Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children.

Background: Congenital Central Hypoventilation Syndrome (CCHS) is a rare neurocristopathy characterized by severe hypoventilation and autonomic dysregulation, with typical presentation in the neonatal period, and deficient cognitive skills in school-aged patients. We hypothesized that younger (preschool) children with CCHS would also show neurocognitive delay and that CCHS-related physiologic factors would impact neurocognitive test results.

Methods: We studied developmental (Bayley) test results collected during routine clinical care in 31 children (mean age 25.