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The thesis presents a series of papers exploring catatonic symptoms and circadian rest-activity levels in autistic spectrum disorders (ASD). The thesis is presented in paper-based format and encompasses a literature review, an empirical paper and a critical appraisal. Paper 1 is a systematic review of available treatments for autistic catatonia. Catatonic symptoms are thought to occur in around 8% of young people with ASD, and it has been suggested that biological timing abnormalities may play a key role in the development of these difficulties. Twenty two papers were included in the final review, detailing treatment of a total of 28 cases of autistic catatonia. Both adult and paediatric cases were included. The range of treatments described encompassed electroconvulsive therapy, various psychotropic medications, behavioural and sensory therapies. The review highlights limitations in the available literature and suggests avenues for future research. Paper 2 explores circadian patterns in activity using actigraphy. A case series of 8 young people with an ASD diagnosis were recruited from specialist schools and asked to wear an actigraph for one week. Parents completed questionnaire measures of ASD traits and symptoms of autistic catatonia. Findings indicated a high degree of variability in circadian rest-activity cycles, both between participants and across the week. The study findings have implications for future research into circadian rest-activity levels in this population, as well as possible therapeutic applications. The final paper in the thesis presents a critical appraisal of the research, including discussion of strengths and limitations of the work, theoretical and clinical implications and directions for future research. Some personal reflections on the process of conducting the research are also included.

Peut-on dissocier perception et mémoire auditives ? Intuitivement, il paraît impossible de mémoriser quelque chose que l’on n’a pas perçu. Pourtant, il existe des phénomènes auditifs pour lesquels la mémoire influence la perception. L’objectif de ce travail de thèse est de déterminer si la perception auditive et la mémoire auditive sont deux fonctions dissociables, sous-tendues par deux mécanismes différents. Deux études utilisant des stimuli auditifs différents (des bruits périodiques, et du rehaussement) ont été réalisées. Une population d’enfants et d’adultes autistes de haut niveau a été inclue aux participants. En effet, ces derniers présentent des particularités dans le traitement auditif. Ces particularités peuvent être interprétées à la lumière de capacités perceptives et/ou mnésiques, sans que rien ne permette de déterminer si l’une, l’autre ou les deux fonctions cognitives que sont la perception et la mémoire, sont impliquées. Les résultats conjugués de ces deux études indiquent que les participants porteurs d’autisme présentent un déficit développemental dans le traitement de la complexité temporelle quand leur mémoire auditive est préservée. Deux mécanismes différents semblent régir les deux grandes fonctions cognitives que sont la perception auditive et la mémoire auditive, qui seraient donc dissociées. / Can we separate auditory perception and auditory memory ? Intuitively, it seems impossible to remember something that was not perceived. However, there are auditory phenomena for which memory influences perception. The objective of this work is to determine whether the auditory perception and auditory memory are two separable functions, underpinned by two different mechanisms. Two studies using different auditory stimuli (periodic noise, and enhancement) were performed. A population of children and adults with high functioning autism was included. Indeed, they have features in auditory processing. These features can be interpreted in the light of perceptual and / or memory capacity without anything possible to determine whether one or the other or both cognitive functions such as perception and memory, are involved. The combined results of these two studies indicate that the participants with autism have a developmental deficit in processing temporal complexity when their auditory memory is preserved. Two different mechanisms seem to govern the two major cognitive functions such as auditory perception and auditory memory, which would therefore be separated.

