Spinal muscular atrophy: health related quality of life and burden to parents
Article Sidebar
Main Article Content
Abstract
Objective: To analyze the relationship between the quality of life (QoL) of children and adolescents with Spinal Muscular Atrophy (SMA) and the burden on their parents. Methods: A cross-sectional study with 64 parents (53 women) of children and adolescents with SMA was conducted through an online questionnaire. Health-related QoL of children and adolescents with SMA according to the parents was evaluated using PedsQL 4.0, and Zarit Burden Interview (ZBI) was used to assess the burden on the parents. Correlation and association tests evaluated the relationship between the QoL of individuals with SMA, the burden on parents, and the factors related to these variables. Results: Parents aged between 21 and 52 years (mean 36.9 ± 7.3 years) were evaluated, of which 62.5% had a moderate burden. PedsQL 4.0 total score ranged from 19.6 to 93.5 points, and ZBI from 8 to 57 points. A negative correlation was observed between these variables (r = -0.4; p = 0.001). Furthermore, ZBI scores were related to the education level of parents (rho = 0.3; p = 0.02), changes in emotional or psychological health caused by SMA diagnosis in parents (rho = -0.4; p = 0.004), and family income (rho = 0.3; p = 0.03). Conclusion: Health-related QoL in children and adolescents with SMA was related to the burden on their parents. This highlights the importance of therapeutic programs focused on individuals with SMA, as well as the needs of their parents.
Article Details
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Authors maintain copyright and grant the Health Sciences Journal the right to first publication. From 2024, the publications wiil be licensed under Attribution 4.0 International 
, allowing their sharing, recognizing the authorship and initial publication in this journal.
Authors are authorized to assume additional contracts separately for the non-exclusive distribution of the version of the work published in this journal (e.g., publishing in an institutional repository or as a book chapter), with acknowledgment of authorship and initial publication in this journal.
Authors are encouraged to publish and distribute their work online (e.g., in institutional repositories or on their personal page) at any point after the editorial process.
Also, the AUTHOR is informed and consents that the Health Sciences Journal can incorporate his article into existing or future scientific databases and indexers, under the conditions defined by the latter at all times, which will involve, at least, the possibility that the holders of these databases can perform the following actions on the article.
References
2. Ross LF, Kwon JM. Spinal Muscular Atrophy: Past, Present, and Future. Neoreviews. 2019;20(8):e437-e51. https://doi.org/10.1542/neo.20-8-e437
3. Nash LA, Burns JK, Chardon JW, Kothary R, Parks RJ. Spinal Muscular Atrophy: More than a Disease of Motor Neurons? Curr Mol Med. 2016;16(9):779-92. https://doi.org/10.2174/1566524016666161128113338
4. Oskoui M, Kaufmann P. Spinal muscular atrophy. Neurotherapeutics. 2008;5(4):499-506. https://doi.org/10.1016/j.nurt.2008.08.007
5. Schorling DC, Pechmann A, Kirschner J. Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care. J Neuromuscul Dis. 2020;7(1):1-13. https://doi.org/10.3233/JND-190424
6. Martínez-Jalilie M, Lozano-Arango A, Suárez B, Born M, Jofré J, Diemer M, et al. Sobrecarga del cuidador de pacientes con atrofia muscular espinal. Rev Med Clin Condes. 2020;31(3-4):358-66. https://doi.org/10.1016/j.rmclc.2020.04.006
7. Pousada T, Groba B, Nieto-Riveiro L, Pazos A, Diez E, Pereira J. Determining the burden of the family caregivers of people with neuromuscular diseases who use a wheelchair. Medicine (Baltimore). 2018;97(24):e11039. https://doi.org/10.1097/MD.0000000000011039
8. Yao M, Ma Y, Qian R, Xia Y, Yuan C, Bai G, et al. quality of life of children with spinal muscular atrophy and their caregivers from the perspective of caregivers: a Chinese cross-sectional study. Orphanet J Rare Dis. 2021;16(1):7. https://doi.org/10.1186/s13023-020-01638-8
9. Klatchoian DA, Len CA, Terreri MTR, Silva M, Itamoto C, Ciconelli RM, et al. Qualidade de vida de crianças e adolescentes de São Paulo: confiabilidade e validade da versão brasileira do questionário genérico Pediatric Quality of Life InventoryTM versão 4.0. J Pediatr (Rio J). 2008;84:308-15. https://doi.org/10.1590/S0021-75572008000400005
