L’intégrité des synapses neuronales est primordiale pour le développement et le maintien des capacités cognitives. Des mutations dans des gènes codant pour des protéines synaptiques ont été trouvées chez des patients atteints de déficience intellectuelle (DI), qui est une maladie neurodéveloppementale ayant des conséquences sur les fonctions intellectuelles et adaptatives. Ce travail de thèse porte sur l’étude de l’un de ces gènes, IL1RAPL1, dont les mutations sont responsables d’une forme non-syndromique de DI liée au chromosome X, et sur le rôle de la protéine IL1RAPL1 dans la formation et le fonctionnement des synapses. IL1RAPL1 est une protéine trans-membranaire qui est localisée dans les synapses excitatrices où elle interagit avec les protéines post-synaptiques PSD-95, RhoGAP2 et Mcf2l. De plus, IL1RAPL1 interagit en trans- avec une protéine phosphatase présynaptique, PTPd, via son domaine extracellulaire. Nous avons étudié les conséquences fonctionnelles de deux nouvelles mutations qui affectent le domaine extracellulaire d’IL1RAPL1 chez des patients présentant une DI. Ces mutations conduisent soit à une diminution de l’expression de la protéine, soit à une réduction de l’interaction avec PTPd affectant ainsi la capacité d’IL1RAPL1 à induire la formation de synapses excitatrices. En absence d’IL1RAPL1, le nombre ou la fonction des synapses excitatrices est diminué, ce qui mène à un déséquilibre entre les transmissions synaptiques excitatrice et inhibitrice dans des régions spécifiques du cerveau. Dans le cas particulier de l’amygdale latérale, nous avons montré que ce déséquilibre conduit à des défauts de mémoire associative chez la souris déficiente en Il1rapl1. L’ensemble des résultats qui font partie de ce travail montre que l’interaction IL1RAPL1/PTPd est essentielle pour la formation des synapses et suggère que les déficits cognitifs des patients avec une mutation dans il1rapl1 proviennent du déséquilibre de la balance excitation/ inhibition. Ces observations ouvrent des perspectives thérapeutiques visant à rétablir cette balance dans les réseaux neuronaux affectés. / Preserving the integrity of neuronal synapses is important for the development and maintenance of cognitive capacities. Mutations on a growing number of genes coding for synaptic proteins are associated with intellectual disability (ID), a neurodevelopmental disease characterized by deficits in adaptive and intellectual functions. The present work is dedicated to the study of one of those genes, IL1RAPL1, and the role of its encoding protein in synapse formation and function. IL1RAPL1 is a trans-membrane protein that is localized at excitatory synapses, where it interacts with the postsynaptic proteins PSD-95, RhoGAP2 and Mcf2l. Moreover, the extracellular domain of IL1RAPL1 interacts trans-synaptically with the presynaptic phosphatase PTPd. We studied the functional consequences of two novel mutations identified in ID patients affecting this IL1RAPL1 domain. Those mutations lead either to a decrease of the protein expression or of its interaction with PTPd, affecting in both cases the IL1RAPL1-mediated excitatory synapse formation. In the absence of IL1RAPL1, the number or function of excitatory synapses is perturbed, leading to an imbalance of excitatory and inhibitory synaptic transmissions in specific brain circuits. In particular, we showed that this imbalance in the lateral amygdala results in associative memory deficits in mice lacking Il1rapl1. Altogether, the results included in this work show that IL1RAPL1/PTPd interaction is essential for synapse formation and suggest that the cognitive deficits in ID patients with mutations on IL1RAPL1 result from the imbalance of the excitatory and inhibitory transmission. These observations open therapeutic perspectives aiming to reestablish this balance in the affected neuronal circuits.

