Bakgrund: Autismspektrumtillstånd (AST) är ett samlingsnamn för flertalet neuropsykiatriska funktionsnedsättningar. Oförståelse, bristande helhetssyn samt behov av rutiner utmärker diagnosen. Kommunikation och kunskap om AST är något som brister i möte med dessa patienter. Därmed är kunskap om AST samt hur dessa patienter upplever mötet med vården betydande för att främja omvårdnaden och deras hälsa. Syfte: Att beskriva sjuksköterskors erfarenheter av att möta patienter som har diagnostiserats med autismspektrumtillstånd. Metod: En litteraturöversikt med kvalitativ och kvantitativ ansats baserad på tio vetenskapliga artiklar. Resultat: Ur analysen framkom två teman; anpassning och förberedelse för att möta patientens behov samt kunskapens och kompetensens betydelse i mötet, med fyra underteman. Slutsats: Sjuksköterskan ska i mötet vara engagerad i patienten och dess situation samt ha en god dialog med närstående och arbeta i team för att finna rätt tillvägagångssätt i mötet. Det är viktigt att sjuksköterskan har kunskap och utbildning kring AST och de olika kommunikationshjälpmedlen som anses vara en av de mötesfrämjande faktorer. / Background: Autism spectrum disorder (ASD) is a collective name for many neuropsychiatric disabilities. Understanding, routines and a lack of overall perception characterize the diagnosis. Communication and knowledge about ASD is something that fails in meeting with these patients. Therefore, knowledge of ASD and how these patients experience the meeting with care are significant in promoting nursing and their health. Aim: To describe the nurses experience of meeting patients diagnosed with ASD. Methods: A literature review with qualitative and quantitative approach based on ten scientific articles. Results: The analysis revealed two themes; adaptation and preparation in the meeting as well as the importance of knowledge and competence in the meeting, with four sub-men. Conclusion: The nurse should be engaged in the patient and it´s situation in the meeting and have a good dialogue with close associates and work in teams to find the right approaches in the meeting. It´s important that the nurse has knowledge and education about ASD and the various communication aids that are considered to be one of the promotional factors.

Transitions within the school setting have been a challenge for school staff working with students with autism spectrum disorder (ASD). Teachers and students lose valuable academic time when the procedures in place are not working to create a quick transition - decreasing problem behavior, and increasing learning time. Students with ASD typically have a difficult time transitioning frequently throughout a school day, and problem behavior can be more apparent during this time. Hine, Ardoin, and Foster (2015) found that a computer-assisted instruction (CAI) based intervention was successful in decreasing classroom transition times for students in general education. The purpose of this study was to evaluate the effects of a similar CAI based intervention to decrease latency to on-task behavior during transitions in a classroom with students diagnosed with ASD. Two different transitions within a classroom were evaluated using the CAI-based intervention with three student participants diagnosed with ASD. Results indicated using a CAI-based intervention in collaboration with teacher input decreased latency to on-task behavior for all three participants for both transitions without the use of a group contingency or reinforcement component. High implementation fidelity and social validity scores demonstrated acceptance of the intervention by both teacher and student participants.

Background: The two most common neuropsychiatric disabilities are attention deficithyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Functional impairmentsentail some difficulties for the child that affects the family situation such as interaction withother people and learning and memory difficulties. Aim: The aim of this study was to illuminate the family's experience of living with childrenwho have a neuropsychiatric disability. Method: A qualitative approach was used for this literature based study. The CINAHL and PubMed databases were used to search for scientific articles. Through systematic searches we found ten articles and these were analyzed using Friberg's five-step method. Results: The result is presented on the basis of three themes: An everyday battle, Experiences of understanding and support from the outside world and Family life in light and darkness. It shows that it was a daily struggle for family members in their daily lives. The parents experienced a lack of understanding from the outside world and received limited support. Several parents felt socially isolated and alone. Their daily situation ended up in strong emotions. Conclusion: This study provides an understanding of how family members experience their everyday situation with the child with neuropsychiatric disability. The family relationship was affected in one way or another and it was important for family members to receive support. The nurse has an important responsibility to provide the support and care that family members need to avoid suffering.

