Structural brain abnormalities associated with deletion at chromosome 22q11

Quantitative neuroimaging study of adults with velo-cardio-facial syndrome*

VAN AMELSVOORT, THERESE
DALY, EILEEN
ROBERTSON, DENE
SUCKLING, JOHN
NG, VIRGINIA
CRITCHLEY, HUGO
OWEN, MICHAEL J.
HENRY, JAYNE
MURPHY, KIERAN C.
MURPHY, DECLAN G. M.

THERESE VAN AMELSVOORT, MRCPsych, EILEEN DALY, BSc, DENE ROBERTSON, MRCPsych, JOHN SUCKLING, PhD, VIRGINIA NG, FRCR, HUGO CRITCHLEY, MRCPsych, MICHAEL J. OWEN, FRCPsych, JAYNE HENRY, DClinPsy, KIERAN C. MURPHY, MRCPsych, DECLAN G. M. MURPHY, MRCPsych, Department of Psychological Medicine, Institute of Psychiatry, London

*Preliminary data were presented at the Annual Meeting of the Society for Biological Psychiatry, Washington, DC, 13-15 May 1999.

Correspondence: Therese van Amelsvoort, Department of Psychological Medicine, Institute of Psychiatry, De Crespigny Park, London SE5 8AF, UK. Tel: 020 7848 0785; Fax: 020 7848 0650; e-mail: [email protected]

(First received 7 August 2000, accepted 25 October 2000)

British Journal of Psychiatry 178:p 412-419, May 2001.

Background

Velo-cardio-facial syndrome (VCFS) is associated with deletions in the q11 band of chromosome 22, learning disability and psychosis, but the neurobiological basis is poorly understood.

Aims

To investigate brain anatomy in adults with VCFS.

Method

Magnetic resonance imaging was used to study 10 patients with VCFS and 13 matched controls. We carried out three analyses: qualitative; traced regional brain volume; and measurement of grey and white matter volume.

Results

The subjects with VCFS had: a high prevalence of white matter hyperintensities and abnormalities of the septum pellucidum; a significantly smaller volume of cerebellum; and widespread differences in white matter bilaterally and regional specific differences in grey matter in the left cerebellum, insula, and frontal and right temporal lobes.

Conclusions

Deletion at chromosome 22q11 is associated with brain abnormalities that are most likely neurodevelopmental and may partially explain the high prevalence of learning disability and psychiatric disorder in VCFS.

Declaration of interest

This study was funded partially by the Theodore and Vada Stanley Foundation and the Medical Research Council.