{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T08:31:20Z","timestamp":1780734680279,"version":"3.54.1"},"reference-count":25,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,9,21]],"date-time":"2021-09-21T00:00:00Z","timestamp":1632182400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p>Nusinersen is the first oligonucleotide-based drug that is approved for the treatment of spinal muscular atrophy. In January 2020, the WHO declared COVID-19 a pandemic and nusinersen-provider centers had to postpone planned infusions for some children along with other related interventions. Considering the important contribution that the intrathecal infusions and other support activities could have on the quality of life of spinal muscular atrophy patients and their families, this emergency could have a relevant impact on the course of the pathology. The present work aims to assess the clinical and social issues that arise for spinal muscular atrophy children in care at the referral pediatric palliative care Centre of Padua (Veneto) from a delay in nusinersen infusions, resulting from the contingent COVID-19 restrictions. This evaluation has been carried out in both the short and long term after the first lockdown period and can be considered as a \u201cproxy\u201d of a situation of a possible delay in administration or management of infusions, due to other different causes.<\/jats:p>","DOI":"10.3389\/fneur.2021.704928","type":"journal-article","created":{"date-parts":[[2021,9,21]],"date-time":"2021-09-21T14:45:22Z","timestamp":1632235522000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":6,"title":["Effect of the COVID-19 Pandemic on Children With SMA Receiving Nusinersen: What Is Missed and What Is Gained?"],"prefix":"10.3389","volume":"12","author":[{"given":"Caterina","family":"Agosto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eleonora","family":"Salamon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Giacomelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simonetta","family":"Papa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Benedetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franca","family":"Benini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,9,21]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"124","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","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"B2","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1038\/s41582-020-00413-4","article-title":"Spinal muscular atrophy - insights and challenges in the treatment era","volume":"16","author":"Mercuri","year":"2020","journal-title":"Nat Rev Neurol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"831","DOI":"10.1016\/j.ncl.2015.07.004","article-title":"Spinal muscular atrophy","volume":"33","author":"Kolb","year":"2015","journal-title":"Neurol Clin"},{"key":"B4","doi-asserted-by":"publisher","first-page":"273","DOI":"10.3349\/ymj.2020.61.4.273","article-title":"Nusinersen as a therapeutic agent for spinal muscular atrophy","volume":"61","author":"Li","year":"2020","journal-title":"Yonsei Med J"},{"key":"B5","doi-asserted-by":"publisher","first-page":"1084","DOI":"10.1016\/j.nmd.2017.09.006","article-title":"Expanded access program with Nusinersen in SMA type I in Italy: strengths and pitfalls of a successful experience","volume":"27","author":"Messina","year":"2017","journal-title":"Neuromuscul Disord"},{"key":"B6","doi-asserted-by":"publisher","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"},{"key":"B7","doi-asserted-by":"publisher","first-page":"1723","DOI":"10.1056\/NEJMoa1702752","article-title":"Nusinersen versus sham control in infantile-onset spinal muscular atrophy","volume":"377","author":"Finkel","year":"2017","journal-title":"N Engl J Med"},{"key":"B8","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1056\/NEJMoa1710504","article-title":"Nusinersen versus sham control in later-onset spinal muscular atrophy","volume":"378","author":"Mercuri","year":"2018","journal-title":"N Engl J Med"},{"key":"B9","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1016\/j.ejpn.2017.11.001","article-title":"Single-center experience with intrathecal administration of Nusinersen in children with spinal muscular atrophy type 1","volume":"22","author":"Pechmann","year":"2018","journal-title":"Eur J Paediatr Neurol"},{"key":"B10","doi-asserted-by":"publisher","first-page":"e1312","DOI":"10.1212\/WNL.0000000000006281","article-title":"Nusinersen in patients older than 7 months with spinal