por 2,5% a 3% da deficiência mental no sexo masculino. Essa nossa estimativa para a proporção de deficiência mental moderada grave ligada ao X entre indivíduos do sexo masculino com DM é da mesma ordem de grandeza daquelas relatadas na literatura, baseadas (a) na frequência da síndrome do X frágil em coortes de homens com deficiência mental e entre famílias com deficiência mental de herança ligada ao X ou (b) nas inferências da prevalência de deficiência mental e de deficiência mental causada por mutações no cromossomo X na população geral masculina. Entretanto, a frequência por nós determinada deve ser uma subestimativa, considerando que os desvios extremos do padrão de inativação ocorrem em apenas um terço das portadoras obrigatórias de mutações que causam deficiência mental com herança ligada ao X. Com base nos resultados deste estudo, consideramos indicada a avaliação do padrão de inativação do cromossomo X em mães de indivíduos do sexo masculino, casos isolados de deficiência mental. A detecção de desvio extremo da inativação deve ser considerada indicativa de deficiência mental de herança ligada ao X, constituindo subsídio para o aconselhamento genético da família e podendo levar á identificação da mutação causadora da deficiência mental. / Nearly a third of obligate carriers of mutations causative of X-linked mental retardation (XLMR) have been reported to have extreme X-inactivation skewing in peripheral blood cells, compared to their non-carrier relatives. Selective advantage of cells with the non-mutated allele on the active X chromosome would explain this skewing. Based on these findings, we used the pattern of X-inactivation in mothers of mentally retarded boys, as a parameter to evaluate the frequency of XLMR among non-familial cases. To determine the X-inactivation pattern in these women, we investigated the methylation status of the AR (Androgen Receptor) alleles in blood cells. We selected 115 boys with moderate to severe mental retardation of unknown cause, who had normal karyotypes and tested negative for fragile X syndrome; the mothers of 100 of these boys were found to be heterozygous for the polymorphic CAG repeat of the AR gene, a requisite of the X-inactivation assay. Eleven women (11%) had extremely skewed X-inactivation (≥ 98:2), a frequency significantly higher (P = 0.0001; Fisher exact test) than the frequency reported for adult women from the general population (1.7%; 95% CI = 0.007 0,034). Assuming that every mother with extremely skewed X-inactivation is a carrier of an X-chromosome mutation that causes mental retardation in her son, the frequency of XLMR in our sample of 100 boys is 11% (95% CI = 0,056 0,188), the fragile X syndrome being excluded. Although these figures are quite in agreement with previous estimations of the frequency of XLMR among mentally retarded men, they might be an underestimation, when it is taken into account that only about a third of obligate carriers of XLMR mutations have highly skewed X inactivation.

This master thesis will concentrate on problems of inclusive education of pupils with mild retardation in primary school. The thesis will be split into two parts, theoretical and practical. In the theoretical part, terms such as mental retardation, inclusion, inclusive education, inclusive school, and inclusive class will be defined, along with other terms which are interconnected with these issues. The theoretical part of the thesis will end with a chapter on education of pupils with mild mental retardation in primary school, elaborating on conditions which are important for successful inclusive education as well as problems and benefits which inclusive education may bring about. The practical part will deal with analyse and description of the process of inclusive education of pupils with mild mental retardation in chosen secondary school in Prague. For gathering the necessary data, qualitative and quantitative methods of research will be used.

The aim of this work is to introduce a new assessment method of children's cognitive abilities, the Cognitive Assessment System 2, to examine its criterion concurrent validity in a population of children with special educational needs and analyze the test profiles of these children. In the theoretical part of the work various assessment tools of children's cognitive abilities are presented. The Cognitive Assessment System 2 is also introduced. In the empirical part concurrent criterion validity of the CAS2 is examined via the correlation between the results of CAS2 and the results of other commonly used intelligence tests - it is examined on a sample of children with specific learning disabilities and children with below- average intelligence or mental retardation. The test profiles of children from both groups are analyzed. It was found that the overall scores in the method CAS2 highly correlate with total scores of the WISC-III in a group of children with a below-average intelligence and mental retardation, and with total scores of the WISC-III or the K-ABC in a group of children with specific learning disabilities. This is considered as evidence of the concurrent criterion validity of the CAS2. It was found that the children with a below-average intellect and mental retardation have balanced...

