Autism is a neurodevelopmental disorder that is characterized by deficits involving social interaction, communication, and perception. Although there is much research that has examined functional neural connectivity in individuals with autism, few have conducted these studies in very young children while awake across EEG power and coherence measures. Anomalies in EEG coherence and power have been associated with deficits in executive function and mental activity. The present study examined neural activation and functional connectivity with an EEG, in children ages 3 -5, during an eyesclosed baseline period. Discrete Fourier Transform was performed on artifact-free segments of EEG data to produce power density values. In addition, coherence measurements were examined to assess functional connectivity in the alpha bandwidth during the baseline recording. Children with autism spectrum disorder (ASD) demonstrated reduced alpha coherence in fronto-temporal regions and between right temporal sites when compared to typically developing (TD) children. In addition, the reduction in coherence was based on ASD severity, such that high-functioning children with ASD showed greater coherence than low-functioning children with ASD. Children with ASD also displayed reduced power in the alpha, beta, and theta frequency bandwidths in frontal, temporal, central, and occipital regions compared to TD children. Interestingly, delta power differentiated children based on developmental status such that high-functioning children with ASD demonstrated the greatest delta power, followed by TD children, and then low-functioning children with ASD. Finally, TD children demonstrated left anterior temporal EEG asymmetry in the alpha bandwidth, whereas children with high-functioning ASD exhibited left posterior temporal EEG asymmetry and right frontal EEG asymmetry. Thus, the results suggest that children with ASD exhibit atypical patterns of brain activity and functional connectivity compared to their typically developing counterparts. / Includes bibliography. / Dissertation (Ph.D.)--Florida Atlantic University, 2013.

Os transtornos do espectro autista (TEA) são caracterizados por dificuldades na interação social e na comunicação, interesses restritos e comportamentos estereotipados. Trata-se de doença complexa, podendo estar relacionada a fatores ambientais, genéticos ou a ambos. A heterogeneidade genética dos TEA pode ser explicada pela presença de variantes raras patogênicas únicas (modelo monogênico) bem como pela combinação de alelos raros (modelo oligogênico) ou ainda pela combinação de alelos comuns de baixo risco (poligênicos). Há um esforço mundial na tentativa de se identificar variantes que conferem risco e, nos últimos anos, a identificação de variantes raras tem sido mais bem sucedida. As estimativas indicam que 10% dos indivíduos dentro do espectro do autismo possuem uma síndrome de padrão de herança mendeliana dentre elas a síndrome do cromossomo X frágil cujo mecanismo molecular se explica pela mutação completa no gene FMR1. A partir dos anos 2000 aproximadamente, alguns trabalhos na literatura sugeriram que a pré-mutação do gene FMR1, associada à síndrome do tremor e ataxia e a insuficiência ovariana primária associada ao X frágil (FXTAS e FXPOI), pudesse estar relacionada ao TEA. Essa ligação, no entanto é incerta, sendo por isso, o foco deste trabalho. Para tanto, foi realizada uma revisão bibliográfica buscando dados na literatura que comparassem pacientes portadores da pré-mutação com controles quanto à manifestação dos TEA. Foi levantada a frequência de portadores da pré- mutação no gene FMR1 entre 1056 probandos do grupo de pesquisas em transtornos do espectro autista do Centro de Pesquisas sobre o Genoma Humano e Células Tronco. Nesses pacientes foram também realizados exames complementares. Efetuou-se também um levantamento de eventuais casos de TEA entre os portadores da pré-mutação em outra casuística, composta de famílias de afetados pela síndrome do X frágil, no laboratório de genética humana do Departamento de Biologia Evolutiva - Instituto de Biociências - USP O primeiro levantamento revelou uma frequência de 0.19% de pré-mutados na casuística composta por pacientes com