Performance on the Modified Card Sorting Test and its relation to psychopathology in adolescents and young adults with 22q11.2 deletion syndrome

BACKGROUND: Approximately one-third of individuals with 22q11.2 deletion syndrome (22q11DS), a common genetic disorder highly associated with intellectual disabilities, may develop schizophrenia, likely preceded by a mild to moderate cognitive decline. METHODS: We examined adolescents and young adults with 22q11DS for the presence of executive function deficits using a modified version of the Wisconsin Card Sorting Test (MCST) and assessed whether specific performances were associated with concurrent schizophrenia-prodrome symptoms. We also examined possible relationships between MCST performance and broader indices of psychopathology, including self-reported internalising and externalising behavioural symptoms. RESULTS: Participants with 22q11DS scored significantly below age-matched controls on seven out of nine MCST measures, and poorer MCST performance was associated with increased positive prodromal and internalising behavioural symptoms. CONCLUSIONS: The schizophrenia-prodrome in 22q11DS involves executive dysfunction, and longitudinal investigation is necessary to examine if specific executive function impairments precedes or co-occurs with the emergence of behavioural psychopathology.