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.
RCTs of oxytocin interventions in autism yielded potentially promising findings in measures of emotion recognition and eye gaze, which are impaired early in the course of the ASD condition and might disrupt social skills learning in developing children. There is a need for larger, more methodologically rigorous RCTs in this area. Future studies should be better powered to estimate outcomes with medium to low effect size, and should try to enroll female participants, who were rarely considered in previous studies. Risk of bias should be minimized. Human long-term administration studies are necessary before clinical recommendations can be made.
Three patients developed erosive pustular dermatosis of the scalp (EPDS). Two of them, both males, had previously undergone surgical excision for squamous cell carcinoma and basal cell carcinoma, and a female experienced avulsive trauma of the scalp. The erosive lesions and crusts were located at the site of a skin graft; microbiological cultures were negative for bacterial and fungal growth. Histological examination ruled out pustular bullous disorders. Topical therapy with corticosteroids and antibiotics resulted in clinical remission in only 2 cases. The third case showed a tendency to recur despite numerous therapeutic attempts with oral dapsone and isotretinoin. We conclude that surgical trauma is a possible cause of EPDS. Our patients seem to be the first reported cases of EPDS in skin grafts following plastic surgical procedures.
Attention to faces and eye contact are key behaviors for establishing social bonds in humans. Autism Spectrum Disorders (ASD) is characterized by poor communication skills, impaired face processing and gaze avoidance. The biological alterations underlying these impairments are still unclear. Using electroencephalography, multi-variate pattern classification and blind source separation methods we searched for face and face components related neural signals that could best discriminate neurotypicals and ASD visual processing. We isolated a face-specific neural signal in the superior temporal sulcus peaking at 240ms after stimulus onset. A machine learning algorithm applied on the extracted neural component reached 74% decoding accuracy at the same latencies, dissociating neurotypicals from ASD subjects in whom this signal was weak. By manipulating attention to face parts we found that the signal-evoked power in neurotypicals varied as a function of the distance of the eyes in the face stimulus with respect to the viewers' fovea. Such selective face and face-components neural modulations were not found in ASD individuals although they showed early face related P100 and N170 signals. These findings show that dedicated cortical mechanisms related to face perception set neural priority for attention to eyes and that these mechanisms are altered in individuals with ASD.
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.
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