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The broad autism phenotype (BAP) has been defined both behaviorally and biologically. There has been little research on the association of the BAP, behaviorally defined, with neural or cognitive biomarkers typically associated with Autism Spectrum Disorder (ASD). People diagnosed with ASD tend to show reduced gaze fixation toward the eye region, but much less eye-tracking research has been done related to the BAP (Boraston & Blakemore, 2007). In this study, we sought to assess eye gaze patterns in people with the behaviorally defined BAP, as defined by a score of 30 or above on the Autism Spectrum Quotient (AQ; Baron-Cohen et al., 2001). It was hypothesized that the BAP group participants would exhibit longer average fixation duration to the eye region during an emotion recognition condition, relative to a free-viewing condition, whereas the comparison group participants (defined as an AQ score of 24 and below) would not show a difference in fixation duration to the eye region between conditions. Nine hundred and thirty-nine undergraduates completed an online survey, and 45 of these students (15 BAP group and 30 comparison group) participated in the eye-tracking session, where they viewed a series of human faces, each presented twice within a condition. Results revealed a significant negative relationship between social anxiety and eye region fixation duration in the free-viewing condition, for both presentations of faces. Contrary to expectation, BAP predicted longer eye region fixation duration in the free-viewing condition, for the second presentation of faces. Possible explanations for these surprising findings are discussed. / Master of Science

During normal development, face processing involves a gradual shift from a featurally oriented style to a mature configural style by adolescence. This shift may coincide with increased right hemispheric dominance for faces supporting configural processing. Previous studies suggest that individuals diagnosed with ASD continue to process faces using individual parts and features into adulthood. This continued bias may be due to deficits in configural processing abilities. The current study investigated measures of functional connectivity during featural and configural processing of faces in broad autism phenotype sibling (ASD-sibs) children compared to age, sex, and handedness matched normal developing (ND) controls and in children diagnosed with an Autism Spectrum Disorder compared to ASD-matched ND controls. Results indicate that children with ASD and ASD-sibs were capable of performing configural processing tasks at similar performance levels to those of ND children. Additionally, patterns of functional network connectivity for configural processing in ASD-sibs were similar to those observed in ND controls. Few network-wide hemispheric differences emerged between groups. While behavioral performance and overall network-wide patterns of connectivity suggest a face processing network that is capable of supporting configural processing in ASD and ASD-sibs, abnormalities were observed in specific regions. The amygdala and fusiform face area showed fewer interactions with the rest of the face processing network in ASD children compared to ND during configural, but not featural processing. Additionally, hemispheric comparisons show greater differences between ASD and ND controls in the right fusiform face area. The ability of these regions to communicate with other regions in the face network could be important for social motivation and attention during configural processing. Interestingly, network connectivity in ASD children during passive viewing of faces, objects, and textures without featural or configural manipulations showed a more functionally integrated, and less segregated network with a lower “wiring cost” during non-face conditions compared to ND children. ASD-sibs may demonstrate a similar milder pattern.

