The brain anatomy of 39 children and adolescents with 22qDS (mean age 11 years; IQ 67) and 26 sibling controls (mean age 11 years; IQ 102) was compared using MRI and automated voxel-based morphometry, and behavioral differences were correlated with affected brain regions in a study at King’s College, Institute of Psychiatry, London, UK; Royal College of Surgeons, Dublin, Ireland; and Academic Medical Center, Amsterdam, Holland. Individuals with 22qDS had a significant reduction in cerebellar grey matter, and white matter reductions in the frontal lobe, cerebellum and internal capsule; the volume of the occipital-parietal lobes was significantly reduced bilaterally; the right caudate nucleus and lateral ventricles were enlarged; and the prevalence of midline brain anomalies, such as cavum septum pellucidum, was increased. Significant positive correlations were found in 22qDS subjects between severity of (1) schizotypy symptoms and grey matter volume of temporo-occipital regions and the corpus striatum; and (2) emotional and (3) social behavioral problems and grey matter volume of frontostriatal regions. [1]

COMMENT. Subjects with 22q deletion syndrome have changes in brain anatomy, especially white matter, basal ganglia and cerebellum, that correlate with behavioral disorders. Children with 22qDS have a higher prevalence of schizotypal traits, emotional symptoms, ADHD and social behavioral disorders. Frontostriatal regions found abnormal in 22qDS are implicated in attention and executive functions.