Please use this identifier to cite or link to this item:
http://hdl.handle.net/1959.13/928838 - Executive functions and
memory abilities in children with 22q11.2 deletion syndrome
Campbell, Linda E.; Morris, Robin G.; Murphy, Declan G. M.;
Murphy, Kieran C. - The University of Newcastle. Faculty of
Health, School of Medicine and Public Health - Objective: Velo-
cardio-facial syndrome or 22q11.2 deletion syndrome (22q11DS) is
the most common known microdeletion syndrome. One of the genes
in the deleted region is the catechol-O-methyltransferase (COMT)
gene, which is thought to have significant effects on cognition
through its influence on dopamine metabolism. The aim of the
present study was to better characterize the cognitive phenotype
in a large cohort children with 22q11DS compared with sibling
controls and to investigate if the cognitive deficits in 22q11DS
were modulated by COMT expression. Method: The memory, executive
function and attentional abilities of children with 22q11DS (n =
50) compared to sibli