O Transtorno do Espectro do Autismo (TEA) compõe um universo amplo e complexo com dificuldades relacionadas às áreas do comportamento, da interação social e da comunicação. A falta de um marcador biológico exige que o diagnóstico aconteça por meio da observação clínica e, na maioria dos casos, se compõe como um desafio aos/às profissionais responsáveis em fazê-lo. As abordagens de atendimento mais comuns são: Treatment and Education of Autistic and Communication Handicapped Children (TEACCH), Applied Behavior Analysis (ABA) e Picture Exchange Communication System (PECS), baseadas em teorias behavioristas. Estes programas estão relacionados ao desenvolvimento de rotina, de habilidades para uso cotidiano e de estratégias de comunicação. No contexto da família, o transtorno exige uma reorganização e um planejamento baseado em torno do cuidado da pessoa com TEA. Frente a esta realidade a discussão da dignidade humana se compõe como uma reflexão necessária e, principalmente, relacionada aos direitos humanos, que se constitua como concreta. Assim sendo, a constituição da dignidade humana como imago Dei se estabelece na relação do ser humano com o Criador, com o humano e com o todo da criação. Também no âmbito dos direitos humanos, construídos historicamente, é possível discutir a dignidade humana enquanto processo constitutivo do ser humano através da convivência, da alteridade, do reconhecimento e da participação que pretende a visibilidade das pessoas em suas características específicas. Esta forma de entender a dignidade humana procura situá-la para além de um adereço e que de fato contribua para que se avance em práticas de políticas públicas. Desta maneira torna-se possível que os direitos relacionados ao atendimento socioeducacional às pessoas com TEA se transformem em ações reais. Destarte, compreendendo a análise do conteúdo das entrevistas realizadas com os/as familiares de pessoas com TEA, fica evidente que questões como atendimento socioeducacional adequado, profissionais dispostos/as ao cuidado e capacitados/as, e políticas públicas efetivas, se constituem como elementos imprescindíveis apontados pelos/as familiares para o desenvolvimento cotidiano da pessoa com TEA. / Autism Spectrum Disorder (ASD) makes up a broad and complex universe with difficulties related to the areas of behavior, of social interaction and of communication. The lack of a biological marker demands that the diagnostic take place through clinical observation and, in most cases, it presents a challenge to the professionals responsible for making the diagnosis. The most common treatment approaches are: Treatment and Education of Autistic and Communication Handicapped Children (TEACCH), Applied Behavior Analysis (ABA) and Picture Exchange Communication System (PECS), based on behaviorist theories. These programs are related to the development of routines, of skills for daily use and of communication strategies. In the context of the family, the disorder demands a reorganization and planning around the care of the person with ASD. Confronted with this reality the discussion of human dignity is set as a necessary reflection and mainly related to human rights which are constituted as concrete. Thus, the constitution of human dignity as imago Dei is established in the relation of the human being with the Creator, with the human and with all of creation. In the area of human rights, historically constituted, it is also possible to discuss human dignity as a constitutive process of the human being through communal interaction, through otherness, through recognition and participation which aims at the visibility of the people in their specific characteristics. This form of understanding human dignity seeks to situate it beyond a mere prop and aims at truly contributing to the advancement of practices in public policies. In this way it becomes possible for the rights related to the socio-educational treatment of persons with ASD to be transformed into real actions. Thus, understanding the analysis of the content of the interviews carried out with family members of persons with ASD, it becomes evident that issues such as: adequate socioeducational treatment; capacitated and willing professionals for care; and effective public policies constitute essential elements pointed out by the family members for the daily development of the person with ASD.

Autism is a lifelong neurodevelopmental disorder. The etiology of autism still remains unclear due to the heterogeneous and complex nature of the disorder, however synergistic actions between genetic components and environmental factors have been suggested. Acetaminophen (APAP) is one of the most popular over-the-counter drugs that possess antipyretic and analgesic effects. It is considered a relatively safe and effective within therapeutic doses. Recently, early exposure to APAP has been suggested to be one of the underlying cause of autism. Children are often prescribed APAP to lessen fever or irritability after vaccination during the first year, and APAP may adversely affect the normal brain development. In order to better understand the association with APAP and autism, we used an inbred mouse strain BTBR T+tf/J (BTBR). BTBR exhibits behavioral deficits that mimic the core behavioral deficits of human autism. In the study, investigated 1) if BTBR mice showed differences in thiol biochemistry and EAAT3 levels in brain compared with C57BL/6J (C57) mice, 2) if early exposure to APAP induced behavioral changes worsening the autistic phenotypes of BTBR in adolescence, and 3) if APAP exposure in neonatal mice induced possible toxicity at various doses. As a result, we observed that BTBR mice have significantly lower plasma sulfate levels and EAAT expression levels in the frontal cortex compared to C57 mice. Surprisingly, neonatal therapeutic dose of APAP administration did not induce behavioral changes in both C57 and BTBR in adolescence. However, we showed that a supratheraputic dose of APAP significantly elevated levels of oxidative stress marker in the brain. Overall, the results suggested that BTBR mice would be a useful mouse model to investigate effects of various environmental factors that have been associated with autism. In addition, early exposure to APAP at supratherapeutic doses may negatively affect normal brain development.

