TY - JOUR
T1 - Survival of patients with spinal muscular atrophy type 1
AU - Gregoretti, Cesare
AU - Bignamini, Elisabetta
AU - Gregoretti, Cesare
AU - Veljkovic, Aleksandar
AU - Cutrera, Renato
AU - Mastella, Chiara
AU - Ravà, Lucilla
AU - Cutrera, Renato
AU - Ottonello, Giancarlo
AU - Testa, Maria Beatrice Chiarini
PY - 2013
Y1 - 2013
N2 - 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.
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. Copyright © 2013 by the American Academy of Pediatrics.
KW - Artificial; Retrospective Studies; Risk Assessment; Severity of Illness Index; Spinal Muscular Atrophies of Childhood; Statistics
KW - Factual; Female; Humans; Infant; Infant
KW - Home mechanical ventilation; Long survival; Mechanical assisted cough; Pediatric palliative care; Spinal muscular atrophy type 1; Child
KW - Newborn; Kaplan-Meier Estimate; Male; Noninvasive Ventilation; Oxygen Inhalation Therapy; Palliative Care; Prognosis; Respiration
KW - Nonparametric; Survival Analysis; Cause of Death; Pediatrics
KW - Perinatology and Child Health; Arts and Humanities (miscellaneous)
KW - Preschool; Cohort Studies; Confidence Intervals; Databases
KW - Artificial; Retrospective Studies; Risk Assessment; Severity of Illness Index; Spinal Muscular Atrophies of Childhood; Statistics
KW - Factual; Female; Humans; Infant; Infant
KW - Home mechanical ventilation; Long survival; Mechanical assisted cough; Pediatric palliative care; Spinal muscular atrophy type 1; Child
KW - Newborn; Kaplan-Meier Estimate; Male; Noninvasive Ventilation; Oxygen Inhalation Therapy; Palliative Care; Prognosis; Respiration
KW - Nonparametric; Survival Analysis; Cause of Death; Pediatrics
KW - Perinatology and Child Health; Arts and Humanities (miscellaneous)
KW - Preschool; Cohort Studies; Confidence Intervals; Databases
UR - http://hdl.handle.net/10447/157076
UR - http://pediatrics.aappublications.org/content/131/5/e1509.full.pdf+html
M3 - Article
VL - 131
SP - e1509-e1514
JO - Pediatrics
JF - Pediatrics
SN - 0031-4005
ER -