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. Copyright © 2013 by the American Academy of Pediatrics.
|Numero di pagine||6|
|Stato di pubblicazione||Published - 2013|
All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health
Gregoretti, C., Bignamini, E., Gregoretti, C., Veljkovic, A., Mastella, C., Ravà, L., Cutrera, R., Ottonello, G., & Testa, M. B. C. (2013). Survival of patients with spinal muscular atrophy type 1. Pediatrics, 131, e1509-e1514.