The term ‘autism’ was first used in 1906 to describe a condition in adults. The term was later used again in 1943 and 1944 by Leo Kanner and Hans Asperger respectively who used the term to describe symptoms found in children. Autism was a relatively unknown condition until the 1980s and 1990s when research on the condition began to increase. The increase in research and availability of information lead to a better understanding of autism and related disorders and there has since been an increase in the number of people diagnosed with 1 in 150 children being diagnosed with autism in South Africa. Autism manifests before 36 months of age with males being four times more susceptible to Autism Spectrum Disorders than females. Research available on autism and related conditions has focused largely on scientific studies in the attempt to discover a cause for the disorder and a cure for it. In recent years there has been an increase in parents writing about their experiences with their children who have autism, however very little literature is available on non-kin care-givers and their experiences in working with children with autism. This thesis provides a view into the world of the non-kin care-giver through research carried out at two school sites in the KwaZulu-Natal region. This research through participant observation and interviews aims to fill the gap in the literature regarding non-kin care-givers of children with autism. The study looks at why non-kin care-givers choose to work with children with autism, the stress and challenges associated with working with children with autism, the highlights and personal impacts of working with children with autism and why non-kin care-givers continue to work in this field. In addition this thesis looks at the experiences of parents of children with autism and as such aims to describe a symbolic journey that parents and non-kin care-givers embark on with autism. In order to understand this symbolic journey this thesis has used the theoretical framework of van Gennep’s (1960) Rites de Passage and Goffman’s (1969) Spoilt Identity and Stigma, analysing each stage of the participants involvement in relation to the concepts of separation, transition or liminality and finally incorporation. By using these theories to analyse the research findings this thesis argues for the formation of a group identity through shared experiences and understandings of autism and in this way for the creation of an Autism Community. / Thesis (M.Soc.Sc.)-University of KwaZulu-Natal, Durban, 2012.

Therapeutic horseback riding can be recommended as a useful health promotion intervention for individuals with disabilities who face challenges to optimal health and wellness. This qualitative study examined the perceived benefits of a therapeutic riding program for children with autism spectrum disorders (ASD), with particular focus on aspects that can potentially help maximize the physical, emotional, and social health of this population. This study utilized multiple methods to gain an in-depth perspective on the benefits of a therapeutic riding program based at Central Kentucky Riding for Hope in Lexington, Kentucky, for subjects presenting primarily with ASD. Focus groups were held with five instructors and five class volunteers, and semi-structured personal interviews were conducted with two staff members and the parents and family members of 15 children diagnosed with ASD who were currently enrolled a riding session. Client records containing medical history, lesson plans and client evaluations were also reviewed. Thematic analysis of the data supported perceived gains in the areas of physical, cognitive, psychological, and social development and also highlighted additional support mechanisms for family members of the clients. Some of the most common benefits reported included increased physicality, improved focus and attention, modification of inappropriate behaviors, enhanced self-concept, and increased social interaction and communication. Major factors believed to affect the success of this intervention were the unique movement and sensory stimulation of the horse, the supportive environment of the facility, and the increased motivation for the children to participate and complete the structured activities and exercises required in the riding class setting. Results of this study encourage the utilization of therapeutic riding as an effective health promotion intervention for individuals with ASD. Recommendations for future research efforts include analysis of the effects of deep sensory pressure and the movement provided by the horse on the emotional regulation and cognitive processing of children with ASD. Study designs isolating the variable of the horse’s presence could further clarify the nature of the animal’s role in similar interventions. Quantitative studies with larger samples measuring specific cognitive, psychological, and social variables not previously studied but revealed in this data are also encouraged.

