A presença de alunos autistas em salas regulares, a aprendizagem de ciências e a alfabetização científica: percepções de professores a partir de uma pesquisa fenomenológica

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

A presença de alunos autistas em salas regulares, a aprendizagem de ciências e a alfabetização científica: percepções de professores a partir de uma pesquisa fenomenológica

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Altered Neurotrophin, Neuropeptide, Cytokines and Nitric Oxide Levels in Autism

Introduction: Modifications in neurotrophins, neuropeptides, cytokines and nitric oxide (NO) levels in autism may represent different biological aspects of the disease. In the present study we investigate simultaneously all these variables as an attempt to clarify their interrelationships in autism. Methods: Plasma levels of vasoactive intestinal peptide (VIP), neurotrophin-3 (NT-3), cytokines and nitric oxide (NO) were determined in children with DSM-IV autistic disorder (n = 24) and in age- and gender-matched healthy controls (n = 24). VIP, NT-3, IFN-gamma and IL-1 beta levels were measured by ELISA, TNF-alpha, IL-10, IL-6, IL-4, IL-2 were evaluated by flow cytometry, and NO by Griess reaction. Results: Plasma levels of VIP, IFN-gamma and NO were significantly higher and NT-3 plasma levels were significantly lower in children with autism, compared to the healthy subjects. In children with autism there was a positive correlation between plasma levels of NO and IFN-gamma. Discussion: Our results indicate the presence of altered levels of neurotrophin and neuropeptide in infantile autism and provide additional evidence that higher levels of IFN-gamma may be associated with increased oxidative stress in autism.

Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency

We describe a novel chromosome microdeletion at 15q26.1 detected by oligo-array-CGH in a 6-year-old girl presenting with global development delay, epilepsy, autistic behavior and facial dysmorphisms. Although these features are often present in Angelman syndrome, no alterations were present in the methylation pattern of the Prader-Willi-Angelman critical region. The deletion encompasses only 2 genes: CHD2, which is part of a gene family already involved in CHARGE syndrome, and RGMA which exerts a negative control on axon growth. Deletion of either or both genes could cause the phenotype of this patient. These results provide a further chromosome region requiring evaluation in patients presenting Angelman features. (C) 2011 Elsevier Masson SAS. All rights reserved.

The biopsychosocial processes in autism spectrum disorder

Abstract Background Autism is a disorder characterized by pervasive social and communicative impairments, repetitive and stereotyped behaviors and restricted interests. Its causes and effects have been researched from various neurocognitive theoretical perspectives and with the aid of neuroimaging technology. We aimed to describe biopsychosocial processes characteristic of the Autism Spectrum Disorders. Method Literature review using Medline and Scopus databases published between 2001 and 2011, with the keywords "autism", "theory of mind", "executive functions", "central coherence" and “fMRI”. Results The studies found were plotted and organized into tables and an explanatory diagram of the main findings was produced. Conclusions The most popular neurocognitive theories are still unable to fully explain the characteristics of the complications that autistic spectrum disorder causes to the quality of life of individuals living with autism. The association of clinical research and neuroimaging may contribute to a better understanding of the functioning of the brain affected by the disorder.

Questionário sobre dificuldades comunicativas percebidas por pais de crianças do espectro do autismo