Autism Spectrum Disorder (ASD) is a heterogeneous group of neurodevelopmental disorders that affects about 1% of the worldwide population and has a strong genetic component. Stereotyped behavior and restricted interests, as well as problems of social interaction and communication characterize ASD. Moreover, in 10% of cases, ASD occurs as a secondary condition in addition to a syndrome, such as Phelan-McDermid syndrome (PMS), which is associated with a great clinical variability. Among genetic factors, copy number variations (CNVs) are one of the most important. However, the clinical significance of many CNVs remains nuclear and there is an underrepresentation of small CNVs associated with ASD in the literature. In this context, this project aimed to 1) characterize large and small CNVs in Brazilian patients with ASD using an array-CGH previously customized in our laboratory. 2) Clinically and genetically describe a cohort of Brazilian patients with PMS, as well as to determine the frequency of this syndrome among Brazilian patients with ASD and other neurodevelopmental disorders. In result, we 1) further validated the customized array-CGH, 2) provided additional evidence of association with ASD for 27 candidate genes, 3) described 15 CNVs never reported in the literature in association with this disorder, 4) presented evidence that around 70% of CNVs found in our cohort are not polymorphism of our population and 5) reinforced the idea of shared molecular pathways among different neurodevelopmental disorders. In addition, we described for the first time a Brazilian cohort of patients with PMS and contributed to the molecular and clinical characterization of this syndrome. We also provided additional evidence of genotype-phenotype association with regard to the presence of renal problems and speech status in patients with PMS and estimated the frequency of this syndrome among Brazilian patients with ASD and intellectual disability (syndromic or not). With these results, we hope to contribute to better understand the ASD and PMS etiology, especially in our population / O Transtorno do Espectro Autista (TEA) corresponde ao um grupo heterogêneo de alterações no neurodesenvolvimento que afeta cerca de 1% da população mundial e apresenta um forte componente genético. O TEA é caracterizado pela presença de comportamento estereotipado e interesses restritos, além de problemas de interação social e comunicação. Além disso, em 10% dos casos, o TEA ocorre como uma condição secundária somada a uma síndrome. Um exemplo é a síndrome de Phelan-McDermid (PMS), associada a uma grande variabilidade clínica. Dentre os fatores genéticos, as variações no número de cópias (CNVs) são um dos mais importantes. No entanto, o significado clínico de muitas CNVs permanece incerto, além de haver juma sub-representação de CNVs pequenas associadas ao TEA na literatura. Dentro deste contexto, este projeto teve como objetivos 1) caracterizar CNVs grandes e pequenas em pacientes brasileiros com TEA utilizando uma lâmina de array-CGH previamente customizada no Laboratório de Genética do Desenvolvimento - USP. 2) descrever clínica e geneticamente uma casuística de pacientes brasileiros com PMS, bem como determinar a frequência desta síndrome em pacientes com TEA e com outras alterações de neurodesenvolvimento. Como resultados, nós 1) validamos a lâmina customizada, 2) fornecemos evidencia adicional de associação com o TEA para 27 genes, 3) descrevemos 15 CNVs nunca reportadas em associação com o transtorno 4) apresentamos evidências de que cerca de 70% das CNVs encontradas em nossa coorte não são polimorfismo de nossa população e 5) reforçamos a ideia de vias moleculares compartilhadas entre diferentes alterações do neurodesenvolvimento. Além disso, descrevemos pela primeira vez uma casuística brasileira de pacientes com PMS e contribuímos para a síndrome. Fornecemos evidência adicional de associação genótipo-fenótipo no que diz respeito à presença de problemas renais e status de fala em pacientes com PMS e estimamos a frequência da síndrome entre pacientes brasileiros com TEA e com deficiência intelectual (sindrômica ou não). Com estes resultados, esperamos ter contribuído para o entendimento da etiologia tanto do TEA, quanto da PMS, sobretudo na nossa população

Les Troubles du Spectre de l’Autisme (TSA) représentent la deuxième pathologie neuro-développementale la plus fréquente chez l’enfant. Le handicap est présent tout au long de la vie et a des conséquences majeures sur le fonctionnement de la personne mais aussi sur l’entourage familial et notamment les parents. Comme souligné par le dernier Plan Autisme, il est urgent de développer les offres d’accompagnement des aidants familiaux. L’objectif de cette recherche est d’étudier l’ajustement et les besoins parentaux dans les Troubles du Spectre de l’Autisme en vue de développer un programme d’éducation thérapeutique et d’en mesurer son impact. Trois études ont été réalisées successivement à partir d’une méthodologie soit qualitative (Etude 1) soit quantitative (Etudes 2 et 3). Notre première étude a permis d’identifier les besoins des parents d’enfant avec un TSA par rapport à des parents tout-venants (N=162). Des cibles d’accompagnement ont été formulées à partir des besoins matériel, d’information, de guidance parentale et de soutien émotionnel rapportés majoritairement par les parents d’enfant avec un TSA. Notre seconde étude visait à étudier les déterminants de l’ajustement parental dans les TSA (N=115). Les variables liées au contexte étaient davantage associées à l’ajustement parental que les variables individuelles. Du point de vue contextuel, les caractéristiques de l’environnement familial et l’accès de l’enfant à une scolarisation semblent être des déterminants importants de l’ajustement. Du point de vue individuel la présence de comorbidités chez l’enfant et d’un phénotype autistique élargie chez le parent étaient associés à un moins bon ajustement parental. Enfin, notre troisième étude a permis de développer et d’évaluer l’impact du programme d’éducation thérapeutique