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Gelişimsel Bakış Açısıyla Spinal Musküler Atrofi’de Çocuğun Sağlık Hakkı ve Yaşam Kalitesi

Year 2022, Volume: 7 Issue: 3, 629 - 635, 30.09.2022

Senemhan Yılmaz Bedriye Tuğba Karaaslan Gözde Akoğlu

Abstract

Spinal Musküler Atrofi, kaslardaki güçsüzlükle karakterize olan nörodejeneretif ve kalıtsal bir hastalıktır. Moleküler genetik testi ile tanılanan hastalık çocukluk çağı ölümlerinin önde gelen monogenik nedenidir. Beş tipi bulunan hastalığın, farklı etken maddelere sahip üç adet ilaç tedavisi mevcuttur. İlaçların yüksek maliyetli olması, ilaçlara erişimde yaşanan güçlükler, hastalığın seyrinin ağır olması ve yaşam kalitesinin etkilenmesi nedeniyle bakım verenler ve çocuklar zorlu süreçler yaşamaktadırlar. Spinal Musküler Atrofi hem bireyin hem de bakım vereninin yaşamını ekonomik, sosyal ve psikolojik kapsamda etkilemekte ve tedavi sürecinde disiplinler üstü çalışmayı gerekmektedir. Ek olarak, alanyazındaki araştırmalarda Spinal Musküler Atrofi’nin gelişimsel perspektiften ele alınmadığı dikkat çekmektedir. Bu nedenle bu derlemede; Spinal Musküler Atrofi hastalığına yönelik gelişimsel bakış açısının olası katkılarının ele alınması, hastalığın çocuğun sağlık hakkı ve yaşam kalitesi açısından tartışılması ve uzmanların, politika geliştiricilerin farkındalığının artmasına yönelik önerilerin sunulması amaçlanmıştır.

Keywords

Spinal musküler atrofi çocuk gelişimi sağlık hakkı yaşam kalitesi

References

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Child’s Right to Health and Quality of Life in Spinal Mucsular Atrophy by Developmental Perspective

Year 2022, Volume: 7 Issue: 3, 629 - 635, 30.09.2022

Senemhan Yılmaz Bedriye Tuğba Karaaslan Gözde Akoğlu

Abstract

Spinal Muscular Atrophy is a neurodegenerative and genetic disease characterized with muscle weakness. It is the leading monogenic cause of childhood death and is diagnosed by molecular genetic testing. The disease, which has five types, has three drug treatments with different active ingredients. Caregivers and children experience painful processes due to high cost of the drugs, difficulties in accessing the drugs, severe disease course, and the impact on quality of life. Spinal Muscular Atrophy affects both patients’ and caregivers’ life in economic, social and psychological contexts, which necessitates multidisciplinary teamwork during the treatment process. Moreover, it is noteworthy that Spinal Muscular Atrophy is not addressed from the perspective of child development in the studies present in the literature. Therefore, this review aimed to discuss the possible contributions of the developmental perspective towards Spinal Muscular Atrophy, to discuss the disease in the sense of the child’s right to health and quality of life, and to present recommendations for increasing the awareness of experts and policymakers.

