Disentangling Psychopathology and Social Cognition in 22q11.2 Deletion Syndrome with Psychotic Symptoms and Schizophrenia

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Abstract Background: 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion disorder and represents one of the strongest known genetic risk factors for psychosis. Social cognition (SC) deficits are a core feature of schizophrenia and are strongly associated with functional outcomes. In individuals affected by 22q11.2DS and psychotic symptoms, SC impairments may emerge early; however, direct comparisons between patients with 22q11.2DS with psychotic symptoms and those with schizophrenia remain limited. Methods: In this case–control study, we investigated 21 patients with 22q11.2DS and active psychotic symptoms and 21 outpatients with schizophrenia and active psychotic symptoms recruited from the outpatient clinics of Sant’Andrea Hospital, Rome. Psychopathology was assessed using the Positive and Negative Syndrome Scale (PANSS), and cognitive and social cognitive functioning were evaluated using the Cognitive Assessment Interview. Results: Patients with schizophrenia showed significantly higher severity of positive, general, cognitive, excitement, and depression symptoms (all P < .05). In contrast, patients with 22q11.2DS exhibited more pronounced SC impairment (U = 81.00, P < .001). In the 22q11.2DS group, SC was associated with multiple cognitive and clinical domains, including working memory, attention/vigilance, processing speed, reasoning/problem solving, and PANSS total score. Correlation analyses further revealed stronger associations between negative symptoms and cognitive domains in 22q11.2DS group compared with schizophrenia group. Conclusions: In this study, patients with 22q11.2DS and patients with schizophrenia showed partially distinct profiles of psychopathology and SC. While schizophrenia was characterized by greater overall symptom severity, 22q11.2DS was associated with more pronounced social cognitive impairment.

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