iii Abstract Sibling relationships are amongst the most influential relationships in one’s life. Bringing autism spectrum disorder (ASD) into these interactional dynamics has a marked influence on these relationships for both the sibling with ASD and the typically developing siblings. The main aim of this study was to investigate how typically developing adolescents describe their present attitudes towards their sibling with ASD, compared to their attitudes when they were younger. Thirty typically developing adolescents who have siblings with ASD were selected to complete the survey instrument, namely the Modified Lifespan Sibling Relationship Scale (MLSRS). The survey instrument operated on the conceptualisation of attitudes as consisting of three components: affective, cognitive and behavioural. The results indicated that the majority of adolescents have very strong positive feelings towards their sibling (affective component), both at the time of the research and when they were younger. Their beliefs about their siblings and their relationship with them (cognitive component) have become more positive as they became older. Their actual interaction (behavioural component) was, however, found to be significantly lower than their feelings towards their siblings (both as adolescents and as younger children) and their beliefs about their relationships as adolescents. This study highlighted the need for children who develop typically to be taught how to interact effectively with their sibling with ASD and the need for siblings to be provided with age appropriate information about their sibling’s disorder. The results also indicate that although most of the children seemed to be coping well with the extra demands placed on them they would nevertheless still be able to benefit from support groups for siblings of children with ASD. / Dissertation (MA)--University of Pretoria, 2014. / gm2014 / Centre for Augmentative and Alternative Communication (CAAC) / unrestricted

The purpose of this study was to identify characteristics pertaining to emotional intelligence (EI) that parents and Foundation Phase teachers may use when supporting learners with autism spectrum disorder (ASD) in an inclusive classroom setting. Teachers are facing various degrees of challenges due to the demands of a range of diverse needs attributable to the influx of learners with disabilities in the school system. Given the increase in the number of children diagnosed with ASD, research indicates that it is likely that teachers will encounter learners with ASD in their classes. Teachers are generally not trained to identify and cope with such a disability, as many requirements of these learners are beyond the services of a general school system. A multiple case study was conducted where the perspectives of a teacher and two parents were gained, in order to understand experiences with children with ASD from the participants' point of view. The primary aim of this study was therefore to provide both parents and teachers with listed characteristics of EI that they could utilise while supporting learners with ASD in households or the educational sphere. Findings illuminated the collective characteristics of learners with ASD, which include intense obsessions with a narrow range of subjects, repetitive routines, central coherence difficulties and problems with social-emotional functioning, communication and executive functioning. These indicators require specific responses from parents and teachers to effectively provide support to these learners. Qualities identified that relate to EI are patience, empathy, problem solving skills, working collaboratively with parents and being proactive. The main recommendation relates to specific training in EI skills, to prepare student teachers in supporting the growing number of learners with ASD in their classes. / Dissertation (MEd)--University of Pretoria, 2017. / Early Childhood Education / MEd / Unrestricted

One of the defining characteristics of Autism Spectrum Disorder (ASD) is repetitive, rigid, or stereotyped patterns of behavior. A proposed approach to treating such patterns is to provide reinforcement for response variability. Though research demonstrates that the variability of responses can be influenced by contingencies of reinforcement, no studies have examined the effects of placing contingencies on different units of behavior. The purpose of this study was to examine effects of two modified percentile schedules on variety of completed drawings and individual lines drawn by students with ASD who had been referred for engaging in rigid patterns of behavior. For all three participants that completed drawing sessions, results indicated that drawing variability increased the most when reinforcement was contingent on the variability of the completed drawing, as opposed to a random ratio schedule of reinforcement or reinforcement being contingent on individual lines being varied.

The purpose of this study was to evaluate the process and outcomes of using the Teaching Tools for Young Children with Challenging Behavior (TTYC) with two kindergarten classroom teachers and two high functioning children with autism spectrum disorders engaging in moderate problem behavior during daily classroom routines. The focus was to evaluate the extent to which the kindergarten teachers could adequately use the TTYC toolkit with minimal behavioral consultation in the assessment and intervention process and to examine its impact on student behavior. A multiple baseline design across routines was used for each child to evaluate the child outcomes. The results indicated that the teachers successfully used the TTYC toolkit to design and implement routine-based intervention plans with fidelity, and their implementation of the intervention plan led to increased replacement behavior and decreased problem behavior across routines for both children. Improved levels of behaviors were maintained at 2-week follow up for one child.

