P051 Audit into the diagnosis and management of congenital central hypoventilation syndrome in a paediatric tertiary Centre.

Abstract Background Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic condition characterised primarily by alveolar hypoventilation which is worse during sleep. Most often caused by mutations in the PHOX2B gene, disease phenotype is varied and can involve multi-system comorbidities such as Hirschsprung’s Disease and neural crest tumours. Children with CCHS often face a high burden of care related to their primary ventilatory insufficiency and comorbidities. Methods We performed a retrospective review of the medical records of all patients with CCHS under the care of our tertiary paediatric centre. Demographic information and relevant clinical data informed by the European CCHS Consortium consensus guidelines were collected. This included age and method of diagnosis, primary presenting symptoms, comorbidities at diagnosis, genotype, methods of screening for complications, incidence of comorbidities, frequency of polysomnography (PSG), ventilation modes, and multi-disciplinary team involvement. Descriptive statistics will identify key clinical characteristics in our population of children with CCHS and highlight management priorities. Data on local management practices will be compared to international standards as published in the recent European CCHS Consortium Project Guidelines. Progress to Date Medical record review has been undertaken, and all demographic and clinical data has been collected for our cohort of children with CCHS (n = 7). Statistical analysis is in progress. Intended outcome and impact This project will paint a picture of the current landscape of CCHS in our tertiary paediatric centre. It will highlight areas of need for children with this complex, chronic condition and guide improvements in the quality of care provided.