[pt] O presente estudo objetivou analisar de que modo vêm se efetivando as legislações e as políticas públicas voltadas à garantia do direito à convivência familiar de crianças e adolescentes com deficiência mental e/ou transtorno mental. Durante muito tempo estas crianças e estes adolescentes ficaram fora do foco de preocupações das políticas públicas. Esquecidos em instituições de cunho asilar, comumente ligados à rede filantrópica, ou mesmo escondidos no seio de suas famílias, o fato é que crianças e adolescentes com deficiência e/ou transtorno mental ficaram fadados a uma certa invisibilidade, o que reforçou o desconhecimento que ainda recai sobre eles. Hoje vivemos um novo momento da história no que se refere aos modos de se conceber e agir o cuidado de crianças e adolescentes, que se amparam na Doutrina da Proteção Integral, preconizada pelo Estatuto da Criança e do Adolescente. Depreendem-se daí as diretrizes de centralidade da família, de excepcionalidade das medidas de acolhimento institucional e de co-responsabilidade entre Estado, sociedade e família no que se refere ao cuidado de crianças e adolescentes. No entanto, se ao nível do discurso, há um consenso de que a família é o lugar ideal onde crianças e adolescentes devem ser criados, educados e protegidos, na prática o que se observa é um descompasso entre a importância atribuída ao papel da família e a falta de condições mínimas para que esta possa oferecer aos seus filhos uma vida digna, sobretudo nos casos em que as condições econômicas das famílias são precárias. O cenário de desassistência às famílias se exacerba quando nos referimos à especificidade de crianças e adolescentes que têm deficiência e/ou transtorno mental, e que, por isso, apresentam demandas diferenciadas de cuidados e tratamentos. Na presente dissertação foram analisadas 36 entrevistas realizadas com profissionais referenciados a instituições públicas e privadas, que de algum modo estão envolvidas no cuidado de crianças e adolescentes com deficiência mental e/ou transtorno mental. Estas entrevistas, vale salientar, integram o conjunto de materiais produzidos por duas pesquisas realizadas pelo CIESPI – Centro Internacional de Estudos e Pesquisas sobre a Infância, em convênio com a PUC-Rio – entre os anos de 2006 e 2010 e que ainda não haviam sido exaustivamente analisados. Os resultados apontaram para o fato de que, embora tenham ocorrido progressos importantes nos últimos tempos, ainda há muito que se avançar no sentido de garantir a plena efetivação do direito de crianças e adolescentes com deficiência mental e/ou transtorno mental à convivência familiar. / [en] This study focused on the analysis of the implementation of the laws and public policies aimed at guaranteeing the right of children and adolescents with mental disabilities and/or mental disorders to live in the context of the family. For too long these children and adolescents remained excluded from public policy concerns. Forgotten in closed institutions, often run by the philanthropic sector, or even hidden in the bosom of their families, the fact is that children and adolescents with mental disabilities and / or mental disorders were doomed to a certain invisibility, which reinforced the lack of knowledge that still exists about them. At present, Brazil goes through a new moment in history when it comes to ways of conceiving children and adolescents as well as providing care for them, based on the Doctrine of Full Protection, as recommended by the Statute of the Child and the Adolescent. These changes have favored the emergence of a set of guidelines focusing on three aspects: the family setting as central for child development; residential care as an exceptional measure, and the co-responsibility between state, society and the family for the care of children and adolescents. However, if on the level of discourse, there is a consensus that the family setting is the place where children and adolescents should be raised, educated and protected, in practice what is observed is a mismatch between the importance given to the role of family and lack of minimum conditions to enable it to offer their children a decent life, particularly when these families are poor. The scenario of lack of support to families is exacerbated for those whose children have mental disabilities and / or mental disorders, and consequently need special care and treatment. In this dissertation were analyzed 36 interviews carried out with professionals who work for public and private organizations and are involved in the care of children and adolescents with mental disabilities and / or mental disorder. These interviews were conducted as part of two studies carried out by CIESPI - International Center for Research and Policy on Childhood, in association with PUC-Rio - between the years 2006 and 2010. The results pointed out to the conclusion that, although there have been important advances in recent years, much remains to be done in order to ensure the full realization of these children and adolescents’ rights to remain in their family setting.