OBJETIVO: Elaborar um questionário para o levantamento de dificuldades comunicativas percebidas por pais e/ou cuidadores de crianças do espectro do autismo em relação a seus filhos. MÉTODOS: Os aspectos específicos abordados no questionário foram identificados a partir da literatura e da experiência clínica das autoras em dois serviços especializados. As questões foram organizadas segundo diferentes domínios e as respostas registradas numa escala tipo Likert. Foi realizado um estudo piloto com 40 pais, 20 pais de crianças do espectro do autismo e 20 pais de crianças sem queixas de linguagem, como forma de verificar a aplicabilidade do questionário construído e sua utilidade na identificação de dificuldades específicas da população alvo. Foi calculado o nível de concordância das questões e os resultados dos grupos foram comparados entre si (teste t Student). RESULTADOS: O questionário foi desenvolvido de maneira a abranger aspectos fundamentais para o relacionamento interpessoal, tanto no âmbito comunicativo quanto social. Foi dividido em 24 questões fechadas que abrangem quatro domínios; e uma questão aberta, com espaço para que os pais relatassem algo relevante e que não tenha sido perguntado. O estudo possibilitou testar a compreensão do instrumento e a análise estatística indicou que 19 questões apresentaram diferença. CONCLUSÃO: O questionário elaborado identificou diferenças na percepção e atitude de pais de crianças do espectro do autismo e de crianças sem queixa de linguagem, em relação às dificuldades de comunicação com seus filhos. Dessa forma, mostrou-se útil para o levantamento dessas dificuldades em um grupo maior de indivíduos.

Functional Communication Profile - Revised: uma proposta de caracterização objetiva de crianças e adolescentes do espectro do autismo

OBJETIVO: Caracterizar objetivamente as alterações de crianças e adolescentes incluídos no espectro do autismo de acordo com o grau de severidade definido a partir das respostas ao Functional Communication Profile - Revised (FCP-R). MÉTODOS: Foram selecionadas 50 crianças (idade média 7 anos e 11 meses) com diagnósticos no espectro do autismo que foram avaliados segundo os critérios do FCP-R. As respostas obtidas foram pontuadas e classificadas de acordo com a severidade e realizada análise estatística pertinente. RESULTADOS: A caracterização dessa população evidenciou dados concordantes com a literatura, mostrando prejuízos nas áreas de linguagem (expressiva e receptiva), comportamento e pragmática, principalmente. Os indivíduos que não possuem habilidades verbais evidenciaram, ainda, alterações referentes aos domínios fala e fluência. CONCLUSÃO: O FCP-R foi sensível para caracterizar a população estudada, mostrando-se ainda mais eficaz para a avaliação individualizada.

Comparação dos instrumentos Childhood Autism Rating Scale e Autism Behavior Checklist na identificação e caracterização de indivíduos com distúrbios do espectro autístico

OBJETIVO: Comparar as respostas dos instrumentos Childhood Autism Rating Scale e Autism Behavior Checklist na identificação e caracterização de indivíduos com Distúrbios do Espectro Autístico. MÉTODOS: Participaram 28 indivíduos que estavam em atendimento fonoaudiológico e possuíam diagnósticos inseridos no Espectro do Autismo. Todos foram avaliados por meio dos instrumentos Autism Behavior Checklist e Childhood Autism Rating Scale a partir de informações obtidas, respectivamente, com pais e terapeutas. Os dados foram analisados estatisticamente em relação à concordância das respostas obtidas. Foram considerados concordantes os resultados de alta ou moderada probabilidade para autismo no Autism Behavior Checklist e com autismo leve-moderado ou grave na Childhood Autism Rating Scale, e respostas de baixa probabilidade no Autism Behavior Checklist e sem autismo na Childhood Autism Rating Scale. RESULTADOS: Houve concordância na maior parte das respostas obtidas. Casos em que houve discordância entre os resultados obtidos a partir dos protocolos corroboram dados da literatura, evidenciando que os instrumentos podem não ser suficientes, quando aplicados isoladamente para a definição do diagnóstico. CONCLUSÃO: Enquanto a Childhood Autism Rating Scale pode não diagnosticar crianças efetivamente autistas, o Autism Behavior Checklist pode incluir como autistas, crianças com outros distúrbios. Portanto, recomenda-se o uso complementar dos dois instrumentos.