Syftet med denna studie är att utifrån några pedagogers beskrivningar bidra med kunskap om undervisning i läsförståelse för elever med intellektuell funktionsnedsättning och autismspektrumtillstånd i grundsärskolans årskurser 7-9 och på gymnasiesärskolans nationella program. Studien bygger på kvalitativa, semistrukturerade intervjuer med sex pedagoger verksamma inom grundsärskolan och gymnasiesärskolan och som undervisar i ämnet svenska. Resultaten analyseras utifrån begrepp hämtade från sociokulturell teori, nämligen fysiska och intellektuella redskap, den proximala utvecklingszonen samt scaffolding/ kommunikativa stöttor. Resultatet visar att pedagogerna ser läsförståelseförmågan som en grund för elevernas möjligheter till självständighet och delaktighet i samhället. Undervisning i läsförståelse ses som avgörande för elevernas läsförståelseutveckling. Skolans ansvar att tillgodose undervisning utifrån elevernas individuella behov och förutsättningar betonas. Organiseringen av undervisning utifrån elevernas individuella behov innebär att olika undervisningsmetoder, hjälpmedel och elevgrupperingsmetoder används. Lärarens aktiva roll, engagemang och förtrogenhet med olika metoder ses som grundläggande för framgångsrik undervisning. En gemensam uppfattning är att fortlöpande, intensiv och repetitiv undervisning ger bäst resultat. Pedagogerna i grundsärskolan och på gymnasiesärskolans individuella program uttrycker att tillgängliga tids- och personalresurser möjliggör en sådan undervisning, medan pedagogerna på gymnasiesärskolans nationella program menar att den schemalagda undervisningen i svenska är otillräcklig för att tillgodose fortlöpande undervisning. Baserat på det beskrivna behovet av fortlöpande, intensiv och repetitiv undervisning i läsförståelse, diskuteras i resultatdiskussionen om tidsresurserna är tillräckliga i aktuella elevgrupper på gymnasiesärskolans nationella program för en hållbar läsutveckling. Om man vidhåller att god läsförståelse är en grundläggande förutsättning för fullt deltagande i det moderna svenska samhället och att syftet med utbildning är att förbereda eleverna för ett ansvarsfullt liv i samhället, så är min mening att undervisning i läsförståelse i hög grad bör prioriteras inom såväl grundsärskolan som gymnasiesärskolan. / The purpose of this study – based on the accounts of qualified teachers – is to add to our understanding of teaching reading comprehension to pupils with intellectual disabilities and autistic spectrum disorders in Compulsory Schools for children with learning impairments grades 7-9 and those undergoing the Upper Secondary School national curriculum for pupils with learning disabilities. The study builds on qualitative, semi-structured interviews with six educators, all active within either Compulsory Schools for children with learning impairments or Upper Secondary Schools for pupils with learning disabilities, and all of  them Swedish language teachers. The results are analyzed on the basis of terms used in socio-cultural theory, namely physical and intellectual tools, the proximal development zone and ‘scaffolding’ (communicative supports). Results show that teachers see the ability of children to read and understand as fundamental to their prospects of becoming free individuals able to participate in society. Teaching pupils reading comprehension is viewed as pivotal to their ability to progressively understand what they read. Emphasis is laid on the responsibility of schools to provide education based on assessing the needs of each individual child. The organization of teaching structured around pupils’ individual needs means that a range of methods, aids and pupil groups is used.  The active role and personal involvement of the teacher along with his/her familiarity with a broad range of methods is seen as fundamental to successful teaching. The prevailing view is that on-going, thorough and repetitive teaching produces the best results. Teachers in Compulsory Schools for children with learning impairments along with those in Upper Secondary Schools running individual programs for pupils with learning disabilities assert that available resources in the form of time and staff make this kind of teaching achievable, while teachers in Upper Secondary Schools running national programs maintain that timetabled lessons in Swedish are insufficient to provide progressive teaching. Based on the need for on-going and repetitive teaching in reading comprehension as described above, I discuss if the time allotted to present pupil groups in Upper Secondary Schools’ national programmes is adequate for tenable reading comprehension teaching. If we maintain that good reading comprehension is a fundamental requisite for full participation in modern Swedish society and that the goal of this education is to prepare pupils for a responsible life in society, it is my opinion that teaching in reading comprehension should be given high priority in both Compulsory Schools for children with learning impairments and Upper Secondary Schools for pupils with learning disabilities.

