Historically, people labelled/with intellectual disability in Canada have received institutionalized forms of care in which they were mistreated, abused, and controlled (Seth et al., 2015; Spagnuolo & Earle, 2017). Today, many people labelled/with intellectual disabilities live within the community and instead receive support from disability support workers in various settings, including within smaller-scale institutions such as group homes, supported independent living arrangements. In some instances, such settings continue to provide institutionalized forms of care (Spagnuolo & Earle, 2017). They may also be in receipt of disability support through involvement with various other community services, including education, employment and recreation. While this shift away from large-scale institutionalization has generally granted a greater level of autonomy for those so labelled than there was previously, the power differential between disability support staff and people labelled/with intellectual disability is such that many problematic support dynamics persist (Sagnuolo & Earle, 2017; Robinson et al., 2022; Antaki et al., 2007). This qualitive co-production project aimed to learn more about what people labelled/with intellectual disability wanted disability support staff to know about the provision of support and did so using a series of focus groups and individual interviews with a participatory component: the co-creation of a series infographics for training of support staff. Thematic analysis revealed two major themes in my data. The first, the ways that support was too often unhelpful or harmful, I broke down into three subthemes: variable treatment, assumptions of (in)capability, and directing or doing for participants leading to neglect of opportunities for skill development. My second theme described what the participants wanted to see from support instead, which also had three sub-themes: respect for boundaries, kind and compassionate treatment, and respect for individuality. My findings and the co-created infographics emphasized the importance of respecting the knowledge that people labelled/with intellectual disabilities have about their own needs, challenging social workers and other professionals to reflect upon their self-perceptions as experts. / Thesis / Master of Social Work (MSW)

The purpose of this study is to examine how some teachers reason regarding the IDP in upper secondary school for pupils with intellectual disability. The chosen theory of the study is curriculum theory and the chosen method of the study is qualitative content analysis.   Ten teachers from five upper secondary schools for pupils with intellectual disability in Central Sweden, which both used and did not use IDP as tools in teaching for pupils with intellectual disability have been interviewed. To analyze the interviews, both the inductive approach and the deductive approach have been used.   The results of the study shows that the IDP has many functions in teaching pupils with intellectual disability at upper secondary school. There were mostly advantages that emerged in the teachers' reasoning regarding the use of the IDP in the education of pupils with intellectual disability, although there were also some disadvantages. In those categories where it was possible to study the existence of curriculum ideologies, it was primarily the learner centered ideology as well as social efficiency ideology that were most prominent.   Current research on IDP has been discussed as well as curriculum and syllabus and how they relate to IDP and pupils with intellectual disability.

Fundação Carlos Chagas Filho de Amparo a Pesquisa do Estado do Rio de Janeiro / A Deficiência Intelectual (DI) é uma condição complexa, que acomete 2-3% da população mundial, constituindo um importante problema de saúde pública. No entanto, uma parcela significativa dos casos de DI permanece sem um diagnóstico definitivo, o que demonstra que muitos fatores etiológicos associados a esta condição ainda precisam ser elucidados. Há um consenso de que o número de homens com DI supera em 30% o número de mulheres, um achado atribuído à presença de mutações em genes localizados no cromossomo X. Dentre os genes presentes neste cromossomo que são expressos no cérebro, o Jumonji AT-rich interactive domain 1C (JARID1C) foi identificado como um potencial candidato a estar relacionado à DI ligada ao X (DILX). O gene JARID1C codifica uma desmetilase da lisina 4 da histona H3 (H3K4), imprescindível para a regulação epigenética. Tão importante quanto o estudo do gene JARID1C em pacientes com DI é a busca por variações no número de cópias gênicas (VNCs) em regiões cromossômicas subteloméricas. Genes relacionados ao desenvolvimento cerebral são enriquecidos em VNCs e as regiões subteloméricas são mais susceptíveis à formação destes rearranjos. Diante do exposto, neste estudo, investigamos mutações no gene JARID1C (exons 3, 4, 5, 8, 10, 14 e 23) em 148 homens portadores de DI pertencentes a famílias com padrão de segregação sugestivo de DILX. Paralelamente, analisamos VNCs subteloméricas em 174 homens com DI familiar de etiologia