Survival of Patients With Spinal Muscular Atrophy Type 1 WHAT’S KNOWN ON THIS SUBJECT: Survival of children with spinal muscular atrophy type 1 is determined by treatment choice: tracheostomy with mechanical ventilation, noninvasive mechanical ventilation, or a palliative approach. Few data are available on life expectancies with different approaches. WHAT THIS STUDY ADDS: The present study provides data comparing therapeutic strategies that affect life expectancy. Clinicians involved in the care of patients with spinal muscular atrophy type 1 should be aware of survival trends while awaiting more definitive therapeutic strategies. abstract BACKGROUND: Spinal muscular atrophy type 1 (SMA1) is a progres- sive 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: let- ting nature take its course (NT); tracheostomy and invasive mechan- ical 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 in- terval: 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, PhD b a Department of Emergency and Intensive Care, Città della Salute e della Scienza, Turin, Italy; b Pneumology and d Epidemiology Units, Bambino Gesù Children Hospital Research Institute, Rome, Italy; c Counselor–Sapre, Fondazione Ospedale Policlinico Maggiore Mangiagalli e Regina Elena, Milan, Italy; and e Pneumology Unit, Oirm-Sant’Anna, Turin, Italy KEY WORDS home mechanical ventilation, mechanical assisted cough, pediatric palliative care, spinal muscular atrophy type 1, long survival ABBREVIATIONS CI—confidence interval MAC—mechanically assisted coughing NIV—noninvasive bilevel ventilation NRA—noninvasive respiratory aid NT—no treatment SMA—spinal muscular atrophy SMA1—spinal muscular atrophy type 1 SpO 2 —pulse oxygen saturation TV—tracheostomy and invasive mechanical ventilation Dr Cutrera conceptualized and designed the study, critically reviewed the manuscript, and approved the final manuscript as submitted; Dr Ottonello designed the data collection instruments, carried out the initial analyses, designed the study, and drafted the initial manuscript; Drs Chiarini Testa and Bignamini coordinated and supervised data collection and reviewed and revised the manuscript; Dr Ravà carried out the initial statistical analysis; Ms Mastella coordinated and supervised data collection; Dr Veljkovic critically reviewed the manuscript and made substantial contributions to the statistical analysis; and Dr Gregoretti conceptualized and designed the study, drafted the initial manuscript, reviewed and revised the manuscript, and approved the final manuscript as submitted. www.pediatrics.org/cgi/doi/10.1542/peds.2012-2278 doi:10.1542/peds.2012-2278 Accepted for publication Jan 29, 2013 Address correspondence to Renato Cutrera, MD, PhD, Pneumology Unit, Bambino Gesù Children’ s Hospital, Piazza S Onofrio 4, 00165 Rome, Italy. E-mail: renato.cutrera@opbg.net PEDIATRICS (ISSN Numbers: Print, 0031-4005; Online, 1098-4275). Copyright © 2013 by the American Academy of Pediatrics FINANCIAL DISCLOSURE: Dr Gregoretti has received payment for development of educational presentations from Covidien, a home mechanical ventilator manufacturer; the other authors have indicated they have no financial relationships relevant to this article to disclose. FUNDING: No external funding. PEDIATRICS Volume 131, Number 5, May 2013 e1509 ARTICLE by guest on May 31, 2016 Downloaded from