Challenges Faced By Families of SMA Patients

Year 2024, , 541 - 547, 10.10.2024

Burçin Aysu , Serkan Yılmaz , Neriman Aral , Fatih Aydoğdu

https://doi.org/10.62425/esbder.1497446

Abstract

SMA, a genetic neuromuscular disease that affects the control of muscle movement and results in severe motor disorders, is among the rare diseases. Due to the low prevalence of rare diseases and serious problems with correct diagnosis, there may be delays in diagnosis. When the studies on SMA are examined, it is known that the issues related to diagnosis are mostly emphasised, but a limited number of studies have been conducted on the current issues of patients with SMA or their caregivers. In addition to studies on treatment, it would be useful to consider the patient and his/her environment together in studies on the quality of life of patients and caregivers. Examining the concept of quality of life in SMA disease will form the basis for studies on quality of life, and at the same time, the continuity of studies on the subject will be ensured. In this sense, current issues the treatment of patients diagnosed with SMA was addressed in this study. The fact that these patients experience significant deficiencies such as respiratory impairment, malnutrition and skeletal deformity causes them to face difficulties in meeting their basic needs, especially in nutrition and toileting. These problems reduce the quality of life of patients and their relatives. Therefore, early diagnosis and providing medical, psychological, and social support to patients and their relatives will be effective in their quality of life. In this review, recommendations were made to address the current issues of SMA patients and their relatives.

Keywords

Genetic neuromuscular disease, spinal muscular atrophy, types of spinal muscular atrophy, treatment

SMA Hastalarının Ailelerinin Karşılaştığı Zorluklar

Abstract

Kas hareketinin kontrolünü etkileyen ve ciddi motor bozukluklarla sonuçlanan genetik bir nöromüsküler hastalık olan SMA, nadir görülen hastalıklar arasında yer alıyor. Nadir hastalıkların görülme sıklığının düşük olması ve doğru tanıda ciddi sorunlar yaşanması nedeniyle tanıda gecikmeler yaşanabilmektedir. SMA ile ilgili yapılan çalışmalar incelendiğinde çoğunlukla tanıya ilişkin konuların vurgulandığı ancak SMA hastası veya bakım verenlerin güncel sorunlarına yönelik sınırlı sayıda çalışmanın yapıldığı bilinmektedir. Tedaviye yönelik yapılan çalışmaların yanında hastaların ve bakım verenlerin yaşam kalitesine yönelik çalışmalarda hasta ve çevresinin birlikte ele alınmasının yararlı olacaktır. SMA hastalığında yaşam kalitesi kavramının ele alınarak incelenmesi, yaşam kalitesi ile ilgili çalışmalara temel oluşturacak, aynı zamanda konu ile ilgili çalışmaların sürekliliği sağlanacaktır. Bu anlamda bu çalışmada SMA tanısı alan hastaların tedavisindeki güncel konulara değinilmiştir. Bu hastaların solunum yetmezliği, yetersiz beslenme ve iskelet deformitesi gibi önemli eksiklikler yaşaması, beslenme ve tuvalet başta olmak üzere temel ihtiyaçlarının karşılanmasında zorluk yaşamalarına neden olmaktadır. Bu sorunlar hasta ve yakınlarının yaşam kalitesini düşürmektedir. Bu nedenle erken teşhis ve hasta ve yakınlarına tıbbi, psikolojik ve sosyal destek sağlanması yaşam kaliteleri üzerinde etkili olacaktır. Bu derlemede, SMA hastalarının ve yakınlarının güncel sorunlarına yönelik önerilerde bulunulmuştur.

