title: Survival of patients with spinal muscular atrophy type 1.
abstract: BACKGROUND
  Spinal muscular atrophy type 1 (SMA1) is a progressive disease and is usually fatal in the first year of life.
  
  
  METHODS
  A retrospective chart review was performed of SMA1 patients and their outcomes according to the following choices: letting nature take its course (NT); tracheostomy and invasive mechanical ventilation (TV); continuous noninvasive respiratory muscle aid (NRA), including noninvasive ventilation; and mechanically assisted cough.
  
  
  RESULTS
  Of 194 consecutively referred patients enrolled in this study (103 males, 91 females), NT, TV, and NRA were chosen for 121 (62.3%), 42 (21.7%), and 31 (16%) patients, respectively. Survival at ages 24 and 48 months was higher in TV than NRA users: 95% (95% confidence interval: 81.8%-98.8%) and 67.7% (95% confidence interval: 46.7%-82%) at age 24 months (P < .001) and 89.43% and 45% at age 48 months in the TV and NRA groups, respectively (P < .001). The choice of TV decreased from 50% (1992-1998) to 12.7% (2005-2010) (P < .005) with a nonstatistically significant increase for NT from 50% to 65%. The choice of NRA increased from 8.1% (1999-2004) to 22.7% (2005-2010) (P < .001).
  
  
  CONCLUSIONS
  Long-term survival outcome is determined by the choice of the treatment. NRA and TV can prolong survival, with NRA showing a lower survival probability at ages 24 and 48 months.
authors.affiliation: Department of Emergency and Intensive Care, Città della Salute e della Scienza, Turin, Italy.
authors.forename: Cesare
authors.initials: C
authors.lastname: Gregoretti
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Ottonello
authors.forename: Maria Beatrice
authors.initials: MB
authors.lastname: Chiarini Testa
authors.forename: Chiara
authors.initials: C
authors.lastname: Mastella
authors.forename: Lucilla
authors.initials: L
authors.lastname: Ravà
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Bignamini
authors.forename: Aleksandar
authors.initials: A
authors.lastname: Veljkovic
authors.forename: Renato
authors.initials: R
authors.lastname: Cutrera
mesh_terms: D002423:Cause of Death; D002675:Child, Preschool; D015331:Cohort Studies; D016001:Confidence Intervals; D016208:Databases, Factual; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D053208:Kaplan-Meier Estimate; D008297:Male; D063087:Noninvasive Ventilation / Q000379:methods* / Q000401:mortality; D010102:Oxygen Inhalation Therapy / Q000379:methods / Q000401:mortality; D010166:Palliative Care / Q000379:methods*; D011379:Prognosis; D012121:Respiration, Artificial / Q000379:methods* / Q000401:mortality; D012189:Retrospective Studies; D018570:Risk Assessment; D012720:Severity of Illness Index; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis / Q000401:mortality* / Q000628:therapy*; D018709:Statistics, Nonparametric; D016019:Survival Analysis
keywords: home mechanical ventilation; long survival; mechanical assisted cough; pediatric palliative care; spinal muscular atrophy type 1