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

IF 2.1 2区医学 Q1 EDUCATION, SPECIAL Journal of Intellectual Disability Research Pub Date : 2024-11-29 DOI:10.1111/jir.13200

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

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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.

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来源期刊

Journal of Intellectual Disability Research Multiple-

CiteScore

5.60

自引率

5.60%

发文量

期刊介绍： The Journal of Intellectual Disability Research is devoted exclusively to the scientific study of intellectual disability and publishes papers reporting original observations in this field. The subject matter is broad and includes, but is not restricted to, findings from biological, educational, genetic, medical, psychiatric, psychological and sociological studies, and ethical, philosophical, and legal contributions that increase knowledge on the treatment and prevention of intellectual disability and of associated impairments and disabilities, and/or inform public policy and practice. Expert reviews on themes in which recent research has produced notable advances will be included. Such reviews will normally be by invitation.