La Trisomie 21 ou Syndrome de Down, est due à la présence surnuméraire du chromosome 21 humain (Hsa21), le surdosage génétique qui en résulte provoque différents phénotypes. Cette pathologie est la première cause de retard mental. Notre étude vise à savoir si l’aneuploïdie d’un intervalle génétique, encore non étudié, entraîne des modifications dans la mise en place des processus à l’origine des facultés cognitives. Cet intervalle, entre les gènes Cstb et Prmt2 est porté par le chromosome murin 10 (MMU10) au sein d’une portion homologue à la partie télomérique du Hsa21. Pour cela de nouveaux modèles murins ont été créés, Ms4Yah est monosomique et Ts3Yah est trisomique pour cet intervalle. Le but est donc de caractériser les conséquences de l’aneuploïdie sur le fonctionnement des neurones permettant l’encodage des informations, appelé plasticité synaptique à long terme. Nous avons enregistré ce phénomène au niveau de la communication entre le cortex et le striatum, structures impliquées dans les processus mnémoniques, grâce à la technique électrophysiologique de patch clamp en configuration cellule entière. Ces enregistrements sont faits in vitro sur tranches de cerveaux de souris. Les propriétés électrophysiologiques des NETMs ont été caractérisées. La plasticité synaptique corticostriatale à long terme de type glutamatergique a été étudiée avec des protocoles de stimulation spécifiques, appliqués au niveau cortical. Des protocoles de conditionnement à haute et à basse fréquence ont été utilisés. Nous avons observé que l’aneuploïdie portée par les modèles avait une influence sur la mise en place de la plasticité synaptique corticostriatale à long terme qui est différente en fonction du dosage génétique. Ms4Yah met en place une DLT suite au protocole SHF de même que Ts3Yah. Lorsque le protocole SBF est utilisé Ms4Yah met en place une forme de plasticité à court terme contrairement à Ts3Yah qui présente une DLT. L’intervalle étudié ici jouerait donc un rôle dans le phénotype de la Trisomie 21. Certains gènes de l’intervalle semblent être de bons candidats pour expliquer les phénomènes observés, notamment S100b, Pcbp3 et Trmp2. / Trisomy 21 or Down syndrome is due to a third copy of human chromosome 21 (Hsa21) in the genome, this leads to a global genetic overexpression which results on multiple behavioral phenotypes. This pathology is the first and most common cause of mental retardation. Our study aims to understand whether an aneuploidy of a non-studied genetic interval, included in Hsa21, causes changes in processes mediating intellectual abilities. This interval, between Ctsb and Prmt2, is located on murine chromosome 10 (MMU10) within an homologous portion of the Hsa21 telomeric part. Thus, new mouse models have been engineered, Ms4Yah is monosomic and Ts3Yah trisomic for Cstb-Prmt2 interval. Hence, the aim of this project is to characterized aneuploidy consequences on neuronal functions which lead to information encoding, named long term synaptic plasticity. We have recorded this phenomenon within cortex-striatum neuronal connexion, which is involved in mnemonic processes, using whole-cell patch-clamp electrophysiological technique. Records were made in vitro on mouse horizontal brain slice. We characterized METMs electrophysiological properties. Then, glutamatergic corticostriatal long term synaptic plasticity was studied with specific stimulation protocols applied on the cortex. High and low frequency conditioning protocols were used. We observed that aneuploidy of the models influenced corticostriatal long term synaptic plasticity setting which is different according to the genetic dosage. Ms4Yah showed LTD after HFS protocol like Ts3Yah. But when SBF was applied, Ms4Yah shows a short term plasticity form, conversely Ts3Yah shows anew a LTD. The studied interval may play here a role in phenotype of Trisomy 21. Some of the genes comprised in the Ctsb-Prmt2 interval seemed to be good candidates to explain observed phenotypes, namely S100b, Pcbp3 and Trmp2.

