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.

Orientador: Adriana Lia Friszman de Laplane / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-25T04:57:03Z (GMT). No. of bitstreams: 1 Teixeira_DanielleElisaParadella_M.pdf: 1290712 bytes, checksum: 7be16f8216fe1ab4848f9be8d44337a5 (MD5) Previous issue date: 2014 / Resumo: O transtorno do espectro autista envolve déficits sociais e de comunicação e interesses fixados e comportamentos repetitivos. A família da criança com autismo vivencia um processo de adaptação no qual, planos e expectativas devem ser revistos e adequados às condições de desenvolvimento da criança. O presente estudo teve como o objetivo conhecer a forma como as mães de crianças com autismo percebem o desenvolvimento da criança nos aspectos de interação, comunicação, comportamento e educação e o que esperam desse processo. As participantes foram mães das crianças com diagnóstico de autismo que são atendidas em grupo por equipe interdisciplinar semanalmente. Os dados foram coletados no período de setembro de 2012 a março de 2013, através da realização de entrevistas individuais com cada mãe, no momento em que a criança estava em atendimento numa instituição de reabilitação pertencente à Unicamp, Campinas. As entrevistas foram gravadas em um aparelho de áudio. As informações obtidas foram transcritas, analisadas utilizando-se a técnica de Análise de Conteúdo e categorizadas da seguinte forma: Dinâmica familiar; Sentimentos maternos; Percepções e expectativas maternas. Os depoimentos revelaram que as mães apresentam variadas expectativas para a criança, que vão sendo adaptadas conforme a percepção sobre o desenvolvimento. A similaridade encontrada entre as vivências, percepções e expectativas das mães entrevistadas e as referidas na literatura em relação a crianças com outras dificuldades ou com desenvolvimento típico permitem relativizar e colocar em questão a presunção de que as famílias com filhos com autismo apresentam características especiais ou específicas. Ao mesmo tempo, os relatos evidenciam a necessidade de suporte e apoio à família para que esta enfrente o desafio de promover e acompanhar o desenvolvimento da criança / Abstract: The autistic spectrum disorder involves social, communication and repetitive behaviors and interests set deficits. The autistic child's family experiences a process of adaptation in which, plans and expectations must be reviewed and adequate to the child's developmental conditions. The purpose of this study was to understand how mothers of children with autism perceive the child's development in concerning aspects as interaction, communication, behavior and education and what are their expectations towards these processes. Participants were mothers of children diagnosed with autism who attend a weekly group in a institution of rehabilitation at Unicamp, Campinas. Data were collected from September 2012 to march 2013, by means of individual interviews conducted with each mother at the time the child was in attendance at the institution. The interviews were recorded on an audio device. The information obtained was transcribed and analyzed using the technique of content analysis and categorized as follows: Family dynamics; Maternal feelings, perceptions and maternal expectations. The statements revealed that mothers have varied expectations for the child, which will be tailored according to their perception of development. The similarity found between the experiences, perceptions and expectations of the interviewed mothers and those in the literature in relation to children with other difficulties or with typical development permit to relativize and to question the assumption that families with children with autism have special or specific features. At the same time, the reports highlight the need for family support so that it faces the challenge of promoting and monitoring the child's development / Mestrado / Interdisciplinaridade e Reabilitação / Mestra em Saúde, Interdisciplinaridade e Reabilitação

Title: Combat sport modifications for pupils with autistic spectrum disorder in elementary school curriculum. Objective: The goal of this thesis is to summarize and analyze available information regarding combat sports, role of combat sports in physical education on elementary school and autistic spectrum disorder. Knowledge from these areas should then be used for compiling a set of exercises that would modify the schooling of combat sports for pupils with autistic spectrum disorder in elementary school. Methods: Analysis method and critical research were used to compile information needed to explain the given phenomena. In the final part of the thesis, compiled data were summarized via the synthesis method. Results: After thorough research of available literature, author proposes basic principles and recommendation for the education of combat sport for pupils with ASD. Then a set of exercises was created, which contains specific modifications for each given exercise. These exercises are meant to be used in inclusive education of combat sports for pupils with ASD on elementary school. Keywords: combat sports, physical education, autistic spectrum disorder

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.