ETAP auprès de parents d’enfant avec un TSA (N=40). Le programme comporte 7 séances collectives structurées. Une bonne acceptabilité ainsi que des améliorations significatives de la qualité de vie et de la symptomatologie dépressive ont été notées. En conclusion, les besoins et les difficultés d’ajustement relevés chez les parents confirment la nécessité d’accompagner, de façon plus systématique, les pères et les mères d’enfant avec un TSA. Dans une logique de prévention, il est primordial d’évaluer, de manière précoce et continue, les besoins d’accompagnement et la qualité de l’ajustement parental. Cette évaluation doit s’appuyer sur une vision globale de la situation parentale et intégrer des aspects individuels et contextuels. On retrouve ces éléments au sein du programme ETAP qui apparaît comme un dispositif prometteur pour accompagner les parents d’enfant avec un TSA. La proposition d’un modèle de compréhension de l’ajustement parental dans les TSA permet d’articuler les résultats des trois volets de cette recherche. / Autism Spectrum Disorders (ASD) are the second most common childhood neurodevelopmental disorder. Disability is present throughout life and has major implications for the individual functioning but also on the family environment, especially on parents. As highlighted by the last French Autism Plan, it is crucial to develop support programs for parents. The goal of this research is to study the adjustment and parental needs in ASD in order to develop and evaluate a therapeutic education program. Three studies were carried out successively using a qualitative method (Study 1) or quantitative method (Studies 2 and 3). The first study aimed at identifying needs in two groups: parents of children with ASD compared to parents of typically developing children (N = 162). Support targets were formulated from reported needs by parents with ASD child in the following areas: material, information, parental guidance and emotional support. Our second study considered the determinants of parental adjustment in ASD (N = 115). The contextual variables were more involved in parental adjustment than individual measures. From a contextual perspective, the characteristics of the family environment and children school access are important determinants of adjustment. From an individual perspective, comorbidities in children and a broader autism phenotype in parents were associated with lower parental adjustment. Finally, the last study developed and evaluated the impact of therapeutic education program to parents of children with ASD (N = 40). The program consists in seven group-structured sessions. Good acceptability as well as significant improvements in quality of life and depressive symptoms was noted. In conclusion, the parents’ needs and adjustment difficulties confirm the relevance to support fathers and mothers of children with ASD. From a prevention way, it is important to early and continually assess support needs and parental adjustment. This assessment should be based on a global vision of parental status and to consider individual and contextual aspects. These elements are present in the ETAP program, which appears as a promising device to support parents of children with ASD. A theoretical model of parental adjustment in ASD is proposed from the results of the three components of this research.

<p>  </p> <p><em>Syngap1+/-</em> is a mouse mode for intellectual disability and autism spectrum disorder where haploinsufficiency of the <em>Syngap1</em> gene and therefore downregulation of SynGAP1 leads to early maturation of synapses within the brain within post-natal days fourteen and sixteen instead of at the normal developmental schedule of post-natal day thirty. This early-shifted timeline falls directly before the visual critical where binocular matching between inputs from the two eyes occurs, and during a period where neurons become selective to specific orientations. High-level visual and cognitive issues observed in autism spectrum disorder patients might follow from deficits in basic sensory processing development, but it is not yet understand how <em>Syngap1</em> haploinsufficiency affects visual development and visual processing. Therefore, to characterize visual processing within the <em>Syngap1+/-</em> mouse model of autism spectrum disorder, acute electrophysiological recordings were performed within the monocular and binocular regions of the mouse visual cortex (V1). Responses to a series of visual stimuli were analyzed to measure and compare receptive field size, orientation selectivity, and binocularity between <em>Syngap1+/-</em> mice and littermate controls. In order to understand how potential deficits in physiology could translate into visual perception, a behavioral training protocol was implemented which isolated visual acuity in mice. In accordance with known developmental timelines in the visual cortex, it was found that the receptive field sizes of V1 neurons in <em>Syngap1+/-</em> mice were unchanged from wild type controls. However, these same neurons had wider tuning curves and lower firing rates than neurons in littermate controls. Ocular dominance was unaltered between <em>Syngap1+/-</em> and wild type mice, but this was possibly due to low sample sizes of neurons from the binocular regions of V1. At the behavioral level, lower visual acuities were discovered in <em>Syngap1+/-</em> mice with a size degree difference compared to littermate controls – a minor but significant difference. These results indicate a reduction in SynGAP1 expression has a perceivable effect on V1 development and function at both physiological and behavioral levels.</p>