Keywords

Spinal Muscular Atrophy child development right to health quality of life

References

  • Kolb SJ, Kissel JT. Spinal muscular atrophy: a timely review. Arch Neurol. 2011;68(8):979-84.
  • Brzustowicz LM, Lehner T, Castilla LH, Penchaszadeh GK, Wilhelmsen KC, Daniels R, et al. Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature. 1990;344(6266):540-1.
  • Darras BT. Spinal muscular atrophies. Pediatr Clin North Am. 2015;62(3):743-66.
  • Burghes AH, Beattie CE. Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat Rev Neurosci. 2009;10(8):597-609.
  • Pearn J. Classification of spinal muscular atrophies. Lancet. 1980;1(8174):919-22.
  • Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. 2008;371(9630):2120-33.
  • Ogino S, Wilson RB. Genetic testing and risk assessment for spinal muscular atrophy (SMA). Hum Genet. 2002;111(6):477-500.
  • smabenimleyuru.org.tr [Internet]. İstanbul: SMA Nedir? [cited 2022 May 30]. Available from: https://smabenimleyuru.org.tr/sma-nedir/.
  • T. C. Sağlık Bakanlığı Sağlık Hizmetleri Genel Müdürlüğü. Spinal Musküler Atrofi (SMA) Klinik Protokolü (Yayın No:1243). Ankara; 2022. Available from: https://shgm.saglik.gov.tr/Eklenti/43458/0/smakp08062022pdf. pdf?_tag1=78AF74910D6F5FD14E1B55F568CF2A48D9831CEB.
  • Messina S. New directions for SMA therapy. J Clin Med. 2018;7(9):251.
  • Arnold WD, Flanigan KM. A practical approach to molecular diagnostic testing in neuromuscular diseases. Phys Med Rehabil Clin N Am. 2012;23(3):589-608.
  • van der Steege G, Grootscholten PM, van der Vlies P, Draaijers TG, Osinga J, Cobben JM, et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet. 1995;345(8955):985-6.
  • Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80(1):155-65. doi: 10.1016/0092- 8674(95)90460-3.
  • losante.com.tr [Internet]. Ankara: SMA hastalığı; 2021 [cited 2022 May 30]. Available from: https://www.losante.com.tr/Blog/Detail/2217.
  • Zerres K, Rudnik-Schöneborn S, Forkert R, Wirth B. Genetic basis of adult-onset spinal muscular atrophy. Lancet. 1995;346(8983):1162.
  • Dubowitz V. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype. Eur J Paediatr Neurol. 1999;3(2):49-51.
  • Munsat TL, Davies KE. International SMA consortium meeting. Neuromuscul Disord. 1992;2(5-6):423-8.
  • Farrar MA, Park SB, Vucic S, Carey KA, Turner BJ, Gillingwater TH, et al. Emerging therapies and challenges in spinal muscular atrophy. Ann Neurol. 2017;81(3):355-68.
  • Dunaway S, Montes J, Ryan PA, Montgomery M, Sproule DM, De Vivo DC. Spinal muscular atrophy type III: trying to understand subtle functional change over time--a case report. J Child Neurol. 2012;27(6):779-85.
  • Finkel RS, McDermott MP, Kaufmann P, Darras BT, Chung WK, Sproule DM, et al. Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology. 2014;83(9):810-7.
  • 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.
  • Gathwala G, Silayach J, Bhakhari BK, Narwal V. Very severe spinal muscular atrophy: Type 0 with Dandy-Walker variant. J Pediatr Neurosci. 2014;9(1):55-6.
  • Singh A, Dalal P, Singh J, Tripathi P. Type 0 Spinal Muscular Atrophy in rare association with congenital contracture and generalized osteopenia. Iran J Child Neurol. 2018;12(1):105-8.
  • Vaidla E, Talvik I, Kulla A, Sibul H, Maasalu K, Metsvaht T, et al. Neonatal spinal muscular atrophy type 1 with bone fractures and heart defect. J Child Neurol. 2007;22(1):67-70.
  • Prior TW, Leach ME, Finanger E. Spinal Muscular Atrophy. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews. Seattle (WA): University of Washington; 2022. p. 1-25.
  • Kolb SJ, Kissel JT. Spinal Muscular Atrophy. Neurol Clin. 2015;33(4):831-46.
  • Grotto S, Cuisset JM, Marret S, Drunat S, Faure P, Audebert- Bellanger S, et al. Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients. J Neuromuscul Dis. 2016;3(4):487-95.
  • Rodríguez JI, Garcia-Alix A, Palacios J, Paniagua R. Changes in the long bones due to fetal immobility caused by neuromuscular disease. A radiographic and histological study. J Bone Joint Surg Am. 1988;70(7):1052-60.
  • Markowitz JA, Singh P, Darras BT. Spinal muscular atrophy: a clinical and research update. Pediatr Neurol. 2012;46(1):1-12.
  • Reilly A, Chehade L, Kothary R. Curing SMA: Are we there yet? Gene Ther. 2022:1-10.
  • Russman BS. Spinal muscular atrophy: clinical classification and disease heterogeneity. J Child Neurol. 2007;22(8):946-51.
  • De Sanctis R, Coratti G, Pasternak A, Montes J, Pane M, Mazzone ES, et al. Developmental milestones in type I spinal muscular atrophy. Neuromuscul Disord. 2016;26(11):754-9.
  • Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027-49.
  • signsofsma.com [Internet]. Switzerland: Look Out For Early Signs Of Spinal Muscular Atrophy (SMA); 2020 [cited 2022 Jun 28]. Available from: https://www.signsofsma.com/spinal-muscular-atrophy-baby-milestones.
  • Darras BT, Markowitz AJ, Monani UR, Vivo DCD. Spinal Muscular Atrophies. In: Darras BT, Jones J HR, Ryan MM, Vivo DCD, editors. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. Oxford: Elsevier; 2015. p.117-45.
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There are 77 citations in total.

