{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T02:46:07Z","timestamp":1790045167569,"version":"4.0.1"},"reference-count":29,"publisher":"American Academy of Pediatrics (AAP)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,5,1]]},"abstract":"<jats:sec>\n                  <jats:title>BACKGROUND:<\/jats:title>\n                  <jats:p>Spinal muscular atrophy type 1 (SMA1) is a progressive disease and is usually fatal in the first year of life.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>METHODS:<\/jats:title>\n                  <jats:p>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.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>RESULTS:<\/jats:title>\n                  <jats:p>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%\u201398.8%) and 67.7% (95% confidence interval: 46.7%\u201382%) at age 24 months (P &amp;lt; .001) and 89.43% and 45% at age 48 months in the TV and NRA groups, respectively (P &amp;lt; .001). The choice of TV decreased from 50% (1992\u20131998) to 12.7% (2005\u20132010) (P &amp;lt; .005) with a nonstatistically significant increase for NT from 50% to 65%. The choice of NRA increased from 8.1% (1999\u20132004) to 22.7% (2005\u20132010) (P &amp;lt; .001).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>CONCLUSIONS:<\/jats:title>\n                  <jats:p>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.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1542\/peds.2012-2278","type":"journal-article","created":{"date-parts":[[2013,4,23]],"date-time":"2013-04-23T07:30:27Z","timestamp":1366702227000},"page":"e1509-e1514","source":"Crossref","is-referenced-by-count":116,"title":["Survival of Patients With Spinal Muscular Atrophy Type 1"],"prefix":"10.1542","volume":"131","author":[{"given":"Cesare","family":"Gregoretti","sequence":"first","affiliation":[{"name":"Department of Emergency and Intensive Care, Citt\u00e0 della Salute e della Scienza, Turin, Italy;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giancarlo","family":"Ottonello","sequence":"additional","affiliation":[{"name":"Pneumology and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Beatrice","family":"Chiarini Testa","sequence":"additional","affiliation":[{"name":"Pneumology and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Mastella","sequence":"additional","affiliation":[{"name":"Counselor\u2013Sapre, Fondazione Ospedale Policlinico Maggiore Mangiagalli e Regina Elena, Milan, Italy; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucilla","family":"Rav\u00e0","sequence":"additional","affiliation":[{"name":"Epidemiology Units, Bambino Ges\u00f9 Children Hospital Research Institute, Rome, Italy;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Bignamini","sequence":"additional","affiliation":[{"name":"Pneumology Unit, Oirm-Sant\u2019Anna, Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aleksandar","family":"Veljkovic","sequence":"additional","affiliation":[{"name":"Pneumology Unit, Oirm-Sant\u2019Anna, Turin, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renato","family":"Cutrera","sequence":"additional","affiliation":[{"name":"Pneumology and"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2013,5,1]]},"reference":[{"issue":"1","key":"2021120900093433200_B1","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1586\/14737159.4.1.15","article-title":"Spinal muscular atrophy: molecular genetics and diagnostics.","volume":"4","author":"Ogino","year":"2004","journal-title":"Expert Rev Mol Diagn"},{"issue":"5","key":"2021120900093433200_B2","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1002\/ana.20473","article-title":"Natural history of denervation in SMA: relation to age, SMN2 copy number, and function.","volume":"57","author":"Swoboda","year":"2005","journal-title":"Ann Neurol"},{"key":"2021120900093433200_B3","first-page":"972","article-title":"Diseases of the motor unit","volume-title":"Child Neurology.","author":"Menkes","year":"2006","edition":"7th ed."},{"key":"2021120900093433200_B4","first-page":"796","article-title":"Spinal muscular atrophy","volume-title":"The 5-Minute Pediatric Consult.","author":"Kang","year":"2008","edition":"5th ed."},{"key":"2021120900093433200_B5","first-page":"2557","volume-title":"Disorders of Neuromuscular Transmission and of Motor Neurons. Nelson Textbook of Pediatrics.","author":"Kliegman","year":"2007","edition":"18th ed."},{"key":"2021120900093433200_B6","first-page":"2307","article-title":"Disorders of the anterior horn cell","volume-title":"Oski\u2019s Pediatrics Principles & Practice.","author":"Parke","year":"2006","edition":"4th ed."},{"key":"2021120900093433200_B7","first-page":"916","article-title":"Neuromuscular disease","volume-title":"Forfar et Arneil\u2019s Textbook of Pediatrics.","author":"Hughes","year":"2008","edition":"7th ed."},{"issue":"3","key":"2021120900093433200_B8","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1378\/chest.126.3.831","article-title":"Respiratory capacity course in patients with infantile spinal muscular atrophy.","volume":"126","author":"Ioos","year":"2004","journal-title":"Chest"},{"issue":"4","key":"2021120900093433200_B9","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1378\/chest.117.4.1100","article-title":"Spinal muscular atrophy type 1: a noninvasive respiratory management approach.","volume":"117","author":"Bach","year":"2000","journal-title":"Chest"},{"issue":"5","key":"2021120900093433200_B10","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1097\/PHM.0b013e31804b1d66","article-title":"Medical considerations of long-term survival of Werdnig-Hoffmann disease.","volume":"86","author":"Bach","year":"2007","journal-title":"Am J Phys Med Rehabil"},{"issue":"4","key":"2021120900093433200_B11","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1089\/pai.2009.0002","article-title":"Spinal muscular atrophy type 1: prolongation