Neuropsychological profile of Italian children and adolescents with 22q11.2 deletion syndrome with and without intellectual disability

Stefano Vicari, Manuela Mantovan, Francesca Addona, Floriana Costanzo, Lorena Verucci, Deny Menghini

Research output: Contribution to journalArticlepeer-review


As individuals with chromosome 22q11.2 deletion syndrome (22q11DS) show a wide range of IQs, intellectual heterogeneity could mask the neuropsychological profile of the syndrome. This study was designed to identify specific neuropsychological features of children and adolescents with 22q11DS by taking into account the possible source of variability deriving from intellectual disability (ID). First, we compared several neuropsychological domains involving linguistic, visual-motor/visual-perceptual and memory abilities in 34 children and adolescents with 22q11DS and 83 mental age-matched typically developing (TD) participants. Then, we selected participants with 22q11DS according to whether or not they had ID and compared their neuropsychological profiles with those of chronological age-matched TD controls. Although language and several aspects of memory have been found impaired only in children with 22q11DS with ID, deficits in visualspatial abilities and visual-object short-term memory persist in participants without ID and might be considered a characteristic of 22q11DS, not just related to the presence of ID. On the basis of our findings, children and adolescents with 22q11DS cannot be considered as a single group with a homogeneous neuropsychological profile and must be studied in relation to their global intellectual abilities.

Original languageEnglish
Pages (from-to)287-298
Number of pages12
JournalBehavior Genetics
Issue number2
Publication statusPublished - Mar 2012


  • Developmental disorders
  • Intellectual disability
  • Neuropsychological profile
  • Velo-cardio-facial syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Ecology, Evolution, Behavior and Systematics

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