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. 2007 Aug;17(8):1889-98.
doi: 10.1093/cercor/bhl097. Epub 2006 Oct 20.

Mapping cortical thickness in children with 22q11.2 deletions

Carrie E Bearden  1 , Theo G M van Erp, Rebecca A Dutton, Helen Tran, Lara Zimmermann, Daqiang Sun, Jennifer A Geaga, Tony J Simon, David C Glahn, Tyrone D Cannon, Beverly S Emanuel, Arthur W Toga, Paul M Thompson
Affiliations

Mapping cortical thickness in children with 22q11.2 deletions

Carrie E Bearden et al. Cereb Cortex. 2007 Aug.

Abstract

The 22q11.2 deletion syndrome (velocardiofacial/DiGeorge syndrome, 22q11.2DS) involves cardiac and craniofacial anomalies, marked deficits in visuospatial cognition, and elevated rates of psychosis. Although the mechanism is unknown, characteristic brain alterations may predispose to development of psychosis and cognitive deficits in 22q11DS. We applied cortical pattern matching and new methods for measuring cortical thickness in millimeters to structural magnetic resonance images of 21 children with confirmed 22q11.2 deletions and 13 demographically matched healthy comparison subjects. Thickness was mapped at 65 536 homologous points, based on 3-dimensional distance from the cortical gray-white matter interface to the external gray-cerebrospinal fluid boundary. A pattern of regionally specific cortical thinning was observed in superior parietal cortices and right parietooccipital cortex, regions critical for visuospatial processing, and bilaterally in the most inferior portion of the inferior frontal gyrus (pars orbitalis), a key area for language development. Several of the 30 genes encoded in the deleted segment are highly expressed in the developing brain and known to affect early neuronal migration. These brain maps reveal how haploinsufficiency for such genes can affect cortical development and suggest a possible underlying pathophysiology of the neurobehavioral phenotype.

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Figures

Figure 1
Figure 1
Comparison of brain volumes in children with 22q11DS and healthy controls. Means and standard error measures (error bars) are shown for (a) overall cerebral GM and WM, (b) lobar WM, and (c) lobar GM. Children with 22q11DS show significant GM decreases in all lobes but only a trend toward WM volume reduction in occipital cortex.
Figure 2
Figure 2
Cortical thickness maps: regional decreases in 22q11DS. The mean thickness maps for 22q11DS subjects (a, N = 21) and controls (b, N = 13) are shown, on a color-coded scale where blue colors denote thicker cortex, red colors thinner cortex. Thickness is in millimeters, according to the color bar (values are not scaled and represent estimates of the true thickness in each subject). As evident in (a) and (b), there is remarkable similarity between the regional thickness patterns in the 2 groups. The mean decrease in cortical thickness in 22q11DS is shown as a percentage of the control average in (c). Red colors, in parietooccipital cortex and the inferior-most portion of the IFG (pars orbitalis) and lateral orbital gyrus, denote regions that are up to 14% thinner, on average, than corresponding areas in controls. In the RH, greater than 14% reduction in cortical thickness was observed in an area encompassing the lateral occipital gyrus (shown in white). Blue colors denote regions where the thickness was the same or higher in 22q11DS. A previous finding by Eliez et al. (2000) indicating reduced parietal lobule volume in 22q11DS, even after adjusting for differences in brain volume, is consistent with the thinning of parietal cortex seen here. The significance of these reductions is plotted in (d) as a map of P values.
Figure 3
Figure 3
Cortical asymmetry maps. (a) Maps of cortical thickness asymmetry expressed as a percentage, for control subjects (top left panel) and 22q11DS (top right panel). Negative values on the color bar (purple and magenta) encode a greater thickness in the LH (i.e., leftward asymmetry), whereas positive values (orange and red) represent greater thickness in the RH (i.e., rightward asymmetry). (b) Depicts uncorrected maps of significant cortical thickness asymmetry, in controls (bottom left panel) and 22q11DS (bottom right panel). The color bar encodes the P value associated with the t-tests of cortical thickness performed at each cortical surface point. All blue-shaded regions are not significantly different between LH and RH. Measures of asymmetry are shown on one hemisphere only as they are, by definition, the same for both hemispheres. Rightward (R > L) asymmetries of cortical thickness were of greatest magnitude in the IFG in both 22q11DS and control children but were more extensive in the brains of 22q11DS participants (a and b, right panel).
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References

    1. Ballmaier M, Kumar A, Thompson P, Narr K, Lavretsky H, Estanol L, Deluca H, Toga AW. Localizing gray matter deficits in late-onset depression using computational cortical pattern matching methods. Am J Psychiatry. 2004;161(11):2091–2099. - PubMed
    1. Bearden CE, van Erp TG, Monterosso JR, Simon TJ, Glahn DC, Saleh PA, Hill NM, McDonald-McGinn DM, Zackai E, Emanuel BS, et al. Regional brain abnormalities in 22q11.2 deletion syndrome: association with cognitive abilities and behavioral symptoms. Neurocase. 2004;10(3):198–206. - PubMed
    1. Bearden CE, Wang PP, Simon TJ. Williams syndrome cognitive profile also characterizes velocardiofacial/DiGeorge syndrome. Am J Med Genet. 2002;114(6):689–692. - PubMed
    1. Bearden CE, Woodin MF, Wang PP, Moss E, McDonald-McGinn D, Zackai E, Emanuel B, Cannon TD. The neurocognitive phenotype of the 22q11.2 deletion syndrome: selective deficit in visual-spatial memory. J Clin Exp Neuropsychol. 2001;23(4):447–464. - PubMed
    1. Berrettini WH. Genetic bases for endophenotypes in psychiatric disorders. Dialogues Clin Neurosci. 2005;7(2):95–101. - PMC - PubMed

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