idiopática, independente do padrão de segregação. Para todos os indivíduos selecionados, amostras de DNA genômico foram extraídas a partir de sangue periférico e alterações genéticas frequentemente relacionadas à DI foram previamente excluídas (expansões trinucleotídicas nos loci FRAXA e FRAXE e mutações nos genes MECP2 e ARX). A análise do gene JARID1C foi realizada pela técnica de PCR, seguida da análise dos produtos amplificados por sequenciamento. Foram identificadas quatro variantes silenciosas (c.564G>A, c.633G>C, c.1884G>A, c.1902C>A). Através da análise in silico de sequências exônicas acentuadoras de splicing (ESEs) localizadas nas posições das variantes encontradas, foi possível classificar a variante c.1884G>A como neutra e as três variantes restantes como possíveis criadoras de ESEs. Já para a investigação das VNCs subteloméricas, foi utilizada a metodologia de Multiplex Ligation-dependent Probe Amplification (MLPA), capaz de identificar microdeleções e microduplicações nas 46 regiões subteloméricas. Para este fim, inicialmente, os indivíduos foram investigados pelo kit de MLPA P036, enquanto que para aqueles que exibiram alterações também foi utilizado o kit P070. A validação das VNCs encontradas foi realizada por PCR quantitativo em Tempo Real. A análise por MLPA revelou um indivíduo apresentando duas deleções (9p e 13q), um indivíduo apresentando duas amplificações (1p e 2p), dois indivíduos apresentando uma deleção e uma amplificação (18p e 18q; 4p e 8p), quatro indivíduos portadores de uma deleção cada (10p, 20p, 3q e 22q) e dois indivíduos com uma amplificação cada (7q e 20p). Algumas das alterações subteloméricas encontradas (2,87%) representam VNCs de relevância clínica para o estudo da DI, reforçando a importância do rastreamento de rotina de VNCs subteloméricas na DI familiar. Consideramos que a elucidação de novos genes ou mecanismos moleculares diretamente relacionados à DI é um caminho promissor e urgente para o estabelecimento de novas estratégias terapêuticas possíveis. / Intellectual Disability (ID) is a complex condition, which affects 2-3% of general population, constituting a major public health problem. Nevertheless, a significant number of ID cases remain to have a definitive diagnosis, showing that many etiologic factors associated with this condition need to be elucidated. There is a consensus that the number of ID males exceeds by 30% the number of females, a finding that is attributed to the presence of mutations in genes located on chromosome X. Among the X-linked brain-expressed genes, the Jumonji AT-rich interactive domain 1C (JARID1C) was identified as a potential candidate to be related to X-Linked ID (XLID). The JARID1C gene encodes a histone demethylase specific for histone 3 lysine 4 (H3K4), which is indispensable for the epigenetic regulation. As important as the study of JARID1C gene in ID patients is the search for subtelomeric copy number variations (CNVs). Genes related to brain development are enriched in CNVs and subtelomeric regions are particularly susceptible to these rearrangements. In view of this evidence, in this study we investigated JARID1C mutations (exons 3, 4, 5, 8, 10, 14 and 23) among 148 males with ID from families with a segregation pattern suggestive of XLID. In parallel, we analyzed subtelomeric CNVs among 174 males with idiopathic familial ID, regardless of the segregation pattern. For all selected individuals, genomic DNA was extracted from peripheral blood and other frequent genetic causes related to ID were previously excluded (trinucleotide expansions at FRAXA and FRAXE loci and mutations in MECP2 and ARX genes). The JARID1C gene analysis was performed by PCR followed by sequencing analysis of the amplified products. We identified four silent mutations (c.564G>A, c.633G>C, c.1884G>A and c.1902C>A). In silico analysis of exonic splicing enhancers (ESEs) located in the variants positions made possible to classify the variant c.1884G>A as neutral and the remaining variants as potential creators of new ESEs. For the investigation of subtelomeric CNVs, Multiplex Ligation-dependent Probe Amplification (MLPA) methodology was applied to identify microdeletions and microduplications in the 46 subtelomeric regions. For this purpose, individuals were initially investigated by P036 MLPA kit, whereas for those who exhibited abnormalities, the P070 kit was also used. The CNVs validation was performed by quantitative Real Time PCR. The MLPA analysis revealed an individual with two deletions (9p and 13q), an individual with two amplifications (1p and 2p), two individuals with a deletion and amplification (18q and 18p; 4p and 8p), four individuals with a deletion (10p, 20p, 3q and 22q) and two individuals with an amplification (7q and 20p). Some of the changes found (2,87%) represent subtelomeric CNVs of clinical relevance for the study of ID, reinforcing the importance of routine screening of subtelomeric CVNs in cases of familial ID. We believe that the elucidation of novel genes or molecular mechanisms directly related to ID is a promising and urgent way for establishing new possible therapeutic strategies.

