Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2)

Wendy R. Kates, Courtney P. Burnette, Brandy A. Bessette, Bradley S. Folley, Leslie Strunge, Ethylin Jabs, Godfrey D. Pearlson

    Research output: Contribution to journalArticlepeer-review

    87 Scopus citations


    This study investigated the morphology of the frontal lobe and the caudate nucleus in velocardiofacial syndrome, a neurogenetic disorder caused by a microdeletion at chromosome 22q11.2 and frequently associated with severe psychiatric disturbances. Volumes of the caudate nucleus and subregions of the frontal lobe were compared on magnetic resonance images of 10 children with velocardiofacial syndrome and 10 age- and gender-matched controls. Frontal deep white matter was reduced significantly (by about 23%) in subjects with velocardiofacial syndrome relative to controls. Frontal and pre-frontal volumes were also reduced in subjects with velocardiofacial syndrome, although not disproportionately to whole brain volume. The volume of the right caudate nucleus was increased in children with velocardiofacial syndrome. Associations between right caudate and right frontal regions were noted in controls but not in children with velocardiofacial syndrome. These findings suggest frontostriatal dysfunction in children with velocardiofacial syndrome. Insofar as up to 30% of adults with velocardiofacial syndrome (also known as chromosome 22q11 deletion syndrome) develop schizophrenia and frontostriatal dysfunction has been noted in schizophrenia, the findings support the hypothesis that velocardiofacial syndrome might represent a neurodevelopmental model of schizophrenia.

    Original languageEnglish (US)
    Pages (from-to)337-342
    Number of pages6
    JournalJournal of child neurology
    Issue number5
    StatePublished - May 2004

    ASJC Scopus subject areas

    • Pediatrics, Perinatology, and Child Health
    • Clinical Neurology


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