La sorpresa come fattore critico indicatore di sintonizzazione emotiva in bambini normali e con disturbi pervasivi dello sviluppo

The topic of this study is surprise, re gard as an evolutionary complex process, with manifold implication in different fields, from neurological, since aspecific correlate of surprise exist more or less at every level of neuronal processes (e.g. Rao e Ballard, 1999.), to behavioral , inasmuch a s our ability to quickly valuate(assess), recognize and learn from surprising events, are be regarded as pivotal for survival (e.g. Ranganath e Rainer, 2003). In particular this work, going from belief that surprise is really a psychoevolutive mechanism of primary relevance, has the objective to investigate if there may be a substantial connection between development of surprise' emotion and specific developmental problems, or, if in subjects with pervasive developmental disorders surprise may embody (represent) a essential mechanism of emotional tuning, and consequently if abnormalities in such process may be at the base of at least a part of cognitive and behavioural problems that determine (describe) this pathology. Theoretical reasons lead us to conside r this particular pathologic condition, recall to a broad area of research concern the comprehension of belief as marker of ability to reasons about mental states of others (i.e. Theory of Mind), and in addition, at the detection of specific subjects' diff iculty in this field. On the experimental side, as well as limited of this work, we have to compare comprehension and expression of surprise in a sample of 21 children with pervasive developmental disorders (PDD), with a sample of 35 children without deve lopmental problems, in a range of age 3-12. Method After the customary approach to become friendly with the child, an experimenter and an accomplice showed three boxes of nuts, easily to distinguish one from the other because of their different colours an d , working together with the child, the contents of one of the boxes were replaced and a different material (macaroni, pebbles) was put in the box. for the purpose of preparing a surprise for someone. At this stage, the accomplice excused himself/herself and left and the experimenter suggested to the child that he prepare another surprise, replacing the contents in the second box. When the accomplice came back, the child was asked to prepare a surprise for him by picking out the box that he thought was the right one for the purpose. After, and the child doesn't know it, the accomplice change the content of one of the boxes with candies and asked out to the children to open the box, in order to see if he show surprise. Result Date have obtain a significant difference between autistic and normal group, in all four tests. The expression of surprise too, is present in significantly lower degree in autistic group than in control group. Moreover, autistic children do not provide appropriate metarappresentative explanations. Conclusion Our outcome, with knowledge of the limit of our investigation at an experimental level (low number of the champions, no possibility of video registration to firm the expressions ) orient to consider eventuality that surprise, may be seen as relevant component, or indicative, in autistic spectrum disorders.

Analisi di “Copy Number Variants” ed identificazione di nuovi geni candidati per l’Autismo e Ritardo Mentale

I disturbi dello spettro autistico (DSA) ed il ritardo mentale (RM) sono caratterizzati da un’eziologia genetica complessa ed eterogenea. Grazie ai recenti sviluppi nella ricerca genomica, è stato possibile dimostrare il ruolo di numerose copy number variants (CNVs) nella patogenesi di questi disturbi, anche se nella maggior parte dei casi l’eziologia rimane ancora sconosciuta. Questo lavoro riguarda l’identificazione e la caratterizzazione dei CNVs in famiglie con DSA e RM. E’ stata studiata una microdelezione in 7q31 che coinvolge i geni IMMP2L e DOCK4, trasmessa dalla madre con dislessia a due figli con autismo ed una figlia con dislessia. Nella stessa famiglia segrega una seconda microdelezione in 2q14 che inattiva il gene CNTNAP5 ed è trasmessa dal padre (con tratti autistici) ai due figli con autismo. Abbiamo quindi ipotizzato che i geni DOCK4 e CNTNAP5 potessero essere implicati, rispettivamente, nella suscettibilità a dislessia e DSA. Lo screening di numerosi individui affetti ha supportato la nostra ipotesi, con l’identificazione di una nuova microdelezione di DOCK4 che segrega con la dislessia, e 3 nuove varianti missenso in CNTNAP5 in individui con autismo. Dall’analisi genomica comparativa su array (aCGH) di individui con RM, è stata identificata una delezione nella regione 7q31.32, che coinvolge il gene CADPS2, in due fratelli con RM e tratti autistici, probabilmente ereditata dalla madre. Lo screening di mutazione di questo gene in individui con autismo o RM, ha portato all’identificazione di 3 varianti non sinonime, assenti nei controlli, ed ereditate per via materna. Poiché CADPS2 risiede in una regione genomica che contiene loci soggetti ad imprinting, abbiamo ipotizzato che il gene CADPS2 possa essere anch’esso caratterizzato da imprinting, con espressione monoallelica materna. Lo studio di espressione di CADPS2 in cellule del sangue ha avvalorato questa ipotesi, implicando perciò CADPS2 come un nuovo gene di suscettibilità per il RM e DSA.