Fundação Carlos Chagas Filho de Amparo a Pesquisa do Estado do Rio de Janeiro / A Deficiência Intelectual (DI) é uma condição complexa, que acomete 2-3% da população mundial, constituindo um importante problema de saúde pública. No entanto, uma parcela significativa dos casos de DI permanece sem um diagnóstico definitivo, o que demonstra que muitos fatores etiológicos associados a esta condição ainda precisam ser elucidados. Há um consenso de que o número de homens com DI supera em 30% o número de mulheres, um achado atribuído à presença de mutações em genes localizados no cromossomo X. Dentre os genes presentes neste cromossomo que são expressos no cérebro, o Jumonji AT-rich interactive domain 1C (JARID1C) foi identificado como um potencial candidato a estar relacionado à DI ligada ao X (DILX). O gene JARID1C codifica uma desmetilase da lisina 4 da histona H3 (H3K4), imprescindível para a regulação epigenética. Tão importante quanto o estudo do gene JARID1C em pacientes com DI é a busca por variações no número de cópias gênicas (VNCs) em regiões cromossômicas subteloméricas. Genes relacionados ao desenvolvimento cerebral são enriquecidos em VNCs e as regiões subteloméricas são mais susceptíveis à formação destes rearranjos. Diante do exposto, neste estudo, investigamos mutações no gene JARID1C (exons 3, 4, 5, 8, 10, 14 e 23) em 148 homens portadores de DI pertencentes a famílias com padrão de segregação sugestivo de DILX. Paralelamente, analisamos VNCs subteloméricas em 174 homens com DI familiar de etiologia idiopática, independente do padrão de segregação. Para todos os indivíduos selecionados, amostras de DNA genômico foram extraídas a partir de sangue periférico e alterações genéticas frequentemente relacionadas à DI foram previamente excluídas (expansões trinucleotídicas nos loci FRAXA e FRAXE e mutações nos genes MECP2 e ARX). A análise do gene JARID1C foi realizada pela técnica de PCR, seguida da análise dos produtos amplificados por sequenciamento. Foram identificadas quatro variantes silenciosas (c.564G>A, c.633G>C, c.1884G>A, c.1902C>A). Através da análise in silico de sequências exônicas acentuadoras de splicing (ESEs) localizadas nas posições das variantes encontradas, foi possível classificar a variante c.1884G>A como neutra e as três variantes restantes como possíveis criadoras de ESEs. Já para a investigação das VNCs subteloméricas, foi utilizada a metodologia de Multiplex Ligation-dependent Probe Amplification (MLPA), capaz de identificar microdeleções e microduplicações nas 46 regiões subteloméricas. Para este fim, inicialmente, os indivíduos foram investigados pelo kit de MLPA P036, enquanto que para aqueles que exibiram alterações também foi utilizado o kit P070. A validação das VNCs encontradas foi realizada por PCR quantitativo em Tempo Real. A análise por MLPA revelou um indivíduo apresentando duas deleções (9p e 13q), um indivíduo apresentando duas amplificações (1p e 2p), dois indivíduos apresentando uma deleção e uma amplificação (18p e 18q; 4p e 8p), quatro indivíduos portadores de uma deleção cada (10p, 20p, 3q e 22q) e dois indivíduos com uma amplificação cada (7q e 20p). Algumas das alterações subteloméricas encontradas (2,87%) representam VNCs de relevância clínica para o estudo da DI, reforçando a importância do rastreamento de rotina de VNCs subteloméricas na DI familiar. Consideramos que a elucidação de novos genes ou mecanismos moleculares diretamente relacionados à DI é um caminho promissor e urgente para o estabelecimento de novas estratégias terapêuticas possíveis. / Intellectual Disability (ID) is a complex condition, which affects 2-3% of general population, constituting a major public health problem. Nevertheless, a significant number of ID cases remain to have a definitive diagnosis, showing that many etiologic factors