Aplicabilidade do Rorshach na avaliação psicológica do autismo

This study investigates the applicability of the Rorschach Method for evaluating the personality of people with Autism Spectrum Disorder (ASD).The relevance of this study is justified by the limited number of investigations published in the research literature concerning the use of psychological tests used for evaluating the personality of individuals with ASD. The Rorschach Method was chosen as an appropriate instrument considering it reveals the personality s basic structure, including characteristics of the affectivity, sensuality, inner life, mental resources, psychic energy and general characteristics and intellectual state of the individual. The general objective of this investigation consisted of verifying the applicability of the use the Rorschach Method in the evaluation of the characteristics of people's personality with autism spectrum disorder (ASD).The study also sought to identify perceptive factors of the personality structure of individuals with ASD, provide contributions of the understanding of this syndrome, seeking the establishment of possible therapeutic interventions starting from diagnostic by Rorschach Method. In addition, this investigation aims at verifying the adequacy of using the Rorschach Method as an instrument for evaluating the personality characteristics of individuals with ASD and its possible use in Brazil, starting from preliminary normative results. Participants consisted of 44 youngsters and adults, both genders with age range 14 - 39 years-old (average: 23.5 years-old) distributed in 2 groups. Group 1: composed with 22 youngsters and adults with clinical diagnosis of autism spectrum disorder (communication impairments, social interaction deficits, restricted and repetitive interests and activities); Group 2: composed with 22 youngsters and adults with typical behavior. The participants were paired to gender and age, individually. The Mann-Whitney and Wilcoxon tests were applied to evaluate statistical differences between the groups, considering demographic and social data. The results indicate the presence of restricted interest or difficulty in the expression of the social and affective interaction of people with ASD. However, the need of broader normative studies concerning the use of personality evaluation instruments for people with ASD is warranted. These investigations could help understand the psychic dynamism of this population, offering subsidies that can be added to the current techniques of diagnosis. The Rorschach Method is susceptible to application but it is necessary to respect the individual limitations of these people and to establish more criterions about the spectrum

Correlação entre 6-sulfatoximelatonina, distúrbios do sono e citocinas inflamatórias em Transtornos do Espectro do Autismo (TEA)

Pós-graduação em Fonoaudiologia - FFC

Ensino de operantes verbais e requisitos para ensino por tentativas discretas em crianças com transtorno do espectro autista (TEA)

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Comportamentos de crianças do espectro do autismo com seus pares no contexto de educação musical

O Transtorno do espectro do autismo (TEA) é marcado por prejuízos nas áreas de interação social, comunicação, comportamento e processamento sensorial. Aspectos relacionados a prejuízos no repertório de interação social, bem como estratégias para torná-la mais adequada têm sido amplamente estudados. Dentre estas estratégias, as que utilizam música têm recebido atenção. O presente estudo tem como objetivo investigar os benefícios da educação musical ao desenvolvimento da interação social de crianças com seus pares, focando-se na qualidade e na frequência da apresentação de tais comportamentos. Participaram duas crianças com TEA, com idades de cinco e seis anos, em aulas de percussão em grupo. Os instrumentos utilizados foram a Ficha de dados sociodemográficos e de desenvolvimento, para traçar os perfis dos participantes; e o Protocolo de observação de comportamentos de crianças com TEA com seus pares, para a análise comportamental, durante oito aulas/percussão (240 minutos). Os resultados sugerem que ambos apresentaram tendência ao aumento de iniciativas e respostas espontâneas e à diminuição de comportamentos não funcionais. Verificou-se a ocorrência do uso de estereotipias para tentativas de/e interações, embora esporadicamente. Destacaram-se os papéis do contexto, dos perfis das crianças, e do manejo comportamental por adultos, na promoção de interações.

