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Title: Atypical neuropsychological profile in a boy with 22q11.2 Deletion Syndrome
Authors: Stiers, Peter ×
Swillen, Ann
De Smedt, Bert
Lagae, Lieven
Devriendt, Koenraad
D'Agostino, Emiliano
Sunaert, Stefan
Fryns, Jean-Pierre #
Issue Date: Feb-2005
Series Title: Child Neuropsychology vol:11 issue:1 pages:87-108
Abstract: In this article the general and specific cognitive impairments of the boy R.H. with a de novo deletion 22q11.2 are described. His full-scale IQ was 73, and he obtained only slightly better verbal than non-verbal subtest scores. Neuropsychological assessment revealed specific impairments in perceptual categorization of objects presented suboptimal, matching of unfamiliar faces, and verbal learning and memory. In contrast, he performed in accordance with his intelligence level on other visual perceptual tasks, on non-verbal learning and memory tasks, and on attention tasks. Voxel-wise statistical comparison of a high-resolution T1-weighted magnetic resonance image of R.H's brain with similar images obtained from 14 normal control children revealed as major abnormalities a reduction of the right inferior parietal and superior occipital lobe, and a bilateral reduction of deep white matter behind the inferior frontal gyrus. These cognitive impairments and MRI abnormalities are not commonly described in 22q11.2 Deletion Syndrome and may indicate a larger heterogeneity in the neurocognitive phenotype than currently evidenced. At least in this boy the microdeletion seems to have interfered with the development and functioning of particular neural subsystems, while the structure and functioning of other subsystems was left intact.
URI: 
ISSN: 0929-7049
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Parenting and Special Education
Research Group for Adapted Physical Activity and Psychomotor Rehabilitation
Brain & Metabolism Section (-)
Laboratory for Experimental Psychology
Radiology
Translational MRI (+)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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