Negative Psychotic Symptoms in 22q11.2 Deletion and Their Association with Neuropsychological Profile

Abstract

22q11.2 deletion syndrome (22q11.2 DS) is associated with a markedly elevated risk for schizophrenia spectrum disorders. The role of negative symptoms in the pathogenesis of schizophrenia in this population and their link to role, social and cognitive functioning is still unclear. Aims of this study were investigate the association between negative symptoms, social and role functioning and neurocognitive performance in the sample of individuals with 22q11.2DS and compare them to healthy controls. The study was conducted on a sample of 60 individuals with 22q11.2DS (mean age = 14.8; SD = 4.8) and 56 healthy control (HC) participants (mean age = 13.8; SD = 5.4). Individuals with 22q11DS and high level of negative symptoms showed significantly higher level of impairment in several neurocognitive domain (i.e. visuospatial abilities, verbal response inhibition) compared with individuals with 22q11DS and low level of negative symptoms and healthy controls. They showed also lower global functioning, specifically role functioning and not social functioning. Negative symptoms are frequent in 22q11.2DS and are associated with specific cognitive deficit and low role functioning. These results suggest that negative symptoms should be considered an important target in the assessment of risk of conversion to full-blown psychosis and in planning of psychological interventions for this population.Disclosure of interestThe authors have not supplied their declaration of competing interest.