Details

Primary Language Turkish
Subjects Health Care Administration
Journal Section Derlemeler
Authors

Senemhan Yılmaz 0000-0002-3637-3293

Bedriye Tuğba Karaaslan 0000-0001-8512-8908

Gözde Akoğlu 0000-0002-3685-4310

Early Pub Date September 29, 2022
Publication Date September 30, 2022
Submission Date June 29, 2022
Published in Issue Year 2022 Volume: 7 Issue: 3

Cite

APA Yılmaz, S., Karaaslan, B. T., & Akoğlu, G. (2022). Gelişimsel Bakış Açısıyla Spinal Musküler Atrofi’de Çocuğun Sağlık Hakkı ve Yaşam Kalitesi. İzmir Katip Çelebi Üniversitesi Sağlık Bilimleri Fakültesi Dergisi, 7(3), 629-635.
AMA Yılmaz S, Karaaslan BT, Akoğlu G. Gelişimsel Bakış Açısıyla Spinal Musküler Atrofi’de Çocuğun Sağlık Hakkı ve Yaşam Kalitesi. İKÇÜSBFD. September 2022;7(3):629-635.
Chicago Yılmaz, Senemhan, Bedriye Tuğba Karaaslan, and Gözde Akoğlu. “Gelişimsel Bakış Açısıyla Spinal Musküler Atrofi’de Çocuğun Sağlık Hakkı Ve Yaşam Kalitesi”. İzmir Katip Çelebi Üniversitesi Sağlık Bilimleri Fakültesi Dergisi 7, no. 3 (September 2022): 629-35.
EndNote Yılmaz S, Karaaslan BT, Akoğlu G (September 1, 2022) Gelişimsel Bakış Açısıyla Spinal Musküler Atrofi’de Çocuğun Sağlık Hakkı ve Yaşam Kalitesi. İzmir Katip Çelebi Üniversitesi Sağlık Bilimleri Fakültesi Dergisi 7 3 629–635.
IEEE S. Yılmaz, B. T. Karaaslan, and G. Akoğlu, “Gelişimsel Bakış Açısıyla Spinal Musküler Atrofi’de Çocuğun Sağlık Hakkı ve Yaşam Kalitesi”, İKÇÜSBFD, vol. 7, no. 3, pp. 629–635, 2022.
ISNAD Yılmaz, Senemhan et al. “Gelişimsel Bakış Açısıyla Spinal Musküler Atrofi’de Çocuğun Sağlık Hakkı Ve Yaşam Kalitesi”. İzmir Katip Çelebi Üniversitesi Sağlık Bilimleri Fakültesi Dergisi 7/3 (September 2022), 629-635.
JAMA Yılmaz S, Karaaslan BT, Akoğlu G. Gelişimsel Bakış Açısıyla Spinal Musküler Atrofi’de Çocuğun Sağlık Hakkı ve Yaşam Kalitesi. İKÇÜSBFD. 2022;7:629–635.
MLA Yılmaz, Senemhan et al. “Gelişimsel Bakış Açısıyla Spinal Musküler Atrofi’de Çocuğun Sağlık Hakkı Ve Yaşam Kalitesi”. İzmir Katip Çelebi Üniversitesi Sağlık Bilimleri Fakültesi Dergisi, vol. 7, no. 3, 2022, pp. 629-35.
Vancouver Yılmaz S, Karaaslan BT, Akoğlu G. Gelişimsel Bakış Açısıyla Spinal Musküler Atrofi’de Çocuğun Sağlık Hakkı ve Yaşam Kalitesi. İKÇÜSBFD. 2022;7(3):629-35.
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