The biological basis of autism spectrum disorders: evaluation of oxidative stress and erytrocyte membrane alterations

This case-control study involved a total of 29 autistic children (Au) aged 6 to 12 years, and 28 gender and age-matched typically developing children (TD). We evaluated a high number of peripheral oxidative stress parameters, erythrocyte and lymphocyte membrane functional features and membrane lipid composition of erythrocyte. Erythrocyte TBARS, Peroxiredoxin II, Protein Carbonyl Groups and urinary HEL and isoprostane levels were elevated in AU (confirming an imbalance of the redox status of Au); other oxidative stress markers or associated parameters (urinary 8-oxo-dG, plasma Total antioxidant capacity and plasma carbonyl groups, erythrocyte SOD and catalase activities) were unchanged, whilst peroxiredoxin I showed a trend of elevated levels in red blood cells of Au children. A very significant reduction of both erythrocyte and lymphocyte Na+, K+-ATPase activity (NKA), a reduction of erythrocyte membrane fluidity, a reduction of phospatydyl serine exposition on erythrocyte membranes, an alteration in erythrocyte fatty acid membrane profile (increase in MUFA and in ω6/ω3 ratio due to decrease in EPA and DHA) and a reduction of cholesterol content of erythrocyte membrane were found in Au compared to TD, without change in erythrocyte membrane sialic acid content and in lymphocyte membrane fluidity. Some Au clinical features appear to be correlated with these findings; in particular, hyperactivity score appears to be related with some parameters of the lipidomic profile and membrane fluidity, and ADOS and CARS score are inversely related to peroxiredoxin II levels. Oxidative stress and erythrocyte structural and functional alterations may play a role in the pathogenesis of Autism Spectrum Disorders and could be potentially utilized as peripheral biomarkers.

Developmental Brain Dysfunction: Revival and Expansion of Old Concepts Based on New Genetic Evidence

Neurodevelopmental disorders can be caused by many different genetic abnormalities that are individually rare but collectively common. Specific genetic causes, including certain copy number variants and single-gene mutations, are shared among disorders that are thought to be clinically distinct. This evidence of variability in the clinical manifestations of individual genetic variants and sharing of genetic causes among clinically distinct brain disorders is consistent with the concept of developmental brain dysfunction, a term we use to describe the abnormal brain function underlying a group of neurodevelopmental and neuropsychiatric disorders and to encompass a subset of various clinical diagnoses. Although many pathogenic genetic variants are currently thought to be variably penetrant, we hypothesise that when disorders encompassed by developmental brain dysfunction are considered as a group, the penetrance will approach 100%. The penetrance is also predicted to approach 100% when the phenotype being considered is a specific trait, such as intelligence or autistic-like social impairment, and the trait could be assessed using a continuous, quantitative measure to compare probands with non-carrier family members rather than a qualitative, dichotomous trait and comparing probands with the healthy population. Copyright 2013 Elsevier Ltd. All rights reserved.

