{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:44:02Z","timestamp":1760150642032,"version":"build-2065373602"},"reference-count":42,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2023,11,30]],"date-time":"2023-11-30T00:00:00Z","timestamp":1701302400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"FundAME (Fundaci\u00f3n Espa\u00f1ola de Atrofia Muscular Espinal)"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Spinal muscular atrophy (SMA) is a devastating genetic neurodegenerative disease caused by the insufficient production of Survival Motor Neuron (SMN) protein. It presents different phenotypes with frequent contractures and dislocations, scoliosis, and pain. This study aims to report the prevalence and description of pain and how it affects daily life by analyzing a new ad hoc questionnaire. An observational study of patients under 18 years of age with SMA was conducted at two referral centers in Spain. Data were analyzed using a descriptive analysis and a Bayesian ordinal regression model to assess the association with clinical and demographic variables. Fifty-one individuals were included in this study, 43% of whom reported pain with a median duration of 5.2 years and a mean Visual Analogic Scale (VAS) score of 5. Notably, 77% were receiving disease-modifying treatment, with more than 50% receiving analgesic treatment. The Bayesian model showed that functional status, lower limb contractures, and number of visits have a high probability (&gt;90%) of influencing pain. Thus, the prevalence of pain in the SMA population under 18 years is substantial, and its presence could be associated with lower limb contractures, better functional status, and higher RULM (Revised Upper Limb Module) scores.<\/jats:p>","DOI":"10.3390\/children10121880","type":"journal-article","created":{"date-parts":[[2023,11,30]],"date-time":"2023-11-30T09:37:54Z","timestamp":1701337074000},"page":"1880","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Pain in Children and Adolescents with Spinal Muscular Atrophy: A Longitudinal Study from a Patient Registry"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3864-7374","authenticated-orcid":false,"given":"Inmaculada","family":"Pitarch-Castellano","sequence":"first","affiliation":[{"name":"Neuropediatric Department, Hospital Universitario y Polit\u00e9cnico la Fe, 46026 Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0635-4961","authenticated-orcid":false,"given":"David","family":"Herv\u00e1s","sequence":"additional","affiliation":[{"name":"Department of Applied Statistics and Operations Research and Quality, Universitat Polit\u00e8cnica de Val\u00e8ncia, 46022 Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Cattinari","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n de Atrofia Muscular Espinal, FundAME, 28034 Madrid, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eugenia","family":"Ib\u00e1\u00f1ez Albert","sequence":"additional","affiliation":[{"name":"Rehabilitation Department, Hospital Universitario y Polit\u00e9cnico la Fe, 46026 Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mercedes","family":"L\u00f3pez Lobato","sequence":"additional","affiliation":[{"name":"Neuropediatric Department, Hospital Universitario Virgen del Roc\u00edo, 41013 Sevilla, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy","family":"\u00d1ungo Garz\u00f3n","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit, Hospital Universitario y Polit\u00e9cnico la Fe, Institute for Health Research La Fe (IISLAFE), 46026 Valencia, Spain"},{"name":"Faculty of Medicine, Universitat de Val\u00e8ncia, 46010 Valencia, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Rojas","sequence":"additional","affiliation":[{"name":"Rehabilitation Department, Hospital Universitario Virgen del Roc\u00edo, 41013 Sevilla, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Puig-Ram","sequence":"additional","affiliation":[{"name":"Neuromuscular Diseases Unit, Institut de Recerca Sant Joan de D\u00e9u, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcos","family":"Madruga-Garrido","sequence":"additional","affiliation":[{"name":"Secci\u00f3n de Neurolog\u00eda Pedi\u00e1trica, Hospital Universitario Virgen del Roc\u00edo, 41013 Sevilla, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,11,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1016\/j.ejpn.2018.08.009","article-title":"Prenatal aspects in spinal muscular atrophy: From early detection to early presymptomatic intervention","volume":"22","author":"Tizzano","year":"2018","journal-title":"Eur. 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