This descriptive study was done to provide information on the number of hours and clinical experience students received during nursing education which might equip them with skills required for mental retardation nursing. Registered Nurses Associations for each province assisted in the study by providing lists of nursing schools in their province. Of the 142 nursing schools having a graduating class in 1969, 140 were studied. The urgency of the problem was shown when it was noted that an estimated 3 percent of the population of Canada were mentally retarded. Several commissions have been done on this topic in the past decade in Canada. Some studies of this general nature have been done in the United States. Review of the literature indicated that no previous studies had been done on this topic in Canada. A questionnaire was constructed to obtain data relating to placement of mental retardation experience, hours of theory and clinical experience provided and the year of nursing education in which the experience occurred. Questionnaires were mailed to the schools, completed by them, and returned. It was found that diploma schools tended to provide between 0 to 8 hours of theory and clinical experience in mental retardation whereas university schools tended to offer up to 12 hours of experience. Most nursing education in mental retardation occurred in pediatrics or psychiatric programs or in combinations of these and other courses. Mental retardation nursing education tended to occur in the next to the last year of the program for all schools. Many schools, however, indicated that mental retardation experience was not included in the school curriculum at all. It appeared that very little theory and clinical experience in mental retardation was being given students enrolled in nursing schools in Canada. The relative lack of planned clinical experience with retarded individuals was surprising. Several problems and limitations were encountered in conducting the study, particularly concerning data collection and the tool used for data collection. The data had to be collected in two phases from two different sources, home schools and affiliate schools, to obtain accurate data. Studies could be done to focus attention on current problems in nursing the mentally retarded, related to the need for inclusion of theory and clinical experience in the curriculum of nursing schools. Studies could also be done to determine time allotment, placement and specific mental retardation content in current nursing programs. Qualitative studies could be done to show the possible effect of staff knowledge of mental retardation on the care provided to mentally retarded patients. This study was an attempt to show the need for review of nursing education programs in relation to the inclusion of mental retardation theory and clinical experience in the curriculum of nursing schools. / Applied Science, Faculty of / Nursing, School of / Graduate

Made available in DSpace on 2017-06-01T18:08:36Z (GMT). No. of bitstreams: 1 Fernando Goes.pdf: 1760346 bytes, checksum: ed153f6a29c7b96797727f151d7498fc (MD5) Previous issue date: 2004-03-18 / The aim of this research was to study psychic presentations in father and/or mother of holder child of special necessities mentally disability, and consequently feelings of rejection/acceptance experienced by those parents, in those cases. Specificly, were analysed the conscious and unconscious behaviors and affections of parents related to those psychics presentations, among which, highlight: the wish of death, the feeling of guilty, the feeling of inferiority, the wish(and behaviors) of remedy and the refusal of reality (negation/disavowal), that were collected in the interviews did with the parents. The Theory of Psycho-analysis gave the opportunity to theoretical grounding to this study, being the parents speech analysed by psycho-analysis interpretation. After the analyse of different psychic presentations related to affections, already mentioned, it was possible to make up an ample point of view about the parents psychic conflict and to establish that it occurs an alternate movement of different psychic presentations, alternating acceptance/rejection about the child with special necessities. Those psychic presentations about the son with mentally disability are welcome in Ego in each one of parents, by three different ways: such as refusal (through defense mechanisms: Verneinung and Verleugnung ); such as a thing (that it isn t possible to say in words Unheimlich ); and such an appropriated establishment of reality, in other words, like holding mentally disability. It notices a dynamic with feedback, constant expression that alternate movement around the parent s rejection/acceptance about their child. It hopes this research gives theoretical support and pratical informations to professionals that do treatments to mentally disabled person and his family / Esta pesquisa teve por objetivo estudar as representações psíquicas no pai e/ou na mãe do filho portador