title: [Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data].
abstract: BACKGROUND
  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.
  
  
  OBJECTIVE
  To determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Cuidados Intensivos Pediátricos, Hospital Niño Jesús, Madrid, España. Electronic address: angelesgarciateresa@gmail.com.
authors.forename: María Angeles
authors.initials: MA
authors.lastname: García Teresa
authors.affiliation: Pediatría, CS Villalva Pueblo, Madrid, España.
authors.forename: Raquel
authors.initials: R
authors.lastname: Porto Abal
authors.affiliation: Neumología Pediátrica, Hospital Sant Joan de Déu, Barcelona, Barcelona, España.
authors.forename: Silvia
authors.initials: S
authors.lastname: Rodríguez Torres
authors.affiliation: Cuidados Intensivos Pediátricos, Hospital de Cruces, Bilbao, Vizcaya, España.
authors.forename: Diego
authors.initials: D
authors.lastname: García Urabayen
authors.affiliation: Hospitalización Domiciliaria Pediátrica, Hospital de la Arrixaca, Murcia, España.
authors.forename: Silvia
authors.initials: S
authors.lastname: García Martínez
authors.affiliation: Centro de Referencia Francés de Hipoventilación Central, Hospital Robert Debré, Consorcio Europeo del Síndrome de Hipoventilación Central, París, Francia.
authors.forename: Ha
authors.initials: H
authors.lastname: Trang
authors.affiliation: Instituto de Genética Médica y Molecular, IdiPAz, Hospital Universitario La Paz, CIBER de Enfermedades Raras, ISCIII, Madrid, España.
authors.forename: Angel
authors.initials: A
authors.lastname: Campos Barros
authors.affiliation: Cuidados Intensivos Pediátricos, Hospital Doce de Octubre, Madrid, España.
authors.forename: Ana
authors.initials: A
authors.lastname: Llorente de la Fuente
authors.affiliation: Cuidados Intensivos Pediátricos, Hospital Puerta del Mar, Cádiz, España.
authors.forename: Arturo
authors.initials: A
authors.lastname: Hernández González
authors.affiliation: Cuidados Intensivos Pediátricos, Hospital Gregorio Marañón, Madrid, España.
authors.forename: Amaya
authors.initials: A
authors.lastname: Bustinza Arriortua
authors.affiliation: Pediatría, Hospital Universitario Materno Infantil, Jaén, España.
authors.forename: Jesús
authors.initials: J
authors.lastname: de la Cruz Moreno
authors.affiliation: Cuidados Intensivos Pediátricos, Hospital Sant Joan de Déu, Barcelona, España.
authors.forename: Martí
authors.initials: M
authors.lastname: Pons Odena
authors.affiliation: Neonatología, Hospital Lozano Blesa, Zaragoza, España.
authors.forename: Purificación
authors.initials: P
authors.lastname: Ventura Faci
authors.affiliation: Hospitalización a Domicilio Pediátrica, Hospital General Universitario, Alicante, España.
authors.forename: Laura
authors.initials: L
authors.lastname: Rubio Ortega
authors.affiliation: Neumología Infantil, Hospital Carlos Haya, Málaga, España.
authors.forename: Estela
authors.initials: E
authors.lastname: Pérez Ruiz
authors.affiliation: Neumología Pediátrica, Hospital Materno Infantil, Las Palmas, España.
authors.forename: Antonio
authors.initials: A
authors.lastname: Aguilar Fernández
authors.affiliation: Cuidados Intensivos Pediátricos, Complejo Hospitalario de Navarra, Pamplona, Navarra, España.
authors.forename: Amaya
authors.initials: A
authors.lastname: Pérez Ocón
authors.affiliation: Neumología Pediátrica, Hospital Son Espases, Palma de Mallorca, Islas Baleares, España.
authors.forename: Borja
authors.initials: B
authors.lastname: Osona
authors.affiliation: Neumología Pediátrica, Hospital Virgen del Rocío, Sevilla, España.
authors.forename: Isabel
authors.initials: I
authors.lastname: Delgado Pecellin
authors.affiliation: Neonatología, Hospital San Pedro de Alcántara, Cáceres, España.
authors.forename: Ignacio
authors.initials: I
authors.lastname: Arroyo Carrera
authors.affiliation: Neumología, Hospital Doce de Octubre, Madrid, España.
authors.forename: Javier
authors.initials: J
authors.lastname: Sayas Catalán
authors.affiliation: Cuidados Intensivos Pediátricos, Hospital Universitario de Salamanca, Salamanca, España.
authors.forename: Elvira
authors.initials: E
authors.lastname: González Salas
authors.affiliation: Neumología Pediátrica, Hospital Miguel Servet, Zaragoza, España.
authors.forename: Carlos Martin
authors.initials: CM
authors.lastname: de Vicente
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D005060:Europe; D005260:Female; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy; D007223:Infant; D008297:Male; D012042:Registries; D020182:Sleep Apnea, Central / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy; D013030:Spain; D055815:Young Adult
keywords: Asistencia sanitaria; Congenital central hypoventilation syndrome; Enfermedad rara; Health care; PHOX2B; Rare disease; Registro; Registry; Síndrome de hipoventilación central congénita