The purpose of this phenomenological study was to describe the experiences of parents who manage the health needs of an adolescent with Autism Spectrum Disorder (ASD). Qualitative interviews were conducted with parents from 10 families of adolescents with ASD residing in Virginia. Data were analyzed using Clark Moustakas’ method of analysis of data in which the phenomenologist asks the following questions: What are the individual’s experiences, and in what context did they experience them? This study maximized credibility by using three strategies: prolonged engagement, peer debriefing, and member checking. “Parents needing help” emerged as the essence of the parents’ experiences. Four themes representing the essential challenging elements of the parents’ experiences included concern with medications, frustrations with healthcare services, recognizing secondary health issues, and the need for resources and services. Findings of the current study revealed key factors to be considered in the development and delivery of help in managing the adolescent with ASD healthcare needs. These included providing guidelines for primary care providers, increasing the healthcare provider’s awareness and understanding of ASD, and increasing the number of resources for parents of adolescents with ASD. The results of the study confirmed that managing the adolescent’s healthcare needs was frustrating and challenging and that parents had a need for help in managing these needs. Nurses can be integral in helping parents to overcome frustrations and challenges by becoming more aware of the ASD spectrum of neurobiological disorders, by creating and planning interventions for parents, by sharing information regarding resources and services, and by collaborating with others in the healthcare field to provide services for adolescents and their families. Additional research, both qualitative and quantitative is needed to understand how both parents and adolescents with ASD experience this transitional period.

in English: This diploma thesis is focused on parents coping with the burden of having children with autism spectrum disorder. It's goal is to analyze parent's strategy to cope with such burden in relation to taking care of a child with autistic spectrum disorder. Thesis is constructed as an emprical qualitativeresearch which also involves quantitative data. Data were acquired via half - structured interviews with parents of children with autism spectrum disorder.Furthermore, a questionnaire SVF 78 "Strategy of stress management" was used and filled out by the parents. The data were subsequently qualitatively analyzed and interpreted using content analysis. Finally, a comparison to specialized literature was performed. The text of the thesis itself is composed of three parts. First part includes theoretical solutions that are based on both Czech and foreign literature concerned with autism theory and coping with stress of parents bringing up an autistic child. Second part is focusing on the methodology and data analysis procedure. The final third part is dedicated to the interpretation of interviews and discussion results, combined with results of available literature research. The benefit of this diploma thesis is discovery of what helps to parents of autistic children to cope with the stress...

Autism Spectrum Disorder (ASD) is an umbrella term for disorders involving deficits in social interaction, stereotyped behaviours and communication dificulties. A growing area of research has recently focused on motor deficits in ASD, which have been noted in clinical observations and diagnostic criteria since autism was first described. However, motor deficits have traditionally carried little weight in the diagnostic procedure. Until recent changes to diagnostic criteria (Diagnostic and Statistical Manual 5th edition: DSM-5), a comorbid diagnosis of Developmental Coordination Disorder (DCD: a neurodevelopmental disorder affecting motor development) was not possible for those with ASD and motor deficits. This exclusion criterion prompted an investigation of the nature of motor deficits in ASD, questioning whether they are characteristically different from motor deficits in DCD. Previous literature suggested a possible double dissociation in the use of vision and proprioception to guide movement and perception in ASD and DCD, with a reliance on proprioception in ASD, and an over-reliance on vision in DCD. Motor deficits were first investigated by looking at high-level motor skills, and then more basic sensory processing associated with movement to investigate this possible dissociation. There was no significant difference between ASD and DCD on a standardised motor battery (Movement Assessment Battery for Children 2nd edition: MABC-2), with 70% of children with ASD showing motor difficulties within the clinical range on tasks such as timed manual dexterity tasks and balance. Similarly, children with ASD and poor motor skills were indistinguishable from children with DCD on a number of basic motor tasks manipulating visual and proprioceptive cues. These tests included spatial location matching, reaching, goal-directed movements towards proprioceptively-defined targets, and the rubber hand illusion. Children with poor motor skills with a diagnosis of either ASD or DCD seemed to either rely more heavily on visual cues, or behaved in a similar way to typically developing (TD) children. In the spatial location matching task, children with ASD and spared motor skills showed a tendency to give more weight to proprioceptive cues, however too few children with ASD and spared motor skills took part in other tasks to fully investigate cue weighting in this subgroup. Mirroring the overlap in social and motor skills in the clinical groups, a study of the relationship between perceived social and motor ability in a large sample of TD children highlighted the related nature of these developmental domains in typical development. It is concluded that motor deficits in ASD are not ASD-specific but are instead indicative of an additional diagnosis of DCD. This is supported by the recent change to diagnostic criteria.

