Bakgrund: Ungefär en procent av Sveriges befolkning har en utvecklingsstörning. Ett kriterie för att ha en utvecklingsstörning är bland annat ett IQ på 70 eller lägre.  En utvecklingsstörning innebär en nedsättning i de kognitiva funktionerna vilket kan leda till svårigheter med kommunikationen. Bemötandet är ett abstrakt begrepp med olika dimensioner och innefattar bland annat genomförandet av ett samtal. Syfte: Syftet med fördjupningsarbetet var att belysa hur vuxna patienter med en utvecklingsstörning blir bemötta inom vården. Bemötandet beskrivs utifrån patienternas egna, anhörigas och vårdpersonalens perspektiv. Metod: Fördjupningsarbetet är en allmän litteraturstudie genomförd på ett systematiskt sätt. Resultatet är baserat på 12 kvalitativa respektive kvantitativa vetenskapliga artiklar. Artiklarna har kvalitetsbedömts samt bearbetats med hjälp av induktiv innehållsanalys. Resultat: Attityder i bemötandet av patienter med en utvecklingsstörning fungerade överlag positivt, men även negativa attityder förekom. Detta berodde ofta på bristande förståelse. Vårdpersonalen hade ofta bristande kunskaper gällande vård och kommunikation gentemot denna patientgrupp. Det visade sig även att anhöriga och assistenter ofta fick ta stort ansvar i samband med patientens kontakt med vården. / Background: Approximately one percent of the Swedish population has a developmental disability. A diagnostic criteria for developmental disorders includes an IQ below 70. To meet, or to encounter a patient in the right way, is an abstract concept with different dimensions including the ability of having a conversation. Aim: The aim of this study was to illuminate health care professionals attitudes towards adult patients with a developmental disability. The treatment is described from the patient’s own view, the relative’s view and the health care professional’s view. Method: This overview was done in a systematic way. The result is based upon 12 qualitative and quantitative scientific articles. The articles has been quality assessed and processed using an inductive content analysis. Result: In general, health care professionals have a positive attitude towards individuals with developmental disabilities as patients. However negative attitudes did exist, often due to a lack of understanding. Many health care professionals have insufficient knowledge about how to provide care for and communicate with this group of patients. Relatives and assistants often had to take a great deal of responsibility regarding to the context of the patients contact with health care.

Tidigare studier har visat att medelvärdet av en grupps gissningar på en faktabaserad fråga ofta blir närmre det rätta svaret än gissningarna var för sig. Det har visat sig att detta även kan appliceras på den enskilda individen genom att denne gör upprepade gissningar på samma fråga. Vidare har man sett att personer med lägre arbetsminnesspann gynnas mer av detta fenomen än personer med högre arbetsminnesspann. Syftet med vår studie är att undersöka huruvida dessa teorier kan appliceras på en grupp vuxna med utvecklingsstörning. I studien deltog 34 personer, 17 personer i försöksgruppen och 17 personer i en köns- och åldersmatchad kontrollgrupp. Ett gissningstest baserat på frågor om omvärldskunskap där svaren skall anges i siffror användes. Vidare utfördes tester för att undersöka mental ålder, språkförståelse samt två domäner av arbetsminne. Resultaten visar att både kontroll- och försöksgruppen gynnas av att ta medelvärdet av sina gissningar. Vi har dock sett att test av denna art är svåra att applicera på en grupp med utvecklingsstörning. Deras svar tycks inte spegla den förståelse de har för frågan och deras gissningar har en stor spridning både inom och över individerna. / Previous studies have shown that the average of guesses made by a group of people, on a question based on general knowledge, often is better than the single guess alone. This has been shown possible to apply on a single individual by producing multiple guesses. One study shows that individuals with low working memory spans benefit more from this phenomenon than individuals with a higher memory span. The aim of our study is to investigate whether these theories can be applied on a group of adults with an intellectual disability. In this study there were 34 participants, 17 subjects in a trial group and 17 subjects in a gender- and chronological age matched control group. A guessing test with questions based on world facts was used. We also conducted tests to investigate mental age, language comprehension and two different domains of working memory. The results show that both our trial group and control group benefits from taking the average of their guesses, although we have seen that this kind of test is difficult to apply on a group with intellectual disability. During the test situation individuals in the trial prove a certain understanding of the numerals, but the given guess does not always reflect this understanding. Also, their guesses are scattered, both within - and across individuals.

The purpose of this study was to determine the impact of using preferred characters with a constant time delay instructional procedure to teach community sign reading to three students with moderate intellectual disability with the definitions of the signs as non-targeted information. An adapted alternating treatments design was used to evaluate the effectiveness and efficiency of the preferred characters on acquisition of the community signs. Pre- and post- assessments were conducted on acquisition of the non-targeted definitions, as well as generalization of the signs and their meanings. The results indicated that all students learned the target signs and they learned all of the definitions of the signs when they were presented with a preferred character. Students did not generalize the meanings of the signs to community settings.