Syftet med studien var att undersöka hur socialsekreterare förhåller sig till barnets bästa i arbetet med familjer där föräldrarna har en intellektuell funktionsnedsättning. För att kunna besvara studiens syfte har en kvalitativ metod använts. Intervjuer har genomförts med fem socialsekreterare från fem olika kommuner i Mellansverige, verksamma inom barn- och ungdomsenheten. En kvalitativ innehållsanalys genomfördes för analys av intervjumaterialet och två huvudkategorier; "Hur långt kan vi sträcka oss innan vi säger stopp?" samt Rädsla och osäkerhet med sex tillhörande subkategorier framkom. Den första kategorin visar på en osäkerhet hos socialsekreterarna kring vad som är barnets bästa i familjer där föräldrarna har en intellektuell funktionsnedsättning. Andra kategorin tyder på att det finns en rädsla inför socialtjänsten hos de föräldrar som har en intellektuell funktionsnedsättning vilket kan försvåra arbetet med familjerna. Resultatet visar likt anknytningsteorin att en förälder kan vara hämmande för sitt barns utveckling om det brister i förmågan att se och förstå barnets signaler. En intellektuell funktionsnedsättning i sig är dock enligt denna studie inte avgörande för om barnet kommer få en trygg anknytning. En ökad kunskap kring barn som växer upp i familjer där föräldrarna har en intellektuell funktionsnedsättning kan hjälpa socialtjänsten och socialsekreterare i frågor om vad som är barnets bästa och ge en vägledning i vad som kan tänkas vara barnets bästa uppväxtmiljö. / The purpose of this study was to investigate how social workers relates to the child's best in the work with families where the parents have an intellectual disability. To answer the purpose of the study a qualitative method have been used. Interviews were conducted with five social workers from five different municipalities in central Sweden, active in the child and adolescent unit. A qualitative content analysis was used for analysis of the interview material and two main categories were found; "How far can we stretch ourselves before we say stop?", Fear and uncertainty and six associated subcategories emerged. The first category shows an uncertainty among social workers about what is the child's best in families where the parents have an intellectual disability. The other category indicates that there is a fear of social services from parents who have an intellectual disability which may hamper the work with the families. The result shows, like attachment theory, that a parent can be a disincentive to their child's development if it lacks the ability to see and understand the child's signals. An intellectual disability in itself is not, according to this studie, decisive in determining whether the child will have a secure attachment. An increased knowledge about children growing up in families where the parents have an intellectual disability can help social services and the social secretary in the questions about the child's best and provide a guide to what might be the child's best growing environment.

L’intégrité des synapses neuronales est primordiale pour le développement et le maintien des capacités cognitives. Des mutations dans des gènes codant pour des protéines synaptiques ont été trouvées chez des patients atteints de déficience intellectuelle (DI), qui est une maladie neurodéveloppementale ayant des conséquences sur les fonctions intellectuelles et adaptatives. Ce travail de thèse porte sur l’étude de l’un de ces gènes, IL1RAPL1, dont les mutations sont responsables d’une forme non-syndromique de DI liée au chromosome X, et sur le rôle de la protéine IL1RAPL1 dans la formation et le fonctionnement des synapses. IL1RAPL1 est une protéine trans-membranaire qui est localisée dans les synapses excitatrices où elle interagit avec les protéines post-synaptiques PSD-95, RhoGAP2 et Mcf2l. De plus, IL1RAPL1 interagit en trans- avec une protéine phosphatase présynaptique, PTPd, via son domaine extracellulaire. Nous avons étudié les conséquences fonctionnelles de deux nouvelles mutations qui affectent le domaine extracellulaire d’IL1RAPL1 chez des patients présentant une DI. Ces mutations conduisent soit à une diminution de l’expression de la protéine, soit à une réduction de l’interaction avec PTPd affectant ainsi la capacité d’IL1RAPL1 à induire la formation de synapses excitatrices. En absence d’IL1RAPL1, le nombre ou la fonction des synapses excitatrices est diminué, ce qui mène à un déséquilibre entre les transmissions synaptiques excitatrice et inhibitrice dans des régions spécifiques du