944 resultados para High-Functioning ASD


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La capacité du système visuel humain à compléter une image partiellement dévoilée et à en dériver une forme globale à partir de ses fragments visibles incomplets est un phénomène qui suscite, jusqu’à nos jours, l’intérêt de nombreux scientifiques œuvrant dans différents milieux de recherche tels que l’informatique, l’ingénierie en intelligence artificielle, la perception et les neurosciences. Dans le cadre de la présente thèse, nous nous sommes intéressés spécifiquement sur les substrats neuronaux associés à ce phénomène de clôture perceptive. La thèse actuelle a donc pour objectif général d’explorer le décours spatio-temporel des corrélats neuronaux associés à la clôture perceptive au cours d’une tâche d’identification d’objets. Dans un premier temps, le premier article visera à caractériser la signature électrophysiologique liée à la clôture perceptive chez des personnes à développement typique dans le but de déterminer si les processus de clôture perceptive reflèteraient l’interaction itérative entre les mécanismes de bas et de haut-niveau et si ceux-ci seraient sollicités à une étape précoce ou tardive lors du traitement visuel de l’information. Dans un deuxième temps, le second article a pour objectif d’explorer le décours spatio-temporel des mécanismes neuronaux sous-tendant la clôture perceptive dans le but de déterminer si les processus de clôture perceptive des personnes présentant un trouble autistique se caractérisent par une signature idiosyncrasique des changements d’amplitude des potentiels évoqués (PÉs). En d’autres termes, nous cherchons à déterminer si la clôture perceptive en autisme est atypique et nécessiterait davantage la contribution des mécanismes de bas-niveau et/ou de haut-niveau. Les résultats du premier article indiquent que le phénomène de clôture perceptive est associé temporellement à l’occurrence de la composante de PÉs N80 et P160 tel que révélé par des différences significatives claires entre des objets et des versions méconnaissables brouillées. Nous proposons enfin que la clôture perceptive s’avère un processus de transition reflétant les interactions proactives entre les mécanismes neuronaux œuvrant à apparier l’input sensoriel fragmenté à une représentation d’objets en mémoire plausible. Les résultats du second article révèlent des effets précoces de fragmentation et d’identification obtenus au niveau de composantes de potentiels évoqués N80 et P160 et ce, en toute absence d’effets au niveau des composantes tardives pour les individus avec autisme de haut niveau et avec syndrome d’Asperger. Pour ces deux groupes du trouble du spectre autistique, les données électrophysiologiques suggèrent qu’il n’y aurait pas de pré-activation graduelle de l’activité des régions corticales, entre autres frontales, aux moments précédant et menant vers l’identification d’objets fragmentés. Pour les participants autistes et avec syndrome d’Asperger, les analyses statistiques démontrent d’ailleurs une plus importante activation au niveau des régions postérieures alors que les individus à développement typique démontrent une activation plus élevée au niveau antérieur. Ces résultats pourraient suggérer que les personnes du spectre autistique se fient davantage aux processus perceptifs de bas-niveau pour parvenir à compléter les images d’objets fragmentés. Ainsi, lorsque confrontés aux images d’objets partiellement visibles pouvant sembler ambiguës, les individus avec autisme pourraient démontrer plus de difficultés à générer de multiples prédictions au sujet de l’identité d’un objet qu’ils perçoivent. Les implications théoriques et cliniques, les limites et perspectives futures de ces résultats sont discutées.

