In this thesis, we propose a Serious Game (SG) for children with the Autism Spectrum Disorder (ASD) that builds on the concept of LEGO®-Based Therapy that is aimed at improving social and cognitive skills. The proposed SG is composed of building blocks augmented with electronic modules that connect to a computing device that provides visual feedback. We investigate the effects of using the proposed computer SG by comparing it to a non-computer block-game during two empirical studies, one following an unstructured play approach and a second one with structured play by assigning roles to the players. For the first study, the proposed system showed an improvement in social interaction, collaborative play and exercise performance, as well as a decrease in solitary play. For the second study, the proposed system showed an improvement in social interaction, positive vocalizations and exploratory behavior. There was also a marked preference towards the proposed game. Furthermore, we perceived a decrease on the assistance needed when using the proposed system during both studies. Our results suggest that the proposed system can be a useful play therapy tool aimed for young children with ASD.

O transtorno do espectro autista (ASD) é uma doença clinica e geneticamente heterogênea, com mecanismo etiológico ainda pouco conhecido. Assim, os principais objetivos deste trabalho foram descrever as características clínicas e genéticas de pacientes brasileiros com ASD, bem como determinar o risco de recorrência e a herdabilidade. Verificamos que a maioria das comorbidades avaliadas tem prevalência similar àquelas anteriormente descritas. A hipotonia exibiu maior prevalência no sexo feminino. A ausência de fala apresentou prevalência significativamente maior no grupo de pacientes com comorbidades, sendo que a gravidade da fala foi positivamente correlacionada com a presença das crises convulsivas. A herdabilidade estimada foi de 76% e o risco de recorrência ~5%. As alterações citogenéticas e os casos positivos para a Síndrome do X-Frágil explicaram cerca de 8% dos casos de ASD da nossa amostra. As CNVs nas regiões estudadas foram detectadas em 2,7% da amostra. Nós verificamos que há penetrância incompleta do ASD para as regiões. O estudo mais detalhado dos dois casos de duplicação da região 15q13.3, envolvendo somente o gene CHRNA7, mostrou que um dos pacientes (F5240) exibiu uma segunda CNV, possivelmente patogênica. A análise in silico sugeriu que genes que interagem diretamente com o CHRNA7 podem conter mutações patogênicas e, juntamente com a duplicação do 15q13.3, possivelmente estão envolvidos na etiologia do ASD. Este estudo mostrou que é necessário fazer uma ampla caracterização genética dos pacientes, para possibilitar o estudo dos possíveis mecanismos moleculares envolvidos na causa do ASD / Autism Spectrum Disorder (ASD) is a clinically and genetically heterogeneous disease and its etiological mechanisms are still poorly understood. The main objectives of this study were to describe the clinical and genetic features of Brazilian patients with ASD, and to determine the recurrence risk and heritability. Great part of the comorbidities assessed here had comparable prevalence to those of previous works. The hypotonia was significantly prevalent in the female sex. Absent speech was significantly more frequent in patients with comorbidities, and severity of speech problems was positively correlated with presence of seizures. Heritability was estimated as 76% and the recurrence risk as approximately 5%. Cytogenetic alterations and positive results for Fragile X Syndrome explain about 8% of the ASD etiology of our sample. The CNVs at the chromosomal regions 15q11-q13, 16p11.2 and 22q13 were present in 2.7% of the sample. Incomplete penetrance of ASD was observed for the 16p and 15q regions. Further investigation of the two cases with duplication of the region 15q13.3, involving only the CHRNA7 gene, revealed that one of them (F5240) exhibited a second possible pathogenic CNV. In silico analysis suggested that genes interacting directly with the CHRNA7 could harbor pathogenic mutations and, together with the duplication at 15q13.3, could be involved in the ASD etiology. This study showed the necessity of a broad genetic characterization of patients with ASD, to enable the elucidation of possible molecular mechanisms related to ASD etiology

