{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T01:50:45Z","timestamp":1790214645672,"version":"4.1.0"},"reference-count":53,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T00:00:00Z","timestamp":1762732800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Life"],"abstract":"<jats:p>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 Methods: We 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\u2014the Children\u2019s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and the Hammersmith Functional Motor Scale Expanded (HFMSE)\u2014which are specifically designed to capture incremental changes in motor skills across the spectrum of SMA severity and age groups. Results: The 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 (p &lt; 0.01). Moreover, each follow-up score was significantly higher than both the baseline and the previous time point (all p &lt; 0.01), showing continuous improvement over time. Conclusions: These 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.<\/jats:p>","DOI":"10.3390\/life15111731","type":"journal-article","created":{"date-parts":[[2025,11,10]],"date-time":"2025-11-10T13:51:08Z","timestamp":1762782668000},"page":"1731","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["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"],"prefix":"10.3390","volume":"15","author":[{"given":"Madalina Cristina","family":"Leanca","sequence":"first","affiliation":[{"name":"Faculty of General Medicine, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 37 Dionisie Lupu Street, 020021 Bucharest, Romania"},{"name":"National University Center for Children Neurorehabilitation \u201cDr. Nicolae Robanescu\u201d, 44 Dumitru Minca Street, 041408 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-0532-2021","authenticated-orcid":false,"given":"Andrada","family":"Mirea","sequence":"additional","affiliation":[{"name":"Faculty of General Medicine, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 37 Dionisie Lupu Street, 020021 Bucharest, Romania"},{"name":"National University Center for Children Neurorehabilitation \u201cDr. Nicolae Robanescu\u201d, 44 Dumitru Minca Street, 041408 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6028-2407","authenticated-orcid":false,"given":"Georgiana","family":"Nicolae","sequence":"additional","affiliation":[{"name":"Faculty of General Medicine, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 37 Dionisie Lupu Street, 020021 Bucharest, Romania"},{"name":"National University Center for Children Neurorehabilitation \u201cDr. Nicolae Robanescu\u201d, 44 Dumitru Minca Street, 041408 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrei","family":"Capitanescu","sequence":"additional","affiliation":[{"name":"Children\u2019s Emergency Clinical Hospital \u201cMaria Sklodowska Curie\u201d, 20 Constantin Brancoveanu, 075534 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1084-7710","authenticated-orcid":false,"given":"Constantin","family":"Munteanu","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, Faculty of Medical Bioengineering, University of Medicine and Pharmacy \u201cGrigore T. Popa\u201d, 700115 Iasi, Romania"},{"name":"Teaching Emergency Hospital \u201cBagdasar-Arseni\u201d, 12 Berceni Avenue, 041915 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6346-8941","authenticated-orcid":false,"given":"Gelu","family":"Onose","sequence":"additional","affiliation":[{"name":"Faculty of General Medicine, University of Medicine and Pharmacy \u201cCarol Davila\u201d, 37 Dionisie Lupu Street, 020021 Bucharest, Romania"},{"name":"Teaching Emergency Hospital \u201cBagdasar-Arseni\u201d, 12 Berceni Avenue, 041915 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,11,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Chudakova, D., Kuzenkova, L., Fisenko, A., and Savostyanov, K. (2024). In Search of Spinal Muscular Atrophy Disease Modifiers. Int. J. Mol. 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