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Genetic studies of autism spectrum conditions (ASC) have mostly focused on the "low functioning" severe clinical subgroup, treating it as a rare disorder. However, ASC is now thought to be relatively common ( approximately 1%), and representing one end of a quasi-normal distribution of autistic traits in the general population. Here we report a study of common genetic variation in candidate genes associated with autistic traits and Asperger syndrome (AS). We tested single nucleotide polymorphisms in 68 candidate genes in three functional groups (sex steroid synthesis/transport, neural connectivity, and social-emotional responsivity) in two experiments. These were (a) an association study of relevant behavioral traits (the Empathy Quotient (EQ), the Autism Spectrum Quotient (AQ)) in a population sample (n=349); and (b) a case-control association study on a sample of people with AS, a "high-functioning" subgroup of ASC (n=174). 27 genes showed a nominally significant association with autistic traits and/or ASC diagnosis. Of these, 19 genes showed nominally significant association with AQ/EQ. In the sex steroid group, this included ESR2 and CYP11B1. In the neural connectivity group, this included HOXA1, NTRK1, and NLGN4X. In the socio-responsivity behavior group, this included MAOB, AVPR1B, and WFS1. Fourteen genes showed nominally significant association with AS. In the sex steroid group, this included CYP17A1 and CYP19A1. In the socio-emotional behavior group, this included OXT. Six genes were nominally associated in both experiments, providing a partial replication. Eleven genes survived family wise error rate (FWER) correction using permutations across both experiments, which is greater than would be expected by chance. CYP11B1 and NTRK1 emerged as significantly associated genes in both experiments, after FWER correction (P<0.05). This is the first candidate-gene association study of AS and of autistic traits. The most promising candidate genes require independent replication and fine mapping.

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Molecular and behavioural evidence points to an association between sex-steroid hormones and autism spectrum conditions (ASC) and/or autistic traits. Prenatal androgen levels are associated with autistic traits, and several genes involved in steroidogenesis are associated with autism, Asperger Syndrome and/or autistic traits. Furthermore, higher rates of androgen-related conditions (such as Polycystic Ovary Syndrome, hirsutism, acne and hormone-related cancers) are reported in women with autism spectrum conditions. A key question therefore is if serum levels of gonadal and adrenal sex-steroids (particularly testosterone, estradiol, dehydroepiandrosterone sulfate and androstenedione) are elevated in individuals with ASC. This was tested in a total sample of n=166 participants. The final eligible sample for hormone analysis comprised n=128 participants, n=58 of whom had a diagnosis of Asperger Syndrome or high functioning autism (33 males and 25 females) and n=70 of whom were age- and IQ-matched typical controls (39 males and 31 females). ASC diagnosis (without any interaction with sex) strongly predicted androstenedione levels (p<0.01), and serum androstenedione levels were significantly elevated in the ASC group (Mann-Whitney W=2677, p=0.002), a result confirmed by permutation testing in females (permutation-corrected p=0.02). This result is discussed in terms of androstenedione being the immediate precursor of, and being converted into, testosterone, dihydrotestosterone, or estrogens in hormone-sensitive tissues and organs.

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One potential source of heterogeneity within autism spectrum conditions (ASC) is language development and ability. In 80 high-functioning male adults with ASC, we tested if variations in developmental and current structural language are associated with current neuroanatomy. Groups with and without language delay differed behaviorally in early social reciprocity, current language, but not current autistic features. Language delay was associated with larger total gray matter (GM) volume, smaller relative volume at bilateral insula, ventral basal ganglia, and right superior, middle, and polar temporal structures, and larger relative volume at pons and medulla oblongata in adulthood. Despite this heterogeneity, those with and without language delay showed significant commonality in morphometric features when contrasted with matched neurotypical individuals (n = 57). In ASC, better current language was associated with increased GM volume in bilateral temporal pole, superior temporal regions, dorsolateral fronto-parietal and cerebellar structures, and increased white matter volume in distributed frontal and insular regions. Furthermore, current language–neuroanatomy correlation patterns were similar across subgroups with or without language delay. High-functioning adult males with ASC show neuroanatomical variations associated with both developmental and current language characteristics. This underscores the importance of including both developmental and current language as specifiers for ASC, to help clarify heterogeneity.

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Facial expression recognition was investigated in 20 males with high functioning autism (HFA) or Asperger syndrome (AS), compared to typically developing individuals matched for chronological age (TD CA group) and verbal and non-verbal ability (TD V/NV group). This was the first study to employ a visual search, “face in the crowd” paradigm with a HFA/AS group, which explored responses to numerous facial expressions using real-face stimuli. Results showed slower response times for processing fear, anger and sad expressions in the HFA/AS group, relative to the TD CA group, but not the TD V/NV group. Reponses to happy, disgust and surprise expressions showed no group differences. Results are discussed with reference to the amygdala theory of autism.

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Pós-graduação em Educação - FFC

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Pós-graduação em Educação - FFC

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One of the most consistent findings in the neuroscience of autism is hypoactivation of the fusiform gyrus (FG) during face processing. In this study the authors examined whether successful facial affect recognition training is associated with an increased activation of the FG in autism. The effect of a computer-based program to teach facial affect identification was examined in 10 individuals with high-functioning autism. Blood oxygenation level-dependent (BOLD) functional magnetic resonance imaging (fMRI) changes in the FG and other regions of interest, as well as behavioral facial affect recognition measures, were assessed pre- and posttraining. No significant activation changes in the FG were observed. Trained participants showed behavioral improvements, which were accompanied by higher BOLD fMRI signals in the superior parietal lobule and maintained activation in the right medial occipital gyrus.

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Autism is a chronic pervasive neurodevelopmental disorder characterized by the early onset of social and communicative impairments as well as restricted, ritualized, stereotypic behavior. The endophenotype of autism includes neuropsychological deficits, for instance a lack of "Theory of Mind" and problems recognizing facial affect. In this study, we report the development and evaluation of a computer-based program to teach and test the ability to identify basic facially expressed emotions. 10 adolescent or adult subjects with high-functioning autism or Asperger-syndrome were included in the investigation. A priori the facial affect recognition test had shown good psychometric properties in a normative sample (internal consistency: rtt=.91-.95; retest reliability: rtt=.89-.92). In a prepost design, one half of the sample was randomly assigned to receive computer treatment while the other half of the sample served as control group. The training was conducted for five weeks, consisting of two hours training a week. The trained individuals improved significantly on the affect recognition task, but not on any other measure. Results support the usefulness of the program to teach the detection of facial affect. However, the improvement found is limited to a circumscribed area of social-communicative function and generalization is not ensured.

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The utilization of symptom validity tests (SVTs) in pediatric assessment is receiving increasing empirical support. The Rey 15-Item Test (FIT) is an SVT commonly used in adult assessment, with limited research in pediatric populations. Given that FIT classification statistics across studies to date have been quite variable, Boone, Salazar, Lu, Warner-Chacon, and Razani (2002) developed a recognition trial to use with the original measure to enhance accuracy. The current study aims to assess the utility of the FIT and recognition trial in a pediatric mild traumatic brain injury (TBI) sample (N = 112; M = 14.6 years), in which a suboptimal effort base rate of 17% has been previously established (Kirkwood & Kirk, 2010). All participants were administered the FIT as part of an abbreviated neuropsychological evaluation; failure on the Medical Symptom Validity Test (MSVT) was used as the criterion for suspect effort. The traditional adult cut-off score of(99%), but poor sensitivity (6%). When the recognition trial was also utilized, a combination score of(sensitivity = 64%, specificity = 93%). Results indicate that the FIT with recognition trial may be useful in the assessment of pediatric suboptimal effort, at least among relatively high functioning children following mild TBI.

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Results of neuropsychological examinations depend on valid data. Whereas clinicians previously believed that clinical skill was sufficient to identify non-credible performance by examinees on standard tests, research demonstrates otherwise. Consequently, studies on measures to detect suspect effort in adults have received tremendous attention in the previous twenty years, and incorporation of validity indicators into neuropsychological examinations is now seen as integral. Few studies exist that validate methods appropriate for the measurement of effort in pediatric populations. Of extant studies, most evaluate standalone measures originally developed for use with adults. The present study examined the utility of indices from the California Verbal Learning Test – Children's Version (CVLT-C) as embedded validity indicators in a pediatric sample. Participants were 225 outpatients aged 8 to 16 years old referred for clinical assessment after mild traumatic brain injury (mTBI). Non-credible performance (n = 39) was defined as failure of the Medical Symptom Validity Test (MSVT). Logistic regression demonstrated that only the Recognition Discriminability index was predictive of MSVT failure (OR = 2.88, p < .001). A cutoff of z ≤ -1.0 was associated with sensitivity of 51% and specificity of 91%. In the current study, CVLT-C Recognition Discriminability was useful in the identification of non-credible performance in a sample of relatively high-functioning pediatric outpatients with mTBI. Thus, this index can be added to the short list of embedded validity indicators appropriate for pediatric neuropsychological assessment.

