Survival of patients with spinal muscular atrophy type 1

Cesare Gregoretti, Giancarlo Ottonello, Maria Beatrice Chiarini Testa, Chiara Mastella, Lucilla Ravà, Elisabetta Bignamini, Aleksandar Veljkovic, Renato Cutrera

Research output: Contribution to journalArticle

43 Citations (Scopus)

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.

Original languageEnglish
JournalPediatrics
Volume131
Issue number5
DOIs
Publication statusPublished - May 2013

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Spinal Muscular Atrophies of Childhood
Respiratory Muscles
Survival
Confidence Intervals
Noninvasive Ventilation
Tracheostomy
Artificial Respiration
Cough

Keywords

  • Home mechanical ventilation
  • Long survival
  • Mechanical assisted cough
  • Pediatric palliative care
  • Spinal muscular atrophy type 1

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Arts and Humanities (miscellaneous)

Cite this

Survival of patients with spinal muscular atrophy type 1. / Gregoretti, Cesare; Ottonello, Giancarlo; Testa, Maria Beatrice Chiarini; Mastella, Chiara; Ravà, Lucilla; Bignamini, Elisabetta; Veljkovic, Aleksandar; Cutrera, Renato.

In: Pediatrics, Vol. 131, No. 5, 05.2013.

Research output: Contribution to journalArticle

Gregoretti, C, Ottonello, G, Testa, MBC, Mastella, C, Ravà, L, Bignamini, E, Veljkovic, A & Cutrera, R 2013, 'Survival of patients with spinal muscular atrophy type 1', Pediatrics, vol. 131, no. 5. https://doi.org/10.1542/peds.2012-2278
Gregoretti, Cesare ; Ottonello, Giancarlo ; Testa, Maria Beatrice Chiarini ; Mastella, Chiara ; Ravà, Lucilla ; Bignamini, Elisabetta ; Veljkovic, Aleksandar ; Cutrera, Renato. / Survival of patients with spinal muscular atrophy type 1. In: Pediatrics. 2013 ; Vol. 131, No. 5.
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AB - 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.

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