| Autor: |
Pitarch-Castellano I; Neuropediatric Department, Hospital Universitario y Politécnico la Fe, 46026 Valencia, Spain., Hervás D; Department of Applied Statistics and Operations Research and Quality, Universitat Politècnica de València, 46022 Valencia, Spain., Cattinari MG; Fundación de Atrofia Muscular Espinal, FundAME, 28034 Madrid, Spain., Ibáñez Albert E; Rehabilitation Department, Hospital Universitario y Politécnico la Fe, 46026 Valencia, Spain., López Lobato M; Neuropediatric Department, Hospital Universitario Virgen del Rocío, 41013 Sevilla, Spain., Ñungo Garzón NC; Neuromuscular Diseases Unit, Hospital Universitario y Politécnico la Fe, Institute for Health Research La Fe (IISLAFE), 46026 Valencia, Spain.; Faculty of Medicine, Universitat de València, 46010 Valencia, Spain., Rojas J; Rehabilitation Department, Hospital Universitario Virgen del Rocío, 41013 Sevilla, Spain., Puig-Ram C; Neuromuscular Diseases Unit, Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, Spain., Madruga-Garrido M; Sección de Neurología Pediátrica, Hospital Universitario Virgen del Rocío, 41013 Sevilla, Spain. |
| Abstrakt: |
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, 27% 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 (>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. |
