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.

Systematic review is a type of review that identifies, assesses, and combines all the published empirical evidence on a specific topic by using explicit, systematic methods. This type of reviews often includes a meta-analysis, a statistical tool used to combine the collected data into a quantitative summary estimate. Guidance documents such as the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) were developed to improve the reporting of systematic reviews of randomized controlled trials. Systematic reviews are commonly used in the field of healthcare research and are increasingly being employed in the field of environmental epidemiology. Environmental epidemiology studies examine exposures in populations and their associations with health outcomes. This field contains several unique considerations that require a careful and critical assessment to ensure the validity of results and to make the data or information more useful for the readers. However, to our knowledge, there is currently no guidance document for conducting systematic reviews that comprehensively addresses the specific issues in this field. Therefore, the objectives of this proposal are twofold: (1) to conduct a systematic review of the currently published epidemiology systematic reviews on a specific topic (mercury exposure and children autism spectrum disorder) to identify analytical issues encountered, and (2) use the experience and other potential solution identified in the literature to develop a guidance or recommendation document for conducting systematic reviews of environmental epidemiology studies. Akin to reporting guidelines for randomized controlled trials, a reporting guideline for environmental epidemiology is anticipated to increase the clarity and transparency of publications and enhance the usefulness of systematic reviews for knowledge synthesis.

Dès les descriptions princeps des Troubles du Spectre de l’Autisme (TSA), l’accent a été mis sur les perturbations de l’identité subjective qu’il est possible d’étudier grâce à la conceptualisation de Conway qui fait interagir le self et la mémoire autobiographique. En nous basant sur ce modèle, nous avons exploré les spécificités du self dans les TSA Sans Déficience Intellectuelle (TSASDI) à travers l’étude de ses dimensions subjectives, conceptuelles et structurelles. Nos résultats retrouvent une atteinte du self au niveau structurel mais pas conceptuel ou subjectif. De plus, nous avons montré une atteinte de la fonction sociale de la mémoire autobiographique et que les images de soi sociales appartenant au self étaient associées à des souvenirs qualitativement différents. Nos résultats nuancent l’altération de la composante épisodique de la mémoire autobiographique et invitent à préciser l’influence des relations sociales sur le self et la mémoire autobiographique dans ces troubles. / Since first descriptions of Autism, disorders of self have been seen as key symptoms. The Self-Memory System put forward by Conway describes the reciprocal relationships between the self and autobiographical memory. This model was the theoretical background of our investigations of the specificities of the self in adults with Autism Spectrum Disorder without Intellectual Deficiency. We addressed three issues: structural aspects, concepts and subjective characteristics of the self. Our results showed an impairment of structural aspects of self while concepts and subjective characteristics were spared. Indeed, we found that the social function of autobiographical memory was altered and that social self-images belonging to self-concepts were related to qualitatively different memories. Our results challenge the episodic autobiographical memory deficit classically reported and encourage new researches to explore the impact of social relationships on the self and autobiographical memory.

Autism spectrum disorder (ASD) is associated with functional abnormalities of the anterior cingulate cortex (ACC), a brain area that mediates social behavior. Given evidence of a role of inflammation in ASD, markers of pro-inflammatory and anti-inflammatory microglia were studied using postmortem ACC tissues from ASD and age-matched typically developed control donors. Gene expression levels of pro-inflammatory (CD68, HLA-DRA, IL1B, NOS2, PTGS2) and anti-inflammatory (ARG1, IGF1, MRC1, PPARG) microglial genes were measured using quantitative real-time PCR. Additionally, brain sections were immunohistochemically stained for a microglial marker. Expression levels of IGF1 were modestly higher, while the expression of MRC1 was modestly lower in ASD donors when compared to control donors. No other differences in gene expression levels between the two groups of donors were observed. Statistical significance for changes in expression levels IGF1 and MRC1 did not survive correction for multiple comparisons. Further research on anti-inflammatory microglial involvement in ASD is warranted.

Background: Students with ASD are facing challenges in inclusive school settings. Despite some research have explore some components of peer-mediated intervention, there is gap between the practical implementation and current knowledge. Research aim: The research aims to synthesize the knowledge about school-based peer-mediated intervention for children with ASD. Method: The systematic review was applied in this research. Intervention component analysis to identify the component of PMI. Reichow’s evaluation instrument were used to assess the quality of included studies.  Conclusion: The content of peer-mediated intervention includes the PMI types, intervention intent and the combination of phases. Intervention outcome includes the measure methods and the result of outcome. The shared phases of conducting peer-mediated interventions are students recruitment, peer training and students meeting. The components of peer training are training package, deliver method and intensity. The components of students meeting are setting, context and intensity. Three of studies were assessed as strong quality of research, ten studies were assessed as adequate quality of research.