This qualitative research study explored areas of similarity and contrast between a music therapy student's interpretations of selected audiovisual excerpts from music therapy sessions with a child with Autistic Spectrum Disorder (ASD), and his parent's interpretations of the same. A further feature of the study was investigating how these interpretations could inform the collaborative creation of a music activity for use in the home environment. Eight one-on-one music therapy sessions were conducted with an eight year-old boy with ASD at Alpha School in the Western Cape. The sessions were video recorded. Once the music therapy process was complete, four primary excerpts and five secondary excerpts were selected. Interpretations of the four primary excerpts were written by the music therapy student. A semi-structured interview consisting of two parts was then conducted with the child's parent. Part one involved eliciting the parent's interpretations of the four primary excerpts. Part two involved the viewing of the five secondary excerpts as part of a discussion between the music therapy student and parent, leading to the collaborative creation of a music activity for the home environment. The interpretations of the music therapy student and parent were matched with the music therapy student's interpretations for the purposes of qualitative content analysis and comparative analysis. Codes were derived for the interpretations, and then grouped into sub-categories and categories. Two overarching themes were then drawn from the data: operation of the music therapy student's contextual lens; and operation of the parent's lens. Within these two themes, different sub-themes were present: music therapy student’s reflexivity; focus on developing relationship; focus on clinical musical features; valuing offerings as musical; parent's pride in her child; noticing musical interactions; and focusing on successful interactions. These themes then implicitly informed the collaborative creation of a music activity for the home context. / Dissertation (MMus)--University of Pretoria, 2017. / Music / MMus / Unrestricted

Os transtornos do espectro autista (TEA) são distúrbios neuropsiquiátricos bastante comuns, graves, e que propiciam grande impacto social e financeiro. A identificação de vias moleculares e processos celulares alterados que são compartilhados pelos pacientes, mesmo que estes apresentem causas etiológicas distintas, pode contribuir de forma significativa para o entendimento de sua patofisiologia desses transtornos. Ainda, a identificação destas vias pode propiciar o desenvolvimento de abordagens terapêuticas mais eficientes, uma vez que o uso de medicamentos nos TEA ainda é inadequado, envolvendo baixa melhora funcional e diversos efeitos colaterais, como o ganho excessivo de peso e anormalidades metabólicas associadas. Neste trabalho, selecionamos como uma primeira abordagem o estudo da via de sinalização PI3K-mTOR em pacientes com TEA não-sindrômico, via esta envolvida com diversos aspectos do desenvolvimento e funcionamento neuronal, assim como com a patofisiologia de síndromes monogênicas que apresentam alta prevalência de TEA em seu quadro clínico. Foram utilizadas como modelo experimental in vitro células-tronco mesenquimais provenientes de polpa de dente decíduo (SHEDs) de pacientes e indivíduos controles. Os resultados aqui obtidos sugerem a importância da desregulação da via PI3K/mTOR na patofisiologia de uma parcela importante dos casos de TEA não-sindrômico. Ainda, observamos que as células dos pacientes com alterações nessa via de sinalização apresentam maior capacidade proliferativa, e que a modulação deste fenótipo alterado por meio do uso concomitante de inibidores de PI3K e mTOR nas células de um destes pacientes sugere esta via como um alvo promissor para o desenvolvimento de novas abordagens terapêuticas para estes pacientes. Em seguida, na tentativa de desvendar os mecanismos subjacentes aos efeitos metabólicos adversos associados com o uso de antipsicóticos prescritos para o tratamento de pacientes com TEA, investigamos os efeitos destes psicofármacos sobre a biologia do tecido adiposo humano. Foram utilizadas como modelos in vitro células-tronco (ADSCs) e adipócitos maduros derivados de tecido adiposo humano de indivíduos controles. Os resultados obtidos sugerem que a ação direta dos antipsicóticos com alta propensão ao ganho de peso (como a olanzapina e a clozapina) sobre a proliferação, diferenciação, e o metabolismo do tecido adiposo humano parece não constituir um mecanismo importante associado ao ganho de peso apresentado pelos pacientes, e que a ação desses medicamentos sobre os sistemas centrais que regulam o peso e o metabolismo deve ser o mecanismo principal levando aos efeitos metabólicos adversos. Juntos, os resultados gerados neste trabalho podem, de certa forma, contribuir para da farmacoterapia dos TEA / Autism spectrum disorders (ASD) are common neuropsypchiatric disorders, which has serious social and economic impacts. Identification of common molecular and cellular processes altered in patients, despite the underlying genetic heterogeneity, can contribute significantly to our understanding of the disease pathophysiology and can help to develop more effective treatments, since available pharmacotherapy for ASD is inefficient and frequently associated with adverse side effects, such as weight gain and metabolic disturbances. Here, we used patient-derived Stem cells from Human Exfoliated Deciduous teeth (SHEDs) as an intro model system to investigate whether non-syndromic ASD patients show altered regulation of PI3K/mTOR signaling pathway, which is involved in multiple aspects of neuronal development and physiology, and in the pathogenesis of monogenic syndromes that share features with ASD. Our results suggest that dysregulation of PI3K/mTOR-linked networks play an important role in the pathogenesis of a subgroup of non-syndromic ASD. In addition, we found enhanced proliferative capacity in cells with altered PI3K/mTOR activity, which was rescued in one of these patients through combined pharmacological inhibition of both PI3K and mTOR kinase activity, suggesting that PI3K-mTOR signaling is a promising target for the development of new therapeutic approaches for these individuals. Next, in an attempt to better understand the mechanisms underlying the metabolic side effects of the antipsychotics prescribed for ASD treatment, we investigated the effects of some of these drugs on the biology of human adipose tissue using as in vitro model systems human adipose-derived stem cells (ADSCs) and mature adipocytes. Our results suggest that a direct and potent effect of antipsychotics with high weight gain liability (such as clozapine and olanzapine) on cell proliferation, differentiation, and metabolism of human adipose tissue is not an important mechanism by which these drugs induce metabolic disturbances. Consequently, our results suggest that these side effects may mainly reflect the action of these drugs on central pathways involved in weight control and metabolism. Together, our results can, to some extent, contribute to improving pharmacotherapy of ASD