associated with this condition need to be elucidated. There is a consensus that the number of ID males exceeds by 30% the number of females, a finding that is attributed to the presence of mutations in genes located on chromosome X. Among the X-linked brain-expressed genes, the Jumonji AT-rich interactive domain 1C (JARID1C) was identified as a potential candidate to be related to X-Linked ID (XLID). The JARID1C gene encodes a histone demethylase specific for histone 3 lysine 4 (H3K4), which is indispensable for the epigenetic regulation. As important as the study of JARID1C gene in ID patients is the search for subtelomeric copy number variations (CNVs). Genes related to brain development are enriched in CNVs and subtelomeric regions are particularly susceptible to these rearrangements. In view of this evidence, in this study we investigated JARID1C mutations (exons 3, 4, 5, 8, 10, 14 and 23) among 148 males with ID from families with a segregation pattern suggestive of XLID. In parallel, we analyzed subtelomeric CNVs among 174 males with idiopathic familial ID, regardless of the segregation pattern. For all selected individuals, genomic DNA was extracted from peripheral blood and other frequent genetic causes related to ID were previously excluded (trinucleotide expansions at FRAXA and FRAXE loci and mutations in MECP2 and ARX genes). The JARID1C gene analysis was performed by PCR followed by sequencing analysis of the amplified products. We identified four silent mutations (c.564G>A, c.633G>C, c.1884G>A and c.1902C>A). In silico analysis of exonic splicing enhancers (ESEs) located in the variants positions made possible to classify the variant c.1884G>A as neutral and the remaining variants as potential creators of new ESEs. For the investigation of subtelomeric CNVs, Multiplex Ligation-dependent Probe Amplification (MLPA) methodology was applied to identify microdeletions and microduplications in the 46 subtelomeric regions. For this purpose, individuals were initially investigated by P036 MLPA kit, whereas for those who exhibited abnormalities, the P070 kit was also used. The CNVs validation was performed by quantitative Real Time PCR. The MLPA analysis revealed an individual with two deletions (9p and 13q), an individual with two amplifications (1p and 2p), two individuals with a deletion and amplification (18q and 18p; 4p and 8p), four individuals with a deletion (10p, 20p, 3q and 22q) and two individuals with an amplification (7q and 20p). Some of the changes found (2,87%) represent subtelomeric CNVs of clinical relevance for the study of ID, reinforcing the importance of routine screening of subtelomeric CVNs in cases of familial ID. We believe that the elucidation of novel genes or molecular mechanisms directly related to ID is a promising and urgent way for establishing new possible therapeutic strategies.

This thesis is dedicated to the possibilities of using elements of drama education while working with persons with a mild intellectual disability. The theoretical part begins with characteristics of intellectual disability, with a specific focus on psychic processes and personality structure of individuals with a light degree of intellectual disability. Besides containing pedagogical-psychological groundwork, which clarifies the essence and meaning of drama activities in the educational processes of persons with impaired intellectual abilities, the text introduces principles of indirect drama-educational work and performance of drama activities. It also describes some methods and techniques of drama education, which reflect the potential and abilities of individuals with intellectual disabilities. The practical part includes a proposal for a project based on literary sources, and mainly oriented at the personality and social development of the target group.

