Mapping cortical thickness in children with 22q11.2 deletions

Area of Science:

• Neuroscience
• Genetics
• Developmental Biology

Background:

• 22q11.2 deletion syndrome (22q11.2DS) presents with cardiac/craniofacial anomalies, visuospatial deficits, and psychosis.
• The underlying neurobiological mechanisms and brain alterations in 22q11.2DS remain largely unknown.

Purpose of the Study:

• To investigate cortical development and identify structural brain differences in children with 22q11.2DS.
• To explore the relationship between genetic factors and observed neuroanatomical changes.

Main Methods:

• Utilized structural magnetic resonance imaging (MRI) on 21 children with 22q11.2DS and 13 controls.
• Applied advanced cortical pattern matching to measure cortical thickness at 65,536 homologous points.

Main Results:

• Identified regionally specific cortical thinning in superior parietal and right parietooccipital regions, critical for visuospatial processing.
• Observed bilateral thinning in the inferior frontal gyrus (pars orbitalis), important for language development.
• These findings suggest altered cortical development in key neurocognitive and language-related areas.

Conclusions:

• Cortical thinning in specific brain regions may underlie the visuospatial and language deficits seen in 22q11.2DS.
• Haploinsufficiency of genes within the deleted 22q11.2 segment likely impacts cortical development.
• These results offer insights into the pathophysiology of the neurobehavioral phenotype in 22q11.2DS.