Impairments in both theory of mind (ToM; the ability to attribute mental states to oneself and others) and executive function (EF; a group of high-level cognitive functions which help guide and control goal-directed behaviour) have been demonstrated in individuals with autism spectrum disorders (ASDs). Both deficits have been proposed by different groups of researchers as being the single primary cognitive deficit of autism, which can subsume the other deficit as secondary or artefactual. However, few studies have examined the nature of the relationship between ToM and EF in ASDs or conducted a systematic investigation of their relative primacy. This research principally sought to establish the primacy and independence of impairments in ToM and EF in ASDs and thereby evaluate the validity of single versus multiple primary deficit models of autism. These aims were addressed in two studies, both broad in scope. The first study was an investigation of the profile, primacy, and independence of ToM and EF impairments in individuals with ASDs. The sample included 46 participants with ASDs and 48 control participants matched on age and non-verbal ability. The profile of impairments was examined by measuring ToM and a range of EF components using tasks employing, wherever possible, process-pure indices of performance. Primacy was measured by focussing on i) whether or not the deficits observed were universal among individuals with ASDs; ii) whether the deficits were able to discriminate individuals with ASDs from matched controls (i.e., predict group membership); and iii) the ability of ToM and EF deficits to explain the full range of autistic symptomatology, as measured by correlating cognitive performances with behavioural indices. The relationship between ToM and EF impairments was investigated by conducting correlations between ToM and EF variables as well as analysing the incidence of dissociations between impairments in the two domains. The ASD group was found to demonstrate significant impairments in ToM and several components of EF including planning, verbal inhibition, working memory (in a context where inhibitory control was required), and both verbal and non-verbal generativity. However, neither ToM nor EF impairments were able to meet all of the criteria for a primary deficit in ASDs. EF deficits were found to be more primary, but could not account for ToM as a secondary deficit, as ToM and EF were found to be independent (i.e., uncorrelated and dissociable) deficits in the ASD group. This pattern of results suggested that a multiple deficits model involving at least two independent impairments appeared to best characterise ASDs, but the data were compatible with several variants of such a model (e.g., involving distinct subtypes versus a multidimensional spectrum). The second study was an investigation of ToM and EF impairments in siblings of individuals with ASDs, who have previously been found to demonstrate a subclinical “broad autism phenotype”. The main aims of this study were i) to identify whether ToM or EF deficits could meet criteria for an “endophenotype” or vulnerability marker for the autism genotype in unaffected relatives, which would have further implications about the primacy of ToM and EF in ASDs; and ii) to further investigate the validity of various multiple deficits models of ASDs by examining the pattern of ToM and EF performance in those showing the broad phenotype. Participants were 108 siblings of individuals with ASDs and 67 siblings of controls, tested on the same ToM and EF tasks used in the first study. Confirming the superior primacy of EF deficits found in Study One, there was no significant difference in ToM performance between ASD and control siblings, but ASD siblings showed weaknesses on two measures of EF. Furthermore, there appeared to be different subgroups of siblings demonstrating different cognitive profiles, consistent with the heterogeneity evident in the first study. This research indicated that ASDs cannot be explained by a single primary cognitive deficit. These findings hold important theoretical and empirical implications and highlight further questions about which type of multiple deficits model might best explain ASDs.

O autismo apresenta uma alta herdabilidade e uma etiologia heterogênea, com o provável envolvimento de vários genes. Estudos recentes sugerem que características presentes nos pais de crianças com autismo apresentam paralelo com as apresentações de traços associados nos filhos. Este estudo avaliou 15 famílias de autistas, de Porto Alegre e região metropolitana, e controles. Foram utilizados quatro instrumentos de avaliação no estudo: dois avaliando as características nos filhos (ADI-R e Protocolo de Bosa) e dois aplicados aos pais (ITC e EDS). Os resultados deste estudo apontaram para a confirmação da agregação familiar de características fenotípicas herdadas independentemente. Apesar de diferirem dos resultados dos controles (pais de crianças com desenvolvimento típico), não comprovou-se a existência de uma diferença significativa na severidade de apresentações fenotípicas em pais de crianças autistas. Foi possível estabelecer a presença de uma configuração de características fenotípicas ligadas a aspectos do autismo em pais e crianças com autismo. Esta pesquisa aponta pistas para a existência de um padrão de herança dentro das famílias autistas. / The autism is a neuropsychiatric disturbance characterized by a retard pattern and by deficits in the development of the social abilities, of communication and by a restricted repertory of activities and interests. The beginning of this disturbance occurs at the first years of life. The autism presents a high inheritability and a heterogeneous etiology, with the probable involvement of several genes. Recent studies suggest that present characteristics in the parents of children with autism present parallel with the presentations of associated features in the children. This study evaluated 15 families of autists, from Porto Alegre and metropolitan region and controls. Four evaluation instruments was utilized in the study: two of them evaluating the characteristics in the children (ADI-R and Bosa's Protocol) and two of them applied to the parents (TCI and SAD). The results of this study pointed to the confirmation of the familiar aggregation of independently inherited phenotypical characteristics. Albeit they differ from the controls results (parents of children with typical development), it was not possible to prove the existence of a significative difference in the severity of phenotypical presentations in parents of autistic children. It was possible to establish a presence of a configuration of phenotypical characteristics connected to autism aspects in parents and children with autism. This research indicates clues for the existence of a inheritance pattern within the autistic families.