Magister Artium (Psychology) - MA(Psych) / Parental knowledge and experiences regarding autism spectrum disorder have a huge effect on the life of the caregiver. Once a child has been diagnosed and needs treatment, parents/caregivers have to adjust in many ways. The adjustment will vary depending on the needs of the child at that particular point. Caregivers to an autistic child have to acquire comprehensive knowledge regarding autism spectrum disorder. A support system plays a pivotal role in the raising of an autistic child. The objective of this study was to explore the knowledge, experiences and coping mechanisms of single mothers raising an autistic child in a low-income community in Western Cape Province. A qualitative research approach was employed to gain access to the experiences of single mothers raising an autistic child, and in-depth interviews were conducted with six single mothers from a low-income community. Transcriptions were analysed in accordance with the approach of thematic analysis. Results indicated that participants experience many challenges: lack of knowledge, inexperience, personal challenges, and society’s perceptions of autism were highlighted. Participant’s social support given by family, community and organisations they allowed for coping and resilience to outweigh the challenges. The single mother’s experiences varied however the resilience has allowed them to cope and gain the needed inner strength to embrace the experience each day. Further research is needed to highlight fathers’ experiences and their coping mechanisms in raising an autistic child.

The aim of the current study was to bring greater clarity to our understanding of the relation between theory of mind (ToM) and executive function (EF), specifically working memory (WM) and inhibitory control (IC), during typical adolescent development and of the specific nature of impairments in ToM and EF in the cognitive profile of individuals with Asperger's Syndrome and High Functioning Autism (AS/HFA). In total, 80 participants, half typically developing (TD) and half with AS/HFA, participated in the study. TD participants were matched to the participants with AS/HFA on chronological age and gender. Participants were tested across two test sessions, approximately one year apart. For Session 1, the TD participants ranged in age from 10.1 to 17.9 years (M = 14.68, SD = 2.05), and the participants with AS/HFA ranged in age from 10.2 to 17.9 years (M = 14.64, SD = 2.19). I tested the participants on a ToM battery, consisting of an emotional perspective taking measure, the Mind in the Eyes Test, and two cognitive perspective taking measures, the Advanced ToM Vignettes, designed by the researcher, and Happé's Strange Stories. In addition, an EF battery was administered, containing a Reading Span Task, Change Detection Task, and Flanker Task, which assessed verbal WM, visual WM, and IC, respectively. Firstly, I found that older children and adolescents with AS/HFA, especially the girls with AS/HFA, performed worse on ToM measures tapping cognitive perspective taking relative to TD peers. Secondly, I observed that ToM and EF continue to develop during later childhood and adolescence as part of both typical and atypical development. Thirdly, I found that verbal WM and IC were more strongly associated with ToM in the AS/HFA group, indicating that individuals with AS/HFA may require more executive resources for ToM reasoning. Based on my results, I suggest that ToM and EF are still developing during later childhood and adolescence in both TD individuals and individuals with AS/HFA, indicating that the brain regions supporting ToM and EF processing are still plastic and can therefore be targeted for intervention.

