Summary
In their recently published preprint “Brain morphometry and psychomotor development in children with PCH2A”, Pretzel et al. analyzed 78 brain MRIs from a total of 57 children with PCH2A, i.e. some patients had multiple data sets available. In addition, questionnaires on motor and cognitive development were answered by caregivers of 65 children and analyzed.
Results
At birth, the cerebellar volume of children with PCH2A is significantly smaller than that of unaffected children. In the course of the disease, cerebellar volume increases more slowly compared to the healthy control group and growth stagnates at the age of 12 months. There was no evidence of a decrease in cerebellar volume in the long term. However, a progressive microcephaly was confirmed as well as a continuous increase in the so-called Evans index. This indicates progressive (cerebral) brain atrophy (loss of volume and mass).
The questionnaires revealed pronounced impairments in physical and mental development, which is a known fact. Only a minority of the children were reported to have a decline in development.
A statistical correlation between brain measurements and cognitive or motor development could not be observed.
Conclusion
The study confirms the previous findings of limited development, but shows that development is indeed taking place and that developmental regression is rare. The study found no correlation between brain measurements and developmental progression. A progressive brain atrophy was proven.
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