Introduction

An increase in the number of publications reporting on the neuropsychiatric aspects of VCFS has been observed over the past 5 years and this is likely attributable to data suggesting that VCFS may represent a homogenous genetic subtype of schizophrenia (Bassett & Chow, 1999). The understanding of brain function and development, similar to investigating other neurogenetic or psychiatric conditions, is a necessary step for our comprehension of the cognitive, behavioral, and psychiatric phenotypes associated with VCFS (see Chapters 7 and 8). In this chapter we will discuss the currently available neuroimaging literature in people with VCFS, and how this contributes to our understanding of the neurobiology of schizophrenia in the general population.

Qualitative MRI studies in VCFS

Early neuroimaging reports emphasized qualitative differences in brain structures associated with VCFS (Mitnick et al., 1994). In addition to overall brain and cortical atrophy, a high prevalence of midline defects like small corpus callosum, cavum septum pellucidum or cavum vergae, enlarged ventricles, cysts adjacent to the frontal horns of the ventricles, small posterior fossa and vermal atrophy, and white matter hyperintensities (WMHIs) have been described (Mitnick et al., 1994; Lynch et al., 1995; Vataja & Elomaa, 1998; Chow et al., 1999; van Amelsvoort et al. 2001). However, these brain abnormalities are also observed in non-VCFS schizophrenia or other people with a learning disability, and their clinical significance is not known (Schaefer & Bodensteiner, 1999; Rivkin et al., 2000; van Amelsvoort et al., 2001; Rajarethinam et al., 2001).