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SHIP strategic issues and outcomes: Access: access to health care and public health services including quality prevention programs, oral health, mental health, medical and long-term care. ... Data and information technology: assure that current health status and public health system data are used to plan and implement policy and programs. ... Disparities : monitor health disparities and implement effective strategies to eliminate them. ... Measure, manage and improve the public health system: assure accountability, ongoing improvement, and performance management. ... Workforce: assure an optimal, diverse and competent workforce. Priority health conditions: monitor priority health conditions and risk factors, and implement effective strategies to reduce them. ...

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Background: In the context of the established finding that theory-of-mind (ToM) growth is seriously delayed in late-signing deaf children, and some evidence of equivalent delays in those learning speech with conventional hearing aids, this study's novel contribution was to explore ToM development in deaf children with cochlear implants. Implants can substantially boost auditory acuity and rates of language growth. Despite the implant, there are often problems socialising with hearing peers and some language difficulties, lending special theoretical interest to the present comparative design. Methods: A total of 52 children aged 4 to 12 years took a battery of false belief tests of ToM. There were 26 oral deaf children, half with implants and half with hearing aids, evenly divided between oral-only versus sign-plus-oral schools. Comparison groups of age-matched high-functioning children with autism and younger hearing children were also included. Results: No significant ToM differences emerged between deaf children with implants and those with hearing aids, nor between those in oral-only versus sign-plus-oral schools. Nor did the deaf children perform any better on the ToM tasks than their age peers with autism. Hearing preschoolers scored significantly higher than all other groups. For the deaf and the autistic children, as well as the preschoolers, rate of language development and verbal maturity significantly predicted variability in ToM, over and above chronological age. Conclusions: The finding that deaf children with cochlear implants are as delayed in ToM development as children with autism and their deaf peers with hearing aids or late sign language highlights the likely significance of peer interaction and early fluent communication with peers and family, whether in sign or in speech, in order to optimally facilitate the growth of social cognition and language.

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This study examined theory of mind (ToM) and concepts of human biology (eyes, heart, brain, lungs and mind) in a sample of 67 children, including 25 high functioning children with autism (age 6-13), plus age-matched and preschool comparison groups. Contrary to Baron-Cohen [1989, Journal of Autism and Developmental Disorders, 19(4), 579-600], most children with autism correctly understood the functions of the brain (84%) and the mind (64%). Their explanations were predominantly mentalistic. They outperformed typically developing preschoolers in understanding inner physiological (heart, lungs) and cognitive (brain, mind) systems, and scored as high as age-matched typical children. Yet, in line with much previous ToM research, most children with autism (60%) failed false belief, and their ToM performance was unrelated to their understanding of. human biology. Results were discussed in relation to neurobiological and social-experiential accounts of the ToM deficit in autism.

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Autism is a pervasive developmental disorder and Asperger’s syndrome is part of the spectrum of autism disorders. This thesis aims to: • Review and investigate current theories concerning visual function in individuals with Asperger’s syndrome and high functioning autism spectrum disorder and to translate the findings into clinical practice by developing a specific protocol for the eye examination of individuals of this population. • Investigate whether those with Asperger’s syndrome are more likely to suffer from Meares-Irlen syndrome and/or dyslexia. • Assess the integrity of the M-cell pathway in Asperger’s syndrome using perimetric tests available in optometric practice to investigate and also to describe the nature of any defects. • Evaluate eye movement strategies in Asperger’s whilst viewing both text and images. Also to evaluate the most appropriate methodology for investigating eye movements; namely optical digital eye tracking and electrophysiology methodologies. Findings of the investigations include • Eye examinations for individuals with Asperger’s syndrome should contain the same testing methods as for the general population, with special consideration for clear communication. • There is a depression of M-pathway visual field sensitivity in 57% (8/14) of people with Asperger’s syndrome, supporting previous evidence for an M-cell deficit in some individuals. • There is a raised prevalence of dyslexia in Asperger’s syndrome (26% of a sample of 31) but not necessarily of Meares-Irlen syndrome. • Gaze strategies are abnormal in Asperger’s syndrome, for both reading and viewing of images. With increased saccadic movement and decreased viewing of faces in comparison to background detail.