cerveau. Dans le cas particulier de l’amygdale latérale, nous avons montré que ce déséquilibre conduit à des défauts de mémoire associative chez la souris déficiente en Il1rapl1. L’ensemble des résultats qui font partie de ce travail montre que l’interaction IL1RAPL1/PTPd est essentielle pour la formation des synapses et suggère que les déficits cognitifs des patients avec une mutation dans il1rapl1 proviennent du déséquilibre de la balance excitation/ inhibition. Ces observations ouvrent des perspectives thérapeutiques visant à rétablir cette balance dans les réseaux neuronaux affectés. / Preserving the integrity of neuronal synapses is important for the development and maintenance of cognitive capacities. Mutations on a growing number of genes coding for synaptic proteins are associated with intellectual disability (ID), a neurodevelopmental disease characterized by deficits in adaptive and intellectual functions. The present work is dedicated to the study of one of those genes, IL1RAPL1, and the role of its encoding protein in synapse formation and function. IL1RAPL1 is a trans-membrane protein that is localized at excitatory synapses, where it interacts with the postsynaptic proteins PSD-95, RhoGAP2 and Mcf2l. Moreover, the extracellular domain of IL1RAPL1 interacts trans-synaptically with the presynaptic phosphatase PTPd. We studied the functional consequences of two novel mutations identified in ID patients affecting this IL1RAPL1 domain. Those mutations lead either to a decrease of the protein expression or of its interaction with PTPd, affecting in both cases the IL1RAPL1-mediated excitatory synapse formation. In the absence of IL1RAPL1, the number or function of excitatory synapses is perturbed, leading to an imbalance of excitatory and inhibitory synaptic transmissions in specific brain circuits. In particular, we showed that this imbalance in the lateral amygdala results in associative memory deficits in mice lacking Il1rapl1. Altogether, the results included in this work show that IL1RAPL1/PTPd interaction is essential for synapse formation and suggest that the cognitive deficits in ID patients with mutations on IL1RAPL1 result from the imbalance of the excitatory and inhibitory transmission. These observations open therapeutic perspectives aiming to reestablish this balance in the affected neuronal circuits.

The Swedish upper secondary education consists of different types of schools. One type of school is the upper secondary for pupils who have assessed as having an intellectual disability. The aim of this study is to increase the knowledge and understanding of pupils’ experiences of everyday life in school, and how they perceive the significance of their sense of belonging to this type of school. An additional aim of the study is to increase the knowledge about different ways of organizing the education and teaching. The collection of data started with a national questionnaire survey which was directed to headteachers at the schools. Based on the results from the survey five schools were selected. By participant observations at the schools and repeated interviews with 14 young women and 12 young men, the first person perspective has been studied and analysed through an interpretive approach. The analysis showed that knowledge about the schools different ways of organizing the teaching are of importance, to understand pupils’ diverse experiences of school life. As an example it has an impact on how the pupils evaluate different types of knowledge, but also how they view their future opportunities. Any clear connection between the schools different ways of organizing the education and teaching and pupils’ experiences of their sense of belonging to this type of school has not emerged. Instead pupils’ awareness, confidence, uncertainty, dejection and determination are to be seen as a framework of understanding, telling us about their experiences of their school affiliation. Together they demonstrate a complexity surrounding pupils’ situation, associated to both advantages and disadvantages in school, but also their thoughts about identity and how they perceive being categorized as deviant by others. The analysis also showed that expectations on the pupils, and their possibilities in the school context, are related to a special school culture and to gender differences. / <p>Therése Mineur</p><p>is also affiliated to / är också knuten till</p><p>Högskolan i Halmstad</p>

Mémoire numérisé par la Division de la gestion de documents et des archives de l'Université de Montréal.

