Les dernières années témoignent d'une remarquable accélération dans la compréhension des facteurs génétiques impliqués dans la déficience intellectuelle (DI) et de nombreux gènes responsables ont été identifiés. Néanmoins, les mécanismes cellulaires et moléculaires sous-jacents à la DI sont encore mal connus. Une hypothèse attractive est que les mutations à l’origine de DI affectent la neurogenèse hippocampique adulte (NGA), une forme de plasticité qui joue un rôle crucial dans la mémoire. L'objectif de ce projet est d’entreprendre une analyse comparative de la NGA chez trois modèles murins de pathologies d’origine génétique, menant à une DI sévère, impliquant des gènes localisés sur le chromosome X et participant à différentes voies de signalisation susceptibles de moduler la NGA : le syndrome de Coffin-Lowry (gène rsk2), la dystrophie musculaire de Duchenne (gène dmd) et une DI liée au gène pak3. Mes recherches actuelles montrent que ces trois modèles présentent des déficits cognitifs dépendants de l’hippocampe, dont des altérations de la fonction de séparation de patterns. Nous avons également mis en évidence des altérations de la NG adulte, avec, entre autres, des altérations du recrutement des jeunes neurones par l’apprentissage qui pourraient contribuer aux déficits cognitifs observés en particulier dans la fonction de séparation de patterns. Toutefois, selon les gènes en cause, les déficits ne sont pas observés dans les mêmes étapes de la NGA ni dans les mêmes situations comportementales. L’ensemble de ces résultats laisse donc suggérer que chacun des gènes étudiés pourrait jouer un rôle différent dans la NGA, mais qu'in fine des altérations de cette forme de plasticité contribuent, au moins en partie, aux déficits cognitifs associés à la DI dans les trois modèles. Ensemble, ces résultats apportent des informations supplémentaires qui seront directement pertinentes pour d’autres pathologies neuro-développementales conduisant à des déficits cognitifs liés à des altérations de la NG, et pourraient ouvrir de nouvelles pistes thérapeutiques. / Recent years have shown a remarkable acceleration in the understanding of genetic factors involved in intellectual disability (ID) and many genes responsible have been identified. However, the cellular and molecular underlying mechanisms are still poorly understood. An attractive hypothesis is that mutations causing ID may affect adult hippocampal neurogenesis (ANG), a form of plasticity that plays a crucial role in learning and memory. The objective of this project was to undertake a comparative analysis of adult hippocampal neurogenesis in three mouse models of genetic diseases involving genes located on the X chromosome and participating in different signalling pathways that may modulate ANG: the Coffin-Lowry syndrome (rsk2 gene), Duchenne muscular dystrophy (dmd gene) and ID due to mutation of the pak3 gene. My current research shows that these three models present hippocampal dependent cognitive deficits. Among these deficits, major deficits in spatial pattern separation function have been highlighted. We also showed specific alterations of basal ANG, together with alterations in the recruitment of young newborn neurons by learning that could contribute to the observed cognitive deficits, in particular in pattern separation function. However, depending on the genes involved, the deficits are not observed in the same steps of adult NG and in the same behavioural situations. In all, the results suggest that each of the genes plays a different role in ANG, but finally that alterations of this form of plasticity may contribute to the cognitive deficits associated with ID in the three models. Together, these results provide additional information that will be directly relevant to other neurodevelopmental disorders leading to cognitive deficits related to NG alterations, and could open new therapeutic tracks.

Orientador: Eliana Marques Zanata / Resumo: O presente trabalho teve por objetivo desenvolver e avaliar a usabilidade um aplicativo no formato de jogo, como uma ferramenta de apoio para a aprendizagem, tendo como público-alvo adolescentes com deficiência intelectual, cursando do sexto ano do ensino fundamental a terceira série do ensino médio, que recebem atendimento educacional especializado. Foram conduzidos dois estudos, o primeiro sendo o desenvolvimento do aplicativo – Mix Games e o segundo a aplicação do produto educacional desenvolvido e a avaliação da execução e usabilidade do mesmo. O app Mix Game foi desenvolvido para dispositivos móveis que utilizam o sistema Android, visto que 65% dos participantes da pesquisa tem celular ou tablet e 30% utiliza de algum familiar ou amigo. Para a avaliação da usabilidade do produto foram utilizados como instrumento de avaliação dois diferentes questionários do System Usability Scale (SUS), um modelo para professores e outro modelo adaptado para alunos com perguntas sobre o jogo e a escala Likert adaptada com a utilização de emotions para sua classificação. Pudemos verificar que tanto alunos quanto os professores consideraram o aplicativo aprovado quanto a execução e usabilidade do produto. / Abstract: This work aimed to develop an application in the game format, as a support tool for the learning of students with intellectual disabilities, targeting adolescent students with intellectual disabilities, from the sixth grade of elementary school to the third grade of education medium, who receive specialized educational assistance. We conducted two studies, the first being the development of the application - Mix Games and the second the application of the developed educational product and the evaluation of its execution and usability. The Mix Game app was developed for mobile devices that use the Android system, since 65% of the survey participants have a cell phone or tablet and 30% use a family member or friend. To evaluate the usability of the product, two different questionnaires of the System Usability Scale (SUS) were used as an assessment tool, a model for teachers and another model for students adapted with simple and clear questions about the game and the Likert scale adapted with the use of emotions for your rating. We were able to verify that both students and teachers considered the application approved as the execution and usability of the product. / Mestre