TEA (2:1055), semelhante à da população em geral. O segundo levantamento não revelou nenhum paciente com TEA entre os pré- mutados. Além disso, os dois pacientes pré-mutados na primeira casuística são portadores de uma CNV patogênica. Este estudo não apóia, portanto, uma relação causal entre TEA e a pré-mutação do gene FMR1 / Autism spectrum disorders (ASDs) are characterized by impairments in social interaction and comunication as well as restricted interests and stereotyped behaviors. ASD is a complex disease that may be related to environmental factors, genetic factors or both. Genetic heterogeneity in ASD may be explained by rare pathogenic variants (monogenic model), by a combination of rare alleles (oligogenic model) or by other combinations of low-impact common alleles (polygenic model). Researchers are working to identify risk variants and have been more successful in finding rare variants in recent years. Monogenic disorders (Mendelian disorders), such as fragile X syndrome, are found in 10% of ASD patients. Fragile X syndrome is caused by full mutation in the FMR1 gene and account for a fraction of ASD cases. FMR1 premutation is related to two different conditions: fragile X-associated tremor/ataxia syndrome (FRAXTAS) and fragile X-associated primary ovarian insufficiency (FXPOI). In the last two decades some researchers have associated premutation with behavior problems. However the association between premutation and ASD remains unclear and thus it was the focus of this investigation. This study includes an extensive review of articles that compare ASD manifestations in premutation carriers and controls. The study also estimated the premutation frequency in 1056 male patients from the ASD cohort at the Human Genome and Stem Cell Research Center. Complementary tests were performed on these patients to rule out any other genetic alterations that could explain clinical presentations of ASD. Moreover, a survey was performed of possible ASD cases among premutation males from fragile X families in the database of the Human Genetics Laboratory at the Biology Department of the Biosciences Institute. A frequency of 0.19% of premutation carriers was detected in the sample of ASD patients(2:1055), which is similar to the general population. No ASD patients were detected among the premutated males. Furthermore the two pre-mutated patients in the first sample harbored a pathogenic CNV. Therefore this study do not support an association between the FMR1 premutation and ASD

Young people with Autism Spectrum Disorders (ASD) are more prone to experience anxiety disorders at a greater level compared to their neurotypical developing counterparts, causing lifelong impairments in family, social, academic and adaptive functioning. Early interventions in childhood have been designed to minimize these stressful events and to optimize children’s developmental outcomes. Cognitive behavioural therapy (CBT) is considered a first-line intervention of anxiety. The review aimed to synthesize empirical literature on modified CBT interventions from 2009 until 2019 focusing on reducing anxiety in children and adolescents with ASD. A systematic review of the literature was conducted in five databases. As a result, 10 articles were included to review. Modifications found were: a) audiovisual support and written materials, b) parental partic-ipation, c) sessions length, d) language, e) sensory and motor accommodations, f) emphasis into the behav-ioural component, g) enhancement of individual’s attention and participation, h) facilitating materials to access the content of CBT, and i) participants’ specific interests and worries. The interventions showed significant reductions in youth anxiety levels. Future research should focus on addressing which specific modifications contribute to anxiety reduction since to date, there is no evidence comparing standard CBT to modified CBT interventions. Moreover, there is a lack of anxiety-assessment instruments specially designed for individuals with ASD. In addition, considering the longstanding prevalence of male autistic rates, ASD diagnostic instru-ments should be revised to reduce bias that can mislead to an inattentive ascertainment of females with ASD.

