ArticleLife (Basel, Switzerland)2025
The Integrated Approach in Patients with Spinal Muscular Atrophy in the Era of Early Diagnosis, Etiopathogenic Therapies and Multidisciplinary Standards of Care and Rehabilitation Interventions Leads to New Phenotypes.
Article in Life (Basel, Switzerland), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
1 citing paper in PubMed.
- Neonatal Genetic Screening Results for Spinal Muscular Atrophy in Romania: Insights from a 3-Years Pilot Program.International journal of neonatal screening · 2026Article
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Novel targeted therapies have transformed spinal muscular atrophy from a condition with a predictable, severe course into a more heterogeneous disorder with a range of new clinical phenotypes and outcomes. The emergence of new phenotypes in spinal muscular atrophy is a recent development in the field. The introduction of new etiopathogenic pharmacological treatments have significantly altered the natural history of the disease, leading to previously unseen clinical presentations and outcomes. MATERIALS AND
methodsWe observed a cohort of 104 patients (children and adolescents), considering the number of SMN2 gene copies, the use of respiratory ventilation support devices and gastrointestinal support, and finally, their evolution on clinical-functional scales with physical therapy and rehabilitation interventions. With the increasing availability of effective therapies for spinal muscular atrophy, outcome measurement in clinical practice and research requires highly sensitive and reliable tools. In this study, motor function was systematically evaluated using two validated scales-the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and the Hammersmith Functional Motor Scale Expanded (HFMSE)-which are specifically designed to capture incremental changes in motor skills across the spectrum of SMA severity and age groups.
resultsThe median scores on the validated tools steadily increased over the 24 months of follow-up. Starting from 29 at baseline, the scores rose to 36 at 6 months, then to 39 at 12 months, 43 at 18 months, and 44.5 at 24 months. The Friedman test showed that these changes were statistically significant (
conclusionsThese findings reveal that the development of new SMA phenotypes is closely linked to the stage of disease at which treatment is initiated. Earlier intervention consistently enables patients to acquire previously unattainable motor skills. Consequently, enhancing diagnostic precision and expediting therapy initiation is crucial for maximizing clinical benefits and facilitating optimal functional outcomes.
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