RESUMO
Whether people with Autism Spectrum Disorders (ASDs) have a specific deficit when processing biological motion has been a topic of much debate. We used psychophysical methods to determine individual behavioural thresholds in a point-light direction discrimination paradigm for a small but carefully matched groups of adults (N=10 per group) with and without ASDs. These thresholds were used to derive individual stimulus levels in an identical fMRI task, with the purpose of equalising task performance across all participants whilst inside the scanner. The results of this investigation show that despite comparable behavioural performance both inside and outside the scanner, the group with ASDs shows a different pattern of BOLD activation from the TD group in response to the same stimulus levels. Furthermore, connectivity analysis suggests that the main differences between the groups are that the TD group utilise a unitary network with information passing from temporal to parietal regions, whilst the ASD group utilise two distinct networks; one utilising motion sensitive areas and another utilising form selective areas. Furthermore, a temporal-parietal link that is present in the TD group is missing in the ASD group. We tentatively propose that these differences may occur due to early dysfunctional connectivity in the brains of people with ASDs, which to some extent is compensated for by rewiring in high functioning adults.
Assuntos
Córtex Cerebral/fisiopatologia , Transtornos Globais do Desenvolvimento Infantil/fisiopatologia , Imageamento por Ressonância Magnética , Percepção de Movimento , Rede Nervosa/fisiopatologia , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Adulto JovemRESUMO
While strong familial evidence supports a substantial genetic contribution to the etiology of autism spectrum disorders (ASD), specific genetic abnormalities have been identified in only a small minority of all cases. In order to comprehensively delineate the genetic components of autism including the identification of rare and common variants, overall sample sizes an order of magnitude larger than those currently under study are critically needed. This will require rapid and scalable subject assessment paradigms that obviate clinic-based time-intensive behavioral phenotyping, which is a rate-limiting step. Here, we test the accuracy of a web-based approach to autism phenotyping implemented within the Interactive Autism Network (IAN). Families who were registered with the IAN and resided near one of the three study sites were eligible for the study. One hundred seven children ascertained from this pool who were verbal, age 4-17 years, and had Social Communication Questionnaire (SCQ) scores > or =12 (a profile that characterizes a majority of ASD-affected children in IAN) underwent a clinical confirmation battery. One hundred five of the 107 children were ASD positive (98%) by clinician's best estimate. One hundred four of these individuals (99%) were ASD positive by developmental history using the Autism Diagnostic Interview-Revised (ADI-R) and 97 (93%) were positive for ASD by developmental history and direct observational assessment (Autism Diagnostic Observational Schedule or expert clinician observation). These data support the reliability and feasibility of the IAN-implemented parent-report paradigms for the ascertainment of clinical ASD for large-scale genetic research.
Assuntos
Transtorno Autístico/diagnóstico , Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Internet , Pais , Inquéritos e Questionários , Adolescente , Adulto , Transtorno Autístico/epidemiologia , Criança , Transtornos Globais do Desenvolvimento Infantil/epidemiologia , Pré-Escolar , Feminino , Humanos , Masculino , Fenótipo , Tamanho da AmostraRESUMO
OBJECTIVE: To determine whether expertise in the attribution of emotion from basic facial expressions in high-functioning individuals with autistic spectrum disorder (ASD) is supported by the amygdala, fusiform, and prefrontal regions of interest (ROI) and is comparable to that of typically developing individuals. METHOD: Functional magnetic resonance imaging scans were acquired from 14 males with ASD and 10 matched adolescent controls while performing emotion match (EM) (perceptual), emotion label (EL) (linguistic), and control tasks. Accuracy, response time, and average activation were measured for each ROI. RESULTS: There was no significant difference in accuracy, response time, or ROI activation between groups performing the EL task. The ASD group was as accurate as the control group performing the EM task but had a significantly longer response time and lower average fusiform activation. CONCLUSIONS: Expertise in the attribution of emotion from basic facial expressions was task-dependent in the high-functioning ASD group. The hypothesis that the high-functioning ASD group would be less expert and would have reduced fusiform activation was supported in the perceptual task but not the linguistic task. The reduced fusiform activation in the perceptual task was not explained by reduced expertise; it is therefore concluded that reduced fusiform activation is associated with the diagnosis of ASD.
Assuntos
Tonsila do Cerebelo/fisiopatologia , Transtorno Autístico/fisiopatologia , Córtex Cerebral/fisiopatologia , Emoções , Percepção Social , Adolescente , Análise de Variância , Estudos de Casos e Controles , Criança , Expressão Facial , Humanos , Imageamento por Ressonância Magnética , Masculino , PsicolinguísticaRESUMO
Previous studies of memory in autism spectrum conditions (ASC) have consistently shown that persons with ASC have reduced memories for social information, relative to a spared memory for non-social facts. The current study aims to reproduce these findings, while examining the possible causes leading to this difference. Participants' memory for trait-words was tested after they had viewed the words in three study contexts: visuo-motor, letter-detection, and social judgment. While participants with ASC showed a levels-of-processing effect, such that their memory for words viewed in the social judgment context was greater than their memory for words viewed in the letter-detection context, their memory for socially-processed words was reduced relative to comparison participants. This interaction effect could not be explained by a speed/accuracy trade-off, nor could it be explained solely by differences in encoding. These results suggest that social memory deficits in ASC arise from difficulties both in orienting towards and encoding social content, as well as retaining and retrieving it. Implications for theory and clinical practice are discussed.