In 2006, I began working collaboratively with People First members to use video as a means of telling experience-based stories. Although, I found little information that would help prepare me to work collaboratively with people who have been labeled with an intellectual disability. I was acquainted with participatory approaches to making video and with inclusive research methods with people with learning disabilities. After working for over two years and facing a variety of hurdles and barriers, The Freedom Tour documentary was released in DVD in 2008, and a year later, short video stories were published on the Internet as part of the Label Free Zone web-based project. After having worked intensely and with great urgency to “get these stories out,” I felt the need to pause. To reflect upon my experiences and to ask questions about the work I was doing, I chose to write stories adopting an auto-ethnographic approach. Experimenting with auto-ethnography as a method of inquiry and storytelling as a form of representation, gave me the opportunity to experience a process I had encouraged so many others to do: telling experience-based stories. I hope this study will increase our knowledge and understanding of collaborative video storytelling projects involving people who have been labelled. I also hope that by delving into and speaking from my experiences as filmmaker/facilitator, sibling and now auto-ethnographer I have contributed, if ever so slightly, to shifting our thinking about intellectual disability from a deficit perspective to an assumption of competence. / May 2013

Syftet med denna uppsats var att, utifrån yrkesverksammas perspektiv, undersöka socialtjänstens arbete med mödrar med intellektuell funktionsnedsättning i ett nyblivet föräldraskap, samt hur de yrkesverksamma uppfattar detta arbete. För att uppnå studiens syfte har en kvalitativ metod använts. Fem enskilda intervjuer har genomförts med yrkesverksamma inom socialtjänsten i tre olika kommuner i Mellansverige. Resultatet ifrån intervjuerna tolkades och analyserades med hjälp av de två teoretiska perspektiven normalitetsdiskursen och den goda viljans diskurs. Uppsatsens teoretiska ansats kan beskrivas som socialkonstruktionism. Det framkom två övergripande former för socialtjänstens stöd till mödrar med intellektuell funktionsnedsättning: stöd i hemmet och stöd utanför hemmet. Stödet som erbjöds mödrarna skiljde sig inte från det stöd som fanns att tillgå för alla föräldrar som behövde stöd i ett föräldraskap. De yrkesverksamma upplevde att mödrarnas brist på insikt och deras rädsla för socialtjänsten medförde svårigheter i arbetet. Arbetet upplevdes även svårt utifrån en brist på kunskap och adekvata metoder för arbetet med mödrar med intellektuell funktionsnedsättning. Resultatet visade att de yrkesverksamma uppfattade mödrar med intellektuell funktionsnedsättning som avvikande från ett normalt föräldraskap. Det framkom skilda uppfattningar om mödrarnas kapacitet att utveckla ett tillräckligt bra föräldraskap. Stödet som erbjöds mödrarna präglades mer eller mindre av ett kontrollerande syfte. / The purpose of this study was to, based on the social workers perspective, examine social services’ work with mothers with intellectual disability in an early parenthood, and how the social workers perceive this work. To achieve the purpose of this study, we used a qualitative method. We performed individual interviews with five social workers who worked in social service in three different municipalities. The results from the interviews were analyzed by means of the two theoretical perspectives the discourse of normality and the discourse of the good will. The theoretical approach of this study can be described as social constructionism. It appeared two general forms of social services’ support to mothers with intellectual disability: support at home and support outside the home. The support offered to the mothers did not differ from the support that was available to all parents who needed support for parenthood. The social workers felt that the mothers' lack of understanding and their fear of social services caused difficulties at work. The work also experienced difficult from a lack of knowledge and adequate methods for working with mothers with intellectual disability. The results showed that the social workers perceived mothers with intellectual disability as deviant from normal parenting. Differences emerged on the mothers' capacity to develop a good enough parenting. The support offered to mothers was characterized more or less of a controlling purpose.

Intellectual disability is a prevalent developmental disorder for which no effective treatments are available. Mutations of the X-linked protein PHF6 cause the Börjeson-Forssman-Lehmann syndrome (BFLS) that is characterized by intellectual disability and epilepsy. However, the biological role of PHF6 relevant to BFLS pathogenesis has remained unknown. Here, I present my dissertation research demonstrating that knockdown of PHF6 profoundly impairs neuronal migration in the mouse cerebral cortex in vivo, leading to the formation of white matter heterotopias that harbor aberrant patterns of neuronal activity. Importantly, BFLS patient specific mutation of PHF6 blocks its ability to promote neuronal migration. I also elucidate the mechanism by which PHF6 drives neuronal migration in the cerebral cortex. PHF6 physically associates with the PAF1 transcription elongation complex, and inhibition of PAF1 phenocopies the PHF6 knockdown-induced migration phenotype in vivo. I further identify Neuroglycan C (NGC), a susceptibility gene for schizophrenia, as a critical downstream target of PHF6 and the PAF1 complex, and I demonstrate that NGC mediates PHF6-dependent neuronal migration. These findings define PHF6, the PAF1 transcription elongation complex, and NGC as components of a novel cell-intrinsic transcriptional pathway that orchestrates neuronal migration in the brain, with important implications for the pathogenesis of intellectual disability and potentially other neuropsychiatric disorders.

