Executive functions and memory abilities in children with 22q11.2 deletion syndrome

Linda E. Campbell, Rayna Azuma, Fiona Ambery, Angela Stevens, Anna Smith, Robin G. Morris, Declan G.M. Murphy, Kieran C. Murphy

Research output: Contribution to journalArticlepeer-review

55 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)364-371
Number of pages8
JournalAustralian and New Zealand Journal of Psychiatry
Issue number4
Publication statusPublished - 2010
Externally publishedYes


  • 22q11.2 deletion syndrome
  • Catechol-O-methyltransferase
  • Executive functions
  • Memory
  • Velo-cardio-facial syndrome

ASJC Scopus subject areas

  • Psychiatry and Mental health


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