Despite entailing more severe and uncommon side effects in 22q11.2DS compared to idiopathic schizophrenia, we strongly believe that clozapine should continue to be considered the gold standard for all treatment‐resistant schizophrenia, even in 22qDS.
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
44 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.
Introduction22q11.2 Deletion Syndrome (22q11.2DS) represents a congenital syndrome with several clinical features. It entails a 25% risk of psychotic onset in lifespan. 22q11.2DS is a reliable model for biological vulnerability to schizophrenia.ObjectivesWith the hypothesis of similar impairments in schizophrenia and 22q11DS, to investigate a possible correlation between Social Cognition (SC) and Interpersonal Functioning (FU).MethodsSample consists of 1735 adults: 893 schizophrenic subjects (SCZ); 18 with 22q11.2DS and psychosis (DEL_SCZ); 44 22q11.2DS individuals (DEL); 780 healthy controls (HC). SCZ and HC data come from a multicentric study by Network for Research on Psychoses. SC was assessed with The Awareness of Social Interference Test (TASIT, consisting of three sections: T1= Emotion Recognition; T2=Minimal Social Inference; T3=Social Inference Enriched). The Specific Levels of Functioning (SLOF) interview was employed.ResultsDEL_SCZ (p<0.001) and SCZ (p<0.001) showed impairments in each TASIT sections compared to HC. Significant deficits in interpersonal functioning area were found in SCZ (p<0.001) compared to HC. The interpersonal functioning domain showed a positive correlation with SC in HC (T1: r=0.097; p<0.001; T2: r=0.120; p=0.001; T3: r=0.121; p=0.001); DEL (T1: r=0.380; p=0.024; T2: r=0.466; p=0.005) and SCZ (T1: r=0.113, p=0.001; T2: r=0.110, p=0.001; T3: r=0.134; p<0.001).ConclusionsSC deficits both in subjects with 22q11.2DS and in people with schizophrenia suggest a role of endophenotypes. SC is directly correlated to interpersonal functioning in 22q11.2DS without psychosis and people with schizophrenia. DEL_SCZ may suffer from deeper cognitive and symptomatic conditions that both impact differently on FU.
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