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Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by high heritability. It is known that genetic factors contribute to ASD pathogenesis. In particular, copy number variants (CNVs) are involved in ASD susceptibility and can affect gene expression regulation. 2p11.2 microdeletions encompassing ELMOD3, CAPG and SH2D6 genes have been described in four unrelated ASD families. The present study revealed that this microdeletion is responsible for the production of a chimeric transcript generated from the fusion between ELMOD3 and SH2D6. The identified transcript showed significantly higher expression levels in subjects carrying the deletion compared to control subjects, suggesting that it is not subjected to nonsense‐mediated decay and might encode for a chimeric protein. In conclusion, this study suggests the possible involvement of this gene fusion, together with the other previously identified variants, in ASD. [ABSTRACT FROM AUTHOR]

Eye‐tracking is a valuable tool in cognitive science for measuring how visual processing resources are allocated during scene exploration. However, eye-tracking technology is largely confined to laboratory‐based settings, making it difficult to apply to large-scale studies. Here, we introduce a biologically‐inspired solution that involves presenting, on a touch‐sensitive interface, a Gaussian‐blurred image that is locally unblurred by sliding a finger over the display. Thus, the user’s finger movements provide a proxy for their eye movements and attention. We validated the method by showing strong correlations between attention maps obtained using finger-tracking vs. conventional optical eye‐tracking. Using neural networks trained to predict empirically‐derived attention maps, we established that identical high‐level features hierarchically drive explorations with either method. Finally, the diagnostic value of digit‐tracking was tested in autistic and brain‐damaged patients. Rapid yet robust measures afforded by this method open the way to large scale applications in research and clinical settings. [ABSTRACT FROM AUTHOR]

Introduction: The olfactory system is associated with several brain areas that might be involved in neurodegenerative processes and neurodevelopmental disorders. For this reason, investigation of the olfactory function plays an important role in the assessment of individuals with autism spectrum disorder (ASD), a neurodevelopmental disorder characterized by an impairment in social communication and by a restricted and repetitive pattern of behaviors. The aim of this study was to examine odor detection threshold, discrimination, and identification in participants with ASD compared to typically developing (TD) controls.Methods: Thirty Italian subjects (15 with ASD, mean age 19 ± 0.5 years, and 15 TD controls, mean age 21.7 ± 0.4 years) were evaluated by means of the Sniffin’ Sticks extended test through three different parameters, odor detection threshold, discrimination, and identification, and their sum the threshold, discrimination, and identification (TDI) score.Results: Our results indicated that the participants with ASD showed an impairment in odor detection threshold and TDI score compared to TD controls. No differences were found in odor identification and discrimination. Participants with ASD were significantly poorer in correctly identifying the following odors: leather, apple, rose, cinnamon, garlic, cloves, and anis. However, they were significantly better than TD controls in correctly identifying the odor of the following fruits: orange, banana, and lemon.Conclusion and Implications: Our data provide a comprehensive evaluation of the three olfactory components in an Italian population and confirm an impaired odor detection threshold and TDI score in subjects with ASD compared to TD controls. In conclusion, these results suggest that the Sniffin’ Sticks extended test might be a valid tool in early detection and differential diagnosis of neurodevelopmental disorders. [ABSTRACT FROM AUTHOR]

This study investigated social visual attention in children with Autism Spectrum Disorder (ASD) and with typical development (TD) in the light of Brockmann and Geisel's model of visual attention. The probability distribution of gaze movements and clustering of gaze points, registered with eye-tracking technology, was studied during a free visual exploration of a gaze stimulus. A data-driven analysis of the distribution of eye movements was chosen to overcome any possible methodological problems related to the subjective expectations of the experimenters about the informative contents of the image in addition to a computational model to simulate group differences. Analysis of the eye-tracking data indicated that the scanpaths of children with TD and ASD were characterized by eye movements geometrically equivalent to Lévy flights. Children with ASD showed a higher frequency of long saccadic amplitudes compared with controls. A clustering analysis revealed a greater dispersion of eye movements for these children. Modeling of the results indicated higher values of the model parameter modulating the dispersion of eye movements for children with ASD. Together, the experimental results and the model point to a greater dispersion of gaze points in ASD [ABSTRACT FROM AUTHOR]

This paper adds to the growing research on moral judgment (MJ) by considering whether theory of mind (ToM) might foster children's autonomous MJ achievement. A group of 30 children with autism spectrum disorder (ASD) was compared in MJ and ToM with 30 typically developing (TD) children. Participants were tested for MJ with a classical Piaget's task and for ToM with a second order False Belief task. In the moral task, children were told two versions of a story: in one version the protagonist acted according to a moral intention but the action resulted in a harmful consequence; in the other version the protagonist acted according to an immoral intention, but the action resulted in a harmless consequence. Children were asked which of the two protagonists was the "naughtier." In line with previous studies, the results indicated that, while the majority of TD participants succeeded in the second order False Belief task, only few individuals with ASD showed intact perspective taking abilities. The analysis of the MJ in relation to ToM showed that children with ASD lacking ToM abilities judged guilty the protagonists of the two versions of the story in the moral task because both of them violated a moral rule or because they considered the consequences of the actions, ignoring any psychological information. These results indicate a heteronomous morality in individuals with ASD, based on the respect of learned moral rules and outcomes rather than others' subjective states. [ABSTRACT FROM AUTHOR]

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects social interaction and communication, with restricted interests, activity and behaviors. ASD is highly familial, indicating that genetic background strongly contributes to the development of this condition. However, only a fraction of the total number of genes thought to be associated with the condition have been discovered. Moreover, other factors may play an important role in ASD onset. In fact, it has been shown that parental conditions and in utero and perinatal factors may contribute to ASD etiology. More recently, epigenetic changes, including DNA methylation and micro RNA alterations, have been associated with ASD and proposed as potential biomarkers. This review aims to provide a summary of the literature regarding ASD candidate genes, mainly focusing on synapse formation and functionality and relevant epigenetic and environmental aspects acting in concert to determine ASD onset. [ABSTRACT FROM AUTHOR]