Application of ICF classification system in functional assessment of children with spinal muscular atrophy
DOI:
https://doi.org/10.15574/SP.2022.122.50Keywords:
spinal muscular atrophy, rehabilitation, functioning, ICFAbstract
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.
References
Bayley N. (2006). Bayley Scales of Infant and Toddler Development - Third Edition. San Antonio, TX: Harcourt Assessment. https://doi.org/10.1037/t14978-000
Bérard C et al. (2005). A motor function measure for neuromuscular diseases. Construction and validation study. Neuromuscul Disord. 15 (7): 463-470. https://doi.org/10.1016/j.nmd.2005.03.004; PMid:16106528
Bertini E, Day J, Muhaizea M, Xiong H et al. (2019). A study of risdiplam (RG7916) in newborns with pre-symptomatic spinal muscular atrophy (SMA). Neuromuscular Disorders. 29: S187. https://doi.org/10.1016/j.nmd.2019.06.524
Brzustowicz LM, Lehner T, Castilla LH et al. (2018). Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disorders. 28 (2): 103-115.
De Sanctis R et al. (2016). Developmental milestones in type I spinal muscular atrophy. Neuromuscul Disord. 26 (11): 754-759. https://doi.org/10.1016/j.nmd.2016.10.002; PMid:27769560 PMCid:PMC5091285
Finkel R, Mercuri E et al. (2018). Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscular Disorders. 28 (3): 197-207. https://doi.org/10.1016/j.nmd.2017.11.004; PMid:29305137
Gidaro T, Servais L. (2018). Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps. Developmental Medicine & Child Neurology. 61 (1): 19-24. https://doi.org/10.1111/dmcn.14027; PMid:30221755
Glanzman A et al. (2010). The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): Test development and reliability. Neuromuscul Disord. 20 (3): 155-161. https://doi.org/10.1016/j.nmd.2009.11.014; PMid:20074952 PMCid:PMC3260046
Glanzman A et al. (2011). Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND). Pediatr Phys Ther. 23 (4): 322-326. https://doi.org/10.1097/PEP.0b013e3182351f04; PMid:22090068
ICF. (2021). ICF Case Studies - Home. URL: https://www.icf-casestudies.org/.
Lexell J, Brogårdh C. (2015). The use of ICF in the neurorehabilitation process. Neuro Rehabilitation. 36 (1): 5-9. https://doi.org/10.3233/NRE-141184; PMid:25547759
Mazzone E et al. (2011, Jun). Assessing upper limb function in nonambulant SMA patients: development of a new module. Neuromuscul Disord. 21 (6): 406-412. https://doi.org/10.1016/j.nmd.2011.02.014; PMid:21421316
Mazzone E et al. (2017, Jun). Revised upper limb module for spinal muscular atrophy: Development of a new module. Muscle Nerve. 55 (6): 869-874. https://doi.org/10.1002/mus.25430; PMid:27701745
Mercuri E et al. (2016, Feb). Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials. Neuromuscul Disord. 26 (2): 126-131. Epub 2015 Dec 3.
Mercuri E, SMA Care Group et al. (2018). Diagnosis and management of spinal muscular atrophy. Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular disorders. 28 (2): 103-115. https://doi.org/10.1016/j.nmd.2017.11.005; PMid:29290580
MOZ. (2021). MKF. URL: https://moz.gov.ua/mkf. Accessed 2 September 2021.
O'Hagen J et al. (2007). An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients. Neuromuscul Disord. 17 (3): 693-697. https://doi.org/10.1016/j.nmd.2007.05.009; PMid:17658255
Pierzchlewicz K, Kępa I, Podogrodzki J, Kotulska K. (2021). Spinal Muscular Atrophy: The Use of Functional Motor Scales in the Era of Disease-Modifying Treatment. Child neurology open: 8. https://doi.org/10.1177/2329048X211008725; PMid:33997096 PMCid:PMC8107939
Ropars J, Peudenier S, Genot A, Barnerias C, Espil C. (2020). Multidisciplinary approach and psychosocial management of spinal muscular atrophy (SMA). Archives de Pédiatrie. 27 (7): 7S45-7S49. https://doi.org/10.1016/S0929-693X(20)30277-3
Rosenbaum P, Gorter J. (2011). The "F‐words" in childhood disability: I swear this is how we should think! Child: Care, Health and Development. 38 (4): 457-463. https://doi.org/10.1111/j.1365-2214.2011.01338.x; PMid:22040377
Trabacca A, Lucarelli E, Pacifico R, Vespino T, Di Liddo A, Losito L. (2020). 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. European Journal of Physical and Rehabilitation Medicine. 56: 2. https://doi.org/10.23736/S1973-9087.20.05968-7
Trabacca A, Russo L. (2019). Children's rare disease rehabilitation: from multidisciplinarity to the transdisciplinarity approach. European Journal of Physical and Rehabilitation Medicine. 55: 1. https://doi.org/10.23736/S1973-9087.17.04900-0
Trundell D, Le Scouiller S, Servais L et al. (2019). Using Rasch analysis to estimate thresholds associated with gain / loss of daily function on the Motor Function Measure (MFM). Poster presented at the Cure SMA Researcher Meeting, Poster at 23rd International SMA Research Meeting, Anaheim, CA.
Ulrich S et al. (2013, Aug 5). Reference values for the 6-minute walk test in healthy children and adolescents in Switzerland. BMC Pulm Med. 13: 49. https://doi.org/10.1186/1471-2466-13-49; PMid:23915140 PMCid:PMC3750631
Vuillerot C et al. (2013, Aug). MFM Spinal Muscular Atrophy Study Group. Responsiveness of the motor function measure in patients with spinal muscular atrophy. Arch Phys Med Rehabil. 94 (8): 1555-1561. https://doi.org/10.1016/j.apmr.2013.01.014; PMid:23380348
WHO. (2021). International Classification of Functioning, Disability and Health (ICF). URL: https://www.who.int/standards/classifications/international-classification-of-functioning-disability-and-health.
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