Denna studie bygger på empiri från två genomförda fokusgrupper med syftet att undersöka hur elever med lindrig utvecklingsstörning på gymnasiesärskolan upplever termen särskola. Den teoretiska referensram som använts är ett socialkonstruktionistiskt perspektiv med sär-skild fördjupning på teorier om kategorisering. Studiens resultat analyserades genom tematisk innehållsanalys och resultatet visade att samtliga elever som deltog i fokusgrupperna upplevde termen särskola negativ och att de önskade att termen togs bort. Termen särskola bidrog till tankar och känslor av att vara mindre värd och att vara avvikande. De nackdelar eleverna lyfte med termen och skolformen var att det bidrar till begränsningar, mobbing och stämpling. Ena fokusgruppen upplevde att skolformen som sådan är positiv, medan den andra fokusgruppen upplevde att den är negativ. I båda fokusgrupperna lyftes att vilken annan term som helst vore bättre än termen särskola, men att det inte borde finnas en särskilt term överhuvudtaget. I ena fokusgruppen lyftes oro kring att en förändrad term inte skulle göra någon skillnad. Studiens slutsatser är att terminologin och samhällets attityder bör förändras. Särskild vikt bör läggas vid att informera professionella, som har kontakt med elever på särskolan, om elevernas upp-levelser av termen. Vidare bör termen särskola studeras ytterligare, särskilt ur ett elevperspek-tiv. / This study is based on empirical data from two completed focus groups that explore how stu-dents with mild intellectual disabilities in special secondary schools perceive the term “sär-skola”. A social constructionist perspective is used with particular specialization in theories of categorization. Study results were analyzed trough thematic content analysis and the result showed all participating students experienced disadvantages of the term “särskola”, which they wanted removed. The term contributed to thoughts and feelings of being inferior and deviant. The disadvantages students raised with the term were that it contributes to limits, bullying and stamping. One focus group felt that the school form as such is positive, while the other focus group felt that it is negative. Both groups highlighted that any other term than the existing would be better, but they preferred no special term at all. Concerns were raised that a changed terminology would not make any long-term difference. The study’s conclusions are that the terminology and society's attitudes should change. Particular attention should be paid to inform the professionals, who have contact with students in special curriculum, of students’ experiences of the term. Furthermore, the term should be studied further, particularly from a student perspective.

Legislative changes in line with changing societal perspectives have resulted in increased service pressure on primary health practitioners to take further responsibility for the assessment and treatment of co-morbid psychiatric disorders in individuals with intellectual disability (ID) and for secondary and tertiary level services to reduce waitlists. The unique attributes of the ID population and a core lack of training for health professionals in the ID field has resulted in a large number of practitioners feeling under-trained and under-resourced to carry out this role effectively, to the potential detriment of the ID population. The challenges health practitioners experience when diagnosing co-morbid mental health disorders in individuals with ID and how they overcome these challenges was explored in this study. Participants were health practitioners of varying professions, including Psychiatrists, Clinical Psychologists and General Practitioners. Health practitioners completed an online survey and/or partook in a focus group or individual interview. The method used in this research was thematic analysis. The study found that health practitioners use holistic and contextual approaches to carry out assessments of individuals with ID, utilise ID specific tools, and liaise with experienced, specialised health practitioners as ways of dealing with the complexity of diagnosing co-morbid mental health difficulties in individuals with ID. In addition, it is recommended that more training in the ID area is provided for health practitioners, particularly for GPs in light of recent policy changes with emphasis of assessment and treatment occurring at the primary health level and for best practice guidelines to be developed. A further research project is suggested, exploring specific challenges facing GPs in this area of practice.

Despite broader trends toward the deinstitutionalization of people with intellectual disabilities and evidence that they have a higher quality of life in the community, many in Nova Scotia remain segregated in institutional settings. In response, this thesis examines the reasons why people with intellectual disabilities are institutionalized in the province, and the barriers that exist to embracing policies of deinstitutionalization. Through participant observation, document analysis, and qualitative interview research, several themes emerged regarding the social, economic, and political factors, as well as the conflicting beliefs among implicated community members, contributing to the continued existence of institutions. Drawing on an institutional ethnography approach, this thesis examines how these factors and beliefs are related to neo-liberal philosophies and broader ideological beliefs about disability.

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