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

Öz

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.

Anahtar Kelimeler

• Spinal musküler atrofi
• çocuk gelişimi
• sağlık hakkı
• yaşam kalitesi

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

Öz

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.

Anahtar Kelimeler

• Spinal Muscular Atrophy
• child development
• right to health
• quality of life

Kaynakça

1. Kolb SJ, Kissel JT. Spinal muscular atrophy: a timely review. Arch Neurol. 2011;68(8):979-84.
2. 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.
3. Darras BT. Spinal muscular atrophies. Pediatr Clin North Am. 2015;62(3):743-66.
4. 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.
5. Pearn J. Classification of spinal muscular atrophies. Lancet. 1980;1(8174):919-22.
6. Lunn MR, Wang CH. Spinal muscular atrophy. Lancet. 2008;371(9630):2120-33.
7. Ogino S, Wilson RB. Genetic testing and risk assessment for spinal muscular atrophy (SMA). Hum Genet. 2002;111(6):477-500.
8. smabenimleyuru.org.tr [Internet]. İstanbul: SMA Nedir? [cited 2022 May 30]. Available from: https://smabenimleyuru.org.tr/sma-nedir/.

9. 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.
10. Messina S. New directions for SMA therapy. J Clin Med. 2018;7(9):251.
11. 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.
12. 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.
13. 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.
14. losante.com.tr [Internet]. Ankara: SMA hastalığı; 2021 [cited 2022 May 30]. Available from: https://www.losante.com.tr/Blog/Detail/2217.
15. Zerres K, Rudnik-Schöneborn S, Forkert R, Wirth B. Genetic basis of adult-onset spinal muscular atrophy. Lancet. 1995;346(8983):1162.
16. Dubowitz V. Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype. Eur J Paediatr Neurol. 1999;3(2):49-51.
17. Munsat TL, Davies KE. International SMA consortium meeting. Neuromuscul Disord. 1992;2(5-6):423-8.
18. 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.
19. 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.
20. 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.
21. 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.
22. 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.
23. 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.
24. 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.
25. 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.
26. Kolb SJ, Kissel JT. Spinal Muscular Atrophy. Neurol Clin. 2015;33(4):831-46.
27. 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.
28. 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.
29. Markowitz JA, Singh P, Darras BT. Spinal muscular atrophy: a clinical and research update. Pediatr Neurol. 2012;46(1):1-12.
30. Reilly A, Chehade L, Kothary R. Curing SMA: Are we there yet? Gene Ther. 2022:1-10.
31. Russman BS. Spinal muscular atrophy: clinical classification and disease heterogeneity. J Child Neurol. 2007;22(8):946-51.
32. 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.
33. 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.
34. 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.
35. 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.
36. Yamadera M, Saito T, Shinohara M, Nishio H, Murayama S, Fujimura H. Spinal muscular atrophy type 2 patient who survived 61 years: an autopsy case report. Neuropathology. 2022;42(2):141-6.
37. Chung BH, Wong VC, Ip P. Spinal muscular atrophy: survival pattern and functional status. Pediatrics. 2004;114(5):e548-53.
38. Oskoui M, Darras BT, De Vivo DC. Spinal Muscular Atrophy: 125 Years Later and on the Verge of a Cure. In: Sumner CJ, Paushkin S, Ko C-P, editors. Spinal Muscular Atrophy. Academic Press; 2017. p. 3-19.
