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

Trabacca, Antonio; Lucarelli, Elisabetta; Pacifico, Rossella; Vespino, Teresa; Liddo, Antonella Di; Losito, Luciana

doi:10.23736/s1973-9087.20.05968-7

Cited by 7 publications

(4 citation statements)

References 31 publications

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“…There is no basic set approved by the World Health Organization for children with SMA. At the same time, a clinical case of evaluating the e˜ ectiveness of gene treatment was published, where the authors presented the management of SMA and evaluation of the e˜ ectiveness of treatment in accordance with the ICF, a categorical pro˝ le was formed [21].…”

Section: Review and Discussionmentioning

confidence: 99%

“…Specialists should work in an interdisciplinary team and take into account not only the patient's medical needs, but also take into account and respect their social, cultural and spiritual needs. The International Classi˝ cation of Functioning, Disability and Health (ICF) is the classi˝ cation, in terms of which we can cover all the patient's problems caused by SMA, which allows doctors to diagnose these problems in time, assess the level of functionality and rate of disease progression, select medical treatment and rehabilitation interventions [21,22].…”

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confidence: 99%

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Application of ICF classification system in functional assessment of children with spinal muscular atrophy

Nazar¹,

Hurzhii²,

Martyniuk³

et al. 2022

MPU

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Spinal muscular atrophy (SMA) is a rare genetic inherited neuromuscular disease that requires a comprehensive multidisciplinary approach to diagnosis and treatment. Purpose - to provide a review of scientific works on comprehensive care for children with SMA according to the principles of the International Classification of Functioning, Disability and Health (ICF), standardized tools for assessing the functional status of the patient. Materials and methods. The article presents the data of the literature review on the use of ICF principles in the organization of care for children with SMA, the use of standardized tools for assessing the functional status of the patient. Review and discussion. The implementation of the IСF in daily practice helps to improve the rehabilitation aid to children with SMA. Using the philosophy of the ICF, physicians began to comprehensively assess the health of the child, to estimate the functionality of the child using standardized tools, to form rehabilitation goals in accordance with the functional capabilities of the child, to determine environmental factors which do not allow the child to fully realize their rehabilitation potential. Conclusions. ICF makes it possible to determine of all aspects of the life of a child with SMA and to determine the impact of environmental factors on its level of functioning. According to ICF principles it is necessary to use standardized tools to assess the health status and the functional activity of a child with SMA, for evaluating the effectiveness of rehabilitation. No conflict of interests was declared by the authors. Key words: ICF, spinal muscular atrophy, rehabilitation, functioning.

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Section: Review and Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Application of ICF classification system in functional assessment of children with spinal muscular atrophy

Nazar¹,

Hurzhii²,

Martyniuk³

et al. 2022

MPU

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“…It represents a standardized tool for the evaluation of child’s function. The assessment is given on a 5-point scale, where 0 means no impairment and 4 means total disability [ 14 , 15 ]. The treating physicians filled out two different ICF-CY scales (“Body Function” and “Activity and Participation”) to assess the children’s global functional competence.…”

Section: Methodsmentioning

confidence: 99%

A pilot study on sports activities in pediatric palliative care: just do it

et al. 2023

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Background There has been a growing interest in studying the value of physical exercise in children with disabilities or chronic health conditions because of evidence of improvement in quality of life, social acceptance, and physical functioning. However, only scant evidence exists for routine sports activities in children requiring pediatric palliative care (PPC), and in most cases, such evidence has been collected in oncological patients. The Pediatric Hospice of Padua is the referral center for PPC in the Veneto region (northern Italy). Starting from the experience of this PPC center, this pilot study aims to describe the personal experience of children and young people who practice physical activity and their caregivers’ perspectives, focusing particularly on the emotional and social impact of exercise and sports practice. Methods Patients involved in at least one regular and structured sports activity were included in the pilot analysis. Two different ICF-CY (International Classification of Functioning, Disability and Health-Children and Youth Version) scales (“Body Function” and “Activity and Participation”) were filled out to assess the children’s global functional competence. Two online ad hoc questionnaires were created and administered to children, when able to respond, and caregivers. Results A total of 9% of patients reported being involved in a sports activity. All children who played sports did not have indications of cognitive retardation. The most practiced sport was swimming. The use of standardized methods such as ICF-CY shown that severe motor impairments do not limit sports accessibility. Questionnaires result suggest that sports are a positive experience for both children needing PPC and their parents. Children encourage other children to do sports and can find the positive side even in difficulties. Conclusion Since PPC is encouraged as early as the diagnosis of incurable pathologies, the inclusion of sports activities in the context of a PPC plan should be considered from the perspective of improving quality of life.

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“…Anak dengan SMA tipe II (Dubowitz disease) akan menampakan gejala di usia 6-18 bulan berupa kelemahan otot tungkai bawah progresive serta keterbatasan dalam bernafas sebagian besar hanya mampu untuk duduk, dan maksimal hanya mampu untuk berdiri. Bentul selanjutnya adalah tipe III dan IV dengan gejala yang muncul diatas usia 18 bulan dan bisa hidup normal (Trabacca et al, 2020).…”

Section: Pendahuluanunclassified

Penatalaksanaan Fisioterapi pada Anak dengan Spinal Muscular Atrophy Literature Review

Hidayat

Naufal

2021

FisioMu

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Spinal Muscular Athrophy (SMA) adalah penyakit autosomal resesif yang terjadi akibat adanya delesi ataupun mutasi pada protein survival motor neuron (SMN). Tujuan penelitian ini adalah untuk mengetahui penanganan fisioterapi pada anak dengan SMA melalui tinjauan literatur. Metode yang digunakan adalah mencari sumber data menggunakan delapan mesin pencarian (Scholar, PubMed, Orphanet, PlosOne, Sage publication,BMC,PEDro dan Cochrane). Menggabungkan kata kunci dengan menggunakan pencarian "Spinal Muscular Athropy" atau "Spinal Muscular Atrophy and Physyical therapy. Hasilnya dari seratus jurnal yang di temukan, terdapat enam jurnal yang membahas penanganan fisioterapi pada kasus SMA beserta dosisnya.

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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

Cited by 7 publications

References 31 publications

Application of ICF classification system in functional assessment of children with spinal muscular atrophy

Application of ICF classification system in functional assessment of children with spinal muscular atrophy

A pilot study on sports activities in pediatric palliative care: just do it

Penatalaksanaan Fisioterapi pada Anak dengan Spinal Muscular Atrophy Literature Review

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