RT Journal Article
T1 Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data
A1 Teresa, Maria Angeles Garcia
A1 Abal, Raquel Porto
A1 Torres, Silvia Rodriguez
A1 Urabayen, Diego Garcia
A1 Martinez, Silvia Garcia
A1 Trang, Ha
A1 Barros, Angel Campos
A1 Grupo Espanol de Trabajo del SHCC, 
K1 Congenital central hypoventilation syndrome
K1 Registry
K1 Health care
K1 Rare disease
K1 PHOX2B
K1 Onset central hypoventilation
K1 Positive-pressure ventilation
K1 Hypothalamic dysfunction
K1 Automatic-control
K1 Ondines-curse
K1 Phox2b gene
K1 Children
K1 Mutations
K1 Phenotype
K1 Failure
AB Introduction: Congenital 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.Aim: To determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement.Materials and method: An assessment was made on the data from Spanish patients in the European Registry, updated on December 2015.Results: The 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.Conclusion: The 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. (C) 2016 Asociacion Espanola de Pediatria. Published by Elsevier Espana, S.L.U. All rights reserved.
PB Ediciones doyma s a
SN 1695-4033
YR 2017
FD 2017-05-01
LK https://hdl.handle.net/10668/24988
UL https://hdl.handle.net/10668/24988
LA es
DS RISalud
RD Apr 17, 2025