[pt] Estudar como ocorre o desenvolvimento da criança diagnosticada com Transtorno do Espectro Autista, em espaços que não sejam somente o da escola, nos faz pensar como esta constrói suas interações sociais e também pode exercer os seus direitos e liberdades fundamentais como sujeito com deficiência, visando sua inclusão social e cidadania. Assim, o objetivo deste estudo foi investigar os modos e frequência de participação das crianças no TEA em espaços urbanos de lazer como fator relevante para seu desenvolvimento cognitivo, emocional e social. Realizou-se um estudo qualitativo que envolveu a análise do discurso de 16 cuidadores de uma clínica de Neuroreabilitação, localizada no Rio de Janeiro. Os resultados revelaram que as interações entre pais/cuidadores e filhos autistas quando são mútuas e colaborativas, juntamente com estratégias parentais igualitárias, são favoráveis e capazes de conduzir a criança a pensar a respeito de suas atitudes, logo, podem incentivar a conduta pró-social da criança. O estudo concluiu que a interação e a convivência entre pais/cuidadores e a criança autista em outros espaços, que não seja somente o da escola. Mostrou-se importante, mas que ainda existem muitos obstáculos e limitações impostos em relação ao TEA, no que diz respeito às suas potencialidades, resistências e preconceitos. Entretanto, apesar dos desafios, as iniciativas e a dedicação representam um enorme passo para encontrar maneiras dessas crianças se apropriarem do conhecimento e possivelmente desenvolverem suas habilidades. / [en] Studying how the development of children diagnosed with Autism Spectrum Disorder occurs, in spaces that are not only the school, makes us think about how they build their social interactions and also how they can exercise their fundamental rights and freedoms as a subject with disabilities, aiming at their social inclusion and citizenship. Thus, the objective of this study was to investigate the participation of children with Autism Spectrum Disorder (ASD) in urban spaces, as a relevant factor for their cognitive, social and emotional development. A qualitative study was carried out that involved the analysis of the speech of 16 caregivers of a Neurorehabilitation clinic, located in Rio de Janeiro. The results revealed that interactions between parents/caregivers and autistic children, when they are mutual and collaborative, together with egalitarian parenting strategies, are favorable and capable of leading the child to think about their attitudes, therefore, they can encourage prosocial behavior. of child. The study concluded that the interaction and coexistence between parents/caregivers and the autistic child in other spaces, other than the school, proved to be important, but that there are still many obstacles and limitations imposed in relation to ASD, in terms of concerns its potentialities, resistances and prejudices. However, despite the challenges, the initiatives and dedication represent a huge step towards finding ways for these children to appropriate knowledge and possibly develop their skills.

Thesis(MEdPsych)--Stellenbosch University, 2012. / ENGLISH ABSTRACT: Autism or Autism Spectrum Disorder (ASD) is a condition that, at present, affects approximately one out of every 100 children globally and indications are that the prevalence thereof is steadily on the rise. ASD is a complex neurological condition that impairs social interaction, communication and behaviour. Research on the wide-ranging effects of ASD and its unique characteristics in each child with ASD is widely available. Several studies refer to the fact that ASD has an impact on the family unit, but very few researchers have investigated the support that families from different cultural groups in South Africa are enjoying whilst raising a child with autism. The current situation being what it is means that professionals and families have very little data on the subject and inadequate support is available to address the specific needs of families who are raising a child with autism. The aim of this study was to investigate the support structures of three families from three different cultural groups in South Africa who were raising a child with autism. The central issue that was researched was the support structures available to parents raising a child with autism, and how parents access that support. This is a qualitative study within an interpretive research paradigm. In this case study, the methods of data collection comprised semi-structured interviews, observations and reflective journals. This design embraced qualitative research methods that could expose the uniqueness of each family’s experience and allowed participants the freedom to express this. The three families, who were purposefully selected for this study, were from different cultural backgrounds. One of the children in each family met the criteria published in the Diagnostic and statistical manual of mental disorders, fourth edition, text revision (American Psychiatric Association, 2000) for Autism or Pervasive Developmental Disorder not Otherwise Specified (PDD-NOS). The study found that the parents in the three families received support from their spouses and the neuro-typical siblings. The families also enjoyed physical support, financial support and emotional support from different sources. Parents reported feeling supported when others show acceptance and understanding of their children’s deficits and when such others are prepared to ‘go the extra mile’. The three families also perceived information and guidance as a valuable source of support. Even though they had firm support structures in place, they also reported on the lack of support available to them. All three families enjoyed these forms of support, but it was interesting to find out that the families received the support from different sources. / AFRIKAANSE OPSOMMING: Outisme of outisme spektrum versteuring (OSV) is 'n toestand wat tans ongeveer een uit elke 100 kinders wêreldwyd affekteer en daar is aanduidings dat die voorkoms daarvan steeds toeneem. OSV is 'n komplekse neurologiese toestand wat swak sosiale interaksie, kommunikasie en gedrag tot gevolg het. Navorsingsresultate oor die breë gevolge van OSV en die unieke eienskappe daarvan in elke kind met OSV is algemeen beskikbaar. Verskeie studies verwys na die feit dat OSV 'n impak het op die gesinseenheid, maar tot dusver het baie min navorsers die ondersteuning ondersoek wat gesinne uit verskillende kulturele groepe