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.
Rockers
K
K
Emory University School of Medicine, Department of Human Genetics, Emory Autism Center, Atlanta, GA 30322, USA. krockers@genetics.emory.edu
Ousley
O
O
Sutton
T
T
Schoenberg
E
E
Coleman
K
K
Walker
E
E
Cubells
J F
JF
D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003072:Cognition Disorders / Q000235:genetics* / Q000523:psychology; D003657:Decision Making; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000523:psychology*; D007389:Internal-External Control; D008297:Male; D001523:Mental Disorders / Q000235:genetics* / Q000523:psychology*; D009483:Neuropsychological Tests / Q000706:statistics & numerical data*; D011340:Problem Solving; D011569:Psychiatric Status Rating Scales; D011594:Psychometrics / Q000706:statistics & numerical data; D011599:Psychopathology; D012016:Reference Values; D012559:Schizophrenia / Q000235:genetics*; D012565:Schizophrenic Psychology; D012569:Schizotypal Personality Disorder / Q000235:genetics* / Q000523:psychology*; D013577:Syndrome; D055815:Young Adult