This study examined the use of an iPhone and List Recorder application to teach three adolescents with autism spectrum disorder to enhance their interpersonal daily living skills in a community setting. Participants were taught to use interpersonal skills to perform an ordering and purchasing task. A multiple probe design across participants was used to demonstrate the effects of the intervention on the participants’ performance. Results indicated an increase in interpersonal skills used in a community setting. Participants were able to generalize these skills to another community setting. Finally, participants were able to demonstrate these skills once the intervention was removed during follow-up. Implications for future research are discussed. / Includes bibliography. / Dissertation (Ph.D.)--Florida Atlantic University, 2017. / FAU Electronic Theses and Dissertations Collection

Submitted by Caroline Xavier (caroline.xavier@pucrs.br) on 2017-06-30T17:22:52Z No. of bitstreams: 1 DIS_ANIBAL_SOLON_HEINSFELD_COMPLETO.pdf: 12807619 bytes, checksum: d11b60094a8bde0d839a6f7a23bbb56c (MD5) / Made available in DSpace on 2017-06-30T17:22:52Z (GMT). No. of bitstreams: 1 DIS_ANIBAL_SOLON_HEINSFELD_COMPLETO.pdf: 12807619 bytes, checksum: d11b60094a8bde0d839a6f7a23bbb56c (MD5) Previous issue date: 2016-03-28 / O Espectro Autista (EA) compreende uma s?rie de desordens no desenvolvimento neurol?gico, caracterizado por defici?ncias sociais e dificuldades de comunica??o, comportamentos repetitivos e atrasos cognitivos. Atualmente, o diagn?stico do EA ? amplamente baseado em medi??es comportamentais, que pode ser demorado, e depende da coopera??o do paciente e da experi?ncia do examinador. Para mitigar esta limita??o, investigamos padr?es neurais que ajudem no diagn?stico de desordens do EA. Nesta disserta??o, usamos t?cnicas de deep learning, a fim de extrair caracter?sticas robustas de neuroimagens de pacientes com autismo. Neuroimagens cont?m cerca de 300.000 pontos espaciais, com aproximadamente 200 medi??es cada. As t?cnicas de deep learning s?o ?teis para extrair caracter?sticas relevantes que diferenciam autistas de n?o-autistas. Ao utilizar denoising autoencoders, uma t?cnica de deep learning espec?fica que visa reduzir a dimensionalidade dos dados, n?s superamos o estado da arte, atingindo 69% de acur?cia, comparado com o melhor resultado encontrado na literatura, com 60% de acur?cia. / Autism Spectrum Disorders (ASD) comprise a range of neurodevelopmental disorders, characterized by social deficits and communication difficulties, repetitive behaviors, and cognitive delays. The diagnosis of ASD is largely based on behavioral measurements, which can be timeconsuming and relies on the patient cooperation and examiner expertise. In order to address this limitation, we aim to investigate neural patterns to help in the diagnosis of ASD. In this dissertation, we use deep learning techniques to extract robust characteristics from neuroimages of autistic subject brain function. Since neuroimage contains about 300,000 spatial points, with approximately 200 temporal measurements each, deep learning techniques are useful in order to extract important features to discriminate ASD subjects from non-ASD. By using denoising autoencoders, a specific deep learning technique that aims to reduce data dimensionality, we surpass the state-of-the-art by achieving 69% of accuracy, compared to 60% using the same dataset.

Submitted by Filipe dos Santos (fsantos@pucsp.br) on 2018-07-25T11:52:04Z No. of bitstreams: 1 Fernanda Cristina Reis Merli Martins.pdf: 1391280 bytes, checksum: 7de33478438070c31011d566fa2007f8 (MD5) / Made available in DSpace on 2018-07-25T11:52:04Z (GMT). No. of bitstreams: 1 Fernanda Cristina Reis Merli Martins.pdf: 1391280 bytes, checksum: 7de33478438070c31011d566fa2007f8 (MD5) Previous issue date: 2018-05-25 / Conselho Nacional de Pesquisa e Desenvolvimento Científico e Tecnológico - CNPq / Objectives: Assessment of oral and verbal praxias in four 4 to 7-year-old children diagnosed in Autistic Spectrum Disorder. Method: This research is an exploratory study on the evaluation of praxias in four autistic children. Oral Praxias: First, the responses presented to verbal commands are observed, and, in case of no response, performance of movement by imitation is tried. For the verbal praxias, a situation of playful interaction with the child for the recording was developed.Results: Evaluation of Oral Praxias: the assesment of praxias voiced had its worst performance presented by the youngest child, and the absence of achievement lies on two motor acts. The assessment of oral-facial praxias presented the worst performance for the youngest child. Praxias assessment with increased difficulty action being imitation the privileged way recognized by everyone in the children’s achievement. In praxias assessment involving parallel movements, Child One presents the worst result, performing one