39. who.int [Internet]. Switzerland: Human Rights And Health; 2017 [cited 2022 May 20]. Available from: https://www.who.int/news-room/ fact-sheets/detail/human-rights-and-health.
40. UNTC. Convention on the tights of the child. New York; 1989 [cited 2022 Jun 18]. Available from: https://web.archive.org/ web/20140211151110/http://treaties.un.org/Pages/ViewDetails. aspx?src=TREATY&mtdsg_no=IV-11&chapter=4&lang=en.
41. T.C. Resmî Gazete. Yürütme ve İdare Bölümü: Milletlerarası Sözleşme. Ankara; 1995 [cited 2022 Jun 11]. Available from: https:// www.resmigazete.gov.tr/arsiv/22199.pdf.
42. T. C. Resmi Gazete. 2003/5923 Ekonomik, Sosyal ve Kültürel Haklara İlişkin Uluslararası Sözleşme’nin Onaylanması Hakkında Karar. Ankara; 2003 [cited 2022 Jun 18]. Available from: https://www.resmigazete.gov. tr/eskiler/2003/08/20030811.htm#4.
43. who.int [Internet]. Switzerland: Sağlık ve İnsan Hakları Üzerine 25 Soru 25 Cevap; 2007 [cited 2022 Jun 4]. Available from: https:// apps.who.int/iris/bitstream/handle/10665/42526/9241545690_tur. pdf?sequence=10.
44. T.C. Sağlık Bakanlığı Halk Sağlığı Genel Müdürlüğü. Spinal Musküler Atrofi Taşıyıcı Tarama Programı Saha Rehberi. Ankara; 2021 [cited 2022 Jun 6]. Available from: https://hsgm.saglik.gov.tr/depo/birimler/ cocuk_ergen_db/dokumanlar/SMA_Tasiyici_Tarama_Saha_Rehberi. pdf.
45. sagligim.gov.tr [Internet]. Evlilik Öncesi Spinal Musküler Atrofi (SMA) Taşıyıcı Tarama Programı; 2019 [cited 2022 Jun 9]. Available from: https://sagligim.gov.tr/kadin-sagligi/gebeligi-onleyici-yontemler/ kadina-ait-yontemler/337-saglikli-hayat2/kadın-sağlığı/kadın-sağlığı-nedir/1215-evlilik-oncesi-spinal-muskuler-atrofi-sma-tasiyici-tarama-programi.html.
46. Chien YH, Chiang SC, Weng WC, Lee NC, Lin CJ, Hsieh WS, et al. Presymptomatic diagnosis of spinal muscular atrophy through newborn screening. J Pediatr. 2017;190:124-9.
47. Kraszewski JN, Kay DM, Stevens CF, Koval C, Haser B, Ortiz V, et al. Pilot study of population-based newborn screening for spinal muscular atrophy in New York state. Genet Med. 2018;20(6):608-13. saglik.gov.tr. [Internet]. Ankara: Yenidoğan Metabolik ve Endokrin Hastalık Tarama Programı (NTP) [cited 2022 Aug 11]. Available from: https://hsgm.saglik.gov.tr/tr/cocukergen-tp-liste/yenidogan_tarama_ programi.html.
48. T. C. Resmi Gazete. Nöromusküler Hastalıklar Birimi Hakkında Yönetmelik. Ankara; 2021 [cited 2022 Jun 6]. Available from: https:// www.resmigazete.gov.tr/eskiler/2021/06/20210604-5.htm.
49. T. C. Resmi Gazete. Sosyal Güvenlik Kurumu (SGK) Sağlık Uygulama Tebliğinde Değişiklik Yapılmasına Dair Tebliğ (Sayı: 31744). Ankara; 2022 [cited 2022 Jun 6]. Available from: https://www.resmigazete.gov.tr/ eskiler/2022/02/20220208M1-1.pdf.
50. sma.org.tr [Internet]. Eskişehir: Spinraza [cited 2022 Jun 4]. Available from: https://www.sma.org.tr/tedavi/1/spinraza.
51. sma.org.tr [Internet]. Eskişehir: Zolgensma [cited 2022 Jun 4]. Available from: https://www.sma.org.tr/tedavi/5/zolgensma.
52. Wertheimer AI. The world’s priciest medicine. Journal of Pharmaceutical Health Services Research. 2019;10(3):269-70.
53. Broekhoff TF, Sweegers CCG, Krijkamp EM, Mantel-Teeuwisse AK, Leufkens HGM, Goettsch WG, et al. Early Cost-Effectiveness of Onasemnogene Abeparvovec-xioi (Zolgensma) and Nusinersen (Spinraza) Treatment for Spinal Muscular Atrophy I in The Netherlands With Relapse Scenarios. Value Health. 2021;24(6):759-69.
54. Saracaloğlu A, Demiryürek AT. Spinal musküler atrofi (SMA) tedavisinde yeni yaklaşımlar ve onaylı ilaçlar. J Curr Pediatr. 2021;19:248-58.
55. de Negri Filho A. A human rights approach to quality of life and health: applications to public health programming. Health Hum Rights. 2008;10(1):93-101.
