Genetic and clinical features of social cognition in 22q11.2 deletion syndrome

Abstract

22q11.2 deletion syndrome (22q11.2 DS) is widely known as one of the most compelling genetic models of schizophrenia so far, being almost 40% of the carriers affected by psychotic symptoms. Moreover, most of these subjects also show impairment in social cognition, which is a comprehensive array of function that guides social interaction with the others, leading as well to the acquisition of new cognitive and social skills. In the last decade researchers have argued whether social cognition dysfunctions could be underlined by specific genetic alterations, and whether these are linked to specific clinical features. Some valid candidate genes are RTN4R, that encodes a protein which inhibits axonal sprouting, DGCR8, crucial in mRNA processing, or catechol-O-methyltransferase (COMT) and proline oxydase 1 (PRODH), involved in catecholamine metabolism in frontal cortex. This is the first article to address the topic of social cognition in 22q11.2 DS from a wide perspective, with a highlight on its genetic characteristics. We will provide a narrative review of the most recent findings and we will point out new directions on this research path, in order to achieve an effective characterization of the neurobiological system underlying social behavior.

Social Cognition in a Research Domain Criteria Perspective: A Bridge Between Schizophrenia and Autism Spectra Disorders

“…Finally, several studies reported associations between genetics and SC also in subjects with the 22q11.2 Deletion Syndrome (22q11.2 DS) that has a robust representation of genetic proneness to SSD (156)(157)(158)(159)(160)(161). There is a strong agreement in all the results reported showing that compared to healthy controls, 22q11.2 CNV subjects showed significantly poorer SC such as emotion differentiation, emotion recognition, lie detection, sarcasm detection.…”

Vroeë afwykende niepsigotiese gedrag in skisofrenie

“…Daar is die afgelope tyd 'n hernude belangstelling in die genetika van skisofrenie en die funksionele inkortings wat daarmee saamhang, insluitend die kognitiewe inkortings wat sosiale kognisie onderlê. In 'n oorsig van die genetiese en kliniese kenmerke van sosiale kognisie by 22q11.2-mikroweglatingsindroom, beklemtoon Lattanzi et al (2018) 'n groep kandidaatgene wat veral van belang sou wees in 'n subgebied van 22q11.2. In volgorde van toenemende belang, bespreek die navorsers die volgende gene: ZDHHC8, RTN4R, DGCR8, PRODH en KOMT.…”

Spesifieke chromosoomgebiede en/of kandidaatgene geïdentifiseer by skisofrenie

“…Een van hierdie groepe word genoem 'Teorie van Verstand' en verwys na die vermoë om te verstaan wat in ander mense se gedagtes aangaan, en 'n idee te vorm van hulle emosies en geloofsoortuigings (Frith 1992). Tesame vorm kenmerke ten opsigte van die groepe verstandelike verwerkings die kognitiewe en gedragsfenotipe van skisofreniepasiënte se sosiale kognisie (Lattanzi et al 2018).…”