Pain in Children and Adolescents with Spinal Muscular Atrophy: A Longitudinal Study from a Patient Registry
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 a...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-11-01
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| Series: | Children |
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| Online Access: | https://www.mdpi.com/2227-9067/10/12/1880 |
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| author | Inmaculada Pitarch-Castellano David Hervás Maria Grazia Cattinari Eugenia Ibáñez Albert Mercedes López Lobato Nancy Carolina Ñungo Garzón Juan Rojas Cristina Puig-Ram Marcos Madruga-Garrido |
| author_facet | Inmaculada Pitarch-Castellano David Hervás Maria Grazia Cattinari Eugenia Ibáñez Albert Mercedes López Lobato Nancy Carolina Ñungo Garzón Juan Rojas Cristina Puig-Ram Marcos Madruga-Garrido |
| author_sort | Inmaculada Pitarch-Castellano |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-08T20:53:26Z |
| format | Article |
| id | doaj.art-1fa68c40e96a4d09b7aa2772b026b2e6 |
| institution | Directory Open Access Journal |
| issn | 2227-9067 |
| language | English |
| last_indexed | 2024-03-08T20:53:26Z |
| publishDate | 2023-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Children |
| spelling | doaj.art-1fa68c40e96a4d09b7aa2772b026b2e62023-12-22T14:00:22ZengMDPI AGChildren2227-90672023-11-011012188010.3390/children10121880Pain in Children and Adolescents with Spinal Muscular Atrophy: A Longitudinal Study from a Patient RegistryInmaculada Pitarch-Castellano0David Hervás1Maria Grazia Cattinari2Eugenia Ibáñez Albert3Mercedes López Lobato4Nancy Carolina Ñungo Garzón5Juan Rojas6Cristina Puig-Ram7Marcos Madruga-Garrido8Neuropediatric Department, Hospital Universitario y Politécnico la Fe, 46026 Valencia, SpainDepartment of Applied Statistics and Operations Research and Quality, Universitat Politècnica de València, 46022 Valencia, SpainFundación de Atrofia Muscular Espinal, FundAME, 28034 Madrid, SpainRehabilitation Department, Hospital Universitario y Politécnico la Fe, 46026 Valencia, SpainNeuropediatric Department, Hospital Universitario Virgen del Rocío, 41013 Sevilla, SpainNeuromuscular Diseases Unit, Hospital Universitario y Politécnico la Fe, Institute for Health Research La Fe (IISLAFE), 46026 Valencia, SpainRehabilitation Department, Hospital Universitario Virgen del Rocío, 41013 Sevilla, SpainNeuromuscular Diseases Unit, Institut de Recerca Sant Joan de Déu, Santa Rosa 39-57, 08950 Esplugues de Llobregat, SpainSección de Neurología Pediátrica, Hospital Universitario Virgen del Rocío, 41013 Sevilla, SpainSpinal 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.https://www.mdpi.com/2227-9067/10/12/1880painspinal muscular atrophyneuromuscular diseasechildrenadolescent natural historypatient registry |
| spellingShingle | Inmaculada Pitarch-Castellano David Hervás Maria Grazia Cattinari Eugenia Ibáñez Albert Mercedes López Lobato Nancy Carolina Ñungo Garzón Juan Rojas Cristina Puig-Ram Marcos Madruga-Garrido Pain in Children and Adolescents with Spinal Muscular Atrophy: A Longitudinal Study from a Patient Registry Children pain spinal muscular atrophy neuromuscular disease children adolescent natural history patient registry |
| title | Pain in Children and Adolescents with Spinal Muscular Atrophy: A Longitudinal Study from a Patient Registry |
| title_full | Pain in Children and Adolescents with Spinal Muscular Atrophy: A Longitudinal Study from a Patient Registry |
| title_fullStr | Pain in Children and Adolescents with Spinal Muscular Atrophy: A Longitudinal Study from a Patient Registry |
| title_full_unstemmed | Pain in Children and Adolescents with Spinal Muscular Atrophy: A Longitudinal Study from a Patient Registry |
| title_short | Pain in Children and Adolescents with Spinal Muscular Atrophy: A Longitudinal Study from a Patient Registry |
| title_sort | pain in children and adolescents with spinal muscular atrophy a longitudinal study from a patient registry |
| topic | pain spinal muscular atrophy neuromuscular disease children adolescent natural history patient registry |
| url | https://www.mdpi.com/2227-9067/10/12/1880 |
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