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. 2021 Nov 10;3(1):sgab049.
doi: 10.1093/schizbullopen/sgab049. eCollection 2022 Jan.

Social Cognition Impairments in 22q11.2DS Individuals With and Without Psychosis: A Comparison Study With a Large Population of Patients With Schizophrenia

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Social Cognition Impairments in 22q11.2DS Individuals With and Without Psychosis: A Comparison Study With a Large Population of Patients With Schizophrenia

Tommaso Accinni et al. Schizophr Bull Open. .

Abstract

Background: 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.

Methods: 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.

Results: All clinical groups (DEL; DEL_SCZ; and SCZ) showed worse performance on TASIT than HCs, except in Sincere scale. No differences between-clinical groups were found, except for Simple Sarcasm, Paradoxical Sarcasm and Enriched Sarcasm scales.

Conclusions: 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.

Keywords: 22q11.2 deletion syndrome (22q11.2DS); Italian Network for Research on Psychoses; neurocognition; psychosis; schizophrenia; social cognition; social inference; theory of mind.

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Figures

Fig. 1.
Fig. 1.
Profile of the performances on the seven TASIT scales for each group. All variables were standardized with respect to the HC group, considered as the normative sample represented as the 0 line. Values are expressed in standard deviation units with respect to the normative sample (z-scores). Negative values indicate poorer performance with respect to the normative sample.

References

    1. Botto LD, May K, Fernhoff PM, et al. . A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics. 2003;112(1 Pt 1):101–107. - PubMed
    1. Robin NH, Shprintzen RJ. Defining the clinical spectrum of deletion 22q11.2. J Pediatr. 2005;147(1):90–96. - PubMed
    1. McDonald-McGinn DM, Sullivan KE, Marino B, et al. . 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015;1:15071. - PMC - PubMed
    1. Papangeli I, Scambler P. The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1. Wiley Interdiscip Rev Dev Biol. 2013;2(3):393–403. - PubMed
    1. Bassett AS, Chow EW, Husted J, et al. . Clinical features of 78 adults with 22q11 Deletion Syndrome. Am J Med Genet A. 2005;138(4):307–313. - PMC - PubMed

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