{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T05:16:43Z","timestamp":1772774203310,"version":"3.50.1"},"reference-count":33,"publisher":"FapUNIFESP (SciELO)","issue":"7","license":[{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,7,1]],"date-time":"2019-07-01T00:00:00Z","timestamp":1561939200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"abstract":"<jats:p>ABSTRACT Spinal muscular atrophy (SMA) has gained much attention in the last few years because of the approval of the first intrathecal treatment for this neurodegenerative disease. Latin America needs to develop the demographics of SMA, timely access to diagnosis, and appropriate following of the standards of care recommendations for patients. These are essential steps to guide health policies.  Methods  This was a descriptive study of a cohort of SMA patients from all over Chile. We analyzed the clinical, motor functional, and social data, as well as the care status of nutritional, respiratory and skeletal conditions. We also measured the SMN2 copy number in this population.  Results  We recruited 92 patients: 50 male; 23 SMA type-1, 36 SMA type-2 and 33 SMA type-3. The median age at genetic diagnosis was 5, 24 and 132 months. We evaluated the SMN2 copy number in 57 patients. The SMA type-1 patients were tracheostomized and fed by gastrostomy in a 69.6 % of cases, 65% of SMA type-2 patients received nocturnal noninvasive ventilation, and 37% of the whole cohort underwent scoliosis surgery.  Conclusion  Ventilatory care for SMA type-1 is still based mainly on tracheostomy. This Chilean cohort of SMA patients had timely access to genetic diagnosis, ventilatory assistance, nutritional support, and scoliosis surgery. In this series, SMA type-1 is underrepresented, probably due to restrictions in access to early diagnosis and the high and early mortality rate.<\/jats:p>","DOI":"10.1590\/0004-282x20190073","type":"journal-article","created":{"date-parts":[[2019,7,27]],"date-time":"2019-07-27T15:30:06Z","timestamp":1564241406000},"page":"470-477","source":"Crossref","is-referenced-by-count":13,"title":["Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile"],"prefix":"10.1590","volume":"77","author":[{"given":"Karin","family":"ALVAREZ","sequence":"first","affiliation":[{"name":"Cl\u00ednica Las Condes,  Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernardita","family":"SUAREZ","sequence":"additional","affiliation":[{"name":"Cl\u00ednica Las Condes,  Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Ang\u00e9lica","family":"PALOMINO","sequence":"additional","affiliation":[{"name":"Cl\u00ednica Las Condes,  Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cecilia","family":"HERVIAS","sequence":"additional","affiliation":[{"name":"Cl\u00ednica Las Condes,  Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giancarlo","family":"CALCAGNO","sequence":"additional","affiliation":[{"name":"Cl\u00ednica Las Condes,  Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maripaz","family":"MART\u00cdNEZ-JALILIE","sequence":"additional","affiliation":[{"name":"Cl\u00ednica Las Condes,  Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9s","family":"LOZANO-ARANGO","sequence":"additional","affiliation":[{"name":"Cl\u00ednica Las Condes,  Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susana","family":"LILLO","sequence":"additional","affiliation":[{"name":"Cl\u00ednica Las Condes,  Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariana","family":"HARO","sequence":"additional","affiliation":[{"name":"Cl\u00ednica Las Condes,  Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fanny","family":"CORT\u00c9S","sequence":"additional","affiliation":[{"name":"Cl\u00ednica Las Condes,  Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samuel","family":"PANTOJA","sequence":"additional","affiliation":[{"name":"Cl\u00ednica Las Condes,  Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andr\u00e9s","family":"CHAHIN","sequence":"additional","affiliation":[{"name":"Cl\u00ednica Las Condes,  Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulina","family":"ORELLANA","sequence":"additional","affiliation":[{"name":"Cl\u00ednica Las Condes,  Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge A","family":"BEVILACQUA","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrico","family":"BERTINI","sequence":"additional","affiliation":[{"name":"Bambino Ges\u00f9 Children Hospital,  Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1981-7550","authenticated-orcid":false,"given":"Claudia","family":"CASTIGLIONI","sequence":"additional","affiliation":[{"name":"Cl\u00ednica Las Condes,  Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","published-online":{"date-parts":[[2019,7]]},"reference":[{"issue":"1","key":"ref1","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1186\/1750-1172-6-71","article-title":"Spinal muscular atrophy","volume":"6","author":"D\u2019Amico A","year":"2011","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"ref2","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - a literature review","volume":"12","author":"Verhaart IE","year":"2017","journal-title":"Orphanet J Rare Dis"},{"issue":"5","key":"ref3","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/S1474-4422(12)70061-3","article-title":"Childhood spinal muscular atrophy: controversies and challenges","volume":"11","author":"Mercuri E","year":"2012","journal-title":"Lancet Neurol"},{"issue":"5","key":"ref4","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1001\/archneur.1995.00540290108025","article-title":"Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications","volume":"52","author":"Zerres K","year":"1995","journal-title":"Arch Neurol"},{"issue":"9","key":"ref5","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1212\/WNL.0000000000000741","article-title":"Observational study of spinal muscular atrophy type I and implications for clinical trials","volume":"83","author":"Finkel RS","year":"2014","journal-title":"Neurology"},{"issue":"6","key":"ref6","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1016\/j.ejpn.2016.07.017","article-title":"Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina","volume":"20","author":"Medrano S","year":"2016","journal-title":"Eur J Paediatr Neurol"},{"issue":"4 suppl 1","key":"ref7","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1590\/S1415-47572012000600010","article-title":"Molecular analysis of spinal muscular atrophy: A genotyping protocol based on TaqMan(\u00ae) real-time PCR","volume":"35","author":"Godinho FMS","year":"2012","journal-title":"Genet Mol Biol"},{"issue":"9","key":"ref8","doi-asserted-by":"crossref","first-page":"578","DOI":"10.1038\/gt.2017.68","article-title":"Management of neuromuscular diseases and spinal muscular atrophy in Latin America","volume":"24","author":"Monges S","year":"2017","journal-title":"Gene Ther"},{"key":"ref9","series-title":"Instituto Nacional de Estad\u00edsticas","year":"2016"},{"issue":"1","key":"ref10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1056\/NEJMp1514202","article-title":"Innovation and change in the Chilean health system","volume":"374","author":"Bossert TJ","year":"2016","journal-title":"N Engl J Med"},{"key":"ref11","series-title":"Rev Med Chil","first-page":"197","volume-title":"Clinical, electrophysiological and molecular study of 26 chilean patients with spinal muscular atrophy","volume":"139","author":"Castiglioni C","year":"2011"},{"issue":"4","key":"ref12","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1002\/mgg3.166","article-title":"Medical genetics and genomic medicine in Chile: opportunities for improvement","volume":"3","author":"Castillo Taucher S","year":"2015","journal-title":"Mol Genet Genomic Med"},{"issue":"4","key":"ref13","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1002\/mgg3.288","article-title":"Commentary to medical genetics and genomic medicine in Chile: chilean experience on molecular diagnosis for neurodegenerative disorders","volume":"5","author":"Miranda M","year":"2017","journal-title":"Mol Genet Genomic Med"},{"issue":"18","key":"ref14","doi-asserted-by":"crossref","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy","volume":"377","author":"Finkel RS","year":"2017","journal-title":"N Engl J Med"},{"issue":"7","key":"ref15","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1056\/NEJMoa1710504","article-title":"Nusinersen versus sham control in later-onset spinal muscular atrophy","volume":"378","author":"Mercuri E","year":"2018","journal-title":"N Engl J Med"},{"issue":"18","key":"ref16","doi-asserted-by":"crossref","first-page":"1713","DOI":"10.1056\/NEJMoa1706198","article-title":"Single-dose gene-replacement therapy for spinal muscular atrophy","volume":"377","author":"Mendell JR","year":"2017","journal-title":"N Engl J Med"},{"key":"ref17","series-title":"Income inequality and poverty. In It Together. Why less inequality benefits all in Chile 2015"},{"issue":"11","key":"ref18","first-page":"657","article-title":"Hammersmith