Abstract
Congenital Central Hypoventilation Syndrome (CCHS) is a rare disorder of severe central autonomic respiratory control and global dysfunction of autonomous system. Patients present with severe apnoeas and alveolar hypoventilation at birth, requiring ventilatory support for lifetime. PHOX-2B gene mutation is found in most patients. The present study examines the neuropsychological profile of children with PHOX-2B mutation confirmed neonatal onset CCHS.
Methods: During their follow-up in the French Center of Reference of CCHS in Paris, France, 16 children (mean age 8.9 yrs ± 8.1) underwent neurocognitive assessment. Verbal functions, visuoperceptive reasoning, memory and visuographic speed were evaluated. Furthermore, visuospatial treatment and attention and executive functions were tested for 9 children.
Results: For the whole group, mean general intelligence index (75,9) was lower than that of the general population. However, a large variance was observed (SD 20,6) as well as a broad range of intellectual abilities. Memory difficulties were observed among 38% of the children and a slower cognitive treatment in 33%. In addition, attention deficits and visuospatial disorders were present in 67% and 66% of them respectively.
Conclusions: Children with CCHS are at risk to develop neurocognitive deficits, especially in memory, attention and visuospatial treatment. Factors underlying these abnormalities are to be determined. Neurocognitive monitoring should be included in long-term follow-up of CCHS.
- © 2011 ERS