EPV1500 - Clinical Profile and Social Cognition in Patients with Psychotic Symptoms Related to DiGeorge Syndrome: A Case-Control Study.
EPV1500
Clinical Profile and Social Cognition in Patients with Psychotic Symptoms Related to DiGeorge Syndrome: A Case-Control Study.
I. Berardelli 1, A. Comparelli 1, S. Sarubbi 1, C. Berni 2, M. D'orsi 2,*, F. Formica 2, R. Iannazzo 2, F. Schirripa 2, M. Pompili 1
1Department of Neurosciences, Mental Health and Sensory Organs, Faculty of Medicine and Psychology, Suicide Prevention Centre, Sant’Andrea Hospital, Sapienza University of Rome, Via di Grottarossa, 1035, 00189, Rome, Italy, 2Psychiatry Residency Training Program, Faculty of Medicine and Psychology, Sapienza University of Rome, Psychiatry Unit, Sant’Andrea Hospital,00185, Rome, Italy, Rome, Italy
Introduction: 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