People with intellectual disability are living longer, which creates new demands for the support and care of this target group. Participation and autonomy at all ages, regardless of functional capacity, are cited in legislation and among the key objectives of disability policy. As a group, older people with intellectual disability have previously been almost invisible in both policy documents and research. Information regarding this group is thus limited, and more systematic knowledge is needed about older people with intellectual disability, their daily lives, and especially their opportunities for autonomy. The purpose of this thesis is to learn more about the role of influence and autonomy in everyday life from the perspective of older people with intellectual disability living in group homes. This will be achieved by studying situations in which opportunities and obstacles arise for these residents to exercise their autonomy in daily life, and identifying and analysing how autonomy is expressed in the meeting between residents and staff. The study applies an ethnographic approach, using methods including field studies with observations and videotaped meetings between residents and staff. The sample consists of residents aged 65 and over and staff at three group homes for people with intellectual disability. One resident at each group home is followed in greater depth. The analysis uses the time-geographic concepts of project, activity and restrictions in order to clarify where and when different projects are carried out, as well as who has the power to determine what is to be carried out. Interaction analysis is used to analyse the videotaped meetings between residents and staff. The analysis is based on Goffman’s interaction order and interaction rituals, theories about turntaking, both verbal and non-verbal, and theories about power and counter-power. In accordance with Goffman’s framework concept, the starting point is the concrete framework that reflects spatiality, which in turn becomes a way to place the more abstract framework of the situation into a specific context. Two major projects were identified: Sleep and Rest and Meals. The analysis reveals projects that are governed by the resident’s own preferences (individual projects) and projects that are governed to a greater degree by the staff’s objectives and opportunities (institutional projects). Some guidance also derives from municipal decisions and guidelines (organizational projects). Many projects were carried out based on staff decisions and objectives, but in actual practice many projects failed to get off the ground. Some projects were at risk of failure until something happened or someone intervened and thereby rescued the project so that it could be implemented. The interactional analysis perspective shows how autonomy is constructed in the meeting. Autonomy is situation-bound, and shifts more on the basis of context than in relation to specific individuals. The study includes decision situations mainly between autonomy and its opposite, paternalism, which are viewed as extremes on a continuum. However, certain factors lead to stronger autonomy in certain situations. When a resident can define the situation, they also have greater power to determine the outcome. In situations characterized by paternalism, the staff have a preferential right of interpretation and the power to decide, both on the basis of their knowledge and because of the asymmetrical interdependence that characterizes the resident-professional relationship. Such situations are also governed by the rules and procedures of the group home to a greater degree than those situations in which the resident exercises autonomy. The thesis discusses strategies that could increase the residents’ opportunities for autonomy. Greater communication skills among staff can be viewed as a step on the path toward greater autonomy for the residents. Staff have the potential to eliminate obstacles, to strengthen inadequate skills or create new ones by providing choices and assistive devices, and to exercise an affirmative approach.

Syftet med denna studie är att undersöka och beskriva de uppfattningar några lärare i grundsärskolan årskurs 4-9 har av läsförståelseundervisning för elever med utvecklingsstörning.   Studiens teoretiska utgångspunkt och metod är fenomenografi vilken vill beskriva människors olika sätt att förstå fenomen i sin omvärld. I denna studie har sju lärare vid olika grundsärskolor intervjuats. Material till undersökningen har samlats in med hjälp av halvstrukturerade intervjuer och har sedan analyserats. Analysen är inspirerad av en fenomenografisk analysmodell i sju steg.   I studiens resultat synliggörs tre kategorier av uppfattningar av undervisning i läsförståelse för elever med utvecklingsstörning. Det rör sig om uppfattningar av vilka utmaningar det innebär för läraren, av syftet med undervisningen och av lärarens uppgift och roll. I den övergripande bild som framträder uppfattas elevers egenskaper i hög grad som en utmaning och lärarens uppgift handlar om att lära och stödja elever. Då det gäller syftet med undervisningen så finns även här inslag av att undervisning i läsförståelse är ett verktyg för att elever ska förstå hur undervisning och lärande går till samtidigt som eleven ska utveckla färdigheter. Syftet med undervisningen i läsförståelse handlar även om individens delaktighet och möjlighet att vara aktiv i skola, undervisning och samhälle. / The purpose of this study is to investigate and describe the perceptions some teachers in compulsory school grades 4-9 have about reading comprehension instruction for students with intellectual disability.   The theoretical basis and method is phenomenography which describe the different ways of perceiving the phenomenon in the world. In this study seven teachers at different special schools were interviewed. Materials for the study were collected using semi-structured interviews. The interviews were analyzed inspired by a phenomenographical analysis model in seven steps.   The study's results made visible three categories of perceptions of the teaching of reading comprehension for students with intellectual disability. These perceptions are the challenges it brings to the teacher, the purpose of teaching and the teacher's task and role. In the overall picture that emerges is students' characteristics largely a challenge and task of the teacher is about to teach and support students. Regarding the purpose of education, there are also elements of that the teaching of reading comprehension is a tool for students to understand how teaching and learning works but also for the student to develop skills. The purpose of the teaching of reading comprehension is also about the individual's involvement and the opportunity to be active in school, education and society.