de necessidades especiais - deficiência mental, e os conseqüentes sentimentos de rejeição/aceitação experimentados por esses pais, nesses casos. Foram analisados, especificamente, os afetos e os comportamentos conscientes e inconscientes dos pais, relacionados a essas representações, dentre os quais, assinalaram-se: o desejo de morte, o sentimento de culpa, o sentimento de inferioridade, as demandas de reparação e a negação (recusa da realidade), que foram colhidas nas entrevistas realizadas com os pais. A Teoria Psicanalítica proporcionou a fundamentação teórica para este estudo, sendo o discurso dos pais analisado com base na interpretação psicanalítica. Após a análise das diversas representações psíquicas relacionadas aos afetos já mencionados, foi possível compor uma visão ampla do conflito psíquico dos pais e constatar que ocorre um movimento de báscula, alternando aceitação/rejeição do filho portador de deficiência mental. Essas representações do filho deficiente são acolhidas no Ego de cada um dos pais, de três formas diferentes, a saber: como negado (através dos mecanismos de defesa: Verneinung e Verleugnung); como uma coisa inominável (Unheimlich); e como uma constatação adequada da realidade, ou seja, como portando deficiência mental. Verificou-se uma dinâmica com retroalimentação, expressão constante desse movimento de báscula em torno da rejeição/aceitação dos pais em relação ao seu filho. É esperado que esta pesquisa venha proporcionar suporte teórico e informações práticas aos profissionais que realizam atendimentos destinados à pessoa deficiente mental e à sua família

As alterações cromossômicas estruturais associadas a fenótipos clínicos oferecem a oportunidade de identificação de genes cujas mutações possam estar determinando essas patologias, tendo em vista a possibilidade de que esses genes podem ter sido alterados pelas quebras ou ter o número de cópias modificado. Um número cada vez maior de evidências aponta para a participação de certas seqüências do genoma na formação de rearranjos cromossômicos recorrentes e não recorrentes. Neste trabalho, estudamos duas deleções cromossômicas detectadas em indivíduos com retardo mental associado a sinais clínicos. O objetivo foi determinar que mecanismos originaram esses rearranjos e como a perda ou quebra dos segmentos cromossômicos está relacionada com o fenótipo dos portadores. A caracterização das seqüências nos pontos de quebra e junção desses rearranjos é fundamental para a compreensão dos mecanismos de formação das alterações cromossômicas. A delimitação precisa dos segmentos deletados é necessária para a correlação com o quadro clínico. Para isso, este trabalho aliou o estudo cromossômico por hibridação in situ fluorescente (FISH) à análise do DNA. / Structural chromosomal alterations related to clinical phenotypes bring the opportunity to identify gene mutations determining the pathologies, because the causative genes may have been disrupted by the breaks or may have an altered number of copies. The delimitation of the segments involved in the chromosomal rearrangements is necessary for these genotype-phenotype correlations. The characterization of breakpoint and junction sequences in these chromosome alterations enables the identification of mechanisms originating them, and evidence has been produced pointing to the participation of particular genomic sequences in their formation. In this work, we studied two chromosomal deletions in patients with syndromic mental retardation, combining chromosomal analysis by fluorescent in situ hybridization (FISH) to DNA analysis. Our aim was to determine the mechanisms that originated these aberrations and how they were involved with the clinical phenotypes.

Title: Negative emotions in swimming lessons for people with mental disability Objectives: The aim of this diploma thesis is to determine the occurrence of negative emotions associated with swimming lessons in people with mental disabilities through selected methods. Other goals are to find out the nature of the occurrence and the possibility of influencing these emotions. The result of guided interviews and the subsequent synthesis of knowledge should be the development of principles that are causal for the prevention and possible positive influence of negative emotions associated with swimming instruction in people with mental disabilities. Research questions 1. Do people with mental disabilities experience negative emotions in connection with swimming lessons? 2. On what basis do these emotions arise? 3. How can these emotions be prevented? 4. How can these emotions be positively influenced? Hypotheses I. In the swimming lessons of people with mental disabilities, we encounter negative emotions. II. It is possible to find out on the basis of what these emotions arise. III. Negative emotions can be positively influenced. IV. If these emotions are positively influenced, the individual's motor learning will be accelerated. Methods: Semi-structured interview, which will be evaluated on the basis of...