Seeing Spaces: An Eye-Tracking Study Of Speech Segmentation

Speech is often a multimodal process, presented audiovisually through a talking face. One area of speech perception influenced by visual speech is speech segmentation, or the process of breaking a stream of speech into individual words. Mitchel and Weiss (2013) demonstrated that a talking face contains specific cues to word boundaries and that subjects can correctly segment a speech stream when given a silent video of a speaker. The current study expanded upon these results, using an eye tracker to identify highly attended facial features of the audiovisual display used in Mitchel and Weiss (2013). In Experiment 1, subjects were found to spend the most time watching the eyes and mouth, with a trend suggesting that the mouth was viewed more than the eyes. Although subjects displayed significant learning of word boundaries, performance was not correlated with gaze duration on any individual feature, nor was performance correlated with a behavioral measure of autistic-like traits. However, trends suggested that as autistic-like traits increased, gaze duration of the mouth increased and gaze duration of the eyes decreased, similar to significant trends seen in autistic populations (Boratston & Blakemore, 2007). In Experiment 2, the same video was modified so that a black bar covered the eyes or mouth. Both videos elicited learning of word boundaries that was equivalent to that seen in the first experiment. Again, no correlations were found between segmentation performance and SRS scores in either condition. These results, taken with those in Experiment, suggest that neither the eyes nor mouth are critical to speech segmentation and that perhaps more global head movements indicate word boundaries (see Graf, Cosatto, Strom, & Huang, 2002). Future work will elucidate the contribution of individual features relative to global head movements, as well as extend these results to additional types of speech tasks.

Examining The Genetic, Social-Cognitive, And Neural Correlates Of Autism Spectrum Disorder Behaviors In Typically Developing Chi

Autism spectrum disorders (ASD) are pervasive developmental disorders that affect approximately 1 in 50 children (Blumberg et al., 2013). Due to the social nature of the deficits that characterize the disorders, many have classified them as disorders of social cognition, which is the process that individuals use in order to successfully interact with members of their own species (Frith & Frith, 2007). Previous research has typically neglected the spectrum nature of ASD in favor of a more categorical approach of ¿autistic¿ versus ¿non-autistic,¿ but the spectrum requires a more continuous approach. Thus, the present study sought to examine the genetic, social-cognitive, and neural correlates of ASD-like traits as well as the relationship between these dimensions in typically developing children. Parents and children completed several quantitative measures examining several areas of social-cognitive functioning, including theory of mind and social functioning, restricted/repetitive behaviors and interests, and adaptive/maladaptive functioning. Children were also asked to undergo an EEG and both parents and children contributed a saliva sample that was used to sequence four single nucleotide polymorphisms (SNPs) of the OXTR gene, rs1042778, rs53576, rs2254298, and rs237897. We successfully demonstrated a significant relationship between behavioral measures of social-cognition and differences in face perception via the N170. However, the directionality of these relationships varied based on the behavioral measure and particular N170 difference scores. We also found support for the associations between the G_G allelic combination of rs1042778 and the A_A and A_G allelic combinations of rs2254298 and increased ASD-like behavior with decreased social-cognitive functioning. In contrast, our results contradict previous findings with rs237897 and imply that individuals with the A_A and A_G genotypes are less similar to those with ASD and have higher social cognitive functioning than those with the G_G genotype. In conclusion, we have demonstrated the existence of ASD-like traits in typically developing children and have shown a link between behavioral, genetic, and neural correlates of social-cognition. These findings demonstrate the importance of considering autism as a spectrum disorder and provide support for the move to a more continuous approach to neurodevelopmental disorders.

Functional imbalance of visual pathways indicates alternative face processing strategies in autism

OBJECTIVE: To investigate whether autistic subjects show a different pattern of neural activity than healthy individuals during processing of faces and complex patterns. METHODS: Blood oxygen level-dependent (BOLD) signal changes accompanying visual processing of faces and complex patterns were analyzed in an autistic group (n = 7; 25.3 [6.9] years) and a control group (n = 7; 27.7 [7.8] years). RESULTS: Compared with unaffected subjects, autistic subjects demonstrated lower BOLD signals in the fusiform gyrus, most prominently during face processing, and higher signals in the more object-related medial occipital gyrus. Further signal increases in autistic subjects vs controls were found in regions highly important for visual search: the superior parietal lobule and the medial frontal gyrus, where the frontal eye fields are located. CONCLUSIONS: The cortical activation pattern during face processing indicates deficits in the face-specific regions, with higher activations in regions involved in visual search. These findings reflect different strategies for visual processing, supporting models that propose a predisposition to local rather than global modes of information processing in autism.