Meta-analysis of magnetic resonance imaging studies in chromosome 22q11.2 deletion syndrome (velocardiofacial syndrome)
Received 24 May 2009; received in revised form 12 August 2009; accepted 7 September 2009. published online 12 October 2009.
Abstract
Objectives
22q11.2 deletion syndrome (22q11.2DS), also known as velocardiofacial syndrome (VCFS) or DiGeorge Syndrome, is a genetic disorder due to a micro deletion on chromosome 22q11.2. VCFS is associated with abnormalities in brain structure and with an increased risk of psychiatric disorders, particularly schizophrenia. The aim of this review was to statistically summarize the structural imaging literature on VCFS which due to the relatively rarity of the disorder tends to consider small sample sizes.
Method
A systematic review and meta-analysis of region of interest (ROI) studies comparing VCFS with healthy controls was carried out. Significant heterogeneity was explored using meta-regression.
Results
Subjects with VCFS were characterised by global brain volumetric reduction including several cortical regions, cerebellum and hippocampus. The area of the corpus callosum was increased.
Conclusions
Many regions extensively studied in schizophrenia were not covered in the existing VCFS literature. However, the studies considered support volumetric abnormalities which may help explain why VCFS is associated with a greatly increased risk of psychosis and other psychiatric disorders.
aSection of Brain Maturation, PO Box 50, Division of Psychological Medicine & Psychiatry, Institute of Psychiatry at the Maudsley, King's College London, De Crespigny Park, London, SE5 8AF, United Kingdom
bNeuroscience and Psychiatry Unit, Stopford Building, Manchester, United Kingdom
cUniversity of Edinburgh, Royal Edinburgh Hospital, Edinburgh, United Kingdom
dUniversity Department of Psychiatry, Oxford, United Kingdom
Corresponding author. Neuroscience and Psychiatry Unit, University of Manchester, G810 Stopford Building, Oxford Road, Manchester, M13 9PT, United Kingdom.
ABSTRACT