Keywords

Genetik nöromüsküler hastalık, spinal müsküler atrofi, spinal müsküler atrofi çeşitleri, tedavi

References

• Barkats, M. (2020). Amyotrophie spinale infantile-De la découverte du gène à la thérapie génique. Médecine/Sciences, 36(2), 137-140.
• Belter, L., Cruz, R., & Jarecki, J. (2020). Quality of life data for individuals affected by spinal muscular atrophy: a baseline dataset from the Cure SMA Community Update Survey. Orphanet Journal of Rare Diseases, 15(1), 1-11.
• Canary, H. E., Clark, Y. K., & Holton, A. (2018). Structurating expanded genetic carrier screening: A longitudinal analysis of online news coverage. Journal of Health Communication, 23(6), 534-541.
• Çankaya, T., (2010). Spinal musküler atrofi için prenatal tanı. Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi, 24(2), 65-68.
• Chambers, G. M., Settumba, S. N., Carey, K. A., Cairns, A., Menezes, M. P., Ryan, M., & Farrar, M. A. (2020). Prenusinersen economic and health-related quality of life burden of spinal muscular atrophy. Neurology, 95(1), e1-e10. https:// doi.org/10.1212/WNL.000000000000971
• Crawford, T. O. (2017). Standard of Care for Spinal Muscular Atrophy. Spinal Muscular Atrophy Disease Mechanisms And Therapy. Ed.: Charlotte J. Sumner, Sergey Paushkin, Chien-Ping Ko, 43-57. New York: Elsevier. https://doi.org/10.1016/B978-0-12-803685-3.00003-3
• Eisenkölbl, A. (2021). Neue Therapiemöglichkeiten der spinalen Muskelatrophie. Pädiatrie & Pädologie, 56(2), 59-66. https://doi.org/10.1007/s00608-021-00870-0
• Fischer, M. J., Ketelaar, M., van der Veere, P. J., Verhoef, M., Wadman, R. I., Visser-Meily, J. M. A., ... & Schröder, C. D. (2021). Illness perceptions in pediatric spinal muscular atrophy: agreement between children and their parents, and its association with quality of life. Journal of Developmental and Physical Disabilities, 33(2), 297-310.
• Glowinski, S., & Blazejewski, A. (2020). SPIDER as A Rehabilitation Tool for Patients with Neurological Disabilities: The Preliminary Research. Journal of Personalized Medicine, 10(2), 2-9.
• Houdebine, L., D’Amico, D., Bastin, J., Chali, F., Desseille, C., Rumeau, V., ... & Biondi, O. (2019). Low-intensity running and high-intensity swimming exercises differentially improve energy metabolism in mice with mild spinal muscular atrophy. Frontiers in Physiology, 10, 1258. https://doi.org/10.3389/fphys.2019.01258
• Kim, A. R., Lee, J. M., Min, Y. S., Lee, H., Kim, D., Hwang, S. K., ... & Lee, Y. J. (2020). Clinical experience of nusinersen in a broad spectrum of spinal muscular atrophy: A retrospective study. Annals of Indian Academy of Neurology, 23(6), 796-801. 10.4103/aian.AIAN_524_20
• Lin, C. W., Kalb, S. J., & Yeh, W. S. (2015). Delay in diagnosis of spinal muscular atrophy: a systematic literature review. Pediatric Neurology, 53(4), 293-300.
• Lloyd, A. J., Thompson, R., Gallop, K., & Teynor, M. (2019). Estimation of the quality of life benefits associated with treatment for spinal muscular atrophy. ClinicoEconomics and outcomes research: Clinico Economics and Outcomes Research (CEOR), 11, 615–622.
• Marcellusi, A., Bini, C., Casiraghi, J., D’Ambrosio, F., Rotundo, M. A., Pallara, A., & Mennini, F. S. (2019). Cost of illness of spinal muscular atrophy (SMA) in Italy. Global & Regional Health Technology Assessment, 2019, 1-12.
• Marcus, E. M., & Jacobson, S. (2012). Integrated Neuroscience: A Clinical Problem Solving Approach. New York: Springer Science & Business Media.