Since the start of 2019 a new law has been introduced in Sweden, it serves to regulate web accessibility conformity for all publicly funded organisations. At the same time, many services and businesses move their physical fronts to the web. With more digitalization comes a greater need for web accessibility and there might be a risk that users with cognitive disabilities are neglected or forgotten when new and advanced tools and technologies are developed. Accessibility often receives low or no priority in the private sector due to the lack of time and resources. Cognitive disabilities do not always show and there is a risk that the difficulties are not taken into account when services or webpages are developed. These disabilities can affect areas such as the ability to learn new things, memory and the ability to plan one's actions. The purpose of this study is to investigate if there is any knowledge and experience among Swedish developers concerning accessibility, cognitive disabilities and the needs those individuals might have. To perform this study the needs had to be identified and connected to the standard that acts as a base for the new Swedish law. For this purpose, theory was gathered through a literature study as a foundation for a qualitative study consisting of a series of interviews with developers from six different organisations in the Swedish private sector. The interview subjects were selected from different organisations so that their views and opinions would not be affected by one and other for the purpose of increasing the studies generalizability. The interviews were held at locations selected by the interviewees by two different interviewers. The result from the literature study showed that there was no direct support for cognitive disabilities in the standard, but there are guidelines that could be applied to some of the needs identified in the study. Furthermore, the results of the interviews showed that the general knowledge and experience concerning accessibility and specifically cognitive accessibility is very low among Swedish developers. This study is aimed towards people working with development but is also suitable for students and teachers who wish to know more about accessibility and cognitive accessibility.

The aim of this master’s thesis is to study how a group of people diagnosed with autism spectrum disorder experience a visit to the library. By interviewing them I hoped to hear their thoughts on noise, lighting and the over all library environment. Did the informants get a fair treament by the library staff or did they feel stigmatized? The thesis is also aiming to expose how accessible the libraries’ websites are. Two librarians shared their insights about accessibility from the library in which they work. The interview showed there are still many aspects that need to improve until the library is autism friendly. The study shows that the informants prefer a silent library compared to a noisy one. They did not experience any stigmatization in the library. The informants use the digital services offered by the library in order to renew their books and to request new ones. However, the websites are not customized for people with Austism spectrum disorder. The informants main concern when visiting the library are loud noise and insufficient signs. This study is a two years master’s thesis in Library and Information Science.

Despite the growing interest for autistic users within the field of Human-Computer Interaction (HCI), the research is mostly limited to assistive technology and often neglects autistic users' own perspectives. Exploring autistic users’ experiences of different mainstream technologies that they use may give valuable knowledge. Using Instagram as a case for a qualitative study with 30 autistic adults, this paper contributes with such knowledge and in the process, it challenges preconceptions about autism that are common in HCI-research. Data from interviews and a survey (N=30) is analysed in the context of previous research and design concepts, discussing the implications for design and future research. Findings show that autistic users' needs are often similar to those of users in general, but may be more pronounced, and that if design recommendations are to be useful, researchers need to take the diversity within the autistic population into account more than is currently done.

Self-monitoring involves teaching students to be aware of their own behavior, and be able to record whether the behavior happened or not. The present study uses meta-analysis of single case design (SCD) studies to evaluate the effectiveness of self-monitoring interventions that use electronic devices during implementation for individuals with autism spectrum disorder (ASD). Eligible studies were accessed to determine design quality, and examine the use of self-monitoring for individuals diagnosed with ASD. Studies were evaluated against inclusion-exclusion criteria. The studies that met inclusion criteria (n = 15) were assessed with the What Works Clearinghouse (WWC) standards for methodological rigor. The WWC standards were applied to baseline and intervention phases. There were a total of 12 studies with 32 students diagnosed with ASD that met SCD standards without, and with reservations. The 12 studies were evaluated using the Tau-U effect size metric to quantify the percentage of change that was attributed to the self-monitoring intervention. Overall, omnibus Tau-U was 0.96 (95% confidence interval [CI] = [0.89, 1.0]). Limitations and directions for future research are discussed.

No description available.

Enrollment in post-secondary education for individuals with autism spectrum disorder (ASD) is increasing; however, students with ASD are less likely to complete a degree than students with other disabilities. Classroom performance requires attending to course-related information while filtering distractions. These attentional functions are critical for academic achievement. However, ASD is associated with pervasive impairments in attentional filtering. The present study used visual search, a task in which individuals with ASD excel, to investigate filtering of irrelevant social and non-social auditory information in college students with and without ASD. Results of the present study suggest a filtering deficit for individuals with ASD and indicate that this filtering impairment is present for both social and non-social information. Importantly, these deficits are present on a task in which individuals with ASD excel. Our findings suggest that irrelevant social and non-social sounds may adversely affect performance in college-aged students with high-functioning ASD and highlight the importance of minimizing competing background noise for these students.