The purpose of the studyfocuses onhow teachersatan uppersecondary school, studentsin the autismspectrum,describetheir experiencesof working withmappingtools, Nylander(2012).Inmy research questionsIstarted fromthe teachers’ descriptions of their experiences of mapping procedures, if the outcome ofthe mapping hasinfluenced theteachers'educational work and ifmappingcould contribute tothe visibilityandclarification of the student´s functioning in aschool context. As the study is based on five interviews in which teachers reflect on their experiences from the tool of mapping, the socio-cultural perspective where learning takes place through interaction with the environment became a framework to build from. The method has been interviews based on a qualitative research interview. By using interviews, I was able to capture the diversity of the interviewees’ experiences described from the basis of an interview guide. This process also allowed room for flexibility where the interviewees were given the opportunity to elaborate on their views and ideas. This flexibility added valuable aspects of the teachers' experiences of mapping.   In the analysis ofmy result, I found that mappingwas importantin situations wherethe student'scontextneeded tobe made visible.The teachersexplained that themappingtoolwasan aidin understandinglearning andmoodas well asin detecting recurringpatterns in learning and mood. Based onthis information,teachersoccasionallyandin limitedcontextshave been able toadjust their teaching. Italso emerged that thetool of mappinghad notchanged theteachers'way of educating, butrather been used as a complementtothe learning situation. / Studiens syfte fokuserar på hur pedagoger på en gymnasiesärskola, elever inom autismspektrat, beskriver sina erfarenheter av att arbeta med ett kartläggande verktyg, Nylander (2012). I mina frågeställningar har jag utgått ifrån hur pedagogerna beskriver sina erfarenheter av kartläggningens genomförande, om resultatet av kartläggningen påverkat pedagogernas arbete i undervisningen och om kartläggningen kan bidra till ett synliggörande och tydliggörande av elevens fungerande i dess skolsammanhang.   Då studien bygger på fem intervjuer där pedagoger reflekterar utifrån verktyget kartläggning blev det sociokulturella perspektivet, där lärandet sker i samspel med omgivningen, en grund att utgå ifrån. Metoden har varit intervjuer utifrån en kvalitativ forskningsintervju. Genom att använda intervjuer kunde jag fånga den mångfald som de intervjuade beskrev utifrån en färdig intervjuguide. I denna process gavs även utrymme för flexibilitet där de intervjuade erbjöds möjlighet att utveckla sina synpunkter och idéer. Denna flexibilitet adderade värdefulla aspekter av pedagogernas erfarenheter kring kartläggning.     I analysen av mitt resultat fann jag att kartläggningen hade betydelse i situationer där elevens sammanhang behövde synliggöras. Pedagogerna förklarade att verktyget kartläggning blev ett stöd till förståelse av lärande och mående samt upptäckten av återkommande mönster i dessa. Utifrån denna information har pedagogerna stundtals och i begränsade kontexter kunnat anpassa undervisningen. Här framkom även att verktyget inte hade förändrat pedagogernas sätt att undervisa, utan snarare blivit ett komplement i lärsituationen.

Bakalauro darbe nagrinėjami augmentinės ir alternatyiosios komunikacijos taikymo ikimokyklinio amžiaus vaikams, turintiems autizmo spektro sutrikimų ypatumai. Siekta nustatyti, kaip komunikuoja autizmo spektro sutrikimų turintys vaikai, kokias augmentinės ir alternatyvios komunikacijos priemones naudoja. Tyrime dalyvavo 11 pedagogų (logopedai, auklėtojai), dirbantys ikimokyklinėse įstaigose ir ugdantys autizmo spektro sutrikimų turinčius vaikus. Pusiau struktūruoto interviu metodu atliktas tyrimas, kuriuo buvo norima nustatyti augmentinės ir alternatyvios komunikacijos taikymo ypatymus, ugdant ikimokyklinio amžiaus vaikus, turinčius autizmo spektro sutrikimų. Atlikus tyrimą paaiškėjo, jog vaikai, turintys autizmo spektro sutrikimų nesupranta komunikavimo paskirties, nenaudoja kalbos bendravimui. Autizmo spektro sutrikimų turintys vaikai geba bendrauti verbaliai arba neverbaliai. Dažniau pasireiškia neverbalus bendravimas naudojant simbolius, gestus, mimiką. Šių vaikų komunikacinių ir bendravimo gebėjimų ugdymui naudojama augmentinė ir alternatyvioji komunikacija. Pedagogai, mokydami vaikus augmentinės ir alternatyviosios komunikacijos dažniausiai naudoja vaizdines priemones. Pedagogai, dirbantys su autistiškais vaikais, jų komunikaciniams gebėjimams ugdyti derina tarpusavyje šias augmentinės ir alternatyviosios komunikacijos priemones: gestai; simboliai; gestai – simboliai; simboliai – daiktai; simboliai – kalba; gestas – kalba. Pedagogams didžiausių sunkumų taikant... [toliau žr. visą tekstą] / This bachelor’s work analyses augmentative and alternative communication use for pre-school age children with autism spectrum disorders. The goal is to determine how children that have autism spectrum disorders communicate, which augmentative and alternative communication means they use. The study was participated by 11 pedagogues (speech therapists, preceptors) which work in pre-school institutions and are working with children that have autism spectrum disorders. A study was done in a semi structured interview method to determine augmentative and alternative communication application peculiarities in developing pre-school age children that have autism spectrum disorders. The study showed that children with autism spectrum disorders do not understand communication purpose and they do not use speech to communicate. Children with autism spectrum disorder are able to interact verbally and nonverbally. More often reported use of nonverbal interaction which is being used through symbols, gestures, mimics. To develop those children ability to communicate and interact, augmentative and alternative communication is being used. Pedagogues that work with autistic children to develop a child’s communication abilities combine the use of these augmentative and alternative communication tools: gesture; symbols; gesture – symbols; symbols – objects; symbols – speech; gesture – speech. The biggest difficulty for pedagogues to apply augmentative and alternative communication is the negative... [to full text]