in Suid-Afrika tydens die opvoeding van 'n kind met outisme geniet . Die huidige situasie voorsien professionele mense en gesinne van baie min data oor die onderwerp en onvoldoende ondersteuning is beskikbaar om die spesifieke behoeftes van gesinne met 'n kind met outisme aan te spreek. Die doel van hierdie studie was om ondersoek in te stel na die ondersteuning wat gesinne in verskillende kultuurgroepe in Suid-Afrika tydens die opvoeding van ‘n kind met outisme geniet. Die sentrale ondersoekvraag het betrekking gehad op ondersteuningstrukture vir gesinne met ‘n kind met outisme binne hul kultuurgroep, sowel as die wyse waarop die gesinne toegang tot die ondersteuning verkry. Die studie was kwalitatief van aard binne 'n interpretatiewe navorsingsparadigma en ’n gevallestudie is as navorsingsontwerp gekies. Data is deur middel van semi-gestruktureerde onderhoude, waarnemings en reflektiewe joernale ingesamel. Die kwalitatiewe navorsingsmetodes omvat die uniekheid van elke gesin se ervaring en laat deelnemers die vryheid om uitdrukking daaraan te gee. Drie gesinne is doelbewus vir hierdie studie gekies. Die gesinne moes oor die volgende kenmerke beskik: Hulle moes uit verskillende kulturele agtergronde (Afrikaan, Wit en Indiër) kom. Hul kind moes voldoen aan die kriteria in die Diagnostiese en Statistiese Handleiding van geestesversteurings, vierde uitgawe, teks hersiening (2000) vir Outisme of pervasieve ontwikkelingsstoornis nie anders gespesifiseer nie (PDD-NOS). Verskeie etiese beginsels is vir hierdie studie nagekom om te verseker dat die navorsing eties was. Die studie het bevind dat die ouers in die drie gesinne ondersteuning van hul gades en die neurotipiese broers en susters van die kind met outisme ontvang het. Die gesinne het ook fisiese ondersteuning, finansiële steun en emosionele ondersteuning vanuit verskillende bronne geniet. Die gesinne het aangedui dat hul ondersteun voel wanneer hul kinders se afwykings aanvaar word, begrip daarvoor getoon word en andere bereid was om die ‘ekstra myl te loop’. Die drie gesinne het ook inligting en leiding as waardevolle bronne van ondersteuning ervaar. Selfs al het die families sterk ondersteuningstrukture in plek gehad, het hulle ook die gebrek aan ondersteuning uitgelig. Al drie gesinne geniet die bogenoemde vorme van ondersteuning, maar dit was interessant om uit te vind dat die families hierdie ondersteuning vanuit verskillende bronne ontvang het.

Ce mémoire présente et discute d’une problématique importante qui s’inscrit dans un contexte actuel, autant sur le plan international que local, puisqu’elle touche 1 enfant sur 68 (CDC, 2010). On parle ici du trouble du spectre de l’autisme (TSA). Plus spécifiquement, cette recherche se concentre sur les jeunes adultes autistes, qui du jour au lendemain, se retrouvent face à une interruption de services. Elle suggère qu’une adaptation adéquate de l’environnement soit davantage explorée en vue d’offrir des centres de jour adaptés à cette clientèle. La question de recherche est la suivante : Quels sont les éléments du design intérieur qui peuvent améliorer la qualité de vie des adultes autistes? Il est essentiel de s’y attarder, puisque les personnes TSA sont entre autres caractérisées par leur hypersensibilité et leur hyposensibilité face à l’environnement. Bien que le sujet de l’autisme soit richement documenté par le domaine des sciences médicales, il est apparu qu’il l’est moins par celui de l’aménagement. La stratégie méthodologique de cette recherche repose sur des analyses de précédents, des observations participantes ainsi que la tenue d’entretiens semi-dirigés auprès de parents d’enfants autistes. Cette étude vise simultanément l’amélioration de la compréhension de la pratique émergente du design comme moyen d’intervention ainsi que l’identification des facteurs (éclairages, couleurs, matériaux, division de l’espace, etc.) pouvant améliorer le bien-être des adultes autistes. Sur la base des données collectées, il a été remarqué qu’effectivement, plusieurs moyens peuvent être entrepris pour concevoir des environnements améliorant le bien-être de ces adultes. Les résultats extraits du terrain mènent à des propositions d’aménagement claires : rendre l’abstrait le plus concret possible, aménager des zones de retrait social, offrir une variété d’ambiances, et finalement, offrir un encadrement sécuritaire. / This thesis presents and discusses an important issue that is part of a current context, both international and local level, since it affects 1 child in 68 (CDC, 2010). We are talking about the Autism spectrum disorder (ASD). More specifically, this research focuses on young autistic adults who suddenly find themselves facing a lack of services. It suggests that an adequate adaptation of the environment should be explored in order to provide adapted day Centers to this clientele. The question of the research is the following: What are the elements of interior design that can improve the quality of life of autistic adults? It is essential to linger over it, since ASD people are characterized by hypersensitivity and hyposensitivity to the environment. Even if the subject of autism is richly documented by medical science, it appeared that it is less studied by the interior architecture domain. The methodological strategy of this research is based on analysis of precedents, participant observation and the conducting semi-structured interviews with parents of autistic people. This study aims simultaneously to improve the understanding of the emerging practice of design as an intervention and the identification of factors (lightings, colors, materials, spatial organization) that could improve the wellbeing of autistics adults. Based on the data collected, it was noticed that, indeed, several means can be undertaken to design environments improving the well-being of adults. The results extracted from the field study lead us to clear layout proposals: making the abstract as concrete as possible, develop areas of social withdrawal, offer a variety of atmospheres, and finally provide a safe environment.

