This diploma thesis is focused on leisure activities for children with moderate and severe mental retardation. The theoretical framework demonstrates the degrees of mental retardation, and in addition, integration and inclusion issues in education are discussed. This part of the diploma thesis acquaints with potential leisure centres and presents various forms of leisure activities for children with moderate and severe mental retardation. The practical application part identifies specific leisure activity options and in a collaboration with leisure centres it provides a comprehensive overview of leisure activities for children with moderate and severe mental retardation in Kolin and Nymburk region. It also captures parental interest in these leisure activities.

Persons with intellectual disability were often segregated from the community during the 20th century. As the social model of disability replaces the medical model, normalisation, deinstitutionalisation and job placement occur. However, in South Africa only a minority of persons with intellectual disability work in the open labour market. A qualitative study was conducted to explore and describe employers' attitudes and experiences regarding employees with intellectual disability. The research design was exploratory, descriptive and contextual, utilising purposive and snowball sampling. Semi-structured interviews were conducted; thereafter, Tesch's eight steps were used to conduct the data analysis. The findings were described according to themes and sub-themes and subsequently verified. Factors impacting upon employers' attitudes and their positive experiences were described. The challenges employers faced and their experiences of their role in the employment of persons with intellectual disability, may be used as guidelines for employers of such persons. Recommendations for further action and research are suggested. / Social Work / M.Diac. (Social Work)

published_or_final_version / Urban Planning / Master / Master of Science in Urban Planning

Pastaraisiais metais dėmesys vaiko sveikatai bei jo ugdymui yra tikrai didelis. Rengiamos įvairios labdaros akcijos, visuomenė skatinama pažvelgti į vaikus per kitokią prizmę, keičiasi požiūris į vaiką kaip į socialinę būtybę. Tačiau šiame technologijų ir informacijos amžiuje, vaikų sveikatos problemos išlieka tiek pat aktualios bei svarbios. Remiantis PSO (1995), protinis atsilikimas – dalinis ar nepakankamas protinių galių išsivystymas. Jis apibūdinamas įgūdžių, sudarančių tam tikrą intelekto lygį (pažintinių, kalbos, motorinių ir socialinių), formavimosi sutrikimu įvairiuose raidos etapuose. Darbo tikslas: įvertinti vaikų, turinčių protinį atsilikimą, savarankiškumo įgūdžius. 2008 m. balandžio – lapkričio mėnesiais Klaipėdos 2-oje internatinėje mokykloje buvo vykdomas ergoterapinis vertinimas, naudojant specialiai šiam tyrimui sudarytu vertinimo instrumentu. Moksleivių savarankiškumo įgūdžiai buvo vertinami vieną kartą. Tyrime dalyvavo 72 internatinės mokyklos moksleiviai, turintys nežymų, vidutinį ir žymų protinio atsilikimo lygį. Tiriamieji buvo vertinami 6 savarankiškos veiklos srityse, tų įgūdžių atlikimo metu. Ergoterapinis tyrimas parodė, kad ergoterapeutas yra reikalingas šioje internatinėje mokykloje visiems vaikams. Nebuvo nei vieno moksleivio, kurio visų sričių savarankiškumas galėtų būti vertinamas aukščiausiu balu. Todėl būtų džiugu, jog protinį atsilikimą turinčių moksleivių ugdymo įstaigose atsirastų vieta ergoterapeutui, jis galėtų bendradarbiauti ir... [toliau žr. visą tekstą] / The purpose of the research is to evaluate daily living skills of children with mental retardation. The occupational therapy assessment was carried out in the 2nd boarding school in Klaipėda, during the period of 2008 April and November. To perform the research was made a special assessment tool. Students daily living skills were evaluated one time. 72 boarding school students with mild, moderate and severe mental retardation participated in the study. Children were evaluated in 6 different ranges of daily living skills, during functional performance. Occupational therapy assessment showed, that occupational therapist is necessary for all boarding school students. There was not a student, whose independence from all areas can be seen at the highest score. It would be wonderful if the occupational therapist could help student with mental retardation in all educational institutions. He could collaborate and work with other educational team members.

