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DOI 10.1111/jir.13200

Медицинская библиотека · Journal of intellectual disability research : JIDR · 2024

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

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

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Аннотация

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.

Для цитирования: Accinni Tommaso, Frascarelli Marianna, Cordellieri Pierluigi, Kotzalidis Georgios D, Fanella Martina, Di Bonaventura Carlo, Putotto Carolina, Marino Bruno, Bucci Paola, Giuliani Luigi, Maraone Annalisa, Pasquini Massimo, Di Fabio Fabio, Buzzanca Antonino, Italian Network for Research on Psychoses. Real-Life Functioning in 22q11.2 Deletion Syndrome in Relation to Neurocognitive Abilities and Psychotic Symptoms: A Comparison With Idiopathic Schizophrenia.. Journal of intellectual disability research : JIDR. 2024. DOI: 10.1111/jir.13200.

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