New computational biology tools for the systematic analysis of the structure and expression of human genes

From the late 1980s, the automation of sequencing techniques and the computer spread gave rise to a flourishing number of new molecular structures and sequences and to proliferation of new databases in which to store them. Here are presented three computational approaches able to analyse the massive amount of publicly avalilable data in order to answer to important biological questions. The first strategy studies the incorrect assignment of the first AUG codon in a messenger RNA (mRNA), due to the incomplete determination of its 5' end sequence. An extension of the mRNA 5' coding region was identified in 477 in human loci, out of all human known mRNAs analysed, using an automated expressed sequence tag (EST)-based approach. Proof-of-concept confirmation was obtained by in vitro cloning and sequencing for GNB2L1, QARS and TDP2 and the consequences for the functional studies are discussed. The second approach analyses the codon bias, the phenomenon in which distinct synonymous codons are used with different frequencies, and, following integration with a gene expression profile, estimates the total number of codons present across all the expressed mRNAs (named here "codonome value") in a given biological condition. Systematic analyses across different pathological and normal human tissues and multiple species shows a surprisingly tight correlation between the codon bias and the codonome bias. The third approach is useful to studies the expression of human autism spectrum disorder (ASD) implicated genes. ASD implicated genes sharing microRNA response elements (MREs) for the same microRNA are co-expressed in brain samples from healthy and ASD affected individuals. The different expression of a recently identified long non coding RNA which have four MREs for the same microRNA could disrupt the equilibrium in this network, but further analyses and experiments are needed.

Characterization of the Caspr2 and NLGN2 ligands: a proteomic and biochemical approach

Autism Spectrum Disorder (ASD) is a range of early-onset conditions classified as neurodevelopmental disorders, characterized by deficits in social interactions and communication, as well as by restricted interest and repetitive behaviors. Among the proteins associated with this spectrum of disease there are Caspr2, α-NRXN1, NLGN1-4. Caspr2 is involved in the clustering of K+ channels at the juxtaparanodes, where it is proposed to bind TAG-1. Recent works reported a synaptic localization of Caspr2, but little is know on its role in this compartment. NRXNs and their ligand NLGNs, instead, have a well-defined role in the formation and maintenance of synapses. Among the neuroligins, NLGN2 binds NRXNs with the lowest affinity, suggesting that it could have other not yet characterized ligands. The aim of this work was to better characterize the binding of Caspr2 to TAG-1 and to identify new potential binding partner for Caspr2 and NLGN2. Unexpectedly, using Isothermal Titration Calorimetry and co-immunoprecipitation experiments the direct association of the first two proteins could not be verified and the results indicate that the first evidences reporting it were biased by false-positive artifacts. These findings, together with the uncharacterized synaptic localization of Caspr2, made the identification of new potential binding partners for this protein necessary. To find new proteins that associate with Caspr2 and NLGN2, affinity chromatography in tandem with mass spectrometry experiments were performed. Interestingly, about 25 new potential partners were found for these two proteins and NLGN1, that was originally included as a control: 5 of those, namely SFRP1, CLU, APOE, CNTN1 and TNR, were selected for further investigations. Only the association of CLU to NLGN2 was confirmed. In the future, screenings of the remaining candidates have to be carried out and the functional role for the proposed NLGN2-CLU complex has to be studied.

Thinner cortex in the frontal lobes in mentally disordered offenders

Antisocial and violent behaviour have been associated with both structural and functional brain abnormalities in the frontal and the temporal lobes. The aim of the present study was to assess cortical thickness in offenders undergoing forensic psychiatric assessments, one group with psychopathy (PSY, n=7) and one group with autism spectrum disorder (ASD, n=7) compared to each other as well as to a reference group consisting of healthy non-criminal subjects (RG, n=12). A second aim was to assess correlation between scores on a psychopathy checklist (PCL-SV) and cortical thickness. Magnetic resonance imaging (MRI) and surface-based cortical segmentation were used to calculate cortical thickness. Analyses used both regions of interest and statistical maps. When the two groups of offenders were compared, there were no differences in cortical thickness, but the PSY group had thinner cortex in the temporal lobes and in the whole right hemisphere compared to RG. There were no differences in cortical thickness between the ASD group and RG. Across subjects there was a negative correlation between PCL-SV scores and cortical thickness in the temporal lobes and the whole right hemisphere. The findings indicate that thinner cortex in the temporal lobes is present in psychopathic offenders and that these regions are important for the expression of psychopathy. However, whether thinner temporal cortex is a cause or a consequence of the antisocial behaviour is still unknown.

