Neurodevelopmental Outcome and Respiratory Management of Congenital Central Hypoventilation Syndrome: A case control study

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Background: Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by sleep apnea. Anoxia often occurs soon after birth, and it is important to prevent anoxia-mediated central nervous system complications; however, data on the relationship between respiratory management and the prognosis for intellectual development of patients with CCHS is scarce. Methods: We performed a retrospective chart review cohort study of patients with CCHS in Japan. We investigated the risk and prognostic factors for developmental outcomes and examined the disease in terms of its symptoms, diagnosis, complications, and treatment. Results: Of the 123 patients with CCHS included in the survey, 88 patients were 6 years old and older. They were divided into two group based on their IQ. Those treated using positive-pressure ventilation via tracheostomy in the first three months of life had a better developmental prognosis than those managed via tracheostomy after three months of age and those treated by ventilation using mask (OR = 3.80; 95% CI: 1.00–14.37, OR = 4.65; 95% CI: 1.11–19.37). There was no significant difference in physical development (P = 0.64). Conclusions: The best respiratory treatment for patients with CCHS is ventilation via tracheostomy, initiated ideally before the age of three months.