Submitted by Filipe dos Santos (fsantos@pucsp.br) on 2018-07-18T11:46:06Z No. of bitstreams: 1 Renata Cristina Michel.pdf: 1614274 bytes, checksum: e95f711d2385e57a6d1783ef14a0dfa6 (MD5) / Made available in DSpace on 2018-07-18T11:46:06Z (GMT). No. of bitstreams: 1 Renata Cristina Michel.pdf: 1614274 bytes, checksum: e95f711d2385e57a6d1783ef14a0dfa6 (MD5) Previous issue date: 2018-05-10 / Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - CAPES / Results from previous studies indicated that there was a reduction in the percentage of intervals with occurrence of disruptive behaviors after children with ASD were taught a verbal response relevant to the situation that evoked such behaviors; and there was an increase in the percentage of intervals with occurrence of relevant verbal responses (control). In the present study, we sought to verify the effect, on disruptive behaviors, on the emission of verbal responses and non-verbal responses, from a Functional Communication Training (FCT), plus a procedure to avoid escape of important activities by participants; it was also sought to verify if there was a generalization of the verbal response before a naive experimenter. Participants were three children between three and six years old, diagnosed with autism, who attended to school for at least one year, had verbal behavior below that expected for the age, and disruptive behaviors maintained by negative reinforcement (task escape). A functional analysis was performed composed of three experimental conditions: Demand; Attention; and Control. The results of the functional analysis showed that there was a considerably greater number of disruptive responses emitted by the three participants in the demand condition. In the Functional Communication Training (FCT) phase, each participant was taught to request a pause to perform tasks through verbal command responses. Initially, the participant was instructed to issue the verbal response, immediately after the presentation of the task, and gradually increased the time between the issuance of the experimenter's instruction ("Do ...") and the tip for verbal response by participant, until the verbal response was issued without any prompt. The results showed that the three participants presented a decrease in the emission of disruptive responses after the acquisition of the verbal response to request a pause to perform tasks. Then, in the Fading out phase for the task execution response and a gradual decrease of the prompt was implemented, from highest to lowest: DF - total physical hint, DL - light physical tip, DG - gestural tip and I - independent response. The results indicated that the three participants acquired the response for the task execution, reducing the emission of verbal pause requests for execution and maintaining a low number of disruptive responses. In the generalization test of the verbal response (mand) and the non-verbal response (do the task) to a naive experimenter, it was verified that for all the participants there was generalization of the verbal response and generalization of the nonverbal response / Resultados de estudos anteriores apontaram que houve redução da porcentagem dos intervalos com ocorrência de comportamentos disruptivos após crianças com TEA serem ensinadas a emitir resposta verbal relevante à situação que evocava tais comportamentos; e houve aumento da porcentagem dos intervalos com ocorrência de respostas verbais relevantes (mando). No presente estudo, buscou-se verificar o efeito, sobre comportamentos disruptivos, sobre a emissão de respostas verbais e de respostas não verbais, de um Treino de Comunicação Funcional (FCT), acrescido de um procedimento para evitar a esquiva de atividades importantes pelos participantes; buscou-se, também, verificar se ocorria generalização da emissão da resposta verbal diante de experimentadora ingênua. Foram participantes três crianças, entre três e seis anos de idade, diagnosticadas com autismo, que frequentavam escola há pelo menos um ano, apresentavam comportamento verbal abaixo do esperado para a idade e comportamentos disruptivos mantidos por reforçamento negativo (fuga da tarefa). Foi conduzida análise funcional composta de três condições experimentais: Condição de demanda; Condição de atenção; e Condição controle. Os resultados da análise funcional mostraram que houve um número consideravelmente maior de respostas disruptivas emitidos pelos três participantes na condição de demanda. Na fase do Treino de Comunicação Funcional (FCT), cada participante foi ensinado a solicitar pausa da execução de tarefas através de respostas verbais de mando. Inicialmente, era dada dica ao participante para emissão da resposta verbal, imediatamente após a apresentação da tarefa, e aumentava-se gradativamente o tempo entre a emissão da instrução da experimentadora (“Faça...”) e a dica para a resposta verbal pelo participante, até que a resposta verbal fosse emitida sem nenhuma dica. Os resultados mostraram que os três participantes apresentaram diminuição na emissão de respostas disruptivas após a aquisição da resposta verbal para solicitação de pausa para a execução de tarefas. Em seguida, na fase de Dica para a resposta de execução da tarefa e diminuição gradativa da dica (Fading-out), foi implementado um procedimento de alteração do nível de dica, da maior para a menor: DF - dica física total, DL – dica física leve, DG – dica gestual e I – resposta independente. Os resultados apontaram que os três participantes adquiriram a resposta de execução das tarefas, reduzindo a emissão de respostas verbais de solicitação de pausa para a sua execução e mantendo baixo número de emissão de respostas disruptivas. No teste de generalização da emissão de resposta verbal (mando) e do tempo de permanência na tarefa diante de uma experimentadora ingênua, verificou-se que, para todos os participantes, houve generalização da resposta verbal e generalização da resposta não verbal

