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.
The research reports on a study investigating the cognitive benefits of bilingualism in children who speak the minority languages of Sardinian and Scottish Gaelic, in addition to their respective ‘national’ languages of Italian and English. One hundred and twenty-one children, both bilingual and monolingual, were administered a series of standardised cognitive ability tests targeted at the four areas that have been previously shown to be advantageous to bilingual children in the literature, namely, cognitive control, problem-solving ability, metalinguistic awareness and working memory. The bilingual children significantly outperformed the monolingual children in two of the four sub-tests, and the Scottish children significantly outperformed the Sardinian children in one of the sub-tests. The differences found were largely due to the superior performance of the Scottish bilingual children who receive a formal bilingual education, in contrast to the Sardinian bilingual children who mostly only speak the minority language at home. The implications of the results are discussed.
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.
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