Os transtornos do espectro autista (TEA) são distúrbios neuropsiquiátricos bastante comuns, graves, e que propiciam grande impacto social e financeiro. A identificação de vias moleculares e processos celulares alterados que são compartilhados pelos pacientes, mesmo que estes apresentem causas etiológicas distintas, pode contribuir de forma significativa para o entendimento de sua patofisiologia desses transtornos. Ainda, a identificação destas vias pode propiciar o desenvolvimento de abordagens terapêuticas mais eficientes, uma vez que o uso de medicamentos nos TEA ainda é inadequado, envolvendo baixa melhora funcional e diversos efeitos colaterais, como o ganho excessivo de peso e anormalidades metabólicas associadas. Neste trabalho, selecionamos como uma primeira abordagem o estudo da via de sinalização PI3K-mTOR em pacientes com TEA não-sindrômico, via esta envolvida com diversos aspectos do desenvolvimento e funcionamento neuronal, assim como com a patofisiologia de síndromes monogênicas que apresentam alta prevalência de TEA em seu quadro clínico. Foram utilizadas como modelo experimental in vitro células-tronco mesenquimais provenientes de polpa de dente decíduo (SHEDs) de pacientes e indivíduos controles. Os resultados aqui obtidos sugerem a importância da desregulação da via PI3K/mTOR na patofisiologia de uma parcela importante dos casos de TEA não-sindrômico. Ainda, observamos que as células dos pacientes com alterações nessa via de sinalização apresentam maior capacidade proliferativa, e que a modulação deste fenótipo alterado por meio do uso concomitante de inibidores de PI3K e mTOR nas células de um destes pacientes sugere esta via como um alvo promissor para o desenvolvimento de novas abordagens terapêuticas para estes pacientes. Em seguida, na tentativa de desvendar os mecanismos subjacentes aos efeitos metabólicos adversos associados com o uso de antipsicóticos prescritos para o tratamento de pacientes com TEA, investigamos os efeitos destes psicofármacos sobre a biologia do tecido adiposo humano. Foram utilizadas como modelos in vitro células-tronco (ADSCs) e adipócitos maduros derivados de tecido adiposo humano de indivíduos controles. Os resultados obtidos sugerem que a ação direta dos antipsicóticos com alta propensão ao ganho de peso (como a olanzapina e a clozapina) sobre a proliferação, diferenciação, e o metabolismo do tecido adiposo humano parece não constituir um mecanismo importante associado ao ganho de peso apresentado pelos pacientes, e que a ação desses medicamentos sobre os sistemas centrais que regulam o peso e o metabolismo deve ser o mecanismo principal levando aos efeitos metabólicos adversos. Juntos, os resultados gerados neste trabalho podem, de certa forma, contribuir para da farmacoterapia dos TEA / Autism spectrum disorders (ASD) are common neuropsypchiatric disorders, which has serious social and economic impacts. Identification of common molecular and cellular processes altered in patients, despite the underlying genetic heterogeneity, can contribute significantly to our understanding of the disease pathophysiology and can help to develop more effective treatments, since available pharmacotherapy for ASD is inefficient and frequently associated with adverse side effects, such as weight gain and metabolic disturbances. Here, we used patient-derived Stem cells from Human Exfoliated Deciduous teeth (SHEDs) as an intro model system to investigate whether non-syndromic ASD patients show altered regulation of PI3K/mTOR signaling pathway, which is involved in multiple aspects of neuronal development and physiology, and in the pathogenesis of monogenic syndromes that share features with ASD. Our results suggest that dysregulation of PI3K/mTOR-linked networks play an important role in the pathogenesis of a subgroup of non-syndromic ASD. In addition, we found enhanced proliferative capacity in cells with altered PI3K/mTOR activity, which was rescued in one of these patients through combined pharmacological inhibition of both PI3K and mTOR kinase activity, suggesting that PI3K-mTOR signaling is a promising target for the development of new therapeutic approaches for these individuals. Next, in an attempt to better understand the mechanisms underlying the metabolic side effects of the antipsychotics prescribed for ASD treatment, we investigated the effects of some of these drugs on the biology of human adipose tissue using as in vitro model systems human adipose-derived stem cells (ADSCs) and mature adipocytes. Our results suggest that a direct and potent effect of antipsychotics with high weight gain liability (such as clozapine and olanzapine) on cell proliferation, differentiation, and metabolism of human adipose tissue is not an important mechanism by which these drugs induce metabolic disturbances. Consequently, our results suggest that these side effects may mainly reflect the action of these drugs on central pathways involved in weight control and metabolism. Together, our results can, to some extent, contribute to improving pharmacotherapy of ASD

A presente pesquisa tem como objetivo investigar o percurso histórico da classificação psiquiátrica Transtorno do Espectro Autista (TEA). Os deslizamentos taxonômicos desde sua primeira forma, o Autismo Precoce, nas cinco versões de um dos principais sistemas de classificação psiquiátricas utilizados no Brasil, o Manual Diagnóstico e Estatístico de Transtornos Mentais (DSM), trouxeram impactos socioeconômicos, éticos e políticos que merecem ser observados com cautela. Essa nova forma de diagnosticar o autismo não se mostrou nada sutil, uma vez que se trata de uma categoria nosográfica muito abrangente e que trouxe consigo uma epidemia de diagnósticos de TEA. Para alcançar esse objetivo, foram utilizadas as pesquisas bibliográfica e documental. Na discussão final, propomos, com base na investigação realizada, um olhar crítico para a comodificação da psicopatologia denominada TEA / The purpose of this research is to investigate the historical path of the Autism Spectrum Disorder (ASD) psychiatric classification. The nomenclature changes since its initial form, Autism Infantile, contained in the five versions of one of the main psychiatric classification systems used in Brazil, the Diagnostic and Statistical Manual of Mental Disorders (DSM) have generated socio-economic, ethical and political impacts that need be carefully analyzed. This new method of diagnosing autism has proven to be not subtle at all, since it pertains to a very comprehensive nosographic category and which gave rise to an epidemic of ASD diagnoses. In order to meet such purpose, we used bibliographic and documentary researches. In the final discussion we propose, from the investigation conducted, a critical analysis on the commodification of the psychopathology referred to as ASD