Étant donné que le bilinguisme et le multilinguisme sont la norme plutôt que l’exception, plusieurs enfants, y inclus plusieurs enfants ayant un trouble du spectre de l’autisme (TSA) sont élevés dans des contextes bilingues. Cependant, il y a actuellement peu de recherche examinant le développement langagier d’enfants ayant été exposés à deux langues, de la petite enfance à l’âge scolaire. Cette thèse a pour objectif d’examiner l’influence du bilinguisme sur le développement d’habiletés langagières d’enfants bilingues ayant un développement neurotypique à l’âge scolaire, ainsi que chez leurs pairs ayant un TSA. Cet objectif est atteint par l’entremise de trois manuscrits. Le premier manuscrit est une revue de la littérature dans le cadre de laquelle nous avons examiné le développement langagier d’enfants bilingues ayant un DN d’enfants ayant d’autres troubles de développement et finalement d’enfants ayant un TSA. Cette revue révéla que, tout comme leurs pairs ayant un DN, les enfants ayant un TSA peuvent devenir des locuteurs bilingues, et que le bilinguisme n’est pas néfaste à leur développement langagier. Cependant, certaines limites dans la littérature existante ont aussi été révélées. Dans un premier temps, la majorité des études publiées ont examiné les habiletés langagières d’enfants bilingues d’âge préscolaire. Toutefois, peu d’études ont examiné leur développement langagier une fois qu’ils atteignent l’âge scolaire, et ce, tant chez les enfants ayant un DN que chez les enfants ayant un TSA. Par ailleurs, peu d’études ont comparé les capacités langagières d’enfants ayant un TSA à celles de leurs pairs bilingues ayant un DN et aucune étude n’a comparé leurs capacités langagières à celles de leurs pairs unilingues ayant un DN. Les résultats qui découlent de cette revue ont menés à deux études expérimentales examinant l’influence du bilinguisme sur le développement langagier chez les enfants d’âge scolaire ayant un DN, ainsi que chez leurs pairs ayant un TSA. Notre revue de littérature suggère que l’exposition langagière pourrait jouer un rôle déterminant vis-à-vis les capacités langagières d’enfants bilingues. Le second manuscrit a donc comme objectif d’examiner la relation entre le développement langagier d’enfants étant des bilingues simultanés (exposés à leurs deux langues avant l’âge de trois ans) d’âge scolaire, et la quantité d’exposition langagière reçue dans chacune de leurs langues (le français et l’anglais). Globalement, nos résultats ont démontré une interaction entre la quantité d’exposition à l’anglais et la performance sur certaines mesures de langage expressif, mais pas avec les mesures de langage réceptif en anglais. En français, aucune interaction entre la quantité d’exposition au français et les performances sur les différentes mesures langagières n’a été trouvée. Ces différences sont potentiellement dues à des différences dans les montants d’exposition au français et à l’anglais, mais d’autres explications sont aussi discutées. De plus, les résultats suggèrent qu’en ayant approximativement 20% de leur exposition à une langue, ces enfants bilingues peuvent obtenir des scores dans la tranche moyenne sur toutes les mesures langagières. Par ailleurs, les enfants qui se servent de leurs deux langues tous les jours semblent nécessiter un moins grand pourcentage d’exposition pour développer des capacités langagières dans la moyenne. Ces résultats pourraient être expliqués par le transfert positif et une amélioration des capacités métalinguistiques plus généralement. Ce type d’amélioration pourrait permettre aux enfants qui se servent de leurs deux langues tous les jours de développer de meilleures capacités d’acquisition langagière. Les résultats de la revue de littérature ont aussi démontré que peu est connu en ce qui a trait aux capacités langagières d’enfants bilingues ayant un TSA lorsqu’ils atteignent l’âge scolaire. Conséquemment, pour le troisième manuscrit j’ai complété une étude pilote ayant comme objectif d’examiner si trois enfants bilingues simultanés d’âge scolaire et ayant un TSA (sans trouble de langage ou de déficiences intellectuelles) pouvaient atteindre des niveaux d’habiletés langagières semblables à celles de leurs pairs unilingues ayant un TSA. J’ai aussi cherché à savoir si ces trois enfants bilingues ayant un TSA pouvaient atteindre des seuils langagiers semblables à ceux de 19 pairs bilingues et 12 pairs unilingues ayant tous un DN. Les résultats ont démontré que ces bilingues simultanés ayant un TSA ont eu des performances semblables à celles de leurs pairs unilingues ayant un TSA sur des mesures langagières normées. Ils ont aussi eu des performances semblables à celles de leurs pairs bilingues et unilingues ayant un DN. L’ensemble de ces résultats démontrent que les enfants bilingues simultanés d’âge scolaire avec et sans TSA peuvent atteindre des niveaux