• Mercuri, E., Messina, S., Montes, J., Muntonif, F., Sansone, V. A., et al. (2020). Patient and parent oriented tools to assess health-related quality of life, activity of daily living and caregiver burden in SMA (Workshop report). Neuromuscular Disorders, 30: 431–436.
• Michalík, J. (2014). The quality of life of caregivers who care for a child with a rare disease–perception of changes as a result of care in the czech republic. Procedia-Social and Behavioral Sciences, 112, 1149-1159.
• Nizzardo, M., Simone, C., Rizzo, F., Salani, S., Dametti, S., Rinchetti, P., ... & Corti, S. (2015). Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model. Science Advances, 1(2), e1500078. 10.1126/sciadv.1500078
• Oskoui, M., Darras, B.T., De Vivo, D.C. (2017). Spinal Muscular Atrophy: 125 Years Later and on the Verge of a Cure. Spinal Muscular Atrophy Disease Mechanisms And Therapy. Ed.: Charlotte J. Sumner, Sergey Paushkin, Chien-Ping Ko, 3-17. New York: Elsevier. https://doi.org/10.1016/B978-0-12-803685-3.00001-X
• Oudgenoeg-Paz, O., & Rivière, J. (2014). Self-locomotion and spatial language and spatial cognition: insights from typical and atypical development. Frontiers in Psychology, 5, 92109. https://doi.org/10.3389/fpsyg.2014.00521
• Parker, J. N., & Parker, P. M. (Eds.). (2007). Spinal Muscular Atrophy-A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers. ICON Group International.
• Peña-Longobardo, L. M., Aranda-Reneo, I., Oliva-Moreno, J., Litzkendorf, S., Durand-Zaleski, I., Tizzano, E., & López-Bastida, J. (2020). The economic impact and health-related quality of life of spinal muscular atrophy. An analysis across Europe. International Journal of Environmental Research and Public Health, 17(16), 2-12.
• Pérez-García, M.J., Kong, L., Sumner, C.J., Tizzano, E.F. (2017). Developmental Aspects and Pathological Findings in Spinal Muscular Atrophy. Spinal Muscular Atrophy Disease Mechanisms And Therapy. Ed.: Charlotte J. Sumner, Sergey Paushkin, Chien-Ping Ko, 21-40. New York: Elsevier. https://doi.org/10.1016/B978-0-12-803685-3.00002-1
• Salem, Y., & Jaffee Gropack, S. (2010). Aquatic therapy for a child with type III spinal muscular atrophy: a case report. Physical & Occupational Therapy in Pediatrics, 30(4), 313-324.
• Vaidya, S., & Boes, S. (2018). Measuring quality of life in children with spinal muscular atrophy: a systematic literature review. Quality of Life Research, 27(12):3087-94
• Vega, P., Glisser, C., Castiglioni, C., Amézquita, M. V., Quirola, M., & Barja, S. (2020). Quality of life in children and adolescents with Spinal Muscular Atrophy. Rev Chil Pediatr, 91(4), 512-520. 10.32641/rchped.v91i4.1443
• Vill, K., Schwartz, O., Blaschek, A., Gläser, D., Nennstiel, U., Wirth, B., ... & Müller-Felber, W. (2021). Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years. Orphanet Journal of Rare Diseases, 16(1), 1-10.
• Weaver, M. S., Hanna, R., Hetzel, S., Patterson, K., Yuroff, A., Sund, S., ... & Halanski, M. A. (2020). A prospective, crossover survey study of child-and proxy-reported quality of life according to spinal muscular atrophy type and medical interventions. Journal of Child Neurology, 35(5), 322-330.
• Yao, M., Ma, Y., Qian, R., Xia, Y., Yuan, C., Bai, G., & Mao, S. (2021). Quality of life of children with spinal muscular atrophy and their caregivers from the perspective of caregivers: a Chinese cross-sectional study. Orphanet Journal of Rare Diseases, 16(1), 1-13.