LAUSR

Background Negative symptoms and social dysfunction are core features of the 22q11.2 deletion syndrome (22q11DS). Negative symptoms have been conceptualized as pathology of goal-directed-behaviors. Moreover, goal-directed-behaviors also appear to be a crucial step of social interactions. However, in 22q11DS, the extent to which goal-directed-behavior could be linked to social functioning difficulties and negative symptoms has never been examined. Method Verbal and nonverbal initiation was measured using the verbal fluency and figural fluency tasks in 93 individuals with 22q11DS and 57 healthy controls aged between 8 and 30 years in order to assess goal-directed-behavior ability. The associations between initiation scores and social functioning/negative symptoms were investigated. In addition, the effect of COMT Val/Met polymorphism on initiation competences was examined. Results Results revealed diminished verbal and nonverbal initiation ability in 22q11DS individuals compared to controls. A positive correlation between verbal initiation and social functioning was found as well as between verbal initiation and negative symptoms, in particular social anhedonia. No differences in terms of initiation scores were found between individuals with 22q11DS carrying Met and Val polymorphism. Conclusion Results indicate impaired goal-directed-behavior in the 22q11DS population. These deficits seem to support social functioning impairments frequently observed in the 22q11DS and to a lesser extent the expression of negative symptoms.