Increased incidence and size of cavum septum pellucidum in children with chromosome 22q11.2 deletion syndrome

Abstract Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a result of a hemizygotic microdeletion that results in a variety of impairments in children including greater risk for psychiatric ailments in adulthood. We used high-resolution magnetic resonance imaging to accurately quantify the length...

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Bibliographic Details
Published in:Psychiatry research. Neuroimaging 2010-02, Vol.181 (2), p.108-113
Main Authors: Beaton, Elliott A, Qin, Yufeng, Nguyen, Vy, Johnson, Joel, Pinter, Joseph D, Simon, Tony J
Format: Article
Language:English
Subjects:
Adolescent
Analysis of Variance
Biological and medical sciences
biomarkers
Brain Mapping
Brain volumetric methods
Child
Children
chromosome 22
Chromosome deletion
Chromosomes, Human, Pair 22
Cognitive ability
DiGeorge syndrome
DiGeorge Syndrome - epidemiology
DiGeorge Syndrome - genetics
DiGeorge Syndrome - pathology
Female
Genetic disorder
Humans
Incidence
Magnetic resonance imaging
Magnetic Resonance Imaging - methods
Male
Medical sciences
Neuroimaging
Pediatric neuroimaging
Psychiatry
Psychology. Psychoanalysis. Psychiatry
Psychopathology. Psychiatry
Radiology
Septum
Septum Pellucidum - pathology
Velocardiofacial syndrome (VCFS)
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Summary:Abstract Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a result of a hemizygotic microdeletion that results in a variety of impairments in children including greater risk for psychiatric ailments in adulthood. We used high-resolution magnetic resonance imaging to accurately quantify the length and, for the first time, volume, of the cavum septum pellucidum (CSP) in children aged 7 to 14 years with 22q11.2DS and typically developing (TD) controls. Significantly greater anteroposterior length and greater CSP volumes were found in children with 22q11.2DS compared with controls. Furthermore, the largest CSP were found only in the 22q11.2DS group and with a much higher incidence than previously reported in the literature. Given the significant midline anomalies in the brains of those affected by 22q11.2DS, large CSP may be a biomarker of atypical brain development. The implication of these larger CSP for cognitive and behavioral development is a topic in need of further investigation.
ISSN:0925-4927
1872-7506
DOI:10.1016/j.pscychresns.2009.10.009