The foremost aim of this study is inherent in my primary research question which asks how the families of adult children with intellectual disabilities understand and experience the transition that takes place when their children age out of high school. In order to achieve this goal, I turned to the families themselves and asked participants to recount their lived experiences during this important transition. Throughout my data collection and subsequent analysis, I relied on methods common to interpretative phenomenology to guide my process and ensure its viability. To this end, I have conducted a phenomenological analysis of participant narratives and provide a comprehensive portrayal of how parents experience and understand the transition that takes place when their adult children with intellectual disabilities age out of school. I have strived to embed this study within the framework of the existing literature and policy pertaining to this transition. I have enhanced this research with an original content analysis of news articles pertaining to the post-school lives of adults with intellectual disabilities. Finally, I undertook interviews with community and government representatives. When taken together, these elements illustrate how difficult it is for the parents of young adults with intellectual disabilities to replace the services and supports that they lose when their adult children age out of high school in Ontario.

Given its vast population, India has one of the highest absolute numbers of people with intellectual disability (PwIDs) in the world. Studies have placed the prevalence as high as 3.1% of children aged between 2 to 5 years and 5.2% of children aged between 6 to 9 years. India recently passed the Rights of Persons with Disabilities Act, 2016 (RPwD Act), to align itself with the United Nations Convention on the Rights of Persons with Disabilities. This thesis applied the complementary methods of the review of academic and grey literature, document analysis of the RPwD Act, and in-depth informant interviews to become the first full study on the extent to which the RPwD Act meets the needs of PwIDs. Drawing on the biopsychosocial model of disability and intersectional theory, the findings show that the RPwD Act only partially meets the needs of PwIDs. The RPwD Act does incorporate progressive elements such as affirmative action provisions in the labour market, measures to prevent unethical research on PwIDs, and steps toward inclusive education. However, the Act stipulates a disability certification process that remains mired in the medical model of disability and is mostly inaccessible in rural areas. It also continues the system of legal guardianship dating to the colonial era which deprives many PwIDs of legal capacity and leaves some of them confined to long-term institutions with highly inadequate levels of care. Other problems in the Act include inadequate provisions to provide privacy, reproductive rights and education, and protection from discrimination.

Behavioral contracts were used to reduce the socially inappropriate and stigmatizing behaviors of adult men diagnosed with an intellectual disability. All three participants were residing in an intensive residential habilitation facility and receiving 24 hour supports due to the intensity of their problem behaviors. A multiple baseline across subjects with a series of reversals within the intervention phase was used to compare and evaluate the effectiveness of two types of behavioral contracts: one based on the function of the behavior and the other based on highly preferred items. Brief functional analyses were conducted to determine the function of the participants' problem behavior and multiple stimulus without replacement preference assessments were conducted to establish a hierarchy of highly preferred items. Based on the results of the brief functional analyses, all three participants' problem behaviors were likely to be maintained by attention. Results showed that the behavioral contracts resulted in a substantial decrease in maladaptive behaviors for all of the participants and, conversely, an increase in the use of functionally equivalent replacement behaviors; one of the participants showed differentiation between the treatment conditions, indicating that a functional approach might be more beneficial for some individuals.