Social Cognition, Face Processing, and Oxytocin Receptor Single Nucleotide Polymorphisms in Typically Developing Children

Recent research has provided evidence of a link between behavioral measures of social cognition (SC) and neural and genetic correlates. Differences in face processing and variations in the oxytocin receptor (OXTR) gene have been associated with SC deficits and autism spectrum disorder (ASD) traits. Much work has examined the qualitative differences between those with ASD and typically developing (TD) individuals, but very little has been done to quantify the natural variation in ASD-like traits in the typical population. The present study examines this variation in TD children using a multidimensional perspective involving behavior assessment, neural electroencephalogram (EEG) testing, and OXTR genotyping. Children completed a series of neurocognitive assessments, provided saliva samples for sequencing, and completed a face processing task while connected to an EEG. No clear pattern emerged for EEG covariates or genotypes for individual OXTR single nucleotide polymorphisms (SNPs). However, SNPs rs2254298 and rs53576 consistently interacted such that the AG/GG allele combination of these SNPs was associated with poorer performance on neurocognitive measures. These results suggest that neither SNP in isolation is risk-conferring, but rather that the combination of rs2254298(A/G) and rs53576(G/G) confers a deleterious effect on SC across several neurocognitive measures. Copyright 2014. Published by Elsevier Ltd.

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

BACKGROUND: The recurrent ~600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders. OBJECTIVE: To define the medical, neuropsychological, and behavioural phenotypes in carriers of this deletion. METHODS: We collected clinical data on 285 deletion carriers and performed detailed evaluations on 72 carriers and 68 intrafamilial non-carrier controls. RESULTS: When compared to intrafamilial controls, full scale intelligence quotient (FSIQ) is two standard deviations lower in carriers, and there is no difference between carriers referred for neurodevelopmental disorders and carriers identified through cascade family testing. Verbal IQ (mean 74) is lower than non-verbal IQ (mean 83) and a majority of carriers require speech therapy. Over 80% of individuals exhibit psychiatric disorders including ASD, which is present in 15% of the paediatric carriers. Increase in head circumference (HC) during infancy is similar to the HC and brain growth patterns observed in idiopathic ASD. Obesity, a major comorbidity present in 50% of the carriers by the age of 7 years, does not correlate with FSIQ or any behavioural trait. Seizures are present in 24% of carriers and occur independently of other symptoms. Malformations are infrequently found, confirming only a few of the previously reported associations. CONCLUSIONS: The 16p11.2 deletion impacts in a quantitative and independent manner FSIQ, behaviour and body mass index, possibly through direct influences on neural circuitry. Although non-specific, these features are clinically significant and reproducible. Lastly, this study demonstrates the necessity of studying large patient cohorts ascertained through multiple methods to characterise the clinical consequences of rare variants involved in common diseases.

A influência do cão na expressividade emocional de crianças com transtorno do espectro do autismo

