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Cerebellar abnormalities in infants and toddlers with Williams syndrome
Wendy Jones1, John Hesselink, Eric Courchesne
1Laboratory for Cognitive Neuroscience, The Salk Institute for Biological Studies, LaJolla, CA 92037, USA. jones@crl.ucsd.edu
Insights
Early brain differences in Williams syndrome (WS) are evident. This study found enlarged cerebellums in young children with WS, suggesting early neuroanatomical changes impacting cognition.
Area of Science:
- Neuroanatomy
- Developmental Pediatrics
- Genetics
Background:
- Williams syndrome (WS) is a genetic disorder associated with cognitive and behavioral differences.
- Previous research identified neuroanatomical abnormalities, specifically an enlarged cerebellum, in adults with WS.
Purpose of the Study:
- To investigate early neuroanatomical differences in infants and young children with Williams syndrome.
- To determine if cerebellar enlargement is present in early childhood.
Main Methods:
- Clinical brain MRI scans of nine young children with WS (mean age 21 months) were analyzed.
- Scans were compared to nine age- and sex-matched typically developing controls and two children with undiagnosed developmental disorders.
- Two blinded neuroradiologists evaluated neuroanatomical features, focusing on the cerebellum.
Main Results:
- Neuroradiologists more frequently classified scans from children with WS into a separate group based on cerebellar features.
- The primary distinguishing feature noted was the large size of the cerebellum in children with WS.
- No significant differences were found when analyzing other brain regions.
Conclusions:
- Abnormal cerebellar enlargement is evident in Williams syndrome at an early age.
- These findings suggest the cerebellum may play a role in the cognitive delays observed in WS.
- Early neurodevelopmental trajectories in WS may differ from other developmental disorders like autism.
Abstract:
One commonly observed neuroanatomical abnormality in adults with Williams syndrome is an enlarged cerebellum relative to a small cerebrum. Our study is the first to examine neuroanatomy in young children with Williams syndrome. Clinical brain MRI was examined in nine young children with Williams syndrome (mean age 21 months, range 7 to 43 months) relative to nine age- and sex-matched normally developing control children (mean age 29 months, range 20 to 42 months), and two children with undiagnosed developmental disorders (6 and 41 months). Two neuroradiologists who were blinded to participant classification, hypotheses, and regions of interest for the study, sorted the brain scans into two groups on the basis of six neuroanatomical criteria. The raters placed more of the MR scans from children with Williams syndrome into a separate group when they analyzed features of the cerebellum, but not when they analyzed other brain regions. Based on their written comments, the raters focused on the large size of the cerebellum in the children with Williams syndrome. The results lead us to suggest that abnormal cerebellar enlargement is evident in those with Williams syndrome at an early age. Our results are discussed relative to the cognitive delays observed in Williams syndrome versus other disorders such as autism, leading us to suggest that the cerebellum may play a role in cognition.