Thesis advisor: Callista Roy / Assessing pain in nonverbal children with intellectual disability (ID) is challenging. These children are at risk for having pain from complex medical conditions and treatments for these conditions (Breau, Camfield, McGrath, Finley, 2004). Compounding this, their pain cues are often misunderstood, given that they are nonverbal and limited by their physical abilities. Although, pain assessment tools for this population exist, there is a need for tools appropriate for a range of exhibited pain expressions. The general purpose of this study was to examine the words that parents of children with ID use to describe their child's pain responses in order to improve pain recognition and management. Specifically, the aims were to: 1) Identify common pain responses; 2) Examine the relationship between type of pain response and demographic characteristics; 3) Compare common pain responses to cues in the literature. A non-directed summative content analysis identified patterns in 335 parent described pain responses of 50 nonverbal children with ID ages 6-18 years. The relationships between type of pain response and selected demographic factors were examined. Then pain responses were compared to items of pain tools for this population. Seven distinct categories of pain expression were identified in the content analysis. The greatest percentage of pain cues were within the categories of vocalization (39.4%), social behavior (21.8%) and facial expressions (16%). Four categories: vocalization, social behavior, muscle tone and activity level included opposite responses to pain. Significant relationships between type of parent described pain expression and 1) pain severity; 2) causes of ID and; 3) the gender of the child found that type of pain expression changes with severity; that patients with seizure disorders expressed pain with vocal pain expression; and that females expressed pain with more social pain expression while males expressed with more vocalizations. The results support published evidence that parents can articulate their child's pain responses. The study also provides evidence of: 1) opposite pain responses within general categories of pain; 2) a significant relationship between type of pain responses and severity of pain, cause of ID and child gender and; 3) the comprehensiveness of pain assessment tools vary greatly. / Thesis (PhD) — Boston College, 2010. / Submitted to: Boston College. Connell School of Nursing. / Discipline: Nursing.

