Pubmed du 17/04/22
1. Miralles A, Grandgeorge M, Raymond M. Self-perceived empathic abilities of people with autism towards living beings mostly differs for humans. Scientific reports. 2022; 12(1): 6300.
Being phylogenetically close involves greater empathic perceptions towards other species. To explore this phenomenon, this study investigates the influence of neurocognitive predispositions to empathy on our perceptions of other organisms. Autistic spectrum disorders (ASD) are characterized, among others, by weakened empathic skills. Our online survey involved a group of 202 raters with ASD and a control group of 1100 raters, who had to make choices to assess their empathic perceptions toward an extended photographic sampling of organisms. Results highlight that both groups present overall similar trends in their empathic preferences, with empathy scores significantly decreasing with the phylogenetic distance relatively to humans. However, the empathy score attributed to Homo sapiens in the ASD group represents a striking outlier in the yet very sharp overall correlation between empathy scores and divergence time, scoring our species as low as cold-blooded vertebrates. These results are consistent with previous studies, which emphasized that (1) understanding human beings would be more difficult for people with ASD than decoding « animals » and (2) that Theory of Mind impairment would not represent a global deficit in people with ASD but may relate to the mindreading of specifically human agents.
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2. Samanta D. DEPDC5-related epilepsy: A comprehensive review. Epilepsy & behavior : E&B. 2022; 130: 108678.
DEPDC5-related epilepsy, caused by pathogenic germline variants(with or without additional somatic variants in the brain) of DEPDC5 (Dishevelled, Egl-10 and Pleckstrin domain-containing protein 5) gene, is a newly discovered predominantly focal epilepsy linked to enhanced mTORC1 pathway. DEPDC5-related epilepsy includes several familial epilepsy syndromes, including familial focal epilepsy with variable foci (FFEVF) and rare sporadic nonlesional focal epilepsy. DEPDC5 has been identified as one of the more common epilepsy genes linked to infantile spasms and sudden unexpected death (SUDEP). Although intelligence usually is unaffected in DEPDC5-related epilepsy, some people have been diagnosed with intellectual disabilities, autism spectrum disorder, and other psychiatric problems. DEPDC5 variants have also been found in 20% of individuals with various brain abnormalities, challenging the traditional distinction between lesional and nonlesional epilepsies. The most exciting development of DEPDC5 variants is the possibility of precision therapeutics using mTOR inhibitors, as evidenced with phenotypic rescue in many animal models. However, more research is needed to better understand the functional impact of diverse (particularly missense or splice-region) variants, the specific involvement of DEPDC5 in epileptogenesis, and the creation and utilization of precision therapies in humans. Precision treatments for DEPDC5-related epilepsy will benefit not only a small number of people with the condition, but they will also pave the way for new therapeutic approaches in epilepsy (including acquired epilepsies in which mTORC1 activation occurs, for example, post-traumatic epilepsy) and other neurological disorders involving a dysfunctional mTOR pathway.
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3. Trujillo JP, Özyürek A, Kan CC, Sheftel-Simanova I, Bekkering H. Differences in Functional Brain Organization During Gesture Recognition between Autistic and Neurotypical Individuals. Social cognitive and affective neuroscience. 2022.
Persons with and without autism process sensory information differently. Differences in sensory processing are directly relevant to social functioning and communicative abilities, which are known to be hampered in persons with autism. We collected functional magnetic resonance imaging (fMRI) data from 25 autistic individuals and 25 neurotypical individuals while they performed a silent gesture recognition task. We exploited brain network topology, a holistic quantification of how networks within the brain are organized to provide new insights into how visual communicative signals are processed in autistic and neurotypical individuals. Performing graph theoretical analysis, we calculated two network properties of the action observation network: local efficiency, as a measure of network segregation, and global efficiency, as a measure of network integration. We found that persons with autism and neurotypical persons differ in how the action observation network is organized. Persons with autism utilize a more clustered, local-processing-oriented network configuration (i.e., higher local efficiency), rather than the more integrative network organization seen in neurotypicals (i.e., higher global efficiency). These results shed new light on the complex interplay between social and sensory processing in autism.