O autismo apresenta uma alta herdabilidade e uma etiologia heterogênea, com o provável envolvimento de vários genes. Estudos recentes sugerem que características presentes nos pais de crianças com autismo apresentam paralelo com as apresentações de traços associados nos filhos. Este estudo avaliou 15 famílias de autistas, de Porto Alegre e região metropolitana, e controles. Foram utilizados quatro instrumentos de avaliação no estudo: dois avaliando as características nos filhos (ADI-R e Protocolo de Bosa) e dois aplicados aos pais (ITC e EDS). Os resultados deste estudo apontaram para a confirmação da agregação familiar de características fenotípicas herdadas independentemente. Apesar de diferirem dos resultados dos controles (pais de crianças com desenvolvimento típico), não comprovou-se a existência de uma diferença significativa na severidade de apresentações fenotípicas em pais de crianças autistas. Foi possível estabelecer a presença de uma configuração de características fenotípicas ligadas a aspectos do autismo em pais e crianças com autismo. Esta pesquisa aponta pistas para a existência de um padrão de herança dentro das famílias autistas. / The autism is a neuropsychiatric disturbance characterized by a retard pattern and by deficits in the development of the social abilities, of communication and by a restricted repertory of activities and interests. The beginning of this disturbance occurs at the first years of life. The autism presents a high inheritability and a heterogeneous etiology, with the probable involvement of several genes. Recent studies suggest that present characteristics in the parents of children with autism present parallel with the presentations of associated features in the children. This study evaluated 15 families of autists, from Porto Alegre and metropolitan region and controls. Four evaluation instruments was utilized in the study: two of them evaluating the characteristics in the children (ADI-R and Bosa's Protocol) and two of them applied to the parents (TCI and SAD). The results of this study pointed to the confirmation of the familiar aggregation of independently inherited phenotypical characteristics. Albeit they differ from the controls results (parents of children with typical development), it was not possible to prove the existence of a significative difference in the severity of phenotypical presentations in parents of autistic children. It was possible to establish a presence of a configuration of phenotypical characteristics connected to autism aspects in parents and children with autism. This research indicates clues for the existence of a inheritance pattern within the autistic families.

O autismo apresenta uma alta herdabilidade e uma etiologia heterogênea, com o provável envolvimento de vários genes. Estudos recentes sugerem que características presentes nos pais de crianças com autismo apresentam paralelo com as apresentações de traços associados nos filhos. Este estudo avaliou 15 famílias de autistas, de Porto Alegre e região metropolitana, e controles. Foram utilizados quatro instrumentos de avaliação no estudo: dois avaliando as características nos filhos (ADI-R e Protocolo de Bosa) e dois aplicados aos pais (ITC e EDS). Os resultados deste estudo apontaram para a confirmação da agregação familiar de características fenotípicas herdadas independentemente. Apesar de diferirem dos resultados dos controles (pais de crianças com desenvolvimento típico), não comprovou-se a existência de uma diferença significativa na severidade de apresentações fenotípicas em pais de crianças autistas. Foi possível estabelecer a presença de uma configuração de características fenotípicas ligadas a aspectos do autismo em pais e crianças com autismo. Esta pesquisa aponta pistas para a existência de um padrão de herança dentro das famílias autistas. / The autism is a neuropsychiatric disturbance characterized by a retard pattern and by deficits in the development of the social abilities, of communication and by a restricted repertory of activities and interests. The beginning of this disturbance occurs at the first years of life. The autism presents a high inheritability and a heterogeneous etiology, with the probable involvement of several genes. Recent studies suggest that present characteristics in the parents of children with autism present parallel with the presentations of associated features in the children. This study evaluated 15 families of autists, from Porto Alegre and metropolitan region and controls. Four evaluation instruments was utilized in the study: two of them evaluating the characteristics in the children (ADI-R and Bosa's Protocol) and two of them applied to the parents (TCI and SAD). The results of this study pointed to the confirmation of the familiar aggregation of independently inherited phenotypical characteristics. Albeit they differ from the controls results (parents of children with typical development), it was not possible to prove the existence of a significative difference in the severity of phenotypical presentations in parents of autistic children. It was possible to establish a presence of a configuration of phenotypical characteristics connected to autism aspects in parents and children with autism. This research indicates clues for the existence of a inheritance pattern within the autistic families.

No description available.