Neurocognitive Functioning in Patients with 22q11.2 Deletion Syndrome: A Meta-Analytic Review

Behav Genet. 2018 Jul;48(4):259-270. doi: 10.1007/s10519-018-9903-5. Epub 2018 Jun 19.


The 22q11.2 deletion syndrome (22q11.2DS) is a known risk factor for development of schizophrenia and is characterized by a complex neuropsychological profile. To date, a quantitative meta-analysis examining cognitive functioning in 22q11.2DS has not been conducted. A systematic review of cross-sectional studies comparing neuropsychological performance of individuals with 22q11.2DS with age-matched healthy typically developing and sibling comparison subjects was carried out. Potential moderators were analyzed. Analyses included 43 articles (282 effects) that met inclusion criteria. Very large and heterogeneous effects were seen for global cognition (d = - 1.21) and in specific neuropsychological domains (intellectual functioning, achievement, and executive function; d range = - 0.51 to - 2.43). Moderator analysis revealed a significant role for type of healthy comparison group used (typically developing or siblings), demographics (age, sex) and clinical factors (externalizing behavior). Results revealed significant differences between pediatric and adult samples, with isolated analysis within the pediatric sample yielding large effects in several neuropsychological domains (intellectual functioning, achievement, visual memory; d range = - 0.56 to - 2.50). Large cognitive deficits in intellectual functioning and specific neuropsychological variables in individuals with 22q11.2DS represent a robust finding, but these deficits are influenced by several factors, including type of comparison group utilized, age, sex, and clinical status. These findings highlight the clinical relevance of characterizing cognitive functioning in 22q11.2DS and the importance of considering demographic and clinical moderators in future analyses.

Keywords: 22q11.2 Deletion syndrome; Cognitive; Meta-analysis; Neuropsychology; Velocardiofacial syndrome.

Publication types

  • Meta-Analysis
  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Child
  • Chromosomes, Human, Pair 22 / genetics
  • Cognition*
  • DiGeorge Syndrome / genetics*
  • DiGeorge Syndrome / psychology*
  • Executive Function*
  • Female
  • Humans
  • Male
  • Motor Skills
  • Schizophrenia / genetics
  • Sex Factors