muscular atrophy type 1: a cohort study","volume":"91","author":"Aragon-Gawinska","year":"2018","journal-title":"Neurology"},{"key":"B11","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1186\/s13023-020-01414-8","article-title":"Effects ofnusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study","volume":"15","author":"Audic","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"B12","doi-asserted-by":"publisher","first-page":"78","DOI":"10.1186\/s13023-020-01593-4","article-title":"Do we always need to treat patients with spinal muscular atrophy? A personal view and experience","volume":"16","author":"Agosto","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"B13","doi-asserted-by":"publisher","first-page":"1335","DOI":"10.1001\/jama.2020.4344","article-title":"Coronavirus disease 2019 (COVID-19) in Italy","volume":"323","author":"Livingston","year":"2020","journal-title":"JAMA"},{"key":"B14","doi-asserted-by":"publisher","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","year":"2018","journal-title":"Neuromuscul Disord"},{"key":"B15","doi-asserted-by":"publisher","first-page":"505","DOI":"10.23736\/S1973-9087.18.05046-3","article-title":"Spinal bracing and lung function in type-2 spinal muscular atrophy","volume":"55","author":"Di","year":"2019","journal-title":"Eur J Phys Rehabil Med"},{"key":"B16","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1002\/mus.26903","article-title":"Spinal muscular atrophy care in the COVID-19 pandemic era","volume":"62","author":"Veerapandiyan","year":"2020","journal-title":"Muscle Nerve"},{"key":"B17","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1016\/j.nmd.2019.03.003","article-title":"Thoracic circumference: a new outcome measure in spinal muscular atrophy type 1?","volume":"29","author":"Ropars","year":"2019","journal-title":"Neuromuscul Disord"},{"key":"B18","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/j.nmd.2009.11.014","article-title":"The children's hospital of philadelphia infant test of neuromuscular disorders (CHOP INTEND): test development and reliability","volume":"20","author":"Glanzman","year":"2010","journal-title":"Neuromuscul Disord"},{"key":"B19","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1111\/dmcn.12876","article-title":"Use of the hammersmith infant neurological examination in infants with cerebral palsy: a critical review of the literature","volume":"58","author":"Romeo","year":"2016","journal-title":"Dev Med Child Neurol"},{"key":"B20","unstructured":"Expanded Hammersmith Functional Motor Scale for SMA (HFMSE)"},{"key":"B21","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1186\/s12883-017-0853-y","article-title":"A qualitative study of perceptions of meaningful change in spinal muscular atrophy","volume":"17","author":"McGraw","year":"2017","journal-title":"BMC Neurol"},{"key":"B22","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1002\/ana.25533","article-title":"Nusinersen in type 1 spinal muscular atrophy: twelve-month real-world data","volume":"86","author":"Pane","year":"2019","journal-title":"Ann Neurol"},{"key":"B23","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1016\/j.nmd.2015.10.006","article-title":"Patterns of disease progression in type 2 and 3 SMA: implications for clinical trials","volume":"26","author":"Mercuri","year":"2016","journal-title":"Neuromuscul Disord"},{"key":"B24","doi-asserted-by":"publisher","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\u20139 November 2014, Heemskerk, The Netherlands","volume":"25","author":"Finkel","year":"2015","journal-title":"Neuromuscul Disord"},{"key":"B25","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1177\/0883073816671236","article-title":"Spinal muscular atrophy type i: is it ethical to standardize supportive care intervention in clinical trials?","volume":"32","author":"Finkel","year":"2017","journal-title":"J Child Neurol"}],"container-title":["Frontiers in Neurology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2021.704928\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,21]],"date-time":"2021-09-21T14:45:23Z","timestamp":1632235523000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fneur.2021.704928\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,9,21]]},"references-count":25,"alternative-id":["10.3389\/fneur.2021.704928"],"URL":"https:\/\/doi.org\/10.3389\/fneur.2021.704928","relation":{},"ISSN":["1664-2295"],"issn-type":[{"value":"1664-2295","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,9,21]]},"article-number":"704928"}}