Background
Chromosome 22q11.2 deletion syndrome (22q11DS), the most common microdeletion in humans,
is associated with multiple medical features, almost universal cognitive deficits,
and a high risk of schizophrenia. The metabolic basis of the psychological/psychiatric
features is not well understood. Volumetric brain imaging studies have shown that
gray matter abnormalities in the dorsolateral prefrontal cortex (DLPFC), an area that
is believed to be integral for higher neurocognition, as well as being involved in
schizophrenia, are associated with the psychological manifestations. However, studies
have not characterized any possible metabolite alterations within the DLPFC of children
with 22q11DS and their correlations with the psychological findings.
Methods
We conducted a short echo time, single-voxel, in vivo proton spectroscopy study involving
children with 22q11DS (n = 26) and matched control subjects (n = 23).
Results
Absolute N-acetylaspartate (NAA) levels from the DLPFC were significantly elevated in children
with 22q11DS compared with control subjects and the elevations were associated with
poor global functioning and higher rates of comorbid attention-deficit/hyperactivity
disorder. Children with 22q11DS had a lack of an age-associated decrease in NAA levels,
a trend seen in the control subjects. However, the results did not remain statistically
significant after corrections for multiple comparisons were made.
Conclusions
These findings represent the first report of proton spectroscopy in children with
22q11DS. The elevated DLPFC NAA levels and the lack of decreasing trends in NAA with
age in the 22q11DS group relative to control subjects suggest an alteration in cortical
development. Also, such neuronal dysmaturation is associated with psychopathology
in children with 22q11DS.
Key Words
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Article info
Publication history
Published online: May 28, 2012
Accepted:
April 3,
2012
Received in revised form:
April 2,
2012
Received:
September 19,
2011
Identification
Copyright
© 2012 Society of Biological Psychiatry. Published by Elsevier Inc. All rights reserved.