O autismo é um transtorno do desenvolvimento com características que prejudicam o funcionamento diário da pessoa que recebe esse diagnóstico. As alterações sociais e de linguagem representam um dos seus distúrbios mais importantes. Considerando os estudos sobre Transtorno do Espectro Autista e a correlação entre linguagem oral e o domínio da leitura e escrita, a interação entre fonoaudiólogo e psicopedagogo é de suma importância, pontuando um elemento indispensável para obtenção de melhores resultados. A maneira de ensinar alunos com Transtorno do Espectro Autista é particularmente específica sendo importante o trabalho interdisciplinar entre escola e terapia. Tendo em vista o exposto, o objetivo desta pesquisa foi descrever o processo de adaptação escolar de gêmeos autistas do ensino infantil ao fundamental, em equipe interdisciplinar. Trata-se de um estudo de caso retrospectivo instrumental e fizeram parte da pesquisa duas crianças gemelares monozigóticas do sexo masculino que, na ocasião do início da coleta de dados, tinham 5 anos e cursavam salas de educação infantil de uma escola privada de ensino regular. Parte da pesquisa foi desenvolvida na escola privada de ensino regular, sendo três fontes de obtenção de dados 1) dados psicopedagógicos; 2) dados fonoaudiológicos; 3) dados da escola. A coleta e análise de dados foram realizadas a partir das avaliações psicopedagógicas, avaliações fonoaudiológicas e dos relatos dos professores com o propósito de intervir quanto à necessidade de adaptações de estratégias pedagógicas realizadas pela pesquisadora durante todo o período. Os resultados foram separados ano a ano e mostram que o trabalho interdisciplinar entre escola, fonoaudióloga e psicopedagoga atuando em conjunto e compartilhando conhecimentos teóricos e práticos resultou no melhor aproveitamento e desenvolvimento dos participantes. Dessa maneira, o trabalho interdisciplinar e a inclusão escolar não são tarefas fáceis, mas são absolutamente possíveis e importantes para que a criança com Transtorno do Espectro Autista esteja inserida no âmbito escolar e social, melhorando em todos os aspectos do desenvolvimento. / Autism is a disorder with features that interfere in autistic people\'s lives. Social and verbal communication changes are the most important disorders. Considering previous researches about autism and the correlation between verbal communication and reading and writing skills, the importance of the interaction between a phonoaudiologist and an educational psychologist is showed. Teaching autistic students demands a specific approach that considers school and therapy interaction as essential. The objective of this study was to describe the adaptation process of twin boys from kindergarten to elementary school through an interdisciplinary team work. It is an instrumental retrospective case study about monozygotic male twins. They were three years old and they were studying at a private regular education school in the beginning of this study. Part of the research was developed at the private regular education school using three data sources: 1) educational psychological data; 2) phonoaudiological data; 3) data from school. All the data was obtained and analyzed from educational psychological and phonoaudiological evaluations and teachers opinions aiming to adapt teaching strategies used by the researcher during the whole period. The results were separated year by year and showed that interdisciplinary work was better to the participants in terms of development. In conclusion, interdisciplinary work and school inclusion are not easy tasks but they are achievable and important, so that autistic children can be part of society and for their global development.

Darbe atlikta teorinė vaikų, pasižyminčių autizmo spektro sutrikimais, pažinimo ir ugdymo, aplinkos vaidmens jų ugdyme, pagalbos tėvams, specialistų pasirengimo dirbti bei specialistų ir šeimų bendradarbiavimo analizė, kuri leido susisteminti duomenis ir išskirti pagrindinius aspektus, lemiančius šių vaikų ikimokyklinį ugdymą. Magistro darbo tyrimo objektas – ikimokyklinio amžiaus vaikų, pasižyminčių autizmu, pažinimas, remiantis specialistų ir tėvų vertinimais; tyrimo tikslas – atskleisti ikimokyklinio amžiaus vaikų, turinčių autizmo sutrikimą, pažinimo galimybes, remiantis specialistų ir tėvų vertinimais bei specialistų profesiniu pasirengimu. Tyrimas atliktas kokybinio tyrimo metodu, taikant trianguliacijos principą – duomenys apie tyrimo objektą buvo renkami iš įvairių informacijos šaltinių. Anketinės apklausos tikslas – remiantis tėvų ir specialistų vertinimais išsiaiškinti vaikų, pasižyminčių autizmu, funkcionavimo ypatumus. Interviu metu, apklausiant specialistus-ekspertus, siekta išsiaiškinti esminius aspektus, susijusius su šių vaikų ugdymo ikimokykliniame amžiuje. Autizmu