movement only, the simplest in the series. Child Three uses imitation for most achievements and finally, Child Four does not perform two movements, precisely those involving sounds. Verbal Praxias Assessments: In general the main features presented were breathy and monotonous voice, heightened pitch and intersected speech with alternations in rhythm. Every participant involved in the research showed a strong tendency to centralize the sounds in their emission. The prosody is altered in two cases, the youngest child still uses a very childish prosody, Child Two, in its turn, alters the vocal tone. Conclusion: The praxic configuration condition verified in each patient points to disorders that seem to be linked to superior processes of motor planning, called apraxia. This research has made it possible to present data that show that these children present a co-occurrence of alterations: autism and apraxia. However, these findings do not confirm a direct connection of such co-occurrence in all children with ASD / Objetivos: Avaliar as praxias oral e verbal em quatro crianças de 4 a 7 anos de idade diagnosticadas no Transtorno do Espectro Autista. Método: Esta pesquisa é um estudo exploratório sobre a avaliação de praxias em quatro crianças autistas. Praxias Orais: Em primeiro lugar são observadas as respostas apresentadas a comandos verbais, sendo que, no caso de não resposta, tenta-se a realização do movimento por imitação. Para as praxias verbais, foi criada uma situação de interação lúdica com a criança para a gravação. Resultados: Avaliação das Praxias Orais: Avaliação das praxias sonorizadas, O pior desempenho, apresentado foi da criança menor, sendo que a ausência de realização se localiza em dois atos motores. A avaliação das praxias orofaciais apresentou o pior desempenho para a criança menor. A avaliação de praxias com movimentos em sequência a dificuldade tem um incremento, sendo a imitação a maneira privilegiada por todos na realização das crianças. A avaliação de praxias envolvendo movimentos paralelos, a criança um apresenta o pior desempenho, realizando apenas um movimento, o mais simples da série. A criança três utiliza imitação para maior parte das realizações e por fim, a criança quatro não realiza dois movimentos e exatamente os que envolvem sonorização. Avaliação das Praxias Verbais: De um modo geral as características principais apresentadas foram voz soprosa e monótona, pitch agudizado e fala entrecortada, alterando o ritmo. Todos os participantes envolvidos na pesquisa apresentam uma forte tendência a centralizar os sons em sua emissão. A prosódia está alterada em dois casos, a menor de todas as crianças se utiliza de uma prosódia ainda muito infantil, a criança dois, em sua vez, altera a tonicidade vocabular. Conclusão: A condição práxica verificada em cada paciente, aponta para desordens que parecem ligadas a processos superiores de planejamento do ato motor, o que se denomina dispraxia. Esta pesquisa permitiu apresentar dados que comprovam que nestas crianças há uma co-ocorrência de alterações: autismo e dispraxia. Entretanto, estes achados não permitem apostar que tal co-ocorrência será verificada em todas as crianças com TEA

Orientador: Lucia Pereira Leite / Banca: Silvia Ester Orrú / Banca: Andrea Regina Nunes Misquiatti / Resumo: Esta pesquisa objetivou descrever e analisar como estudantes com Transtornos do Espectro Autista (TEA) percebem sua trajetória acadêmica, no contexto universitário. Participaram da investigação seis estudantes de uma universidade pública do Estado de São Paulo, que se autodeclararam com Transtornos do Espectro Autista no ato da rematrícula no sistema eletrônico de graduação da instituição. Para a coleta de dados, foi utilizada a Escala de Percepção do Suporte Social - EPSS, a Escala de Avaliação de Traços Autísticos - ATA e um roteiro norteador de entrevista. Os dados extraídos com a aplicação do roteiro de entrevista foram analisados qualitativamente, de acordo com o procedimento de núcleo de significação, descrito por Aguiar e Ozella (2006). Os dados obtidos por meio da correção da "Escala de percepção do suporte social" e da "Escala de Traços Autísticos" foram analisados quantitativamente. A média dos escores obtidos com a EPSS foi de 2,1 para o suporte prático e 1,9 para o suporte emocional. Os núcleos de significação encontrados por meio da análise das entrevistas foram: 1) Trajetória escolar básica de estudantes com TEA: experiências educacionais e dificuldades enfrentadas; 2) Trajetória Universitária de estudantes com TEA: vivências e fatores influenciadores; e 3) Significado e sentido da trajetória universitária de estudantes com TEA. Foi possível averiguar falta de percepção do suporte social, durante a graduação. Os participantes do estudo relataram principalmente a... (Resumo completo, clicar acesso eletrônico abaixo) / Abstract: This study aimed to describe and analyze how students with Autistic Spectrum Disorders (ASD) perceive their academic trajectory in the university context. Six students from a public university in the State of Sao Paulo participated, who declared themselves to have Autism Spectrum Disorders at the time of re-enrollment in the institution's electronic system of graduation. The Social Support Perception Scale (SSPS), the Scale of Autistic Traits (SAT) and a guideline interview were used to collect data. Data extracted with the application of the guideline interview was analyzed qualitatively, according to the core meaning procedure, described by Aguiar and Ozella (2006). Data obtained through the correction of the "Social Support Perception Scale" and the "Scale of Autistic Traits" were analyzed quantitatively. The mean scores obtained with SSPS were 2.1 for practical support and 1.9 for emotional support. The nuclei of significance found through the analysis of the interviews were: 1) Basic school trajectory of students with ASD: educational experiences and difficulties faced by the students; 2) University trajectory of students with ASD: experiences and influencing factors; and 3) Meaning and sense of the university trajectory of students with ASD. It was possible to verify the lack of perception of social support during graduation. The study participants reported mainly aspects related to bullying; unprepared professionals and complications related to the condition of ASD. In... (Complete abstract click electronic access below) / Mestre

Peer aggression can take the form of physical hostility, adverse peer pressure, teasing, shunning, and social rejection (Little, 2002). Repeated acts of peer aggression are considered peer victimization and affect children with disabilities more often than children with no reported disabilities or psychiatric disorders (Baumeister, Storch, & Geffken, 2008; Pittet, Berchtold, Akre, Michaud & Suris, 2011). Personal characteristics and contextual factors have been linked to higher rates of peer aggression and the presence of peer victimization (Baumeister, et al., 2008; Bejerot & Morthberg, 2009; Boivin, Vitaro, & Bukowski, 1999; Hodges, Boivin, Vitaro, & Bukowski, 1999; Mishna, 2003). Youth who have experienced peer victimization have been found to suffer consequent loneliness, depression, low self-esteem, anxiety and suicidal ideation (Bond, Carlin, Thomas, Rubin, & Patton, 2001; Hawker & Boulton, 2000; Hunter, Boyle & Warden, 2007; Siegal, La Greca, & Harrison, 2009). The present study used a caregiver survey to investigate experiences of peer aggression and peer victimization, as well as factors linked to such victimization among children with autism spectrum disorders (ASD), with other disabilities (OD), and without disabilities (WD). The main analyses addressed five sets of research questions. The first three research questions pertained to all three groups of participants and (1) compared rates of peer aggression and the proportion of children who experienced peer victimization between the ASD, OD and WD groups, (2) asked which personal factors were associated with peer aggression and peer victimization, and (3) asked which personal factors best predicted peer aggression and peer victimization. The last two research questions pertained to the ASD and OD groups only (disability group) and asked (1) which personal factors and contextual factors were associated with peer aggression and peer victimization, and (2) which personal factors and contextual factors best predicted peer aggression and peer victimization. The main analyses indicated that children with ASD and OD experienced significantly greater rates of peer aggression than peers in the WD group. Additionally, the ASD and OD groups of children were more likely to experience peer victimization than the WD group.Peer aggression was correlated with autistic traits, anxious/depressed, withdrawn/depressed, thought problems, and attention problems. A multiple regression analysis indicated that the variable of anxious/depressed was the only variable that significantly contributed to the model and it accounted for approximately one-third of the variance. Caregivers whose children experienced peer victimization reported significantly higher scores in autistic characteristics, anxious/depressed, withdrawn/depressed, thought problems, and attention problems. A forward logistic regression analysis indicated that anxious/depressed was the only variable that predicted peer victimization. The multiple regression and forward logistic regression models produced for the combined ASD and OD group were similar to the models produced during the prior analyses for all three groups. Anxious/depressed was the only variable that significantly contributed to the multiple linear regression and forward logistic regression models. Contextual variables were not correlated with peer aggression or associated with peer victimization and they did not significantly contribute to the regression models.