In order to contribute to equality, we must go beyond the standard. I want to learn from people with disabilities and the spatial border they are faced with, by exploring the responsibility I have been given, through claiming a role that affects our built environments. I have experience with disabilities and handicaps, but these experiences do not automatically make me better in addressing issues concerning other people with disabilities. I am dyslexic and have been through big obstacles, particularly in the educational system, and I have my Aunt, who has an intellectual disability. I am privileged to have these experiences, and with this thesis I have explored them as an interior architect. This is where I start on my way to contribute.  This thesis is a critical study of how standards are practiced, examined through housing built for people with intellectual disabilities in Selbu, Norway. In the center of the critique is the institution. Institutionalization and standardization have a long relationship as answers to complex questions. Institutions’ uniformity ultimately belongs to no one. The matter becomes particularly problematic when the environment is supposed to operate someone’s home. Housing for people with intellectual disabilities is often life long and not determined on the intention of the builders. What is obvious to me after reading the standards and exploring the buildings, is that the minimum requirements are always in place, often built as if the minimum was the goal. But a standard also expresses its vision. The vision talks about inclusion and the dangers with mini institutions, but the vision is expressed through soft language and the minimum requirements are expressed through concrete language of measurements. From the process of being a standard to becoming a building the soft language evaporates from the building plans. The standard will never prohibit you to go beyond it! / <p>Part of the project is in collaboration with Nils Ställborn, graduating Bachelor student with his thesis Material Diversity.</p><p>Please go to <em>poststandardization.info </em>to see our exhibition, an information platform to spread the insight of Poststandardization to enable the world to go beyond the standard.</p>

No / Transition planning using a person-centred approach has, in the main, failed to shape service provision. We offer an alternative based on an ecological understanding of human development linked to public health approaches that prioritise whole system planning. A total of 43 young people with intellectual disabilities, in Bradford, England, who were approaching transition from school or college were recruited to a qualitative study. Their ethnic breakdown was as follows: 16 white British, 24 Pakistani, 2 Bangladeshi and 1 Black African. Each young person was interviewed twice, at recruitment and a year later, to observe any changes in their social networks during transition. Interviews were undertaken with a semi-structured interview schedule and with the pictorial approach of Talking Mats. Both the networks the young people live within, and their sense of what the future might hold for them, are described and linked to Bronfenbrenner's ecological model of human development. The importance of the family and school is emphasised, as is the absence of engagement in leisure activities and work. Transition planning needs to start with mapping the systems individuals live within, areas of strength should be supported and parts of the system, which are not fit for purpose for these young people, should be prioritised for interventions.

Syftet med denna studie är att belysa några grundsärskolelärares konstruktioner av elevers delaktighet i ämnet matematik. För att kunna belysa lärares konstruktioner har jag genomfört kvalitativa gruppintervjuer med lärare, inom grundsärskolans olika stadier, som alla undervisar i ämnet. Jag har genom intervjuerna tagit del av lärarnas gemensamma beskrivningar och sedan analyserat dem ur ett socialkonstruktionistiskt perspektiv. Utifrån de intervjuade lärarnas konstruktioner handlar elevers egna önskemål om delaktighet i matematikämnet främst om tillgång till digitala verktyg i form av Ipads och här beskrivs elever som skickliga användare. Hinder för delaktighet däremot kan handla om elevers okunskap om hur man gör sig delaktig emedan möjlighet till delaktighet kan handla om att läraren är positivt inställd till ämnet. En matematikundervisning som är nivåanpassad och variationsrik och som präglas av lyhördhet och prestigelöshet kan inverka gynnsamt på elevers möjligheter att vara delaktiga. Variationer mellan stadier handlar bland annat om graden av initiativförmåga som tenderar att öka med stigande ålder men även om elevers förståelse av ämnet som blir mer tydligt ju äldre eleverna blir. Min förhoppning är att denna studie kan bidra till ökad förståelse för hur viktig lärarrollen är för grundsärskoleelevers möjligheter att bli delaktiga i matematikundervisningen. / The purpose of this study is to describe the constructions of student participation in mathematics made by some special school teachers. In order to obtain teachers' constructions of student participation in mathematics I conducted qualitative group interviews with teachers in special schools from different stages, each of which teaches the subject. Through the interviews I have been able to take part of the teachers’ common descriptions and I have analyzed these from a social constructionist perspective. Based on teachers’ constructions is students' own preferences about participation in mathematics mainly for access to digital tools as Ipads and the teachers describes students as skilled users. The picture of what can prevent participation include students' lack of knowledge about how to do their part. On the contrary if the teacher has a positive attitude towards mathematics opportunities for participation might be given. Mathematics teaching, if graded and varied and if characterized by sensitivity and modesty, have a positive impact on pupils' opportunities to be involved. Variations between stages include the degree of initiative that tends to increase with age but also students' understanding of the subject that becomes more evident the older the students are. My hope is that this study can contribute to greater understanding of how important the teachers role is for special school students’ opportunities to become involved in the teaching of mathematics.