pasižyminčių vaikų elgesio vertinimas atliktas, taikant Funkcinio elgesio vertinimo skalę. Siekiant išsiaiškinti specialistų pasirengimą dirbti su ikimokyklinio amžiaus autizmu pasižyminčiais vaikais, atlikta antrinių duomenų analizė. Taikyti teoriniai (mokslinės literatūros, tyrimų, dokumentų analizė) ir empiriniai (klausimynai, lyginamoji duomenų analizė, antrinių duomenų analizė) metodai. Tyrime... [toliau žr. visą tekstą] / The paper performs a theoretical analysis of cognition and education of children with autistic spectrum disorders, role of environment in their education, assistance for parents, preparation of specialists for the work and collaboration between specialists and families, which allowed systematizing the data and highlighting the main aspects that determine education of such pre-school children. The subject of the Master Thesis - cognition of autistic pre-school children based on assessment of specialists and parents; the aim of the research - to reveal the possibilities of cognition of the autistic pre-school children based on assessment of specialists and parents and vocational preparation of the specialists. The research was performed by the method of qualitative research by applying the principle of triangulation - the data about the research subject were collected from various information sources. The aim of a questionnaire survey - to ascertain functional peculiarities of autistic children based on the assessments of parents and specialists. During the interview, when interviewing specialists-experts, we sought to clarify the essential aspects related to the education of such children in the preschool age. The assessment of autistic children behaviour was performed by applying a scale of functional behaviour. An analysis of secondary data was performed in pursuance of the ascertainment of the specialists' preparation for the work with autistic pre-school children. We... [to full text]

Orientador: Agnes Cristina Fett Conte / Banca: Carina Tatiana Giunco / Banca: Ana Elizabete Silva / Resumo: As Doenças do Espectro Autístico incluem o Autismo, o Transtorno Invasivo do Desenvolvimento Sem Outra Especificação e a Síndrome de Asperger. A etiologia é muito discutida, devido a sua variação e complexidade. São doenças que se manifestam nos três primeiros anos de vida, com uma variação clínica que inclui comportamento ritualístico, fala ausente ou pouco desenvolvida, além de problemas graves de relacionamento. Em 5 a 37 % dos casos são observadas em comorbidade com outras afecções. Em indivíduos com estas doenças já foram descritas alterações em todos os cromossomos e há genes propostos como candidatos de estarem envolvidos na etiopatogenia. Também, há relatos de casos com alterações subteloméricas, especialmente deleções, envolvendo as extremidades distais dos braços longos dos cromossomos 2 e 22. Mais recentemente foram observadas mutações no gene SHANK3, que está localizado em 22q13.3, na população com Doenças do Espectro Autístico. Este trabalho apresenta os resultados de um estudo citogenético e molecular realizado em 48 indivíduos com doenças do espectro autístico. Foram estudados o cariótipo por bandamento GTG convencional, as regiões 2q37 e 22q13 pela técnica de bandamento GTG em alta resolução, os éxons 8 e 22 do gene SHANK3 por seqüenciamento direto. A análise cariotípica convencional e dos éxons 8 e 22 revelaram resultados normais. A análise em alta resolução de um indivíduo mostrou resultado com possível deleção em 2q37, que não foi confirmada por técnica complementar. O número restrito de pacientes estudados deve ser considerado, porém pode ser sugerido que alterações em 2q37, 22q13 e dos éxons 8 e 22 do gene SHANK3, sejam eventos mais raros do que se supunha em Doenças do Espectro Autístico e sua investigação pode ser indicada na triagem de pacientes e para o aconselhamento genético... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: The autism spectrum disorders including autism, Pervasive Developmental Disorder Not Otherwise Specified and Asperger syndrome. The etiology is much debated due to its variation and complexity. These are disorders that are manifested in the first three years of life, with a clinical variant that includes ritualistic behavior, speech absent or poorly developed, in addition to serious relationship. In 5 to 37% of cases are observed in association with other diseases. In individuals with these diseases have been described changes in all chromosomes and genes are proposed as candidates to be involved in pathogenesis. Also, there are reports of cases with subtelomeric changes, especially deletions involving the distal ends of the long arms of chromosomes 2 and 22. More recently, mutations were observed in the gene SHANK3, which is located on 22q13.3, in the population with