Kommunikation är en förutsättning för kunskapsutveckling och delaktighet i samhället. Elever med funktionsnedsättning har ofta svårigheter att kommunicera. Syftet med studien är att beskriva hur den kvantitativa empiriska forskningen framställer resultat av kommunikativa strategier hos elever med funktionsnedsättning och vilka faktorer som påverkar dessa möjligheter. En systematisk sökning av EBSCOhost databaser har gjorts som identifierade 10 kvantitativa studier. Resultatet visar olika strategier för att utveckla kommunikationsfärdigheter hos individer med funktionsnedsättning. Tillgången till återkoppling för lärare och elever, användandet av kamratstödjare som kommunikationspartner, elevassistenter som modeller samt alternativ- och kompletterande kommunikation visade sig ge goda effekter och ökade kommunikationsfärdigheterna hos eleverna. Faktorer som påverkade kommunikationsmöjligheterna visade sig vara kamratstödjarnas och elevassistententernas utbildning, direkt- och visuell återkoppling samt implementerade av alternativ- och kompletterande kommunikation hos omgivningen.  Vi drar slutsatsen att det finns flertal olika strategier som fungerar bra och som ökar kommunikationsfärdigheterna hos elever med funktionsnedsättning, samt flertal faktorer påverkar elevens kommunikationsmöjligheter.

Purpose: A few de novo missense variants in the cytoplasmic FMRP-interacting protein 2 (CYFIP2) gene have recently been described as a novel cause of severe intellectual disability, seizures, and hypotonia in 18 individuals, with p.Arg87 substitutions in the majority. Methods: We assembled data from 19 newly identified and all 18 previously published individuals with CYFIP2 variants. By structural modeling and investigation of WAVE-regulatory complex (WRC)-mediated actin polymerization in six patient fibroblast lines we assessed the impact of CYFIP2 variants on the WRC. Results: Sixteen of 19 individuals harbor two previously described and 11 novel (likely) disease-associated missense variants. We report p.Asp724 as second mutational hotspot (4/19 cases). Genotype–phenotype correlation confirms a consistently severe phenotype in p.Arg87 patients but a more variable phenotype in p.Asp724 and other substitutions. Three individuals with milder phenotypes carry putative loss-of-function variants, which remain of unclear pathogenicity. Structural modeling predicted missense variants to disturb interactions within the WRC or impair CYFIP2 stability. Consistent with its role in WRC-mediated actin polymerization we substantiate aberrant regulation of the actin cytoskeleton in patient fibroblasts. Conclusion: Our study expands the clinical and molecular spectrum of CYFIP2-related neurodevelopmental disorder and provides evidence for aberrant WRC-mediated actin dynamics as contributing cellular pathomechanism.

No description available.

Background: People with intellectual disability are more likely than the general population to be prescribed psychotropic agents. The most common indications include treatment of a psychiatric disorder and management of behaviours that challenge. Aim: The study aimed to assess the prescribing patterns of psychotropic medication to outpatients with intellectual disability at a psychiatric hospital. Setting: Alexandra hospital outpatient clinic, Cape Town. Methods: This was a retrospective folder and prescription chart review. Folders of all new patients (103) seen between January 2018 and August 2019 were examined at two points, the initial appointment and again at six months. The information was examined against the World Psychiatric Association (WPA) and the National Institute for Health and Care Excellence (NICE) guidelines for prescribing in people with intellectual disability. Results: psychotropic medication was prescribed to 88% of patients. Antipsychotics accounted for more than 56% of the medication prescribed and was used mainly to manage behaviours that challenge. Clinicians at Alexandra hospital followed prescribing guidelines to some extent; however, more still needs to be done to ensure best practice and care. Conclusion: This review revealed a few shortcomings in meeting prescribing guidelines by clinicians at Alexandra hospital. Measures to address these shortcomings could be the inclusion of medication review schedules and standardised forms for clerking and monitoring of side effects in patient files, the use of behavioural strategies as the primary management of behaviours that challenge, and the performance of regular clinical practice audits.