d’habiletés langagières semblables à ceux de leurs pairs unilingues, du moins, dans une de leurs langues, sinon dans les deux. Bien que les bilingues ne sont pas deux unilingues en une seule personne, les résultats de nos recherches concordent avec ceux de recherches antécédentes et démontrent que le bilinguisme n’est pas néfaste pour le développement langagier oral d’enfants d’âge scolaire ayant un DN ou ayant un TSA. / Since bilingualism and multilingualism are the norm rather than the exception, many children, including children with autism spectrum disorder (ASD), live in bilingual or minority-language households. However, little research has examined the language development of school-aged children who have been exposed to two languages since early childhood, and fewer still have examined bilingual school-aged children with ASD. In this thesis, I examine the influence of bilingualism on language development in both school-aged ND children and in their peers with ASD. This objective will be achieved through the three manuscripts making up this thesis. For the first manuscript, we completed a review of the literature in which we examined the language development of ND bilingual children, of bilingual children with various developmental disorders, and of bilingual children with ASD. This review revealed that, as with neurotypically developing (ND) children, children with ASD can become bilingual speakers, and that bilingualism is not detrimental to their language development. Our review also revealed some of the limits of the existing literature. First, the majority of existing studies had examined bilingual language development in preschool-aged children with and without ASD, but had not examined the language development of these bilingual children once they reached school age. Second, few studies had compared the language abilities of bilingual children with ASD to those of their ND bilingual peers, and at time of publication, none had compared them to those of ND monolingual children. The results from this review lead to two studies examining the influence of bilingualism on language development in school-aged ND children and in children with ASD. Our review of the literature suggested that language exposure may play an important role in determining bilingual children’s language ability. However, little was known about its influence in school-aged children. Therefore, for the second manuscript, I examined whether there was a relationship between language development and the amount of language exposure that ND simultaneous bilinguals (i.e. children having been exposed to both languages before the age of three years) received in each of their languages (French and English). I found a relationship between lifetime exposure to English and performances on some English-language expressive language measure, but not on receptive language measures. In French, no relationship between the amount of exposure to French and performances on any of the French-language measures was found. These differences in findings could be due to differences in language exposure ranges across both languages but other potential explanations are also discussed. Findings also show that when receiving 20% of their exposure to a language, most children were able to obtain scores within the average range on the language measures. Moreover, children who were exposed to both of their languages on a daily basis often had stronger performances on language measures than children who did not receive daily exposure to both of their languages. I hypothesized that positive transfer and improved metalinguistic abilities more generally may have contributed to improved language learning abilities in children who used both of their languages on a daily basis. Findings from the literature review also revealed that little was known about the language abilities of bilingual children with ASD once they reached school-age. With that in mind, the third manuscript reports on a pilot study that examined whether three simultaneous bilingual school-aged children with ASD (without a comorbid language disorder or an intellectual disability) could achieve language levels similar to those of their two French-monolingual peers with ASD. I also explored whether these bilingual children with ASD could reach language proficiency levels similar to those of their 19 ND simultaneous bilingual peers, in both of their languages (French and English), and whether they had similar abilities to those of their 12 ND French-monolingual peers. I found that the simultaneous bilingual children with ASD performed similarly on standardized language measures to their two monolingual peers with ASD, in both of their languages. They also had similar performances to those of their ND bilingual peers, as well as to those of their ND monolingual peers. Overall, these findings reveal that ND school-aged simultaneous bilinguals and their simultaneous bilingual peers with ASD (without a language disorder or intellectual disability) can achieve language proficiency levels similar to those of their monolingual peers, in at least one, if not both of their languages. While bilingual children are not two monolinguals within one child, our findings are similar to previous findings and show that bilingualism does not appear to impede the language development of school-aged ND bilingual children and bilingual children with ASD.