Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.13/928838

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Title
Executive functions and memory abilities in children with 22q11.2 deletion syndrome
Author/Creator
Campbell, Linda E.;  Azuma, Rayna;  Ambery, Fiona;  Stevens, Angela;  Smith, Anna;  Morris, Robin G.;  Murphy, Declan G. M.;  Murphy, Kieran C.
Institution
The University of Newcastle. Faculty of Health, School of Medicine and Public Health
Description
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 sibling controls (n = 31), were measured. Also, within children with 22q11DS, a preliminary exploration was carried out of the relationship between cognitive ability and COMT genotype. Results: Overall, the 22q11DS group had significantly reduced scores on tests of memory (especially in visual memory) and executive function (particularly in planning, working memory, and motor organization) compared with sibling controls. No association, however, was identified between COMT genotype and cognitive function. Conclusions: Although 22q11DS children have specific cognitive deficits, differences in COMT do not account for these findings.
Relation
Australian and New Zealand Journal of Psychiatry Vol. 44, Issue 4, p. 364-371
Publisher Link
http://dx.doi.org/10.3109/00048670903489882
Date
2010
Publisher
Informa Healthcare
Keyword(s)
22q11.2 deletion syndrome;  catechol-O-methyltransferase;  executive functions;  memory;  velo-cardio-facial syndrome
Resource Type
journal article
Identifier
http://hdl.handle.net/1959.13/928838
Identifier
ISSN:0004-8674
Reviewed
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Subject
"Australian and New Zealand Journal of Psychiatry"
 
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