title: Specific cerebellar reductions in children with chromosome 22q11.2 deletion syndrome.
abstract: Children with chromosome 22q11.2 deletion syndrome commonly are found to have morphological brain changes, cognitive impairments, and elevated rates of psychopathology. One of the most commonly and consistently reported brain changes is reduced cerebellar volume. Here, we demonstrate that, in addition to the global cerebellum reductions previously reported, volumetric reductions of the anterior lobule and the vermal region of the neo-cerebellum in the mid-sagittal plane best differentiate children with the deletion from typically developing children. These results suggest that the morphological changes of specific portions of the cerebellum may be an important underlying substrate of cognitive impairments and increased incidence of psychopathology in this group.
authors.affiliation: Children's Hospital of Philadelphia, USA. jbish@ursinus.edu
authors.forename: Joel P
authors.initials: JP
authors.lastname: Bish
authors.forename: Akshay
authors.initials: A
authors.lastname: Pendyal
authors.forename: Lijun
authors.initials: L
authors.lastname: Ding
authors.forename: Heather
authors.initials: H
authors.lastname: Ferrante
authors.forename: Vy
authors.initials: V
authors.lastname: Nguyen
authors.forename: Donna
authors.initials: D
authors.lastname: McDonald-McGinn
authors.forename: Elaine
authors.initials: E
authors.lastname: Zackai
authors.forename: Tony J
authors.initials: TJ
authors.lastname: Simon
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology / Q000503:physiopathology; D002531:Cerebellum / Q000473:pathology* / Q000503:physiopathology*; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003072:Cognition Disorders / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male