Abstract

Background22q11DS is the most common microdeletion with an incidence of 1:4000 live births. It is considered a genetic biological model for psychosis vulnerability: 25–28% of 22q11DS adults is affected by a psychotic disorder. Few data are available regarding functioning in 22q11DS. Our aim was to test the hypothesis that functioning is similar in 22q11DS psychotic and non-psychotic patients, and idiopathic schizophrenic subjects. We expected also a correlation between negative symptoms and functioning.MethodsData come from Italian Network for Research on Psychoses for the Schizophrenic (SCZ, N=252) and Control groups (HC, N=110). 22q11DS psychotic (22q11DS_SCZ, N=21) and non-psychotic patients (22q11DS, N=23) were enrolled at Policlinico Umberto I, in Rome. The SLOF scale (Specific Levels of Functioning) and the Brief Negative Symptom Scale interview (BNSS) were employed.ResultsThe Global Functioning was significantly different between all groups but not between 22q11DS groups and SCZ. The multivariate analysis of variance showed the higher effect size for the Interpersonal Functioning, in which differences resulted significant between all groups, except for the comparison between 22q11DS-SCZ and SCZ. Differences between groups in BNSS were significant except for the post-hoc 22q11DS-SCZ vs SCZ. Global and Interpersonal Functioning showed a significant negative correlation with BNSS scores in the three clinical groups.Discussion22q11DS-SCZ showed a severe deficit in Interpersonal Functioning, similar to that of idiopathic schizophrenia. 22q11DS showed a deficit in Interpersonal Functioning respect to control group, but less severe than psychotic groups. Our data suggest a common impairment shared among the clinical groups, that may be the functional correlate of an underlying neurobiological mechanism.

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