O Transtorno do Espectro do Autismo (TEA) inclui um conjunto de sintomas, tais como dificuldade para sustentar contato visual direto e comprometimento da linguagem. Apesar da Terapia Assistida Por Animais (TAA) com cães ser considerada uma modalidade terapêutica eficaz para promover o desenvolvimento de pessoas com TEA, ainda não são se sabe quais características dos cães possibilitam alcançar sucesso na terapia. Esta análise quantitativa tem como objetivo verificar o impacto de abordagens laterais e frontais de cães e humanos nas expressões emocionais de alegria e rejeição de crianças com TEA. Através da análise de vídeos de TAA, foram mensuradas duração e frequência das abordagens laterais e frontais de cães e humanos dirigidas às crianças para comparar possíveis diferenças entre ambos e também para verificar se a abordagem escolhida afetava o tipo de expressão emocional exibida pela criança. Os participantes deste projeto foram 11 crianças, 8 do sexo masculino e 3 do sexo feminino, entre 5 e 11 anos. Seis crianças foram atendidas por uma psicóloga, uma condutora e um Border Collie. O segundo grupo era composto pela mesma psicóloga, uma condutora e uma Golden Retriever. Escalas de avaliação foram aplicadas para confirmar o diagnóstico de TEA. Os cães foram previamente avaliados e treinados por uma instituição que atua na área de TAA. Cinco minutos de 8 sessões foram analisadas: um bloco de seis sessões com o cão, uma sessão anterior e uma sessão posterior a este bloco. Para verificar possíveis diferenças temperamentais entre cães, o C-barq (Canine Behavioral Assesment & Research Questionnaire) foi aplicado para analisar o temperamento de ambos. Embora esta análise tenha demonstrado diferenças em relação às categorias busca de atenção e nível de energia dos cães, não foram verificadas diferenças estatísticas entre os cães, em relação às variáveis analisadas neste estudo. Na comparação entre cães e humanos, os cães foram mais efetivos para conseguir expressões de alegria independentemente do tipo de abordagem escolhida. Comparando-se o tempo de abordagem de cães e humanos até obterem expressão emocional das crianças, observou-se uma importante diferença estatística. Os resultados sugerem que os cães exibiram menor latência que humanos para todas expressões emocionais analisadas: alegria (2= 7,312, p=0,007), de rejeição (2= 11,277, p-0,001) e neutras (2=9,097, p=0,043). Além disso, os resultados sugerem que, no contexto da TAA, não há relação entre abordagem lateral ou frontal e expressões de alegria, rejeição ou neutras de crianças com TEA. As expressões de alegria foram mais frequentes diante das abordagens laterais dos cães do que das abordagens frontais, no entanto não foi verificada significância estatística. Em relação aos humanos também não foi verificada preferência por uma abordagem especifica. Assim, os resultados sugerem que a latência para a exibição de uma expressão emocional das crianças depende mais de quem aborda do que do posicionamento lateral ou frontal quando a abordagem é realizada

Proyecto FIRST (Flexible Interactive Reading Support Tool): desarrollo de una herramienta para ayudar a personas con autismo mediante la simplificación de textos

El Trastorno de Espectro Autista (TEA) es un trastorno que impide el correcto desarrollo de funciones cognitivas, habilidades sociales y comunicativas en las personas. Un porcentaje significativo de personas con autismo presentan además dificultades en la comprensión lectora. El proyecto europeo FIRST está orientado a desarrollar una herramienta multilingüe llamada Open Book que utiliza Tecnologías del Lenguaje Humano para identificar obstáculos que dificultan la comprensión lectora de un documento. La herramienta ayuda a cuidadores y personas con autismo transformando documentos escritos a un formato más sencillo mediante la eliminación de dichos obstáculos identificados en el texto. En este artículo se presenta el proyecto FIRST así como la herramienta desarrollada Open Book.

Trouble du spectre de l’autisme : Une agentivité morale objective, rigoriste et émotionnelle

Article

Effects of Training and E-Mail Feedback on Behavior Therapists' Use of Instructive Feedback

Thesis (Ph.D.)--University of Washington, 2016-06

A criança com transtorno do espectro autista (TEA) e o professor: uma proposta de intervenção baseada na experiência de aprendizagem mediada (EAM)

The presence of students with Autism Spectrum Disorder (ASD) in regular schools has increased and with it, the need to develop interventional strategies that enhance their learning. One of the tools that can facilitate this process is Mediated Learning, defined as an interaction style where the teacher selects, modifies, enhances, and interprets environmental stimuli in order to promote student learning. In recent years several studies have used the Mediated Learning Experience Scale (MLE; Lidz, 1991) as a tool to assess the mediator behavior. These studies have suggested that the EAM Scale can provide important guidelines for planning educational interventions, particularly those involving students with special needs. In order to extend these findings, this study aimed to evaluate the effects of an intervention based on the Mediated Learning Experience on social / academic skills of a child with ASD, enrolled in the 4th grade of a regular elementary school. This collaborative study was held in the city of Parnamirim, state of Rio Grande do Norte, in 2014. A 9-year old boy with ASD and his teacher participated in the study. The research used a quasi-experimental A-B design (baseline and treatment) to evaluate the teacher's behavior. Qualitative procedures were also used to analyze the dyad´s responses. Teacher and student behaviors were observed in three school routines during baseline. Based on the results of this phase, a training program was designed for the teacher. Dyad behavior was analyzed again after training in the same routines. The results of this phase showed qualitative and quantitative changes in levels of teacher mediation. Additionally, data indicated that the child enhanced his social and academic skills during the intervention.