The International Classification of Functioning, Disability and Health-Children and Youth as a framework for the management of spinal muscular atrophy in the era of gene therapy: a proof-of-concept study
| Autor: | Antonella Di Liddo, Rossella Pacifico, Antonio Trabacca, Luciana Losito, Teresa Vespino, Elisabetta Lucarelli |
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| Rok vydání: | 2020 |
| Předmět: |
Male
030506 rehabilitation medicine.medical_specialty medicine.medical_treatment Physical Therapy Sports Therapy and Rehabilitation Neurological examination Proof of Concept Study Muscular Atrophy Spinal 03 medical and health sciences Disability Evaluation 0302 clinical medicine Physical medicine and rehabilitation Quality of life (healthcare) International Classification of Functioning Disability and Health medicine Humans Physical Therapy Modalities Rehabilitation medicine.diagnostic_test business.industry Infant Spinal muscular atrophy Genetic Therapy medicine.disease SMA Functional Independence Measure Nusinersen 0305 other medical science business 030217 neurology & neurosurgery |
| Zdroj: | European journal of physical and rehabilitation medicine. 56(2) |
| ISSN: | 1973-9095 |
| Popis: | Background Management of spinal muscular atrophy (SMA) has progressed enormously and reached unprecedented levels with nusinersen gene therapy. We are finally able to counter the progression of this devastating genetic disease, contributing to the definition of new trajectories in its natural history and the identification of new SMA phenotypes post-gene therapy. The aim of this paper was to use the The International Classification of Functioning, Disability and Health-Children and Youth as a framework for the management of spinal muscular atrophy in the era of gene therapy: a proof-of-concept study (ICF-CY) as a comprehensive documentation tool to better understand and improve care provided to a child with SMA and to illustrate its use in a multidisciplinary perspective with a proof-of-concept study. Case report An SMA child under gene therapy receiving a rehabilitation program. Clinical and functional outcome measures assessed at all levels of the ICF-CY, including impairment by Hammersmith Infant Neurological Examination, activity by Hammersmith Functional Motor Scale and Functional Independence Measure for Children, and participation by Pediatric Quality of Life Inventory™ - PedsQL™ and Neuromuscular Module™ as well as by parent report. Treatment outcomes were assessed at two main time points: at T0: prior to administration of nusinersen, and T1: immediately before the first administration of maintenance doses, 6 months after the first administration of nusinersen. A significant clinical improvement was seen on all domains between T0 and T1. The patient improved especially in motor skills and motor disability severity. The HRQOL showed a substantial improvement, too. ICF-CY codes were used to document change in body functions or structures, performance of activities or participation in social roles both in terms of gradient and hierarchy of change. This proof-of-concept study is the first attempt to explore SMA in a comprehensive manner from the perspective of the ICF-CY using a selected set of codes. These codes define essential child dimensions that can make up an ICF-CY core set, as identified by a trained multidisciplinary team, to guide assessment, treatment and rehabilitation. Clinical rehabilitation impact Although limited to a single patient, this study makes nonetheless a strong point: we suggest using the ICF-CY as an essential tool in SMA management at a time when gene therapy with nusinersen is changing the phenotypes of activity and functioning in these children. |
| Databáze: | OpenAIRE |
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