Imaging Genomics of Young Children with Global Developmental Delay: Preliminary DTI connectome study correlated with Allen brain atlas gene expression level

This study is to investigate if different types of genetic mutations observed in children with global developmental delay (GD) are associated with white matter dysmorphologies and neuropsychological assessments. Eight children with GD having different mutations underwent a 3T MRI including diffusion tensor imaging with topological whole brain connectome analysis. Four of eight GD-associated mutations having high gene expression level in frontal and hippocampal regions showed apparently increased connectivity strengths in frontal and hippocampal regions which were significantly correlated with three behavioral phenotypes (IQ, memory, communication) suggesting that white matter abnormalities in different regions are perhaps driven by different genetic mutations.