The 22q11.2 microdeletion (velocardiofacial syndrome, VCFS) results in a complex pattern of psychoeducational and neurocognitive deficits. Mean full-scale IQ scores are in the range of borderline intellectual function, but academic achievement scores are generally in the low-normal range. A dichotomy is often found between higher Verbal IQ scores and lower Performance IQ, paralleled by relative strength in Reading and Spelling, but weakness in Math. Language skills are also typically delayed and remain impaired later in life, and psychiatric disorders can be found in both children and adults with the syndrome. On-going neurocognitive research suggests that the impairment in mathematical ability may be associated with poor visual-spatial skills. This would be consistent with theoretical models that link arithmetic skills with visual attention and spatially referenced representations of magnitude. Neuroimaging investigations indicate that these skills may all depend critically on the inferior parietal lobes, and lead to our hypothesis that these may be dysfunctional in the 22q11.2 syndrome. Early reports find no association between cognitive ability in the syndrome and the presence of cardiac malformations.
- Magnetic resonance imaging (MRI)
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine