Abstract

Backgound: Congenital Central Hypoventilation Syndrome (CCHS) results from mutation of PHOX2B gene causing alveolar hypoventilation especially during sleep. In babies with severe CCHS, tracheostomy ventilation (TrLTV) is often required, entailing high burden of care. As the patients get older, many see a reduction in daytime ventilatory support. To date, published data on transitioning TrLTV CCHS patients to non-invasive ventilation (NIV) is limited. Aim: To review the experience of decannulating and transitioning CCHS pateints from TrLTV to NIV in a large tertiary centre over a 10 year-period (May 2012- Jan 2023). Method: A retrospective review of all CCHS children transitioning from TrLTV to NIV. Results: The LTV service looks after 13 CCHS pateints on ventilation (8NIV;5TrLTV). 7 children (4 female;median age[range]7 yrs[5-8] yrs) underwent decannulation to NIV. 6 out of 7 children were successfully decannulated to NIV and all remain so since. The median length of decannulation process[range]=8.5[3-14]months. 5 patients successfully decannulated to NIV at 1st attempt. Of the 2 who failed the 1st attempt, 1 child succeeded at 2nd attempt (1 waiting for 2nd trial). In our cohort, switching from nasal to full face mask aided the success of the transition due to improved leak, less nasal congestion, comfort and overall tolerance to ventilation. Contributing factors to failure included age of child, level of understanding, anxiety and choice of mask. Conclusion: Our study shows decannulation from TrLTV to NIV is feasible and safe in CCHS children. Further research to identify barriers (practical/patient characteristics) helps to optimise the decannulation pathway.