Accinni Tommaso, Buzzanca Antonino, Frascarelli Marianna, Carlone Luca, Ghezzi Francesco, Kotzalidis Georgios D, Bucci Paola, Giordano Giulia Maria, Girardi Nicoletta, Panzera Alessia, Montaldo Simone, Fanella Martina, Di Bonaventura Carlo, Putotto Carolina, Versacci Paolo, Marino Bruno, Pasquini Massimo, Biondi Massimo, Di Fabio Fabio
Department of Human Neurosciences, Sapienza University of Rome, Faculty of Medicine and Dentistry, Rome, Italy.
Department of Neurosciences, Mental Health and Sensory Organs, Sapienza University, Faculty of Medicine and Psychology, Rome, Italy.
Schizophr Bull Open. 2021 Nov 10;3(1):sgab049. doi: 10.1093/schizbullopen/sgab049. eCollection 2022 Jan.
22q11.2 Deletion Syndrome (22q11DS) represents one of the most important genetic risk factors for schizophrenia (SCZ) and a reliable biological model to study endophenotypic characters of SCZ. The aim of the study was to investigate Social Cognition impairments in subjects with 22q11.2DS compared to a considerable sample of schizophrenic patients.
Forty-four individuals with 22q11.2DS (DEL) and 18 patients with 22q11.2DS and psychosis (DEL_SCZ) were enrolled; these groups were compared to 887 patients with schizophrenia (SCZ) and 780 healthy controls (HCs); the latter groups were recruited by the Italian Network for Research on Psychoses (NIRP) to which our Centre took part. Social cognition was evaluated through The Awareness of Social Inference Test (TASIT). A resampling procedure was employed to balance differences in samples size.
All clinical groups (DEL; DEL_SCZ; and SCZ) showed worse performance on TASIT than HCs, except in scale. No differences between-clinical groups were found, except for and scales.
SC was impaired in individuals with 22q11.2DS regardless of psychotic symptomatology, similarly to people with SCZ. Therefore, SC deficits may represent potential endophenotypes of SCZ contributing to the vulnerability to psychosis.
22q11.2缺失综合征（22q11DS）是精神分裂症（SCZ）最重要的遗传风险因素之一，也是研究SCZ内表型特征的可靠生物学模型。本研究旨在调查与相当数量的精神分裂症患者相比，22q11.2DS患者的社会认知障碍情况。
招募了44名22q11.2DS患者（DEL）和18名患有22q11.2DS且伴有精神病的患者（DEL_SCZ）；将这些组与887名精神分裂症患者（SCZ）和780名健康对照者（HCs）进行比较；后两组由意大利精神病研究网络（NIRP）招募，我们中心参与其中。通过社会推理意识测试（TASIT）评估社会认知。采用重采样程序来平衡样本量的差异。
除[具体量表名称]量表外，所有临床组（DEL；DEL_SCZ；和SCZ）在TASIT上的表现均比HCs差。除了[具体量表名称]和[具体量表名称]量表外，未发现临床组之间存在差异。
与SCZ患者相似，22q11.2DS患者无论有无精神病症状，其社会认知均受损。因此，社会认知缺陷可能是SCZ的潜在内表型，导致易患精神病。