Thesis advisor: Marilyn Cochran-Smith / The number of autistic students receiving special education services increased 478% between the years 2000 and 2013 (National Center for Education Statistics, 2016). U.S. schools and teachers are educating more autistic students with complex educational needs resulting from differences in communication, social interaction and behavior. As a result, schools need increasing numbers of teachers who are equipped to educate them. Quality special education teacher preparation is critical for teachers of autistic students, because it can affect the quality of education and outcomes for this highly unique student population. Very little research has been conducted to determine the extent to which special education teacher preparation programs provide teachers with preparation to teach autistic students, or about the extent to which special educators feel prepared to teach this population at the point of conclusion of their preparation programs. This study used a mixed methods sequential explanatory design to examine the perceptions of special educators about their preparedness to teach autistic students based on preparation program/licensure, specialized autism coursework, and on-the-job experiences after licensure programs. A researcher-created survey was followed by interviews to explore participants’ survey responses more deeply. Survey data (n =121) were used to inform both question construction and participant selection for a purposive sample of follow-up interviews (n= 10). Regression analyses, means, summary scores, and thematic coding were employed to analyze the survey data. Results indicated that the majority (77%) of special education teachers felt unprepared to teach autistic students at the end of their licensure programs. However, specialized autism coursework was a significant predictor of teachers’ sense of preparedness. Limitations of the study and implications for special education teacher preparation and education are discussed. / Thesis (PhD) — Boston College, 2017. / Submitted to: Boston College. Lynch School of Education. / Discipline: Teacher Education, Special Education, Curriculum and Instruction.

O Transtorno do Espectro Autista (TEA) é um transtorno neuropsiquiátrico grave caracterizado por comprometimento da capacidade de interação social e comunicação e pela presença de interesses, atividades e comportamentos repetitivos e restritos. O TEA apresenta alta heterogeneidade genética e pode ser enquadrado em diferentes modelos de herança, o que torna difícil apontar os fatores genéticos associados ao transtorno e compreender de que forma eles interagem e ocasionam, em última instância, sua manifestação clínica. Ainda, fenômenos como penetrância incompleta e discordância entre gêmeos monozigóticos são frequentemente observados em famílias com indivíduos afetados, tornando ainda mais complexo o entendimento do envolvimento de cada um dos fatores genéticos na etiologia do TEA. Uma forma de contornar esses problemas é a utilização de abordagens transcriptômicas no estudo desse transtorno. Nesse contexto, a busca por variantes patogênicas deixa de ser o principal foco do estudo e a atenção volta-se para a investigação de vias de sinalização e processos biológicos que estejam desregulados durante o processo de diferenciação neuronal e que sejam compartilhados pelos indivíduos afetados. Usando como principal ferramenta o sequenciamento do transcriptoma de células progenitoras neurais (NPC) e neurônios derivados de células-tronco pluripotentes induzidas (iPSC), identificamos uma série de alterações transcricionais importantes entre pacientes e controles, sugerindo que, a despeito da grande heterogeneidade genética associada ao transtorno, essas alterações se refletem em processos biológicos comuns. Nossos resultados são consistentes com os obtidos em trabalhos anteriores realizados com outros modelos de estudo e as linhagens celulares geradas a partir de nosso protocolo parecem refletir de forma fidedigna o perfil de expressão do cérebro fetal. Ainda, em um caso particular incluído neste estudo, investigamos as consequências transcricionais e funcionais de uma duplicação na região 17p13.3 - alteração previamente implicada em outros casos de autismo - nas células neuronais deste paciente, contribuindo para a compreensão do papel desta duplicação na patofisiologia do TEA. Dessa forma, nosso trabalho reforça a validade do uso de células neurais derivadas de iPSC e de abordagens transcricionais para o estudo de transtornos do neurodesenvolvimento / Autism Spectrum Disorder (ASD) is a severe neuropsychiatry disorder characterized by impaired social interaction and communication, restricted interests and repetitive behaviors. ASD is highly genetically heterogeneous and can be caused by different inheritance models, which hampers the identification of the genetic factors associated to the disorder. Incomplete penetrance and discordance between monozygotic twins are often observed in families of affected individuals, making it even more complex to understand the involvement of genetic factors in ASD. Applying transcriptomic approaches to study this disorder is an interesting way to overcome these problems. In this context, searching for pathogenic variants is no longer the study\'s main focus. Instead, one aims to investigate signaling pathways and biological process that are deregulated during neuronal differentiation and shared by affected individuals. Based on the transcriptome sequencing of neural progenitor cells (NPC) and neurons derived from induced pluripotent stem cells (iPSC), we were able to identify a series of important transcriptional alterations between patients and controls, which suggest that despite the great genetic heterogeneity associated to ASD, those alterations are reflected in common biological processes. Our results are consistent with those obtained in previous studies performed with other models and the lineages generated by our protocol seem to reliably reflect fetal brain expression profile. Moreover, in a particular case included in this study, we investigated transcriptional and functional consequences of a duplication located at 17p13.3 - an alteration previously found in other autism cases - in the neuronal cells of this patient, contributing towards a better comprehension of the role of this duplication in ASD pathophysiology. Hence, our work reinforces the validity of the use of neural cell derived from iPSC and transcriptional approaches in the studies of neurodevelopmental disorders