Assuntos
Transtornos Globais do Desenvolvimento Infantil/psicologia , Transtornos da Memória/psicologia , Adolescente , Criança , Feminino , Humanos , MasculinoRESUMO
CONTEXT: Best-estimate clinical diagnoses of specific autism spectrum disorders (autistic disorder, pervasive developmental disorder-not otherwise specified, and Asperger syndrome) have been used as the diagnostic gold standard, even when information from standardized instruments is available. OBJECTIVE: To determine whether the relationships between behavioral phenotypes and clinical diagnoses of different autism spectrum disorders vary across 12 university-based sites. DESIGN: Multisite observational study collecting clinical phenotype data (diagnostic, developmental, and demographic) for genetic research. Classification trees were used to identify characteristics that predicted diagnosis across and within sites. SETTING: Participants were recruited through 12 university-based autism service providers into a genetic study of autism. PARTICIPANTS: A total of 2102 probands (1814 male probands) between 4 and 18 years of age (mean [SD] age, 8.93 [3.5] years) who met autism spectrum criteria on the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule and who had a clinical diagnosis of an autism spectrum disorder. MAIN OUTCOME MEASURE: Best-estimate clinical diagnoses predicted by standardized scores from diagnostic, cognitive, and behavioral measures. RESULTS: Although distributions of scores on standardized measures were similar across sites, significant site differences emerged in best-estimate clinical diagnoses of specific autism spectrum disorders. Relationships between clinical diagnoses and standardized scores, particularly verbal IQ, language level, and core diagnostic features, varied across sites in weighting of information and cutoffs. CONCLUSIONS: Clinical distinctions among categorical diagnostic subtypes of autism spectrum disorders were not reliable even across sites with well-documented fidelity using standardized diagnostic instruments. Results support the move from existing subgroupings of autism spectrum disorders to dimensional descriptions of core features of social affect and fixated, repetitive behaviors, together with characteristics such as language level and cognitive function.
Assuntos
Transtornos Globais do Desenvolvimento Infantil/diagnóstico , Adolescente , Síndrome de Asperger/diagnóstico , Síndrome de Asperger/psicologia , Transtorno Autístico/diagnóstico , Transtorno Autístico/psicologia , Criança , Transtornos Globais do Desenvolvimento Infantil/psicologia , Pré-Escolar , Feminino , Humanos , Modelos Logísticos , Masculino , Escalas de Graduação Psiquiátrica , Testes PsicológicosRESUMO
Individuals with Williams syndrome (WS) demonstrate an abnormally positive social bias. However, the neural substrates of this hypersociability, i.e., positive attribution bias and increased drive toward social interaction, have not fully been elucidated. METHODS: We performed an event-related functional magnetic resonance imaging study while individuals with WS and typically developing controls (TD) matched positive and negative emotional faces. WS compared to TD showed reduced right amygdala activation during presentation of negative faces, as in the previous literature. In addition, WS showed a unique pattern of right orbitofrontal cortex activation. While TD showed medial orbitofrontal cortex activation in response to positive, and lateral orbitofrontal cortex activation to negative, WS showed the opposite pattern. In light of the general notion of a medial/lateral gradient of reward/punishment processing in the orbitofrontal cortex, these findings provide an additional biological explanation for, or correlate of positive attribution bias and hypersociability in WS.
RESUMO
Understanding emotions is fundamental to our ability to navigate and thrive in a complex world of human social interaction. Individuals with Autism Spectrum Disorders (ASD) are known to experience difficulties with the communication and understanding of emotion, such as the nonverbal expression of emotion and the interpretation of emotions of others from facial expressions and body language. These deficits often lead to loneliness and isolation from peers, and social withdrawal from the environment in general. In the case of music however, there is evidence to suggest that individuals with ASD do not have difficulties recognizing simple emotions. In addition, individuals with ASD have been found to show normal and even superior abilities with specific aspects of music processing, and often show strong preferences towards music. It is possible these varying abilities with different types of expressive communication may be related to a neural system referred to as the mirror neuron system (MNS), which has been proposed as deficient in individuals with autism. Music's power to stimulate emotions and intensify our social experiences might activate the MNS in individuals with ASD, and thus provide a neural foundation for music as an effective therapeutic tool. In this review, we present literature on the ontogeny of emotion processing in typical development and in individuals with ASD, with a focus on the case of music.