Phd in CLINICAL EXPERIMENTAL NEUROSCIENCE AND PSYCHIATRY

Thesis title: Social Cognition and Real-Life Functioning in a sample of 22q11 Deletion Syndrome subjects compared to a large population of patients with schizophrenia.

Background Social Cognition (SC) impairments are increasingly associated with functional outcome in schizophrenia. 22q11.2 DS show an increased risk of developing a psychotic illness during their lifespan and it may represent a reliable model for studying neurobiological underpinnings of schizophrenia. The study of social inference abilities in a genetic condition at high risk for psychosis as 22q11.2DS may shed light on interactions between neurocognitive processes and patients’ everyday general functioning. Methods The present study sample consisted in 1736 subjects, divided in 4 groups: 22q11.2DS patients with diagnosis of psychotic disorder (DelSCZ, N=20);22q11.2DS subjects with no diagnosis of psychosis (DEL, N=43); patients diagnosed with Schizophrenia without 22q11.2DS (SCZ, N=893); Healthy Controls with typical development (HC, N=780). SC was evaluated through The Awareness of Social Inference Test (TASIT); general functioning was assessed by employing The Specific Levels of Functioning scale (SLoF). A regression analysis was employed. Results SCZ group was found to have a similar level of global functioning respect to DEL group, and both had significantly lower SLoF Total score than HC (p<0.001). In the DelSCZ and SCZ groups TASIT score was a significant predictor of global functioning (p<0.05). Discussion Our findings showed similar deficits in global functioning between non-psychotic 22q11DS subjects and idiopathic schizophrenia patients, compared to a group of healthy controls; 22q11DS subjects with psychosis revealed an even more serious decline in functioning respect to the other clinical groups. Moreover, we observed that social cognition deficits were involved in the level of functioning of SCZ and DelSCZ subjects.