Characteristics and outcomes in children with congenital central hypoventilation syndrome on long-term mechanical ventilation in the Netherlands

Conclusion: Our study results suggest that in our cohort, the genotype is not easily associated to the phenotype in CCHS. Consistent with these findings and international literature, we recommend a thorough annual evaluation for all patients with CCHS to ensure optimal management and follow-up.What is Known:• The majority of CCHS patients are dependent on ventilatory support.• Variants in the PHOX2B gene are responsible for the characteristics of CCHS.What is New:• This study provides insight into the clinical course and long-term outcomes of CCHS patients in the Netherlands.• In CCHS, the genotype is not easily associated with the phenotype, requiring a thorough life-long follow-up for all patients.
Source: European Journal of Pediatrics - Category: Pediatrics Source Type: research