Clinical Profile and Social Cognition in Patients with Psychotic Symptoms Related to DiGeorge Syndrome: A Case-Control Study
I. Berardelli, A. Comparelli, S. Sarubbi, C. Berni, M. D’orsi, F. Formica, R. Iannazzo, F. Schirripa, M. PompiliIntroduction
The 22q11.2 deletion syndrome (22q11DS) is a genetic condition representing a model of vulnerability to psychotic disorders (schizophrenia and schizoaffective-like) and mood disorders. Affected individuals show also cognitive and social impairments that impact global functioning and quality of life.
Objectives
This case-control study examined the associations between psychopathological and cognitive domains in 22q11DS patients compared with non-syndromic schizophrenia, aiming to clarify how genetic vulnerability, cognitive functioning and social cognition (SC) interact to constitute an endophenotype of psychotic risk.
Methods
Forty-two patients with schizophrenia spectrum disorders were included: 21 with 22q11DS and 21 with non-syndromic schizophrenia, matched for sex and diagnosis. Cognitive domains were assessed with the Cognitive Assessment Interview (CAI), and psychotic symptoms were evaluated using the Positive and Negative Syndrome Scale (PANSS).
Results
Patients with idiopathic schizophrenia showed significantly higher severity of positive, general, cognitive, excitement, and depression symptoms (all p < .05). By contrast, patients with 22q11.2DS exhibited more pronounced SC impairment (U = 81.00, p < .001). In 22q11.2DS, SC correlated with multiple cognitive and clinical domains, including working memory, attention/vigilance, processing speed, reasoning/problem solving, and PANSS total score. Correlation analyses revealed significantly stronger links between negative symptoms and cognitive domains in 22q11.2DS compared to schizophrenia. Regression analysis identified verbal learning/memory as the only independent predictor of SC (β = .56, p = .010), explaining 86% of variance (R² = .86).
Conclusions
This case-control study suggests that in 22q11DS, genetic vulnerability translates into basic cognitive deficits that contribute to social-cognitive and functional impairment. The profile, partially distinct from idiopathic schizophrenia, emphasizes that social cognition should be a central target for clinical and rehabilitative interventions.
Disclosure of Interest
None Declared