The aim of this study is to describe interaction between mothers/ caregivers and their profoundly mentally retarded and multiply handicapped children, and to describe the function of play in communicative interaction. In the study I describe the communicative interaction of six children aged 1:3 to 10 years. The children have been studied in their homes and preschools or schools. Each child had five or six handicaps in addition to their profound retardation. The study is based on interviews with parents, information from naturally-occurring conversations and videoobservations. Meals and play were selected for video-recording. The results indicate that the most important function of play is as a means of communication and learning. Play most often involves sensory stimulation and body play. Communicative interaction is non-verbal and described in terms of gaze/eye contact, facial expressions, gestures and body movements. A pattern of interaction has been found. This consists of four phases: an impression-receiving phase with orientation, an expressive phase with motor activity, a pause with processing and preparation of an answer and finally a break or a limited reaction. These children have, however, a communicative competence. The ability of the mothers to interpret the children’s signals is extremely context-dependent. These mothers adjust their communicative behaviour to the child and facilitate the child’s communicative interaction. The ability of the mothers/ caregivers to interpret the signals of these children is often underestimated by professionals. The living conditions of the parents have emerged as an important factor for play, communication and the development of the child.

of the thesis Glutamate is a main excitatory neurotransmitter in the brain of mammals, which activates both ionotropic and metabotropic glutamate receptors. Ionotropic receptors are responsible for fast synaptic transmission leading to membrane depolarization and Ca2+ influx into the cell. On the other hand mGlu receptors play an important role in regulation of the transmission via heterotrimeric G-proteins and activation of various signaling pathways. Postsynaptically localized group I mGlu receptors (mGluR1, 5) together with ionotropic NMDA and AMPA receptors share common large receptor signaling complexes, or signalosome facilitating glutamate signal transductions. Individual mGluR1 splice variants are differently associated with signalosome including scaffold proteins like PSD-95 which organize postsynaptic density (PSD). Heterodimerization of different mGluR1 splice variants is a focal point of my thesis together with investigation of recently discovered protein IL1RAPL1 (interleukin-1 receptor accessory protein-like 1) and its role in organization of postsynaptic signalosome. Using biochemical, immunocytochemical and functional assays we showed heterodimers of mGluR1a/1b were expressed on the plasma membrane and that heterodimers are fully functional in the recombinant system. Next we showed...

This document is submitted in partial fullfilment for the degree: Master of Architecture [Professional] at the University of the Witwatersrand, Johannesburg, South Africa, in the year 2015. / People with intellectual disabilities are considered to be marginalised in our society. They continue to face prejudices, stigmas and are discriminated against resulting in social exclusion. This thesis develops a framework and methodology for pursuing inclusive environments and viable productivity within the workplace for persons with intellectual disabilities. The lack of opportunities within the workplace for individuals with intellectual disabilities intensi es their exclusion from society. The road to achieving inclusivity within the workplace has become a challenging one to navigate, as previous strategies which were developed to enable equality are far removed from what was intended. More often than ever before, employers are challenged from both a legal and political perspective for failing to diversify the workplace. Equality advocates as well as those who attempt to diversify their companies face obstacles within the workplace, namely inadequate resources or uncertainty about their appropriate role or approach in dealing with minorities. The building will serve as a learning hub, used by both persons with intellectual disabilities and people who are commonly referred to as able bodied. It will function as a level between education (if any) and the period before entering the workplace. The learning hub will afford persons with intellectual disabilities the opportunity to explore their capabilities in environments similar to that of a workplace and gain knowledge and experience prior to entering the workplace. The program envisaged in this thesis will demonstrate that this intervention is mutually bene cial to a company and the individual with an intellectual disability. In the first instance, the employer acquires knowledge and skills to act as a catalyst in enabling the transition of a person with an intellectual disability into the workplace to augment inclusivity. Secondly, the person with an intellectual disability through the program will be clothed with knowledge and expertise enabling meaningful participation amongst able-bodied employees. The transformation within workplaces as a result of the knowledge gained through this centre should create an enabling environment that incorporates the individual’s needs or one that best satis es their needs. The support by the employer is vital in the outcome and success of integrating people with disabilities into the social framework. The building is developed around a range of interactive programs between those with intellectual disabilities and people acting as the supervisors from workplaces. The supervisors, through training will be best placed to oversee progression and be empathetic toward staff with intellectual disabilities. This will enable them to transfer their knowledge and expertise of dealing with and accommodating employees with intellectual disabilities to their respective workplaces. A mock work environment will form the basis of the experiential training ground and in conjunction with job sampling will establish where a user will be best suited within the work environment. Public facilities encourage members of the public to become active participants within the space providing exposure and understanding towards those with intellectual disabilities. The centre is expected to be both accessible and lasting and will mediate experiential training and aligning it to workplace practices. The centre will be a vital space to enhance inclusion and for producing sustainable change for this marginalised group of persons. The building is located within an educational precinct on Melle Street, Braamfontein. The site which is in close proximity to the Central Business District allows for the centre to feed into businesses and vice versa. The location also allows for easy access to people from all over Johannesburg utilising various transport methods. The site being amid universities and schools ensures integration and optimum use, for educational facilities to link into this program. It also allows for social cohesion through exposure between the users of the building and other students in the surrounding area. / EM2017

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.

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.

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.