Perceived Impact on the Daily Lives of Patients With Spinal Muscular Atrophy Treated With Nusinersen: A Natural Language Processing Approach.
Objective: Spinal muscular atrophy (SMA) is a rare neuromuscular disorder caused by SMN1 mutations, leading to progressive muscle weakness. Although nusinersen improves motor function, its broader impact on daily life remains insufficiently understood. This study explored caregivers' perceptions of...
| Publicado en: | American Journal of Physical Medicine & Rehabilitation Vol. 105; no. 7; pp. 597 - 603 |
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| Autores principales: | , , , |
| Formato: | research tables/charts Journal Article |
| Publicado: |
Lippincott Williams & Wilkins
Jul2026
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=194875437&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 194875437 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 08949115 44N jtl: American Journal of Physical Medicine & Rehabilitation issn: 08949115 maglogo: N pubinfo: dt: Jul2026 vid: 105 iid: 7 pid: 5086 pub: Lippincott Williams & Wilkins place: Baltimore, Maryland artinfo: ui: 194875437 194875437 194875437 10.1097/PHM.0000000000002979 194875437 ppf: 597 ppct: 6 formats: tig: atl: Perceived Impact on the Daily Lives of Patients With Spinal Muscular Atrophy Treated With Nusinersen: A Natural Language Processing Approach. aug: au: Castellar-Leones, Sandra Ruiz-Ospina, Edicson Correa-Arrieta, Cristian Ortiz-Corredor, Fernando affil: Department of Physical Medicine and Rehabilitation, School of Medicine, Universidad Nacional de Colombia sug: subj: Muscular Atrophy, Spinal Drug Therapy Nucleotides Therapeutic Use Caregiver Attitudes Functional Status Natural Language Processing Human Male Female Child Nonexperimental Studies Retrospective Design Record Review Semi-Structured Interview Descriptive Statistics Data Analysis Software Questionnaires Thematic Analysis Quality of Life Hospitalization Recovery Deglutition Respiration Child: 6-12 years Male Female ab: Objective: Spinal muscular atrophy (SMA) is a rare neuromuscular disorder caused by SMN1 mutations, leading to progressive muscle weakness. Although nusinersen improves motor function, its broader impact on daily life remains insufficiently understood. This study explored caregivers' perceptions of nusinersen treatment and identified themes reflecting its influence on everyday functioning. Methods: An observational study included 23 children with SMA (10 type 2, 7 type 3, 6 type 1) treated with nusinersen for up to 36 months. The mean age at interview was 6.3 years (SD: 2.3). Caregivers completed a semistructured questionnaire with closed and open-ended items. Narrative responses were analyzed using natural language processing (NLP) and topic modeling to identify recurring patterns. Results: Caregivers reported consistent positive effects. NLP identified 3 thematic clusters: functional and daily progress (34.9%), global improvement and quality of life (33.6%), and hospitalization and physical recovery (31.5%). Reported benefits included improved swallowing, easier breathing, fewer hospitalizations, increased independence, and enhanced mood. Families emphasized reduced stress and improved family dynamics. Conclusions: Caregivers perceive nusinersen as providing meaningful improvements in daily functioning beyond motor outcomes. Incorporating caregiver-reported insights through NLP may enrich treatment evaluation and support holistic, patient-centered and family-centered care in SMA. pubtype: Academic Journal doctype: research tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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