autism spectrum disorders. This paper presents the results of a cytogenetic and molecular study performed in 48 individuals with autistic spectrum disorders. We studied the karyotype by GTG conventional regions 2q37 and 22q13 by GTG banding technique in high resolution, the exons 8 and 22 SHANK3 gene by direct sequencing. The conventional karyotype analysis and exons 8 and 22 point normal results. The high resolution analysis of an individual with demonstrated results possible deletion in 2q37, which was not confirmed by complementary technique. The small number of patients should be considered, but may be suggested that changes in 2q37, 22q13 and exons 8 and 22 of the gene SHANK3, are more rare than previously thought on the autism spectrum disorders and their investigation may be indicated in screening of patients for genetic counseling of families is not justified. However, these investigations could be cited in this population when it is selected for the presence of dysmorphic features indicative of possible... (Complete abstract click electronic access below) / Mestre

O autismo é um transtorno do desenvolvimento com características que prejudicam o funcionamento diário da pessoa que recebe esse diagnóstico. As alterações sociais e de linguagem representam um dos seus distúrbios mais importantes. Considerando os estudos sobre Transtorno do Espectro Autista e a correlação entre linguagem oral e o domínio da leitura e escrita, a interação entre fonoaudiólogo e psicopedagogo é de suma importância, pontuando um elemento indispensável para obtenção de melhores resultados. A maneira de ensinar alunos com Transtorno do Espectro Autista é particularmente específica sendo importante o trabalho interdisciplinar entre escola e terapia. Tendo em vista o exposto, o objetivo desta pesquisa foi descrever o processo de adaptação escolar de gêmeos autistas do ensino infantil ao fundamental, em equipe interdisciplinar. Trata-se de um estudo de caso retrospectivo instrumental e fizeram parte da pesquisa duas crianças gemelares monozigóticas do sexo masculino que, na ocasião do início da coleta de dados, tinham 5 anos e cursavam salas de educação infantil de uma escola privada de ensino regular. Parte da pesquisa foi desenvolvida na escola privada de ensino regular, sendo três fontes de obtenção de dados 1) dados psicopedagógicos; 2) dados fonoaudiológicos; 3) dados da escola. A coleta e análise de dados foram realizadas a partir das avaliações psicopedagógicas, avaliações fonoaudiológicas e dos relatos dos professores com o propósito de intervir quanto à necessidade de adaptações de estratégias pedagógicas realizadas pela pesquisadora durante todo o período. Os resultados foram separados ano a ano e mostram que o trabalho interdisciplinar entre escola, fonoaudióloga e psicopedagoga atuando em conjunto e compartilhando conhecimentos teóricos e práticos resultou no melhor aproveitamento e desenvolvimento dos participantes. Dessa maneira, o trabalho interdisciplinar e a inclusão escolar não são tarefas fáceis, mas são absolutamente possíveis e importantes para que a criança com Transtorno do Espectro Autista esteja inserida no âmbito escolar e social, melhorando em todos os aspectos do desenvolvimento. / Autism is a disorder with features that interfere in autistic people\'s lives. Social and verbal communication changes are the most important disorders. Considering previous researches about autism and the correlation between verbal communication and reading and writing skills, the importance of the interaction between a phonoaudiologist and an educational psychologist is showed. Teaching autistic students demands a specific approach that considers school and therapy interaction as essential. The objective of this study was to describe the adaptation process of twin boys from kindergarten to elementary school through an interdisciplinary team work. It is an instrumental retrospective case study about monozygotic male twins. They were three years old and they were studying at a private regular education school in the beginning of this study. Part of the research was developed at the private regular education school using three data sources: 1) educational psychological data; 2) phonoaudiological data; 3) data from school. All the data was obtained and analyzed from educational psychological and phonoaudiological evaluations and teachers opinions aiming to adapt teaching strategies used by the researcher during the whole period. The results were separated year by year and showed that interdisciplinary work was better to the participants in terms of development. In conclusion, interdisciplinary work and school inclusion are not easy tasks but they are achievable and important, so that autistic children can be part of society and for their global development.