Two testing conditions (immediate and delayed) were used to test for the presence of imitation and emulation in typically developing and developmentally delayed children, including children with autism spectrum disorder, ranging in age from 2.8-years old and 4.0-years old, in two experiments, Experiment I (n=20), Experiment II (n=30). Using a mixed within-between design, I compared the performance of the two groups across various tasks in two testing conditions and analyzed their performance. The participants were selected because they fit the criteria of 1) being between the age of 2.5 and 4 years of age at the onset of the study, 2) had gross motor and generalized imitation in repertoire, and 3) observational learning was present. The independent variable was the test interval in both experiments across both testing conditions, immediate and delayed. The dependent variables were the unconsequated responses during the test interval (Experiment I and II). The embedded dependent variable in Experiment II was the number of 5s intervals participants interacted with a puzzle box in the free play setting. Responses were defined as imitation (copy the specific actions with point-to-point correspondence), or emulation (bring about the model’s goal by the observer’s own methods and means, no point-to-point correspondence but same end result). In the first experiment I found that although typically developing preschoolers often imitate in the short term, they were more likely to emulate in the long term when not shown again how to use the items. In contrast the participants with autism spectrum disorder were more likely to imitate across both testing conditions. My findings support evidence that typically developing children naturally shift from imitation to emulation and that children are in fact emulators in contrast to research that suggests otherwise. For those children with autism, Experiment I, supports evidence that they are potentially missing a developmental cusp (emulation). Experiment II sought to replicate the findings in Experiment I and differed in that 1) more tasks were added, 2) more participants were used, and 2) a free play observation session was added. The results from Experiment II supported the results from Experiment I, in that, all participants (typically developing and those with autism) were more likely to imitate in the short-term immediate testing condition; however, typically developing children naturally shifted to an emulative response given a delay, whereas, those children with autism continued to emit imitative behaviors given a delay, signifying that children with autism are missing the developmental cusp of emulation. The findings support the notion that emulation is a developmental cusp and that children with autism often are missing this developmental cusp.

I conducted a descriptive analysis on the emission of vocal and non-vocal social/verbal interactions between 35 dyads of preschool-aged-children diagnosed with Autism Spectrum Disorder (ASD) and their mothers. Using previously recorded videos of 5-min isolated free-play sessions between the mother-child dyads, I transduced each occurrence of verbal operants, attempted verbal operants (i.e., emissions not reinforced by a listener), and additional verbal behaviors such as fantasy play emitted by the child, and approvals and disapprovals emitted by the mother. Each verbal behavior was defined as either vocal verbal behavior, non-lexical vocal verbal behavior, or non-vocal verbal behavior, all with a function to communicate. The procedure consisted of identifying each instance of verbal behavior emitted between the mother and child rotating across listener and speaker responses until either no response occurred, or the session concluded. The listener and speaker responses were further transduced into individual initiated conversational units (speaker-listener-speaker rotations). These data were statistically analyzed with previously collected child educational variables and mother demographic variables: child's level of verbal behavior in accordance with the Verbal Behavior Developmental Assessment-Revised (VBDA-R), number of acquired objectives on the Comprehensive Application of Behavior Analysis to Schooling International Curriculum and Inventory of Repertoires for Children from Preschool through Kindergarten (C-PIRK), the Autism Diagnosis Observation Schedule-Second Edition (ADOS-2) severity scores, and the scores on the Vineland-3 Adaptive Behavior Scales-Third Edition (VABS-3). The mother demographic variables were level of education and household income. The results of the study were as follow: (1) a significant relationship was shown between the child's level of verbal behavior (extracted from the VBDA-R) and performance on the C-PIRK, VABS-3, and between the ADOS-2 Modules used to assess for ASD severity; (2) the results did not show a significant difference between the child's level of verbal behavior and the number of child-initiated conversational units. The differences in the verbal behavior exchanged between the mother and child were, however, indicated across the child's form of verbal behavior - vocal, non-lexical, and non-vocal verbal behavior - emitted with the mother. Results are interpreted as parents of children without vocal verbal behavior require parent training tailored to their child's verbal developmental repertoires rather than their chronological age to ensure all communicative opportunities are captured. Educational implications, limitations, and future avenues of research are discussed.