TY - JOUR T1 - Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data JO - Anales de Pediatría (English Edition) T2 - AU - García Teresa,María Angeles AU - Porto Abal,Raquel AU - Rodríguez Torres,Silvia AU - García Urabayen,Diego AU - García Martínez,Silvia AU - Trang,Ha AU - Campos Barros,Angel SN - 23412879 M3 - 10.1016/j.anpede.2016.05.006 DO - 10.1016/j.anpede.2016.05.006 UR - https://analesdepediatria.org/en-spanish-patients-with-central-hypoventilation-articulo-S234128791730073X AB - IntroductionCongenital central hypoventilation syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care. AimTo determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement. Materials and methodAn assessment was made on the data from Spanish patients in the European Registry, updated on December 2015. ResultsThe Registry contained 38 patients, born between 1987 and 2013, in 18 hospitals. Thirteen (34.2%) were older than 18 years. Three patients had died. Genetic analysis identified PHOX2B mutations in 32 (86.5%) out of 37 patients assessed. The 20/25, 20/26 and 20/27 polyalanine repeat mutations (PARMs) represented 84.3% of all mutations. Longer PARMs had more, as well as more severe, autonomic dysfunctions. Eye diseases were present in 47%, with 16% having Hirschsprung disease, 13% with hypoglycaemia, and 5% with tumours. Thirty patients (79%) required ventilation from the neonatal period onwards, and 8 (21%) later on in life (late onset/presentation). Eight children (21%) were using mask ventilation at the first home discharge. Five of them were infants with neonatal onset, two of them, both having a severe mutation, were switched to tracheostomy after cardiorespiratory arrest at home. Approximately one-third (34.3%) of patients were de-cannulated and switched to mask ventilation at a mean age of 13.7 years. Educational reinforcement was required in 29.4% of children attending school. ConclusionThe implementation of the EuCHS Registry in Spain has identified some relevant issues for optimising healthcare, such as the importance of genetic study for diagnosis and assessment of severity, the high frequency of eye disease and educational reinforcement, as well as some limitations in ventilatory techniques. ER -