of survival by noninvasive respiratory aid.","volume":"22","author":"Bach","year":"2009","journal-title":"Pediatr Asthma Allergy Immunol"},{"key":"2021120900093433200_B12","article-title":"Spinal muscular atrophy type 1: avoidance of hospitalization by respiratory muscle support","author":"Ottonello","journal-title":"Am J Phys Med Rehabil"},{"issue":"5","key":"2021120900093433200_B13","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1136\/adc.2009.177832","article-title":"Outcome of goal-directed non-invasive ventilation and mechanical insufflation\/exsufflation in spinal muscular atrophy type I.","volume":"96","author":"Chatwin","year":"2011","journal-title":"Arch Dis Child"},{"key":"2021120900093433200_B14"},{"issue":"1","key":"2021120900093433200_B15","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1002\/ppul.10110","article-title":"Spinal muscular atrophy type 1: management and outcomes.","volume":"34","author":"Bach","year":"2002","journal-title":"Pediatr Pulmonol"},{"issue":"4","key":"2021120900093433200_B16","doi-asserted-by":"crossref","first-page":"1463","DOI":"10.1016\/S0012-3692(15)34513-X","article-title":"There are other ways to manage spinal muscular atrophy type 1.","volume":"127","author":"Bach","year":"2005","journal-title":"Chest"},{"issue":"5","key":"2021120900093433200_B17","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1016\/S0887-8994(97)00227-0","article-title":"Treatment of type I spinal muscular atrophy with noninvasive ventilation and gastrostomy feeding.","volume":"18","author":"Birnkrant","year":"1998","journal-title":"Pediatr Neurol"},{"key":"2021120900093433200_B18","doi-asserted-by":"crossref","first-page":"1406","DOI":"10.1378\/chest.125.4.1406","article-title":"Use of mechanical in exsufflator in pediatric patients with neuromuscular disease and impaired cough.","volume":"4","author":"Miske","year":"2004","journal-title":"Chest"},{"issue":"1","key":"2021120900093433200_B19","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1378\/chest.07-1615","article-title":"Physiologic benefits of mechanical insufflation-exsufflation in children with neuromuscular diseases.","volume":"133","author":"Fauroux","year":"2008","journal-title":"Chest"},{"issue":"6","key":"2021120900093433200_B20","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1097\/00002060-200206000-00003","article-title":"Duchenne muscular dystrophy: prolongation of life by noninvasive ventilation and mechanically assisted coughing.","volume":"81","author":"Gomez-Merino","year":"2002","journal-title":"Am J Phys Med Rehabil"},{"issue":"9","key":"2021120900093433200_B21","first-page":"892","article-title":"Invasive and non-invasive long-term mechanical ventilation in Italian children.","volume":"77","author":"Racca","year":"2011","journal-title":"Minerva Anestesiol"},{"issue":"10","key":"2021120900093433200_B22","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1136\/adc.2009.166512","article-title":"Implementation of \u201cthe consensus statement for the standard of care in spinal muscular atrophy\u201d when applied to infants with severe type 1 SMA in the UK.","volume":"95","author":"Roper","year":"2010","journal-title":"Arch Dis Child"},{"issue":"5","key":"2021120900093433200_B23","doi-asserted-by":"crossref","first-page":"e1345","DOI":"10.1542\/peds.2010-2972C","article-title":"Pediatric basic life support: 2010 American Heart Association Guidelines for Cardiopulmonary Resuscitation and Emergency Cardiovascular Care.","volume":"126","author":"Berg","year":"2010","journal-title":"Pediatrics"},{"issue":"5","key":"2021120900093433200_B24","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1097\/PHM.0b013e31804a8505","article-title":"Long-term survival in Werdnig-Hoffmann disease.","volume":"86","author":"Bach","year":"2007","journal-title":"Am J Phys Med Rehabil"},{"issue":"12","key":"2021120900093433200_B25","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1111\/j.1440-1754.2007.01197.x","article-title":"Physician attitudes towards ventilatory support for spinal muscular atrophy type 1 in Australasia.","volume":"43","author":"Geevasinga","year":"2007","journal-title":"J Paediatr Child Health"},{"key":"2021120900093433200_B26","first-page":"426","year":"2011"},{"issue":"3","key":"2021120900093433200_B27","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1097\/CND.0b013e318190310f","article-title":"Survival probabilities of patients with childhood spinal muscle atrophy.","volume":"10","author":"Mannaa","year":"2009","journal-title":"J Clin Neuromuscul Dis"},{"issue":"8","key":"2021120900093433200_B28","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1177\/0883073807305788","article-title":"Consensus statement for standard of care in spinal muscular atrophy.","volume":"22","author":"Wang","year":"2007","journal-title":"J Child Neurol"},{"issue":"6","key":"2021120900093433200_B29","doi-asserted-by":"crossref","first-page":"1300","DOI":"10.1183\/09031936.00144807","article-title":"Performance of ventilators for noninvasive positive-pressure ventilation in children.","volume":"31","author":"Fauroux","year":"2008","journal-title":"Eur Respir J"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/131\/5\/e1509\/1089861\/peds_2012-2278.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/131\/5\/e1509\/1089861\/peds_2012-2278.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,9]],"date-time":"2021-12-09T05:39:21Z","timestamp":1639028361000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/131\/5\/e1509\/31263\/Survival-of-Patients-With-Spinal-Muscular-Atrophy"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,5,1]]},"references-count":29,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2013,5,1]]},"published-print":{"date-parts":[[2013,5,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2012-2278","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,5,1]]}}}