Adults with a diagnosis of High Functioning Autism Spectrum Disorder (HF ASD) are becoming a significant presence on college campuses across the United States. A number of colleges have created programs to provide services to support accommodations for these students under the Americans with Disabilities Act (ADA); the first was created in 2002. The creation of these programs does not guarantee success. The use of the logic model in the formative evaluation process has been found to be a key foundation for the establishment of an effective program. The logic model provides a visual representation of the defined problem, the resources and services, and the data sources which provide documentation of service delivery and the intended outcomes of the program. This study is a formative evaluation that uses a logic model approach conducted during the second year of an Autism Spectrum Support Program. This study analyzed data generated by 25 adult participants (20 male, 5 female) between the ages of 18 and 30 with a diagnosis of HF ASD to determine what changes to the program were required. The logic model served a dual purpose in this evaluation. First, it provided a visual representation of the services provided. Second, it served as a template for the organization of the program data. Methodological problems, suggested program changes, and future research directions are discussed.

Upptäckten av autism hos barn i tidig ålder kan ha stor betydelse för barnens framtid. Förskolan och förskollärarna är därför av stor betydelse i det stöd som barnen kan komma att behöva. För att förskolelärarna ska kunna ge det rätta stödet måste personalen ha kunskap om hur man arbetar och bemöter barn med autism. Studiens syfte är att undersöka hur förskolelärare arbetar med barn med autism som är i behov av särskilt stöd. Frågeställningen tar upp vilka kunskaper förskolelärarna anser behövs kring autism och vilka metoder som används i arbetet med barn med autism. Förskolelärarnas bemötande och arbetssätt är av stor vikt för barnens trygghet samt utveckling. För att besvara studiens syfte och frågeställning har den kvalitativa forskningsmetoden semistrukturerad intervju använts. För att analysera empirin, har Vygotskijs sociokulturella perspektiv använts samt Antonovskys känsla av sammanhang (KASAM). Resultatet visar att största vikten i förskolelärarnas arbete med barn med autism ligger i tydlighet, struktur, lyhördhet och att se till varje barns behov. Det arbetas med att hitta de metoder och verktyg som kan komma att behövas för att göra barnens vardag begriplig, hanterbar och meningsfull. Stöttning, handledning, fortbildning och samverkan lyfts som det som det måste arbetas vidare med i det fortsatta arbetet med barn med autism. Studien belyser även förskolelärarnas uppfattning av sin egen roll i arbetet med barn med autism. / To discover autism at a child's early age can be of great importance for the child's future development. Pre-schools and pre-school teachers are therefore of great importance in the support that the child may need through the coming years. For pre-school teachers to be able to provide the correct support, the staff must have the correct knowledge in how to work and meet the needs of children with autism. The aim of this study is to investigate the way that pre-school teachers work with children with autism. Issues that are brought up in the study involve to see what pre-school teachers consider necessary knowledge concerning children with autism and what methods are used in their daily routines. Pre-school teachers' behaviour and working methods are of great importance for the children's feeling of wellbeing and development. To answer the aim and the issues of the study, the qualitative research method used is semi structured interviews. To analyse the empiricism, Vygotsky's socio-cultural perspective has been used, as well as Antonovsky's sense of coherence (SOC). The results show that pre-school teachers most important work with children with autism are clarity, structure, responsiveness and to cater for each child's individual needs. Work is done to find the methods and tools that may be needed to make the children’s daily life understandable, manageable and meaningful. Support, tutoring, continued education and collaboration are raised as things that must be further worked on in the continued work with children with autism. The study also highlights the pre-school teachers own perception of their role in the work with children with autism.

The aim of this study was to investigate what kind of support a parent with autism spectrum disorder receives from the municipality and further the purpose was investigate which possibilities and difficulties professionals are experience in their work with these parents. To answer this subject empirical material was collected with a qualitative method in form of four semi-structured interviews. Interviews wore made with four people, with three different positions of employment. To analyse the gathered material the method coding and thematization were used. The empirical material was later analysed using current knowledge in the field and Goffman's theory of stigma.The results showed that the professionals often do have a good picture of what type of difficulties the parents have. They all work to support the parents but they have got different possibilities to do so. Further the results show that most parents with autism spectrum disorder can be satisfying in their role as parent as long as they are given the right amount of support in a longer period of time. There is also signs that knowledge about these parent are varied and that there is some confusion about each others task assignments.