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.
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.
Authors: R E Gur; J J Yi; D M McDonald-McGinn; S X Tang; M E Calkins; D Whinna; M C Souders; A Savitt; E H Zackai; P J Moberg; B S Emanuel; R C Gur Journal: Mol Psychiatry Date: 2014-01-21 Impact factor: 15.992
Authors: Paula C Goldenberg; Monica E Calkins; Jan Richard; Donna McDonald-McGinn; Elaine Zackai; Nandita Mitra; Beverly Emanuel; Marcella Devoto; Karin Borgmann-Winter; Christian Kohler; Catherine G Conroy; Ruben C Gur; Raquel E Gur Journal: Am J Med Genet B Neuropsychiatr Genet Date: 2011-12-13 Impact factor: 3.568
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Authors: O Y Ousley; E Smearman; S Fernandez-Carriba; K A Rockers; K Coleman; E F Walker; J F Cubells Journal: Eur Psychiatry Date: 2013-08-02 Impact factor: 5.361