Specific cerebellar reductions in children with chromosome 22q11.2 deletion syndrome
Joel P Bish1, Akshay Pendyal, Lijun Ding
1Children's Hospital of Philadelphia, USA. jbish@ursinus.edu
Insights
Children with chromosome 22q11.2 deletion syndrome show specific cerebellar volume reductions. These changes in the anterior lobule and vermal region may underlie cognitive and psychiatric issues in affected children.
Area of Science:
- Neuroscience
- Genetics
- Developmental Psychology
Background:
- Chromosome 22q11.2 deletion syndrome is associated with brain abnormalities, cognitive deficits, and psychopathology.
- Reduced cerebellar volume is a consistent finding in individuals with this syndrome.
Purpose of the Study:
- To identify specific cerebellar regions that differentiate children with chromosome 22q11.2 deletion syndrome from typically developing children.
- To investigate the relationship between cerebellar morphology and neurodevelopmental outcomes.
Main Methods:
- Volumetric analysis of the cerebellum using MRI in children with and without chromosome 22q11.2 deletion syndrome.
- Comparison of cerebellar lobule volumes between the two groups.
Main Results:
- Children with chromosome 22q11.2 deletion syndrome exhibited global cerebellar volume reductions.
- Significant volumetric reductions in the anterior lobule and vermal region of the neo-cerebellum were most effective in differentiating affected children.
Conclusions:
- Specific cerebellar morphological changes, particularly in the anterior lobule and vermal regions, are characteristic of chromosome 22q11.2 deletion syndrome.
- These localized cerebellar alterations may be critical substrates for the cognitive impairments and psychopathology observed in this population.
Abstract:
Children with chromosome 22q11.2 deletion syndrome commonly are found to have morphological brain changes, cognitive impairments, and elevated rates of psychopathology. One of the most commonly and consistently reported brain changes is reduced cerebellar volume. Here, we demonstrate that, in addition to the global cerebellum reductions previously reported, volumetric reductions of the anterior lobule and the vermal region of the neo-cerebellum in the mid-sagittal plane best differentiate children with the deletion from typically developing children. These results suggest that the morphological changes of specific portions of the cerebellum may be an important underlying substrate of cognitive impairments and increased incidence of psychopathology in this group.
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