56. Aydıner-Boylu A, Paçacıoğlu B. Yaşam kalitesi ve göstergeleri. Akademik Araştırmalar ve Çalışmalar Dergisi. 2016;8(15):137-50.
57. Akgün-Kostak M, Çetintaş İ. Spinal müsküler atrofisi olan çocuk ve ailesinin hemşirelik bakımı. Dokuz Eylül Üniversitesi Hemşirelik Fakültesi Elektronik Dergisi. 2022;15(1): 99-107.
58. Dünya Sağlık Örgütü [WHO]. The World Health Organization Quality of Life (WHOQOL). Switzerland; 2012. Available from: https://www.who. int/tools/whoqol.
59. Maslow AH. A Theory of Human Motivation. USA: Dancing Unicorn Books; 2017. 370-96 p.
60. Young HK, Lowe A, Fitzgerald DA, Seton C, Waters KA, Kenny E, et al. Outcome of noninvasive ventilation in children with neuromuscular disease. Neurology. 2007;68(3):198-201.
61. cdc.gov [Internet]. Atlanta: Health-Related Quality of Life (HRQOL) [cited 2022 Jun 4]. Available from: https://www.cdc.gov/hrqol/index.html.
62. Hays RD, Reeve BB. Measurement and modeling of health-related quality of life. In: Heggenhougen K, Quah S, editors. International encyclopedia of public health. San Diego: Academic Press; 2008. p. 241- 52.
63. 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.
64. López-Bastida J, Peña-Longobardo LM, Aranda-Reneo I, Tizzano E, Sefton M, Oliva-Moreno J. Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain. Orphanet J Rare Dis. 2017;12(1):141.
65. Klug C, Schreiber-Katz O, Thiele S, Schorling E, Zowe J, Reilich P, et al. Disease burden of spinal muscular atrophy in Germany. Orphanet J Rare Dis. 2016;11(1):58.
66. Higgs EJ, McClaren BJ, Sahhar MA, Ryan MM, Forbes R. ‘A short time but a lovely little short time’: Bereaved parents’ experiences of having a child with spinal muscular atrophy type 1. J Paediatr Child Health. 2016;52(1):40-6.
67. Agosto C, Salamon E, Giacomelli L, Papa S, Benedetti F, Benini F. Effect of the COVID-19 Pandemic on children with SMA receiving Nusinersen: What is missed and what is gained? Front Neurol. 2021;12:704928.
68. Spurr L, Tan HL, Wakeman R, Chatwin M, Hughes Z, Simonds A. Psychosocial impact of the COVID-19 pandemic and shielding in adults and children with early-onset neuromuscular and neurological disorders and their families: a mixed-methods study. BMJ Open. 2022;12(3):e055430.
69. Wallander JL, Koot HM. Quality of life in children: A critical examination of concepts, approaches, issues, and future directions. Clin Psychol Rev. 2016;45:131-43.
70. DeWitt TG, Halfon N. Role of the Pediatrician. In: Rudolph CD, First L, Rudolph AM, Lister GE, Gershon AA, editors. Rudolph’s Pediatrics. McGraw Hill; 2011. p. 1-2.
71. Muslu M. Spinal musküler atrofi (SMA) ve tıbbi beslenme tedavisi. İstanbul Üniversitesi Sağlık Bilimleri Enstitüsü Sağlık Bilimlerinde İleri Araştırmalar Dergisi. 2021;4(3):131-40.
72. Basak RB, Momaya R, Guo J, Rathi P. Role of child life specialists in pediatric palliative care. J Pain Symptom Manage. 2019;58(4):735-7.
73. Er DM. Çocuk, hastalık, anne-babalar ve kardeşler. Çocuk Sağlığı ve Hastalıkları Dergisi. 2006;49:155-68.
74. T. C. Aile-Çalışma ve Sosyal Hizmetler Bakanlığı. Çocuk Destek, Gelişim ve Eğitim Programı: Psikososyal Destek Modülü. Ankara; 2020 [cited 2022 Jun 11]. Available from: https://www.aile.gov.tr/ media/91635/psikososyol-destek-kitabi.pdf.
75. Hamlet HS, Herrick MA. Who’s on first: Professional collaboration and children with chronic illness. Alexandria: American Counseling Association: 2011;1-11.
76. Darke J, Bushby K, Le Couteur A, McConachie H. Survey of behaviour problems in children with neuromuscular diseases. Eur J Paediatr Neurol. 2006;10(3):129-34.
77. Laufersweiler-Plass C, Rudnik-Schöneborn S, Zerres K, Backes M, Lehmkuhl G, von Gontard A. Behavioural problems in children and adolescents with spinal muscular atrophy and their siblings. Dev Med Child Neurol. 2003;45(1):44-9.