The purposes of this study are to investigate the effect of the Music Attention Control Training (MACT) on three types of attention (sustained, selective, switching) in pre-adolescents (10-14 years old) with Autism Spectrum Disorder (ASD) and to identify the impact of the level of severity (mild, moderate, severe) on changes in attention scores. This modified replication study included 23 participants randomly assigned to treatment and control group stratified based on severity of ASD. Significant results via two-tailed paired-sample t-test (p< .10) indicated significant positive trends with the treatment group for the 3 out of 4 subtests of selective attention: Hector Cancellation, Hector-B Cancellation, and Hecuba Visual Search; 1 out of 4 subtests of sustained attention: Sustained Attention Response Test (SART); and the single subtest of switching attention: Red & Blues, Bags & Shoes (RBBS). Results call for modifications to further support the role of MACT on attention skills with pre-adolescents with ASD. Implications for future research and contributions to clinical practices in music therapy are discussed.

L’étude de la Régulation Emotionnelle (RE) et du tempérament chez l’enfant d’âge scolaire est au cœur de ce travail de thèse. En raison du manque d’outils satisfaisants, un premier questionnaire a été développé pour évaluer les compétences de RE et une seconde échelle a été traduite pour permettre la caractérisation du tempérament. D’après les rapports parentaux, il semble qu’avec l’âge, l'enfant sollicite de moins en moins son parent lors de situations émotionnelles et devienne apte à user de stratégies de RE intrapersonnelle pour contrôler l'émotion négative ou positive. Ceci suggère que la RE est un ensemble de compétences se développant encore en fin d’enfance. Au contraire, une stabilité de l’expression du tempérament entre 7 et 10 ans est rapportée, donnée en accord avec les données de la littérature. Enfin, l’étude de l’expression de la RE et du tempérament a été initiée chez l’enfant porteur d’un Trouble du Spectre Autistique (TSA). Selon les rapports parentaux, les enfants porteurs d’un TSA sont décrits comme usant moins de la RE interpersonnelle et comme présentant plus de difficultés de contrôle des émotions fortes (A-RE) que les enfants typiques. En outre, l’analyse intragroupe fait émerger 2 profils de RE, profils divergeant sur le plan de la RE intrapersonnelle et de l’A-RE. En couplant ces profils de RE aux 3 profils de tempérament isolés, il semble que la dimension tempéramentale contrôle volontaire soit associée aux difficultés de contrôle de l’émotion forte. Ces résultats ont une portée théorique et pratique intéressante car jusque-là les difficultés émotionnelles rencontrées chez l’enfant porteur d’un TSA n’ont jamais été évoqué en termes de tempérament. / At the heart of this thesis is the study of the expression of Emotion Regulation (ER) and temperament during middle childhood. Unfortunately, few satisfactory scales are available in French. Thus, a first questionnaire has been developed for assessing skills of ER and a second scale has been translated to provide a characterization of temperament in children. Parental reports indicate decreased use of interpersonal ER, which suggests that with age, children learn to regulate their emotions, and to use intrapersonal strategies in order to cope with positive as well as negative emotions. On the contrary, expression of temperament appears to be stable during middle childhood, and these results are in agreement with literature. Finally, in a pilot research, we have compared the expression of ER and temperament of 8 boys with autism spectrum disorders (ASD) matched on chronological age with 8 boys with typical development. According to parental reports, children with ASD use less interpersonal ER and present more difficulties to regulate intense emotions (A-RE) in comparison to typical children. Intragroup analysis revealed two patterns of ER in children with ASD. These patterns differ precisely in regards to the intrapersonal ER and A-ER. Association between profiles of ER and different profiles of temperament highlight that temperamental dimension of effortful control is linked to the level of A-ER. As until now the emotional difficulties frequently encountered/reported in children with ASD have never been mentioned in terms of temperament, the results of this thesis present new innovative theoretical and practical perspectives.