Made available in DSpace on 2016-03-15T19:41:14Z (GMT). No. of bitstreams: 1 Renata de Lima Velloso.pdf: 1203406 bytes, checksum: bd6f70f280924e3d77a921b7f2e7a1f3 (MD5) Previous issue date: 2012-02-02 / Fundo Mackenzie de Pesquisa / Autistic Spectrum Disorders (ASD) refer to important deficits in social interac-tion, in verbal and nonverbal communication, and in imaginative activities, which are replaced by repetitive and stereotyped behaviors. For several years, researchers have been proposing theories for explaining the primary deficit in the ASD, and cur-rently two theoretical approaches are preponderant: the developmental theory and the cognitive theory. This study has aimed at assessing abilities of language and of a theory of mind in children with ASD and in control children, with the application of the Strange Stories Test translated into Portuguese and adopted for Brazilian culture. Male children with ASD (28) and male control children (56) aged 6 to 12 years old took part in this study. The Brazilian version of the Strange Stories Test was applied following the same procedures to both experimental and control groups. Findings evidenced significant differences between mean scores of the groups in every of the 12 histories composing the test as well as in the sum of mean scores for all histories. Mean scores in all histories were significantly higher in the control group compared to the experimental group (children with ASD). Significant positive correlation was es-tablished between the estimated intelligence quotients and the sum of mean scores in the ASD group, and between the age and the sum of mean scores in the control group. Optimal internal consistence of the protocol was observed (0.955). Results were discussed under developmental and cognitive theories. It is concluded that the abilities of language and of a theory of mind assessed by the Strange Stories Test presented altered in children with ASD compared to children with typical develop-ment. / Os Transtornos do Espectro do Autismo (TEA) se caracterizam por prejuízos significativos na interação social, na comunicação verbal e não verbal e pela ausên-cia de atividades imaginativas, substituídas por comportamentos repetitivos e este-reotipados. Os pesquisadores vêm há muitos anos propondo teorias explicativas do prejuízo primário nos TEA, prevalecendo atualmente duas vertentes teóricas: a teo-ria desenvolvimentista e a teoria cognitivista. O objetivo deste estudo foi a avaliação de habilidades de linguagem e de Teoria da Mente em indivíduos com TEA e indiví-duos-controle, com a aplicação do teste Strange Stories, traduzido e adaptado para a Língua portuguesa. Participaram do estudo 28 crianças com TEA e 56 crianças-controle, todas do sexo masculino e na faixa etária entre seis e 12 anos. A versão brasileira do teste Strange Stories foi aplicada, seguindo os mesmos procedimentos, tanto ao grupo experimental quanto ao grupo-controle. Os resultados indicaram dife-renças significativas entre os escores médios dos grupos experimental e controle em cada uma das 12 histórias do teste e na soma dos escores de todas as histórias. Os escores médios registrados para todas as histórias foram significativamente maiores no grupo-controle do que no grupo experimental (crianças com TEA). Observou-se correlação positiva entre quociente de inteligência e soma dos escores médios para o grupo experimental, e correlação positiva entre idade e soma dos escores médios para o grupo-controle. Observou-se ótima consistência interna do protocolo. Os re-sultados foram discutidos sob a perspectiva cognitivista e desenvolvimentista. Con-cluiu-se que as habilidades de linguagem e de Teoria da Mente avaliadas pelo teste Strange Stories se mostraram alteradas no grupo de crianças com TEA quando comparadas às crianças do grupo-controle.

This thesis focuses on the activities of the Special Education Centre, as provided to parents of children and pupils with autistic spectrum disorders in the region of Cheb, Czech Republic. The theoretical part summarizes - using the specialized literature available - basic information on the issue of autism, its complex assessment and diagnosing, and special education care with focus on the same. It specifies the forms of consulting services in the Czech Republic and the special education centre's services aimed at pupils with autistic spectrum disorders. The research part of the thesis contains the characteristics of the examined array and using a specific questionnaire, it collects information on the satisfaction of parents of pupils with autistic spectrum disorders with the special education centre's offer of services. It also analyses the degree of implementation of the individual strategies and maps out the possibilities of expanding the offer of special education care.