A quantitative MRI study of posterior fossa development in velocardiofacial syndrome

Background: Velocardiofacial syndrome (VCFS) has been identified as a risk factor for developing schizophrenia. Qualitative neuroimaging studies indicated that VCFS was frequently associated with abnormal development of structures in the posterior fossa of the brain. The objective of this investigation was to identify the specific structures affected in the posterior fossa and investigate the association of these neuroanatomic variations with behaviors potentially related to later-onset psychiatric disorders. Methods: Twenty-four children and adolescents with VCFS individually matched for age and gender with 24 control subjects received magnetic resonance imaging scans. Analysis of covariance models were used to investigate regional brain differences. Association between brain areas and behaviors measured on the Child Behavior Checklist (CBCL) were assessed using simple regression models. Results: Children with VCFS had significantly smaller size of vermal lobules VI–VII and the pons after adjusting for overall brain size. There were no significant associations between scores on the CBCL and measures of neuroanatomic variation within the VCFS group. Conclusions: Structural alterations of the posterior fossa in VCFS are specifically limited to cerebellar vermis lobules VI–VII and pons. Previous literature has suggested that the vermis is involved in social cognition, and alteration of lobules VI–VII could therefore partially explain the neurobehavioral profile associated with VCFS.