Dans la littérature actuelle, il existe peu d’études portant sur l’évolution des adultes présentant un Trouble du Spectre Autistique (TSA) associé à une Déficience Intellectuelle (DI). Toutefois, de manière générale, les données disponibles suggèrent que se sont les personnes les plus déficientes qui connaissent les changements les moins significatifs.Cette étude exploratoire et rétrospective concerne 7 sujets atteints d’autisme associé à une DI sévère. Sont retracés sur une période de trente ans leurs parcours de vie, leurs évolutions cliniques, leurs niveaux d’adaptation au quotidien, et ceci depuis l’âge de leurs 20 ans. Le recueil de données a été réalisé sur la base d’études des dossiers médico-éducatifs ainsi qu’à partir d’entretiens semi structurés menés auprès du personnel encadrant. Bien que nous n’ayons pas pu mettre en évidence de changement significatif concernant les profils cliniques, comportementaux et adaptatifs de ces sujets, certains d’entre eux ont connu des évolutions qualitatives comme une diminution de l’intensité de la symptomatologie ou de l’importance des troubles du comportement. Les résultats ont été discutés à la lumière des travaux actuels et critiqués au regard des limites méthodologiques. Des propositions de recherches sont formulées : suivi de la population actuelle ; mise en place d’un plan longitudinal prospectif concernant une cohorte représentative de personnes adultes autistes avec DI sur une longue période ; proposition de protocoles spécifiques d’apprentissage avec évaluation des effets de ce type de prise en charge. / So far few studies have focused on the evolution of adults with Autism Spectrum Disorder associated with Intellectual Disability. In existing literature the available data show that the persons with the severest intellectual disabilities present the least significant changes. The present study - both exploratory and retrospective - deals with 7 patients with autism associated with a severe intellectual disability. Over a 30-year period - after the age of 20 - their life course, their clinical evolutions, their adaptive daily skills were described. The data collection was based on the study of their medical and educational records as well as on semidirective interviews with the staff. Although no significant change concerning their clinical, behavioural and adaptive profile could be pointed out, some patients presented qualitative evolutions such as a decrease in the intensity of their symptomatology or in the importance of their behavioral disorders. The results were discussed taking into account recent studies; they were criticized considering the methodological limits of our study. Suggestions for future research are: the follow-up of the patients of our study; the setting up of a prospective longitudinal study concerning a representative cohort of adults with autism with intellectual disability over a long period of time; suggestions of specific learning protocols together with assessments of that type of interventions.

The diploma with title Preparing the teachers for the integration of the children with autistic spektrum disorders into regular primary school aims in its theoretical part acquaint the reader with the concept of autistic spectrum disorders, the classification and individual characteristics closer disorders. It provides an overview of suitable approaches, forms and methods of work with these children, educational opportunities and further aims at integration into mainstream schools. In its research section it aims to penetrate deeper into the issue of preparing teachers to integrate pupils with autism and a description of its subsequent course. Based on qualitative research methods, namely semi-structured interviews and document research presents a collection of opinions, attitudes, experiences, recommendations and advice on how to integrate teachers and school principals, as well as opinions and attitudes of teachers who don't have experience with integration. The results of the investigation could be a base for further research of a quantitative nature.

This diploma thesis deals with the issue of inclusion of children with autism in pre-school education. It describes the concept of autism and its specificities, which can be significantly manifested in the inclusion of children in joint education up to the age of six. It points to the potential pitfalls that can arise in education and training. It explains concepts related to autistic spectrum disorders and discusses in detail the triad of impairments and related issues based on expert opinions. The thesis also shows different approaches and proven procedures for working with children with autism not only in kindergarten, but also for practice in the family. It describes different cognitive styles and other specifics that may arise in connection with autistic spectrum disorders and have a major impact on the child and his surroundings. It also includes personal examples from practice that illustrate the complexity and diversity of working with children with autistic spectrum disorder in kindergarten. In the second part of this work a case study is described, which can also serve as an example of good practice. It describes the class attended by two boys with autism. Part of the case study and a description of the climate detection program in the classroom designed for preschool children. This is...