Autism Spectrum Disorder (ASD) is a diverse disorder, and the heterogenous range of possible presentations hinders our understanding of its aetiology. Recently there has been a surge of genome wide association studies for ASD, while historically psychological theories were relied on to explain the emergence of ASD. These fields continue to provide insights into ASD, but they tend to operate in parallel – genetic studies often lack comprehensive psychological phenotyping and theoretical backing, and psychological studies tend to lack genetic explanations. I propose that moving forward, genotype-phenotype studies should have a strong foundation in both fields and should focus on genes and theories with realworld implications for ASD diagnostics and/or interventions. This approach can be supported by focusing on established, well supported psychological theories, and selected ASD candidate genes that could be implicated in these theories, and ideally the genetic mechanism implicated should be one that can be targeted by existing medications. I therefore selected two prominent psychological theories, the Social Motivation Theory for ASD (Panksepp, 1979) and the ToM Theory for ASD (Baron-Cohen et al., 1985), and selected an ASD candidate gene that was likely implicated in each of these theories, namely the mu-opioid receptor gene (OPRM1) and the serotonin transporter promoter length polymorphism (5-HTTLPR) respectively. For the first study of this protocol, I assessed the possible relationships between social motivation, OPRM1, and the ASD phenotype. For the second study, I assessed possible relationships between ToM deficits, 5-HTTLPR, and the ASD phenotype. These two studies shared a sample of 153 male children 4-16 years old; 51 boys per group (i.e. non-verbal ASD; verbal ASD; neurotypical). All ASD children completed ADOS2 assessment for ASD phenotyping. For the Social Motivation Study, attachment was used as a proxy to assess level of social motivation in all participants, and 76 of the 102 children with ASD provided DNA for OPRM1 genotyping. Comparisons across all three groups showed that the ASD samples had significantly lower social motivation than the neurotypical sample, with the non-verbal ASD group displaying the most severely reduced level of social motivation. Reduced social motivation was associated with ASD-related deficits in the non-verbal ASD sample but not the verbal ASD sample. Finally, I was unable to statistically assess the role of OPRM1 as hypothesized, due to an unprecedentedly high rate of the OPRM1 G allele, which indicated atypical mu-opioid processes. This clearly implicated OPRM1 in ASD and is the first study to show this so convincingly. Overall, this study's findings led me to suggest that Panksepp's (1979) theory could be updated to include a threshold effect such that more severely reduced social motivation in ASD is associated with little-to-no language acquisition, while those with less severely reduced social motivation are able to develop language and this protects against associations between social motivation and ASD-related deficits in childhood. For the Theory of Mind Study, the verbal ASD sample and neurotypical sample completed a developmental ToM Battery (i.e. University of Cape Town Theory of Mind Battery) and WASI assessment to establish verbal intelligence quotient (VIQ) scores, and 70 of the children with ASD were successfully genotyped for 5-HTTLPR. This study found that verbal male children with ASD tended to be one developmental stage behind age-matched neurotypical peers on ToM tasks. ToM deficits were associated with greater impairment in overall ASD severity and in symptoms from the social communication and interaction domain. For the non-verbal ASD sample, the 5-HTTLPR short allele, which is implicated in atypical serotonergic transmission, was associated with greater impairment overall and in the restricted and repetitive behaviours and interests symptom domain. No associations between 5-HTTLPR and ToM, or with ASD-related symptoms, was found for the verbal ASD group. This again suggested that language acquisition is an important consideration in genotypephenotype studies in male children with ASD.