Behavior and corpus callosum morphology relationships in velocardiofacial syndrome (22q11.2 deletion syndrome)

Velocardiofacial syndrome (VCFS) is a neurodevelopmental disorder caused by a microdeletion on chromosome 22q11.2 that predisposes affected individuals to learning disabilities and psychiatric conditions. Previous research has indicated that compared with comparison children, children with VCFS have larger corpus callosal areas. Children with VCFS are often diagnosed with comorbid attention deficit hyperactivity disorder (ADHD), and previous research has indicated that children with ADHD often have smaller corpus callosal areas than controls. The present study investigated two hypotheses: children with VCFS would have larger callosal areas than controls, and children with VCFS + ADHD would have smaller callosal areas than children with VCFS. Corpus callosum area was obtained from the mid-sagittal slice and was assessed in children with VCFS (n=60) and age- and gender-matched control participants (n = 52). Results indicated that all of the corpus callosum measures were significantly different between the two groups except for the genu. Across all measures, children with VCFS demonstrated a larger corpus callosum area. Within the VCFS sample, children with VCFS + ADHD (n = 30) had smaller total callosal, splenium, and genu areas than children with VCFS alone. Although children with VCFS + ADHD had smaller total callosal areas than children with VCFS, relative to control participants, these children had larger total callosal and subregion areas except for the genu. In addition to other anatomic anomalies, corpus callosal abnormalities appear to be another variable to consider when analyzing brain/behavior relations in this population.