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9 - Neuroimaging in velo-cardio-facial syndrome

Published online by Cambridge University Press:  11 August 2009

By
Stephan Eliez  and
Therese van Amelsvoort
Edited by
Kieran C. Murphy  and
Peter J. Scambler
Stephan Eliez
Affiliation:
Division of Child and Adolescent Psychiatry, Geneva University School of Medicine, Switzerland
Therese van Amelsvoort
Affiliation:
Department of Psychiatry, Academic Medical Centre, Amsterdam, Holland
Kieran C. Murphy
Affiliation:
Education and Research Centre, Royal College of Surgeons of Ireland
Peter J. Scambler
Affiliation:
Institute of Child Health, University College London
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Summary

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).

Keywords

cross-sectional data analysisgene expressiongenetic disordergenomic deletionschizophreniastructural alterationimprintingneuroimagingvelo-cardio-facial syndrome
Type
Chapter
Information
Velo-Cardio-Facial Syndrome
A Model for Understanding Microdeletion Disorders
 , pp. 165 - 180
Publisher: Cambridge University Press
Print publication year: 2005

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