10. Scazufca M. Brazilian version of the Burden Interview scale for the assessment of burden of care in carers of people with mental illnesses. Braz J Psychiatry. 2002;24:12-7. https://doi.org/10.1590/S1516-44462002000100006
11. Barros ALO, Barros AO, Barros GLdM, Santos MTBR. Sobrecarga dos cuidadores de crianças e adolescentes com Síndrome de Down. Cienc Saúde Colet. 2017;22:3625-34. https://doi.org/10.1590/1413-812320172211.31102016
12. Lin CW, Kalb SJ, Yeh WS. Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review. Pediatr Neurol. 2015;53(4):293-300. https://doi.org/10.1016/j.pediatrneurol.2015.06.002
13. Hjorth E, Kreicbergs U, Sejersen T, Jeppesen J, Werlauff U, Rahbek J, et al. Bereaved parents more satisfied with the care given to their child with severe spinal muscular atrophy than nonbereaved. J Child Neurol. 2019;34(2):104-12. https://doi.org/10.1177/0883073818811544
14. Ahmed HM, Advani R, Arif AA, Khan S. An Assessment of the Knowledge, Attitudes, and Practices of Patients and Families with Diagnoses of Hereditary Neuromuscular Disorders. Neuroepidemiology. 2020;54(3):265-71. https://doi.org/10.1159/000505330
15. Soares APT, da Silva BM, Santos LS, Gama GL. Transtorno do Espectro Autista (TEA): Conhecimento e Sobrecarga dos Pais. Rev Saúde Desenvol Humano. 2020;8(3):9-16. https://doi.org/10.18316/sdh.v8i3.6971
16. Meldrum C, Scott C, Swoboda KJ. Spinal muscular atrophy genetic counseling access and genetic knowledge: parents' perspectives. J Child Neurol. 2007;22(8):1019-26. https://doi.org/10.1177/0883073807305672
17. Pieper E, Sexton A, Ryan MM, Forbes R. Communication about spinal muscular atrophy and genetic risk within families: An Australian pilot study. J Paediatr Child Health. 2020;56(8):1263-9. https://doi.org/10.1111/jpc.14915
18. Caicedo C. Families with special needs children: family health, functioning, and care burden. J Am Psychiatr Nurses Assoc. 2014;20(6):398-407. https://doi.org/10.1177/1078390314561326
19. Gomes PT, Lima LH, Bueno MK, Araujo LA, Souza NM. Autism in Brazil: a systematic review of family challenges and coping strategies. J Pediatr (Rio J). 2015;91(2):111-21. https://doi.org/10.1016/j.jped.2014.08.009
20. Qian Y, McGraw S, Henne J, Jarecki J, Hobby K, Yeh WS. Understanding the experiences and needs of individuals with Spinal Muscular Atrophy and their parents: a qualitative study. BMC Neurol. 2015;15:217. https://doi.org/10.1186/s12883-015-0473-3
21. Dunaway S, Montes J, McDermott MP, Martens W, Neisen A, Glanzman AM, et al. Physical therapy services received by individuals with spinal muscular atrophy (SMA). J Pediatr Rehabil Med. 2016;9(1):35-44. https://doi.org/10.3233/PRM-160360
22. Lawton S, Hickerton C, Archibald AD, McClaren BJ, Metcalfe SA. A mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophy. Eur J Hum Genet. 2015;23(5):575-80. https://doi.org/10.1038/ejhg.2014.147
23. Govoni A, Gagliardi D, Comi GP, Corti S. Time Is Motor Neuron: Therapeutic Window and Its Correlation with Pathogenetic Mechanisms in Spinal Muscular Atrophy. Mol Neurobiol. 2018;55(8):6307-18. https://doi.org/10.1007/s12035-017-0831-9
24. Khanna AK, Prabhakaran A, Patel P, Ganjiwale JD, Nimbalkar SM. Social, Psychological and Financial Burden on Caregivers of Children with Chronic Illness: A Cross-sectional Study. Indian J Pediatr. 2015;82(11):1006-11. https://doi.org/10.1007/s12098-015-1762-y
25. Riffin C, Van Ness PH, Wolff JL, Fried T. Multifactorial Examination of Caregiver Burden in a National Sample of Family and Unpaid Caregivers. J Am Geriatr Soc. 2019;67(2):277-83. https://doi.org/10.1111/jgs.15664
26. Toledano-Toledano F, Moral de la Rubia J. Factors associated with anxiety in family caregivers of children with chronic diseases. Biopsychosoc Med. 2018;12:20. https://doi.org/10.1186/s13030-018-0139-7
27. Toledano-Toledano F, Luna D. The psychosocial profile of family caregivers of children with chronic diseases: a cross-sectional study. Biopsychosoc Med. 2020;14:29. https://doi.org/10.1186/s13030-020-00201-y
28. McMillan HJ, Gerber B, Cowling T, Khuu W, Mayer M, Wu JW, et al. Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada. J Neuromuscul Dis. 2021;8(4):553-68. https://doi.org/10.3233/JND-200610
29. Messina S, Frongia AL, Antonaci L, Pera MC, Coratti G, Pane M, et al. A critical review of patient and parent caregiver oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in spinal muscular atrophy. Neuromuscul Disord. 2019;29(12):940-50. https://doi.org/10.1016/j.nmd.2019.10.001