Vårt syfte med studien har varit att via några lärares uppfattningar få en ökad insyn om grundsärskoleelevers inkludering i grundskolan.     För att samla in data till studien har den kvalitativa forskningsintervjun använts som metod. Studien bygger på åtta intervjuer med grundskollärare som undervisar grundsärskoleelever som är helt integrerade i grundskolan.   Den teoretiska utgångspunkten för studien är det relationella perspektivet och perspektivet KoRP - kommunikation, delaktighet och lärande, som är förutsättningar för att skapa en framgångsrik inkludering.                    Resultatet av studien visar att lärarnas uppfattningar om grundsärskoleelevers inkludering i grundskolans undervisning är komplext, dels utifrån att lärarna saknar kunskaper om intellektuella funktionsnedsättningar, samt att lärarnas olika syn på inkludering inom skolans organisation är otydlig. Lärarna ser att finns såväl utmaningar som möjligheter med att bedriva ett framgångsrikt inkluderingsarbete, men att det är förenat med betydligt större svårigheter att genomföra detta med de elever som läser mot grundsärskolans läroplan inriktning ämnesområden.   Den slutsats som kan dras av studiens resultat är att det finns stora möjligheter till utveckling för grundsärskoleelevers inkludering i grundskolan, det handlar mycket om lärarna får rätt förutsättningar till att kunna bedriva en för eleven givande undervisning. / Our purpose with the study was to gain more knowledge about the effects that shows when teachers work to include students with intellectual disabilities in compulsory schools.   The method we used to collect data was qualitative research interviews. The study is based on eight interviews with teachers in compulsory schools, who work with, or have experience from teaching students with intellectual disabilities, and who are completely included in compulsory schools.   The theoretical basis for the study is the relational perspective and the perspective KoRP, communication, participation and learning, who are important basis for a successful inclusion.   The result shows that the teacher´s perceptions about teaching students with intellectual disabilities in compulsory school are complexed. One of the reasons for that could be that teacher´s knowledge about intellectual disabilities are weak. Another reason could be the differences in teacher`s consensus about inclusion in their organization. The teachers can see both opportunities and challenges to manage a successful inclusion for the students. The biggest challenge with inclusion for students with intellectual disabilities in compulsory schools, is to include the students who don´t read academic school subjects.   The conclusion to be drawn from the result of the study, is that there are great opportunities for development for students with intellectual disabilities by being included in compulsory school. It is about teacher´s possibilities to give the students the teaching they need to succeed.

Ette étude s’inscrit dans le champ des recherches sur le développement sociocognitif des enfants déficients intellectuels porteurs d’une trisomie 21 (T21). Elle porte sur les liens entre les représentations d’attachement et, respectivement, le comportement social avec les pairs et l’attribution d’intentions dans les situations de provocation ambigües. Trente sujets porteurs d’une T21 âgés de 8 à 12 ans, 30 sujets contrôles au développement typique de même niveau de raisonnement (CR) et 36 de même âge chronologique (CA) ont participé à l’étude. Les représentations d’attachement ont été évaluées avec l’ASCT (Bretherthon et al., 1990), le comportement social avec le TASB (Cassidy et Asher, 1992) et l’attribution d’intentions avec une tâche expérimentale que nous avons élaborée. Les résultats ont montré des liens entre représentations d’attachement et comportement social ainsi qu’entre représentations d’attachement et attribution d’intentions chez les sujets T21 et CA mais pas chez les sujets CR. Ces résultats soulignent l’importance de la qualité de l’attachement pour le développement sociocognitif des sujets T21. Des spécificités développementales ont été observées chez les sujets T21, elles pourraient reposer sur un format de représentations implicite, impliquant une rigidité représentationnelle : plus les sujets seraient insécures plus ils intégreraient un modèle relationnel négatif s’exprimant via des automatismes procéduraux, entraînant une conduite moins prosociale avec les pairs et renforçant le biais d’attribution d’intentions hostiles qu’ils présentent dans les situations de provocation ambigües. Des implications cliniques sont discutées. / This study focuses on socio-cognitive development of children with intellectual disability due to Down Syndrome (DS). Links between attachment representations and, respectively, social behavior with peers and attributions of intentions in ambiguous social conflict situations were examined. Thirty children with DS aged 8 to 12, 30 controls matched on level of reasoning (CR) and 36 controls matched on chronological age (CA) participated in the study. Attachment representations were assessed with the Attachment Story Completion Task (Bretherthon et al., 1990), social behavior with the Teacher Assessment of Social Behavior (Cassidy et Asher, 1992) and attributions of intentions with a new experimental task we developed. Attachment representations were associated with both social behavior and attributions of intentions among DS and CA, but not among CR. These findings emphasize the importance of attachment quality for sociocognitive development of children with DS. Children with DS showed developmental specificities which are believed to lie on an implicit and inflexible representational format of information: the more insecure they are the more likely they are to internalize a negative model of relationships via procedural learning, possibly leading to lower levels of prosocial behavior and more hostile attributional biases in ambiguous social situations. Clinical implications are discussed.