Submitted by Filipe dos Santos (fsantos@pucsp.br) on 2018-04-11T11:52:06Z No. of bitstreams: 1 Mariana Cavalcante Vieira.pdf: 1959831 bytes, checksum: 767450c706eb12b725c42a045cbb3802 (MD5) / Made available in DSpace on 2018-04-11T11:52:06Z (GMT). No. of bitstreams: 1 Mariana Cavalcante Vieira.pdf: 1959831 bytes, checksum: 767450c706eb12b725c42a045cbb3802 (MD5) Previous issue date: 2018-02-28 / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPES / Peer mediated interventions are used to increase social interactions of children in the Autistic Spectrum Disorder (ASD) with their peers by building the behavioral repertoire of the peers to act as intervention agents. Peer mediated interventions are considered the most empirically valid type of intervention for children with ASD and the best to increase social interactions between those children and their typically developing peers. However, those interventions are reaching inconsistent results in tests of generalization and maintenance of behaviors. The aim of the present study was to analyze the objectives, the methodological characteristics, the results, and the relation between some of the methodological characteristics and between those characteristics and the results of experimental researches about peer mediated interventions that had data of social interaction in the school settings. Forty-one studies were selected from three data bases (CAPES, PsycINFO e Science Direct), in the list of two reviews in the area - Chan et al. (2009) e Watkins et al. (2015) – and in the personal files of the researcher. Sixty-four variables were analyzed, organized in 15 groups: objectives, ASD participants, behavioral repertoire of the participants with ASD, peers, settings, strategies, training, tests, VD, measured behaviors, maintenance, generalization, social validity, integrity and results. The results were, in general, positive, although few studies contained integrity, social validity and maintenance tests. Inconsistencies in the results of the maintenance tests and the generalization tests were found. Studies that used Prompt and reinforce had better results than the ones that used Peer-initiation intervention. More research is needed in order to assure if the peer mediated interventions are reinforcement contingencies that really promotes increase of social interaction with peers / As intervenções mediadas por pares são usadas para aumentar interação social de crianças com TEA com seus pares através da construção do repertório comportamental dos pares para atuarem como agentes da intervenção. São apontadas como o tipo de intervenção mais empiricamente validado para crianças com TEA e as que melhor promovem aumento da interação social com pares; porém, tais intervenções estão alcançando resultados inconsistentes nos testes de generalização e manutenção. Pretendeu-se, com este estudo, analisar os objetivos, as características metodológicas, os resultados e a relação entre algumas das características metodológicas e entre tais características e resultados de pesquisas experimentais sobre intervenções mediadas por pares que apresentassem dados sobre interação social em ambiente escolar. Foram selecionados 41 estudos, coletados em três bases de dados (CAPES, PsycINFO e Science Direct), na lista de artigos de duas revisões da área - Chan et al. (2009) e Watkins et al. (2015) - e no arquivo pessoal da pesquisadora. Foram analisadas 64 variáveis, organizadas em 15 grupos: objetivos, participantes com TEA, repertório comportamental dos participantes com TEA, pares, settings, estratégia, treino, teste, VD, comportamentos medidos, manutenção, generalização, validade social, integridade e resultados. Os resultados foram, em geral, positivos, porém poucos estudos continham teste de integridade, de validade social e de de manutenção. Encontraram-se inconsistências nos resultados dos testes de manutenção e de generalização. Os estudos que usaram Dica e reforço obtiveram resultado ligeiramente superior aos da Intervenção de iniciação por pares. São necessárias mais pesquisas para se afirmar se as intervenções mediadas por pares são contingências de reforço promissoras para promover aumento da interação social com seus pares