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Comparative Study
. 2025 Mar;69(3):177-192.
doi: 10.1111/jir.13200. Epub 2024 Nov 29.

Real-Life Functioning in 22q11.2 Deletion Syndrome in Relation to Neurocognitive Abilities and Psychotic Symptoms: A Comparison With Idiopathic Schizophrenia

Tommaso Accinni  1 , Marianna Frascarelli  1 , Pierluigi Cordellieri  2 , Georgios D Kotzalidis  3 , Martina Fanella  1 , Carlo Di Bonaventura  1 , Carolina Putotto  4 , Bruno Marino  4 , Paola Bucci  5 , Luigi Giuliani  5 , Annalisa Maraone  1 , Massimo Pasquini  1 , Fabio Di Fabio  1 , Antonino Buzzanca  1 ; Italian Network for Research on Psychoses
Affiliations
Comparative Study

Real-Life Functioning in 22q11.2 Deletion Syndrome in Relation to Neurocognitive Abilities and Psychotic Symptoms: A Comparison With Idiopathic Schizophrenia

Tommaso Accinni et al. J Intellect Disabil Res. 2025 Mar.

Abstract

Background: The 22q11.2 deletion syndrome (22q11.2DS) entails intellectual disabilities and higher risk of psychotic disorders. Neurocognitive deficits predict real-life functioning of schizophrenic patients. We investigated real-life functioning in 22q11.2DS, aiming at defining how neurocognitive profile and psychopathological variables impact on psychotic patients' social functioning.

Methods: We recruited 63 patients with schizophrenia (SCZ, N = 63), 44 with 22q11.2DS (DEL, N = 44) and 19 with 22q11.2DS and psychosis (DEL-SCZ, N = 19), all matched for age, sex and neurocognitive profile; we administered the Positive and Negative Syndrome Scale (PANSS), the Brief Negative Symptom Scale (BNSS), the Specific Levels of Functioning (SLoF) scale and the Measurement and Treatment Research to Improve Cognition in Schizophrenia Consensus Cognitive Battery (MCCB). We implemented descriptive analyses, MANCOVA and linear regression statistics.

Results: The DEL-SCZ and the SCZ groups showed similar levels in Interpersonal Relationships (p = 0.093) and Social Acceptability subscales (p = 0.283). The DEL group scored higher on the Interpersonal Relationships subscale compared with the SCZ group (p = 0.001). The groups scored similarly on the other SLoF subscales. Both BNSS total score (beta = -0.343; p = 0.004) and BNSS asociality (beta = -0.487; p = 0.038) significantly predicted the Interpersonal Relationships variable in the groups with psychosis (SCZ and DEL-SCZ).

Discussion and conclusions: Individuals with 22q11.2DS display a similar real-life functioning to patients with chronic schizophrenia. Social functioning impairments are typical of psychosis regardless of the genetic condition and highly predicted by negative symptoms like asociality. The 22q11.2DS represents a reliable biological model to study vulnerability to psychosis and its consequences on patients' real-life and social functioning.

Keywords: 22q11.2 deletion syndrome; neurocognition; psychosis; real‐life functioning; schizophrenia; social functioning.

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Conflict of interest statement

The authors declare no conflicts of interest.

Figures

FIGURE 1
FIGURE 1
Partial regression plot showing a negative correlation between the SLoF Interpersonal Relationships subscale and the BNSS total score in the psychotic groups (DEL–SCZ + SCZ); BNSS_tot, the Brief Negative Symptoms Scale total score; SLOF_interpers, the Specific Levels of Functioning scale (SLoF) interpersonal functioning.
FIGURE A1
FIGURE A1
Scatterplots of the interaction between T_SLOF_perscare (SLoF Personal Care) and T_MATRICS_Comp (MCCB composite score).
FIGURE A2
FIGURE A2
Scatterplots of the interaction between T_SLOF_interpers (SLoF Interpersonal Relationships) and T_MATRICS_Comp (MCCB composite score).
FIGURE A3
FIGURE A3
Scatterplots of the interaction between T_SLOF_socaccet (SLoF Social Acceptability) and T_MATRICS_Comp (MCCB composite score).
FIGURE A4
FIGURE A4
Scatterplots of the interaction between T_SLOF_activities (SLoF Activities) and T_MATRICS_Comp (MCCB composite score).
FIGURE A5
FIGURE A5
Scatterplots of the interaction between T_SLOF_work (SLoF Work Skills) and T_MATRICS_Comp (MCCB composite score).
See this image and copyright information in PMC

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