Social cognition in 22q11.2 microdeletion syndrome: Relevance to psychosis?

Abstract

22q11.2 deletion syndrome (22qDS) represents one of the largest known genetic risk factors for schizophrenia. Approximately 30% of individuals with 22qDS develop psychotic illness in adolescence or young adulthood. Given that deficits in social cognition are increasingly viewed as a central aspect of idiopathic schizophrenia, we sought to investigate abilities in this domain as a predictor of psychotic symptoms in 22qDS participants. We assessed multiple domains of social and non-social cognition in 22qDS youth to: 1) characterize performance across these domains in 22qDS, and identify whether 22qDS participants fail to show expected patterns of age-related improvements on these tasks; and 2) determine whether social cognition better predicts positive and negative symptoms than does non-social cognition. Task domains assessed were: emotion recognition and differentiation, Theory of Mind (ToM), verbal knowledge, abstract reasoning, working memory, and processing speed. Positive and negative symptoms were measured using scores obtained from the Structured Interview for Prodromal Symptoms (SIPS). 22qDS participants (N=31, mean age: 15.9) showed the largest impairment, relative to healthy controls (N=31, mean age: 15.6), on measures of ToM and processing speed. In contrast to controls, 22qDS participants did not show age-related improvements on measures of working memory and verbal knowledge. Notably, ToM performance was the best predictor of positive symptoms in 22qDS, accounting for 39% of the variance in symptom severity. Processing speed emerged as the best predictor of negative symptoms, accounting for 37% of the variance in symptoms. Given that ToM was a robust predictor of positive symptoms in our sample, these findings suggest that social cognition may be a valuable intermediate trait for predicting the development of psychosis.

Social Impairments in Chromosome 22q11.2 Deletion Syndrome (22q11.2DS): Autism Spectrum Disorder or a Different Endophenotype?

“…Similar to children with idiopathic ASD, children with 22q11.2DS have difficulties with social competency, with weaknesses in perspective taking, theory of mind (ToM) (Ho et al 2012; Jalbrzikowski et al 2012), and non-verbal communication. Many of these difficulties may be explained by multiple factors, including developmental delay, with conceptual immaturity relative to peers.…”

Altered Brain Structure-Function Relationships Underlie Executive Dysfunction in 22q11.2 Deletion Syndrome

“…All interviews were conducted by psychology PhD candidates who had undergone extensive training and reliability procedures under the supervision of the senior author (C.E.B. ), as described in detail elsewhere [24,50,51]. …”

Perspectives actuelles dans la microdélétion 22q11.2 : prise en charge du phénotype neurocomportemental

“…Sachant qu'un lien existe entre symptomatologie et reconnaissance des émotions faciales chez le patient souffrant de schizophrénie [20], il est envisageable que les déficits observés chez les patients souffrant d'une microdélétion 22q11.2 soient de même nature. Bien que plus récemment mise en évidence et moins largement évaluée, la cognition sociale est une composante essentielle des dysfonctionnements cognitifs observés chez les patients souffrant de microdélétion 22q11.2 [21]. Elle englobe toute activité mentale de traitement de l'information sociale dans le but de reconnaître et comprendre les états mentaux d'autrui, notamment l'attribution des intentions, l'empathie ou encore la reconnaissance des émotions faciales.…”

“…Les troubles de la cognition sociale sont une piste intéressante pour comprendre la transition psychotique dans le 22q11DS [21]. Cependant, les aspects neurodéve-loppementaux de ce déficit ainsi que les liens avec les dysfonctionnements neurocognitifs ne sont pas encore clairement élucidés.…”