functional rating scale for children with spinal muscular atrophy. Validation of the Spanish version","volume":"53","author":"Febrer A","year":"2011","journal-title":"Rev Neurol"},{"issue":"8","key":"ref19","doi-asserted-by":"crossref","first-page":"1555","DOI":"10.1016\/j.apmr.2013.01.014","article-title":"Responsiveness of the motor function measure in patients with spinal muscular atrophy","volume":"94","author":"Vuillerot C","year":"2013","journal-title":"Arch Phys Med Rehabil"},{"issue":"7","key":"ref20","doi-asserted-by":"crossref","first-page":"593","DOI":"10.1016\/j.nmd.2015.04.009","article-title":"209th ENMC International Workshop: Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy 7-9 November 2014, Heemskerk, The Netherlands","volume":"25","author":"Finkel R","year":"2015","journal-title":"Neuromuscul Disord"},{"key":"ref21","series-title":"Poblaci\u00f3n"},{"issue":"2","key":"ref22","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1016\/j.nmd.2017.11.005","article-title":"Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care","volume":"28","author":"Mercuri E","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"ref23","series-title":"Estad\u00edsticas vitales cifras provisionales 2017"},{"key":"ref24","series-title":"Transformaciones en las estructuras familiars en Chile","author":"Calvo A","year":"2011"},{"issue":"4","key":"ref25","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.pediatrneurol.2015.06.002","article-title":"Delay in Diagnosis of spinal muscular atrophy: a systematic literature review","volume":"53","author":"Lin CW","year":"2015","journal-title":"Pediatr Neurol"},{"issue":"8","key":"ref26","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 CH","year":"2007","journal-title":"J Child Neurol"},{"issue":"4","key":"ref27","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.nmd.2014.01.003","article-title":"Hammersmith functional motor scale and motor function measure-20 in non ambulant SMA patients","volume":"24","author":"Mazzone E","year":"2014","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"ref28","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1007\/s00415-013-7154-1","article-title":"Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe","volume":"261","author":"Bladen CL","year":"2014","journal-title":"J Neurol"},{"issue":"4","key":"ref29","doi-asserted-by":"crossref","first-page":"453","DOI":"10.3233\/JND-150084","article-title":"Orthopedic management of scoliosis by garches brace and spinal fusion in SMA Type 2 Children","volume":"2","author":"Catteruccia M","year":"2015","journal-title":"J Neuromuscul Dis"},{"issue":"3","key":"ref30","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1002\/ana.24864","article-title":"Emerging therapies and challenges in spinal muscular atrophy","volume":"81","author":"Farrar MA","year":"2017","journal-title":"Ann Neurol"},{"issue":"3","key":"ref31","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.nmd.2017.11.004","article-title":"Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics","volume":"28","author":"Finkel RS","year":"2018","journal-title":"Neuromuscul Disord"},{"issue":"10063","key":"ref32","doi-asserted-by":"crossref","first-page":"3017","DOI":"10.1016\/S0140-6736(16)31408-8","article-title":"Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study","volume":"388","author":"Finkel RS","year":"2016","journal-title":"Lancet"},{"issue":"4","key":"ref33","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1038\/nrneurol.2018.4","article-title":"Advances in therapy for spinal muscular atrophy: promises and challenges","volume":"14","author":"Groen EJ","year":"2018","journal-title":"Nat Rev Neurol"}],"container-title":["Arquivos de Neuro-Psiquiatria"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/anp\/v77n7\/0004-282X-anp-77-7-0470.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,2,11]],"date-time":"2020-02-11T18:14:26Z","timestamp":1581444866000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0004-282X2019000700470&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,7]]},"references-count":33,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2019,7]]}},"alternative-id":["S0004-282X2019000700470"],"URL":"https:\/\/doi.org\/10.1590\/0004-282x20190073","relation":{},"ISSN":["1678-4227","0004-282X"],"issn-type":[{"value":"1678-4227","type":"electronic"},{"value":"0004-282X","type":"print"}],"subject":[],"published":{"date-parts":[[2019,7]]}}}