Induced pluripotent stem (iPS) cells generated from patients hold great promise for studying diseases that affect the central nervous system, as differentiation into the neuronal lineage creates a limitless supply of affected cells for disease study. Rett syndrome (RTT) is a neurodevelopmental autism spectrum disorder primarily caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene. Due to the inaccessibility of patient neurons, most of what is known about underlying phenotypes has been described using mouse models. iPS cells provide a potential solution, but reprogramming of patient cells is hampered by low efficiency, and early methods of identifying iPS cells involve transgenic techniques that are not translatable to human patient samples. The first part of this thesis describes the generation and characterization of a pluripotency reporter to address this issue. The EOS lentiviral reporter allows real-time observation of pluripotency changes during reprogramming, and is a useful tool for more efficient isolation of reprogrammed cell lines. Further, the EOS selection system can be used in a disease context to reproducibly mark and maintain disease-specific iPS cell lines for future use in disease modelling. Though iPS cells have been used to study RTT in vitro, extensive assessments of neuron function and electrophysiology have not yet been performed. In the second part of this thesis, iPS cell lines generated from a RTT mouse model were tested for their ability to model disease in vitro. Directed differentiation of multiple Mecp2-deficient and wild-type iPS cell lines to glutamatergic neurons revealed neurons that lack Mecp2 have a smaller soma size, diminished sodium currents, and are less excitable, firing fewer, prolonged action potentials that are smaller in magnitude. This deficiency in intrinsic excitability was accompanied by a dysfunction at excitatory glutamatergic synapses, which together recapitulate changes previously observed in the Mecp2-deficient mouse brain. Having accumulated counts and recordings from hundreds of neurons with consistent responses among lines, the iPS cell system is a representative model of the neuronal and synaptic defects in RTT. These results illustrate the requirement of MeCP2 in normal neuronal function, and suggest altered neuronal homeostasis or aberrant network circuitry may underlie RTT pathogenesis.

Thesis (Ph. D.)--West Virginia University, 2010. / Title from document title page. Document formatted into pages; contains x, 178 p. : ill. Vita. Includes abstract. Includes bibliographical references.

