{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T02:31:21Z","timestamp":1790217081533,"version":"4.1.0"},"reference-count":51,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2023,5,16]],"date-time":"2023-05-16T00:00:00Z","timestamp":1684195200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Spinal Muscular Atrophy (SMA) type I has classically presented extremely severe clinical features. New pharmacological treatments have led to a new phenotype of SMA. The aim of this study was to describe the current health and functional status of children with SMA. A cross-sectional study was conducted based on the STROBE guidelines. Patient questionnaires and standardized tools were used. A descriptive analysis was conducted establishing the proportions of subjects for each of the characteristics of interest. In total, 51 genetically confirmed SMA type I subjects were included. Fifty-seven percent received oral feeding, 33% received tube feeding and 10% combined both. Moreover, 21.6% had tracheostomies, and 9.8% needed more than 16 h\/d ventilatory support. Regarding orthopedic status, 66.7% had scoliosis, and 68.6% had hip subluxation or dislocation. Up to 67% were able to sit independently, 23.5% walked with support and one child walked independently. Current SMA type I is a different entity from the classic phenotype but also from types II and III. In addition, no differences were found between SMA type I subgroups. These findings may enable the professionals involved in the care of these patients to improve their interventions in terms of prevention and rehabilitation measures for these children.<\/jats:p>","DOI":"10.3390\/children10050892","type":"journal-article","created":{"date-parts":[[2023,5,16]],"date-time":"2023-05-16T02:45:47Z","timestamp":1684205147000},"page":"892","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Clinical and Functional Characteristics of a New Phenotype of SMA Type I among a National Sample of Spanish Children: A Cross-Sectional Study"],"prefix":"10.3390","volume":"10","author":[{"given":"Beatriz","family":"de-Andr\u00e9s-Beltr\u00e1n","sequence":"first","affiliation":[{"name":"Department of Physical Therapy, Centro RIE (Rehabilitaci\u00f3n Infantil Especializada), 28050 Madrid, Spain"},{"name":"International Doctorate School, Rey Juan Carlos University, 28008 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4824-5915","authenticated-orcid":false,"given":"Javier","family":"G\u00fceita-Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Research Group of Humanities and Qualitative Research in Health Science, Rey Juan Carlos University, 28922 Alcorc\u00f3n, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0669-6339","authenticated-orcid":false,"given":"Domingo","family":"Palacios-Ce\u00f1a","sequence":"additional","affiliation":[{"name":"Department of Physical Therapy, Occupational Therapy, Physical Medicine and Rehabilitation, Research Group of Humanities and Qualitative Research in Health Science, Rey Juan Carlos University, 28922 Alcorc\u00f3n, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7575-9885","authenticated-orcid":false,"given":"\u00c1ngel Luis","family":"Rodr\u00edguez-Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Department of Physical Therapy, Universidad San Pablo-CEU, CEU-Universities, 28925 Alcorc\u00f3n, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,5,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","article-title":"Identification and Characterization of a Spinal Muscular Atrophy-Determining Gene","volume":"80","author":"Lefebvre","year":"1995","journal-title":"Cell"},{"key":"ref_2","doi-asserted-by":"crossref","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. 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