I studien undersöks utanförskap kopplat till människor med intellektuell funktionsnedsättning och vilka faktorer som kan motverka och påverka det. Utanförskapet undersöks utifrån ett föräldraperspektiv. Studien är kvalitativ och fem semistrukturerade intervjuer genomfördes med sju föräldrar till barn med intellektuell funktionsnedsättning.  Materialet från intervjuerna har sedan tematiserats och jämförts med tidigare forskning samt undersökts utifrån teorierna stigma och social exkludering. Av resultatet från studien framkommer tre huvudteman, dessa är 1) samhällets strukturer, 2) andra personer och 3) jag. Resultatet styrker att ett utanförskap finns och att det påverkas av personer runt omkring de med intellektuell funktionsnedsättning och dem själva, men även av samhällets strukturer. Trots att det finns lagar och regler för att stärka jämställdhet och delaktighet för de med intellektuell funktionsnedsättning lever de i ett fortsatt utanförskap. Personer runtomkring de med intellektuell funktionsnedsättning kan påverka det utanförskap gruppen lever i positivt om de innehar faktorer/egenskaper i form av kunskap, engagemang och lyhördhet, vice versa om de ej innehar dessa faktorer/egenskaper. Avseende personerna själva med intellektuell funktionsnedsättning kan faktorer som exempelvis att det syns eller inte syns fysiskt att de lever med en intellektuell funktionsnedsättning, deras ekonomi samt om de kan uttrycka sig verbalt påverka det utanförskap de lever i. / This study examines alienation linked to people with intellectual disabilities, what factors that can affect it and how it can be countered. This is a qualitative study and five semistructured interviews were conducted with seven parents to children with intellectual disabilities. The material from the interviews have been thematised and compared with previous research and examined with the theories of stigma and social exclusion. From the results emerged three themes 1) the structures of society, 2) others and 3) myself. The results confirms that there is an alienation and that it is influenced by the structures of society, people around those with intellectual disabilities and themselves. Although there are laws and regulations that aim to strengthen and facilitate equality and participation for people with intellectual disabilities, social exclusion is still prevalent. People around those with intellectual disabilities can influence the exclusion positive if they possess factors/qualities such as knowledge, commitment and if they are perceptive. Opposite if they do not posses these factors/qualities. Regarding the people with intellectual disabilities, factors as if it is physically shown or not shown that they have a disability, their own financial status and their possibility to communicate verbally can influence the alienation.

There has been a growing awareness of human rights, specifically children rights, over the past 20 years. Children with intellectual disabilities are often described as a vulnerable group, with limited opportunities to fully participate in society and act as meaningful contributors. Primary caregivers are responsible to act in their child’s best interest and hence their perception of children’s rights is important. The role that they play in their child with disabilities’ life and how they promote their child’s rights, can never be ignored. The main aim of this study was to describe the extent to which Afrikaans-speaking primary caregivers perceive that the basic needs of their children between 8;0 and 14;11 (years;months) with intellectual disabilities are being met, in an attempt to describe their rights as set out by the United Nations Convention on the Rights of the Child (UNCRC). The UNCRC is a widely accepted body of which South Africa is a signatory. Forty-nine participants who met the selection criteria were asked to complete a questionnaire, consisting of biographical information, the Ten Questions Questionnaire (TQQ), and questions related to needs and rights of children with disabilities as set out by the UNCRC. Participants were mostly older, married mothers who had only a Grade 10 or lower qualification. Either themselves or their spouses were in full-time employment, and they were part of the low to middle socio-economic group. Results revealed that the majority of primary caregivers believed that their children with intellectual disabilities understood them when they told their children to do something and could speak and say recognizable words, whilst less than half of the primary caregivers reported that their children’s speech was different from normal. More than half of the primary caregivers indicated that their children learn to do things in the same way as typically developing peers. With regard to different assistive devices, the majority of primary caregivers felt that their children’s needs were met in respect to different assistive devices. This study revealed that primary caregivers most frequently mentioned intangible rights such as self-esteem rights (which included attitudes, acceptance, respect and equality. The study contributed to an improved understanding of Afrikaans-speaking primary caregivers’ perception of their children with intellectual disabilities’ needs as a starting point for claiming their human rights. / Dissertation (MA)--University of Pretoria, 2012. / Centre for Augmentative and Alternative Communication (CAAC) / unrestricted

The Support and Service Act (LSS) is a rights law that is intended to guarantee good living conditions for people with extensive and permanent disabilities. The law is intended to make it possible to receive support to be able to "live like others". The National Board of Health and Welfare describes participation as a "fundamental part of the law's values”. Participation is also one of the general principles in the UN Convention on the Rights of Persons with Disabilities. The purpose of this qualitative essay is to increase knowledge of support staff's perceptions of users' participation, and the purpose and questions have been answered through semi-structured interviews with five support staff at a group home. The theory is based om Shiers model for participation. The results showed how important support staff's attitude is in creating participation, but also how crucial augmentative and alternative communication (AAC) is, how support staff need to perceive and interpret the residents' behavior and other expressions and that the residents have different opportunities for participation depending on whether the decisions to be made are of a concrete or more abstract nature. / Lagen om stöd och service (LSS) är en rättighetslag som ska garantera personer medomfattande och varaktiga funktionsnedsättningar goda levnadsvillkor. Lagen ska göradet möjligt att få stöd för att kunna ”leva som andra”. Socialstyrelsen beskriverdelaktighet som en ”bärande del av lagens värdegrund”. Delaktighet hör också till deallmänna principerna i FN:s konvention om rättigheter för personer medfunktionsnedsättning. Syftet med denna kvalitativa uppsats är att öka kunskapen omstödpersonals uppfattningar om brukarnas delaktighet, och syfte och frågeställningar harbesvarats genom semistrukturerade intervjuer med fem stödpersonal vid engruppbostad. Teorin som används är Shiers modell för delaktighet. Resultatet visade påhur viktig stödpersonals attityd är i skapandet av delaktighet, men också hur avgörandealternativ och kompletterande kommunikation (AKK) är, hur stödpersonal behöveruppfatta och tolka de boendes beteende och andra uttryck samt att de boende har olikamöjligheter till delaktighet beroende på huruvida de beslut som ska fattas är av konkreteller mer abstrakt natur.