Introduction: Young people with high functioning autism spectrum disorders (HFASD) are particularly vulnerable to developing comorbid depression. It has been suggested that young people with HFASD and comorbid mental health difficulties are likely to experience difficulties during the transition to adulthood. This transition involves significant changes in both services and daily routine, something which people with HFASD often find difficult. Aims: This thesis includes two distinct pieces of work. A systematic review aiming to understand the prevalence of depression in children and young people with HFASD. A qualitative study aiming to explore transition to adulthood from the perspectives of young people with HFASD, who currently attend child and adolescent mental health services (CAMHS), and their families. Methods: For the systematic review, literature reporting the prevalence of depression in children and young people with HFASD was systematically searched and reviewed. For the qualitative study, data collection and analysis followed the principles of Interpretative Phenomenological Analysis (IPA). Four dyads of a young person with HFASD and a parent were interviewed. Results: The systematic review identified 18 studies which described results from 17 independent samples. The prevalence reported varied from 0% to 83%. This variation is most likely explained by methodological differences between studies. In the qualitative study, transition to adulthood was described as a process during which the young person is developing independence, while parents continue to have a role in providing support. Current and future support needs were perceived differently by the young people with HFASD than their parents, with the young people reporting less need for support. Conclusions: Further research is needed to better understand how to assess depression in this population, as well as the impact of age, gender, setting, medication use and other comorbidities. Transition is a time of uncertainty and change for young people, during which they become more independent of their families. Services need to consider the impact of these processes and young people’s perceptions about what it means to receive support.

Introdução: os transtornos do espectro autista (TEA) representam uma desordem comportamental complexa, com etiologias múltiplas e diferentes níveis de severidade. Indivíduos com TEA compreendem e expressam melhor a comunicação não verbal na presença da música. A musicoterapia improvisacional é uma das principais abordagens nesse campo para avaliar as habilidades de comunicação não verbal. Justificativa: a música se torna uma ferramenta relevante para avaliar a comunicação não verbal em pessoas com TEA, principalmente relacionada à musicoterapia improvisacional. No entanto, não há instrumentos de avaliação da musicoterapia improvisacional validados para esse fim. Objetivos: verificar os efeitos da improvisação musical em desfechos oriundos de ensaios controlados randomizados (ECRs) através de uma revisão sistemática. Ainda, traduzir e validar para uso no Brasil um instrumento específico de musicoterapia que avalia a comunicação de crianças com autismo: o Category System for Music Therapy (KAMUTHE). Metodologia: na revisão sistemática, foram analisados ECRs entre os anos de 1989 e 2011 a partir da busca em 13 bases de dados. A tradução e validação da KAMTUHE foi realizada através de um estudo transversal e analisou as propriedades psicométricas de validade de conteúdo, validade discriminante, validade convergente e concordância entre avaliadores. Resultados: a revisão sistemática verificou que 67% dos desfechos foram favoráveis a improvisação musical em comparação com a situação controle. No estudo de validação, as propriedades psicométricas apresentaram resultados satisfatórios. Conclusões: a revisão sistemática mostrou que a improvisação musical foi superior às intervenções controle. Entretanto, não foi possível verificar a dimensão desta intervenção pela ausência do cálculo da metanálise. As propriedades psicométricas encontradas no estudo de validação habilitam a versão brasileira do KAMUTHE para uso no Brasil. / Introduction: the autism spectrum disorders (ASD) represent a complex behavioral disorder with multiple etiologies and different levels of severity. Individuals with ASD understand and express better non-verbal communication in the presence of music. The improvisational music therapy is one of the main approaches in this field to assess the skills of non-verbal communication. Justification: the music becomes a relevant tool to assess non-verbal communication in people with ASD, mainly related to improvisational music therapy. However, here is no assessment instruments of improvisational music therapy validated for this purpose. Objectives: to assess the effects of musical improvisation on outcomes from randomized controlled trials (RCTs) through a systematic review. Moreover translate and validate for use in Brazil a specific music therapy assessment that evaluates the communication of children with autism: the Category System for Music Therapy (KAMUTHE). Methodology: in the systematic review, it were analyzed RCTs between the years 1989 and 2011 from the search in 13 databases. The translation and validation of KAMTUHE was performed using a cross-sectional study examined the psychometric properties of content validity, discriminant validity, convergent validity and inter-rater agreement. Results: the systematic review found that 67% of the outcomes were favorable musical improvisation in comparison with the control situation. In the validation study, the psychometric properties showed satisfactory results. Conclusions: The systematic review demonstrated that musical improvisation was superior to control interventions. However, it was not possible to verify the dimension of this intervention by the absence of the meta-analysis estimate. Psychometric properties found in the validation study enable the Brazilian version of KAMUTHE for use in Brazil.