Syftet med denna studie är att undersöka hur elever i grundsärskolan inriktning träningsskola kommunicerar med hjälp av digitala verktyg respektive pappersbilder, med frågeställningen; på vilket sätt ger pappersbilder respektive appen Widgit Go elever stöd i sin kommunikation? Detta har undersökts i en kvalitativ studie med deltagande observationer som metod. Fem deltagare deltog i studien. Under sammanlagt tio tillfällen använde deltagarna först pappersbilder sen en kommunikationsapp i en Ipad för att begära olika föremål. Resultatet visade att båda hjälpmedlen fungerade som stöd deltagarnas kommunikation och att de använder Ipaden och pappersbilderna på samma sätt för att kommunicera. Kommunikationen med pappersbilder visade fördelar genom att deltagarnas uppmärksamhet i kommunikationen riktades mot mottagaren. Ipaden visade sig ha fördelar genom att den minskade risken för missuppfattningar i kommunikationen. / The aim of this study was to investigate how pupils in a special training school communicate with digital tools and paper images. The specific research question was in what way paper images and the Ipad communication app Widgit Go could support pupils in their communication. The method used involved qualitative participant observation on two occasions with five different pupils. In all, ten observations were conducted where the participants first used paper images followed by the Ipad app to request certain objects. The results showed that both tools supported the communication of the participants and that the app and the paper images were used in a similar manner to communicate. The paper imageshowed advantages by directing the attention of the communication towards the receiver. The Ipad app showed advantages by decreasing the risk for misunderstandings in the communication.

Bakgrund: Diabetes Mellitus är mer vanligt förekommande hos individer med intellektuell funktionsnedsättning jämfört med övriga befolkningen. Intellektuell funktionsnedsättning är en kognitiv nedsättning som innebär svårigheter att ta in och bearbeta information samt tillämpa och bygga kunskap. Egenvård är ett begrepp som används för att beskriva de insatser som den enskilde individen vidtar för att lindra eller bota sjukdom och främja hälsa.  Syfte: Att beskriva vad som upplevs påverka egenvården hos individer med intellektuell funktionsnedsättning och diabetes. Metod: Litteraturöversikt, med induktiv ansats, baserad på kvalitativa artiklar via datainsamling gjord i CIINAHL och PsychINFO. Metoden snowballing har även använts för datainsamlingen. Resultatet sammanställdes genom en integrerad analys. Resultat: Svårigheter att ta till sig och använda sig av information upplevs inverka negativt på förmågan till egenvård vid diabetes hos individer med intellektuell funktionsnedsättning och diabetes. Kunskapen hos vårdteamet och stödet från omgivningen upplevs även påverka egenvården. Slutsats: Möjligheten bör finnas inom ramen för sjuksköterskeprogrammet att synliggöra omvårdnad vid intellektuell funktionsnedsättning. Inom vården bör man vidta åtgärder utifrån behovet av mer undervisning om diabetes som är särskilt anpassad för individer som är intellektuellt funktionsnedsatta. Det skulle även vara värdefullt att framtida forskning belyser dessa individers möjlighet till egenvård. / Background: Diabetes mellitus is more common amongst individuals with an intellectual disability compared to the rest of the population. Intellectual disability is a cognitive impairment which results in difficulties with processing information and applying and building knowledge. Self-management is a term used to describe the activities that the individual perform in order to cure disease and promote health. Objective: To describe experiences of what affects self-management amongst individuals with an intellectual disability and diabetes. Method: Literature review, with an inductive approach, with a review of relevant qualitative articles found in CINAHL and PsychINFO. The snowballing method is also used for collecting data. The result is compiled using an integrated analysis.   Result: Difficulties with reciving and using information is experienced to impede the ability to self-manage diabetes amongst individuals with intellectual disability and diabetes. The understanding of diabetes and intellectual disability amongst health care professionals and contextual support is also experienced to affect self-management. Conclusion: Within the context of the nursing program it would be useful with more dedicated education about intellectual disability. More research about these individuals’ ability to self-manage would be useful as well. Within the health care system actions should be taken to meet the need for information that is suited for individuals with intellectual disability.