Survival of Patients With Spinal Muscular Atrophy
نویسندگان
چکیده
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. Pediatrics 2013;131:e1509–e1514 AUTHORS: Cesare Gregoretti, MD,a Giancarlo Ottonello, MD,b Maria Beatrice Chiarini Testa, MD,b Chiara Mastella, RT,c Lucilla Ravà, ED,d Elisabetta Bignamini, MD,e Aleksandar Veljkovic, MD,e and Renato Cutrera, MD, PhDb aDepartment of Emergency and Intensive Care, Città della Salute e della Scienza, Turin, Italy; bPneumology and dEpidemiology Units, Bambino Gesù Children Hospital Research Institute, Rome, Italy; cCounselor–Sapre, Fondazione Ospedale Policlinico Maggiore Mangiagalli e Regina Elena, Milan, Italy; and ePneumology Unit, Oirm-Sant’Anna, Turin, Italy
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