O transtorno do espectro autista (TEA) é um transtorno de desenvolvimento que prejudica persistentemente a comunicação e a interação social e causa padrões restritos e repetitivos de comportamento, interesses e atividades. Esses sintomas estão presentes desde o início da infância e limitam ou prejudicam o cotidiano do indivíduo. Contudo, vários fatores impedem que seja possível diagnosticar antes dos três anos de idade, entre eles o fato de que o diagnóstico é essencialmente clínico e realizado com base nos critérios descritos no Manual diagnóstico e estatístico de transtornos mentais da sociedade americana de psiquiatria (DSM), entrevistas com os pais, observação do comportamento e aplicação de questionários e escalas padronizadas. Estas ferramentas e questionários para a realização do diagnóstico ainda carecem de validação e adaptação ao contexto brasileiro. O estudo das características antropométricas em indivíduos com TEA e indivíduos em desenvolvimento típico mostrou que podem existir diferenças como distâncias entre as pupilas, formato das orelhas, estrabismo e circunferência da cabeça. A hipótese é que seria possível classificar indivíduos com TEA e indivíduos em desenvolvimento típico com base nas medidas antropométricas faciais. Desta forma, este trabalho teve como objetivo a construção de um classificador que, dada uma imagem facial de uma criança, consiga discriminar entre os dois grupos, auxiliando assim o diagnóstico. A fim de testar a hipótese, foram coletadas imagens bidimensionais de crianças e adolescentes com TEA e em desenvolvimento tipico para a construção de uma base de dados. As imagens foram processadas por meio de um pipeline definido neste trabalho e foram testados e comparados diferentes métodos de redução de dimensionalidade e classificação e como resultado obteve-se acurácia de 80% na classificação com Random Forests / Autism Spectrum Disorder (ASD) is a developmental disorder that persistently impairs communication and social interaction and causes restricted and repetitive patterns of behavior, interests, and activities. These symptoms are present from the beginning of childhood and limit or impair the daily life of the individual. However, several factors prevent it from being possible to diagnose before the age of three, including the fact that the diagnosis is essentially clinical and performed based on the criteria described in the Diagnostic and Statistical Manual of Mental Disorders of the American Psychiatry Association (DSM) , interviews with parents, observation of behavior and application of questionnaires and standardized scales. These tools and questionnaires to carry out the diagnosis still lack validation and adaptation to the brazilian context. The study of anthropometric features in individuals with ASD and individuals in typical development showed that there may be differences such as distances between the pupils, ear format, strabismus and head circumference. The hypothesis is that it would be possible to classify individuals with ASD and individuals in typical development based on anthropometric facial measures. Therefore, this work aimed to construct a classifier that, given a childs facial image, can discriminate between the two groups, thus helping the diagnosis. In order to test the hypothesis, two-dimensional images of children and adolescents with ASD and in typical development were collected for the database construction. The images were processed in a pipeline defined in this work and different methods of dimensionality reduction and classification were tested and compared and as a result 80% accuracy was obtained in the classification with Random Forests algorithm