The questionnaire DACH was created within the pilot survey of the dissertation project of PhDr. Kateřina Thorová, Ph.D. Since it was put into practice, the questionnaire has become a relatively common tool used in the diagnosis of Autism Spectrum Disorders. The theoretical section of my dissertation introduces the reader to the wider context of Autism Spectrum Disorders - from ethiology to treatment (therapy). The empirical section then focuses on editing, validation and standardization of the DACH questionnaire created by Thorová. Empirical testing of the DACH was conducted on a sample of 240 people. Statistical analysis of the collected data demonstrated a relatively high level of reliability, sensitivity and specificity of the method, along with a high predictive value of positive results. The correlation between the questionnaire results and the results of the diagnostic assessment with the use of the methods of the "golden standard" for autism was lower, but can be considered as satisfactory. The main goal of my dissertation is to develop a standardized Czech method for screening early symptoms of autism in children. For wider access of the practical applications of this project, an electronic version of the DACH questionnaire is available, including scoring and general recommendations. The...

Introdução: os transtornos do espectro autista (TEA) representam uma desordem comportamental complexa, com etiologias múltiplas e diferentes níveis de severidade. Indivíduos com TEA compreendem e expressam melhor a comunicação não verbal na presença da música. A musicoterapia improvisacional é uma das principais abordagens nesse campo para avaliar as habilidades de comunicação não verbal. Justificativa: a música se torna uma ferramenta relevante para avaliar a comunicação não verbal em pessoas com TEA, principalmente relacionada à musicoterapia improvisacional. No entanto, não há instrumentos de avaliação da musicoterapia improvisacional validados para esse fim. Objetivos: verificar os efeitos da improvisação musical em desfechos oriundos de ensaios controlados randomizados (ECRs) através de uma revisão sistemática. Ainda, traduzir e validar para uso no Brasil um instrumento específico de musicoterapia que avalia a comunicação de crianças com autismo: o Category System for Music Therapy (KAMUTHE). Metodologia: na revisão sistemática, foram analisados ECRs entre os anos de 1989 e 2011 a partir da busca em 13 bases de dados. A tradução e validação da KAMTUHE foi realizada através de um estudo transversal e analisou as propriedades psicométricas de validade de conteúdo, validade discriminante, validade convergente e concordância entre avaliadores. Resultados: a revisão sistemática verificou que 67% dos desfechos foram favoráveis a improvisação musical em comparação com a situação controle. No estudo de validação, as propriedades psicométricas apresentaram resultados satisfatórios. Conclusões: a revisão sistemática mostrou que a improvisação musical foi superior às intervenções controle. Entretanto, não foi possível verificar a dimensão desta intervenção pela ausência do cálculo da metanálise. As propriedades psicométricas encontradas no estudo de validação habilitam a versão brasileira do KAMUTHE para uso no Brasil. / Introduction: the autism spectrum disorders (ASD) represent a complex behavioral disorder with multiple etiologies and different levels of severity. Individuals with ASD understand and express better non-verbal communication in the presence of music. The improvisational music therapy is one of the main approaches in this field to assess the skills of non-verbal communication. Justification: the music becomes a relevant tool to assess non-verbal communication in people with ASD, mainly related to improvisational music therapy. However, here is no assessment instruments of improvisational music therapy validated for this purpose. Objectives: to assess the effects of musical improvisation on outcomes from randomized controlled trials (RCTs) through a systematic review. Moreover translate and validate for use in Brazil a specific music therapy assessment that evaluates the communication of children with autism: the Category System for Music Therapy (KAMUTHE). Methodology: in the systematic review, it were analyzed RCTs between the years 1989 and 2011 from the search in 13 databases. The translation and validation of KAMTUHE was performed using a cross-sectional study examined the psychometric properties of content validity, discriminant validity, convergent validity and inter-rater agreement. Results: the systematic review found that 67% of the outcomes were favorable musical improvisation in comparison with the control situation. In the validation study, the psychometric properties showed satisfactory results. Conclusions: The systematic review demonstrated that musical improvisation was superior to control interventions. However, it was not possible to verify the dimension of this intervention by the absence of the meta-analysis estimate. Psychometric properties found in the validation study enable the Brazilian version of KAMUTHE for use in Brazil.