Is long-term outcome after severe brain injury in preschoolers worse than expected?
The final evaluation of severe brain injury at preschool age should be performed in adulthood. Normal school performance or normal intelligence functioning is not a guarantee for good long-term prognosis. To let the child develop a firm identity is essential for good outcome.
In view of the high frequency of R117H-7T identified by cystic fibrosis newborn screening, the uncertain outcome of the asymptomatic children, and physicians' difficulty in managing these situations, we propose the withdrawal of the R117H variant from the panels of CFTR mutations used in cystic fibrosis newborn screening, given the expanding implementation of cystic fibrosis newborn screening.