Bakgrund: Intellektuell funktionsnedsättning är en neuropsykiatrisk funktionsnedsättning med nedsatta intellektuella och adaptiva funktioner med en långsammare utvecklingstakt. Diagnosen kan innebära kommunikativa svårigheter. Sjuksköterskor har ett omvårdnadsansvar som innebär att patienter bör tillgodoses god och säker omvårdnad utifrån personcentrerad vård och med respekt för patientens integritet. Det är av betydelse för sjuksköterskor att ha kunskap om vad intellektuell funktionsnedsättning innebär samt kunna tillämpa kommunikationsstrategier för att tillgodose patientgruppen en god och säker omvårdnad. Syfte: Att undersöka sjuksköterskors upplevelser av att bemöta patienter med intellektuell funktionsnedsättning.Metod: En litteraturstudie med kvalitativ ansats gjordes baserat på 12 publicerade vetenskapliga studier med kvalitativ design. Det litterära underlaget är uppsökt med databaserna Pubmed och Cinahl med hjälp av sökord enligt PEO-modellen. Resultat: Litteraturstudiens resultat presenteras under tre huvudteman som formades av dataanalysen utifrån sjuksköterskors upplevelser: Kommunikation är nyckeln i bemötandet, en ständig upplevelse av tidsbrist samt strävan efter säker omvårdnad baserat på personcentrerad vård, bygga en relation och kunskap. Konklusion: Sjuksköterskor upplevde att de hade otillräckliga förutsättningar i att bemöta patienter med intellektuell funktionsnedsättning då det förekom osäkerheter kring diagnosen och kommunikationsstrategier samt hur omvårdnaden borde ges. Det rådde även tidsbrist och kunskapsbrist för att ge adekvat omvårdnad. Sjuksköterskor hade behov av mer utbildning samt mer tid för varje enskild patient för att kunna erbjuda bättre stöd till patienter med intellektuell funktionsnedsättning. / Background: Intellectual disability is a neuropsychiatric disability with impaired intellectual and adaptive ability with a slower pace of development. The diagnosis can involve communication difficulties. Nurses have a nursing responsibility to provide patients with good and safe nursing care, based on person-centered care and with respect for the integrity of the patient. It is important for nurses to have knowledge of the diagnosis and to be able to apply communication strategies for the patient group to ensure good and safe nursing. Aim: To explore nurses' experiences of meeting with patients with intellectual disability. Method: A literature review with a qualitative approach based on 12 published scientific studies with a qualitative design. The literary basis was found in the databases Pubmed and Cinahl using keywords according to the PEO model. Result: The results of the literature review formed by data analysis are presented in three main themes based on nurses’ experience: communication is key in nursing, a constant experience of lack of time and the pursuit of safe nursing based on person-centered care, building a relationship and knowledge. Conclusion: Nurses felt that they had inadequate conditions meeting the patients with intellectual disability as there were uncertainties about the diagnosis and communication strategies and how the care should be provided. There was also a lack of time and a lack of knowledge to provide adequate care. Nurses needed more education and more time with each individual patient to be able to offer better support to patients with intellectual disability.

Acts of violence towards staff committed by people with intellectual disabilities in residential care settings are common. In the Swedish legal system, the requirement for criminal intent is the same for everyone over 15 years. This creates a gap between the law and the perceived ability to take criminal responsibility in this group since the consequences of the intellectual disability can be functioning on a lower level than your chronological age. This study aims to explore the factors in reasoning about controllability, responsibility and police reporting in violent situations, with a focus on staff members working in residential care settings for people with intellectual disabilities. The method for this was 7 semi-structured interviews with staff members working in care settings where violence and threats were occurring. The thematic analysis of the interviews revealed that experience of violence was common and that communication problems are perceived as a common cause. Responsibility in violent situations was perceived as something that needs to be shared between the person displaying it and the staff involved. The reasoning around police reporting of violence shows that staff takes both the person’s ability to take responsibility and level of understanding into account and in most cases this reasoning led to the decision not to file a police report. Another factor considered in staff reasoning is the legal process and the consequences of entering it for a person with intellectual disability. This implies that staff is trying to take responsibility in practice for the gap between the law and their perception of responsibility in the person they support. The study concludes that there is a need for addressing this on a governmental level as well as on a practical level in care settings, to improve the work environment and strengthen the legal certainty for people with intellectual disabilities.