Individuals with intellectual and developmental disabilities (IDD) who have committed sexual offenses are a diverse group with complex needs. Because of the nature of their deficits in communication, adaptive skills, social relationships, and cognitive capacity, such individuals may be more likely to be arrested, to confess, to be found incompetent to proceed, to plead guilty, or to be sentenced to a secure facility in response to criminal activity. Understanding the quantifiable differences between sexual offenders with and without IDD could inform and improve policies around the allocation of resources for prevention and treatment efforts for offenders with IDD. The current study seeks to elaborate on our understanding of the characteristics of sex offenders with IDD in comparison with cognitively-normal sexual offenders. A total of 245 patients with and without IDD residing in a secure forensic psychiatric hospital were selected. The sample is predominantly male (90.6%, n=222) and majority Caucasian (53.5%, n=131), African American (42.9%, n=105), and Hispanic (1.6%, n=4) with a mean age of 39.2 (SD=12.0). Participants range from persons with normal cognitive functioning (42.0%, n=103) to those with borderline intellectual functioning (17.1%, n=42), traumatic brain injury (10.2%, n=25), pervasive developmental disability (6.9%, n=17), fetal alcohol syndrome (3.7%, n=9), and IQ scores falling within the range of moderate (4.9%, n=12) and mild (15.1%, n=37) mental retardation. Participants with IDD presented with significant histories of childhood maltreatment and adversity (e.g., neglect), previous institutionalizations and out-of-home placements, and diagnosed impulse control disorders, psychotic disorders, and personality disorders. Generally, individuals with IDD were reported to express deviant sexual behavior in non-contact formats (i.e., sexual behavior that did not result in the victim being physically touched) more so than non-IDD individuals. Further, rates of deviant behavior were comparable between the two groups within community settings. However, while in residential settings those with IDD exhibited significantly more behaviors (p=0.044) than those without IDD. For the most part, the current empirical literature seemingly overlooks individuals with IDD residing in secure forensic settings. Particularly, little focus is given to the differences and similarities between individuals with various types of IDD. Understanding the clinical, behavioral, and criminal characteristics of this population could have valuable implications for the diagnosis, treatment, and rehabilitation of offenders with IDD.

Screening the Utah State Training School (a resident institution for the mentally retarded) for kindreds having at least two institutionalized sibs generated 54 sib groups. Of these, 20-male only sibships had histories compatible with sex-linked mental retardation without physical stigmata (Martin-Bell or Renpenning type). Affected males had no characteristic physical stigmata (an appreciable number did have speech problems and/or seizure disorders) and exhibited IQs ranging from 5 to 74 with a mean of 34.2. Obligate carrier females had a mean IQ score of 91.9 (range, 79 to 106), which is as would be predicted due to random X-inactivation. Carrier females were tested with the MMPI, and showed elevated profiles. The results also indicated that the FAM scale would differentiate between groups of carrier females and normal females and between groups of carrier females and other females who had retarded children. It is suggested that the extension of psychometric methods may be useful in the identification of high risk females. Identification of these females would then allow for accurate genetic counseling, an objective which has not yet been achieved.

This master’s thesis research focuses on the experiences of people labelled/with intellectual disability in their current homes and also what they want for their future home. Few studies in Canada have focused on specifically asking this population what their ideal home looks like and acknowledging the gap between this and what their reality is. Advocacy groups in Canada and the United Nations Convention on the Rights for Persons with Disabilities have been calling for years to better address the rights of people with disabilities and their place in the community, yet there has been little progress within Ontario towards this. Using semi-structured interviews and an arts workshop, participants were asked to think about what their life is like now and what their aspirations are for their future. The research is based on a relational model of home as more than just a physical structure and expands the definition to include the neighbourhood, relationships, and support that participants experience, which shape their home and their feelings of belonging inside and outside of it. Findings show that, while there were opportunities for agency within their homes and relationships, there are many restrictions to attaining their ideal home, including funding constraints, long wait lists, and few choices for what type of housing they receive. The findings of this study have important implications for ideas of belonging and processes of home-making within geographic research, as well as for future policy based on housing for people labelled/with intellectual disabilities in Ontario. / Thesis / Master of Arts (MA)

No description available.

No description available.

No description available.