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Spinal Müsküler Atrofisi Olan Çocuk ve Ailesinin Hemşirelik Bakımı

Yıl 2022, Cilt: 15 Sayı: 1, 99 - 107, 15.01.2022
https://doi.org/10.46483/deuhfed.982436

Öz

Spinal müsküler atrofi (SMA), sıklıkla otozomal resesif geçişli ilerleyici dejenerasyon ile seyreden nöromusküler kalıtımsal bir hastalıktır. Erken bebek ölümlerinin en yaygın genetik nedeni olan SMA dünyada yaklaşık 6.000-10.000 canlı doğumda bir görülürken, ülkemizde insidansı yaklaşık 1/6.000 canlı doğumdur. SMA’da omuriliğin ön boynuz hücrelerinde alfa motor nöronların dejenerasyonu istemli kasları etkileyerek proksimal simetrik güçsüzlüğe, ekstremitelerde ve gövdede atrofiye neden olur. Dört klinik tipi olan SMA’da yaşam kalitesi tipe göre farklı olmakla birlikte sık görülen Tip 1 ve Tip II formunda ileri dejenerasyona bağlı kas atrofileri nedeniyle çocuklar tam bağımlı hale gelirler. Dünyada ve ülkemizde SMA tedavisi için bazı ilaçlar kullanılmasına karşın hastalığın henüz tam iyileşme sağlayan bir tedavisi yoktur. Bu nedenle SMA’lı çocuk ve ailenin/ebeveynlerin çocuklarının bakımı konusunda desteklenmeleri, çocuklarının bakım gereksinimleri konusunda eğitilmeleri önemlidir. SMA’lı çocuk ve ailesinin bakımında hemşireler önemli bir role sahiptir. Yapılan literatür taramasında ülkemizde SMA tedavi ve bakımı ile ilgili yayınların çok sınırlı olduğu görülmektedir. Bu derlemede, ülkemizde son yıllarda güncel bir sorun olarak karşımıza çıkan SMA hastalığı, tedavisi ve hemşirelik bakımı ele alınmıştır. 

Kaynakça

  • 1. Hockenbery MJ, Wilson D. Essentials of pediatric nursing. 8th ed. United States of Amerika: Mosby Elsevier, 2009.
  • 2. Sugarman EA, Nagan N, Zhu H, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens. Eur J Hum Genet. 2012;20(1):27–32.
  • 3. Ramdas S, Servais L. New treatments in spinal muscular atrophy: an overview of currently available data. Expert Opinion on Pharmacotherapy 2020;21(3):307-315.
  • 4. Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 2007;22:1027e49.
  • 5. Canpolat M, Bayram AK, Bahadır O, Hüseyin Per, Gümüş H, Dundar M, Kumandaş S. Spinal musküler atrofi olgularının klinik özellikleri. Güncel Pediatri 2016;14(1):18-22.
  • 6. SMA Foundation. Spinal Müsküler Atrofi (SMA) [online]. URL: https://smafoundation.org/about-sma/ 3 Mart 2021
  • 7. Küçük A, Yüce HH, Aydoğan H, Karahan MA, Altay N. Spinal müsküler atrofili pediatrik hastada anestezik yaklaşım. Pamukkale Tıp Dergisi 2016;(1):57-61.
  • 8. Alsaman AS, AlShaikh NM. Type III spinal muscular atrophy mimicking muscular dystrophies. Pediatric Neurology 2013;48(5):363-366
  • 9. Su YN, Hung CC, Lin SY, Chen FY, Chern JPS, Tsai C ve ark. Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005–2009: a prospective population‐based cohort study. PLoS One 2011;6 (2):e17067.
  • 10. Gitlin JM, Fischbeck K, Crawford TO, Cwik V, Fleischman A, Gonye K, et al. Carrier testing for spinal muscular atrophy. Genet Med 2010;12(10):621‐2.
  • 11. Verhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC ve ark. Prevalence, incidence and carrier frequency of 5q‐linked spinal muscular atrophy—a literature review. Orphanet J Rare Dis 2017;12(1):124
  • 12. Bora E. Spinal Muskuler Atrofili Olgularda Survival Motor Neuron Gen 1 (SMN1) Delesyon Sıklığı. Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi 2007;21(2):71-74.
  • 13. Essawi ML, Al-Attribi GM, Gaber KR, El-Harouni AA. Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs). Gene 2012;509(1):120-123.
  • 14. Shawky RM, El-Awady MY, El-Sayed SM, Hamdan GM. Consanguineous mating among Egyptian population. Egypt. J. Med. Hum. Genet 2011;12:157–163.
  • 15. Çankaya T. Spinal Musküler Atrofi İçin Prenatal Tanı. Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi 2010;24(2):65-68.
  • 16. Tuncbilek E. Clinical outcomes of consanguineous marriages in Turkey. The Turkish Journal of Pediatrics 2001;43(4):277-279.
  • 17. Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L ve ark. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80(1):155–165
  • 18. Sel SK, Kasap H, Filiz Koç, Güzel Aİ. Spinal müsküler atrofi ve moleküler genetiği. Arşiv Kaynak Tarama Dergisi 2012;21(1):1-26.
  • 19. Dubowitz V. Ramblings in the history of spinal muscular atrophy. Neuromuscul Disord 2009;19(1):69–73
  • 20. Faravelli I. Spinal muscular atrophy—recent therapeutic advances for an old challenge. Nat Rev Neurol 2015;11(6):351‐9.
  • 21. DiVito D, Konek S. Spinal Muscular Atrophy—Summary for Nutritional Care: The Consensus Statement for Standard of Care in Spinal Muscular Atrophy. ICAN: Infant, Child, & Adolescent Nutrition 2010;2(6):348-354.
  • 22. Piepers S, van den Berg LH, Brugman F, Scheffer H, Ruiterkamp‐Versteeg M, van Engelen BG ve ark. A natural history study of late onset spinal muscular atrophy types 3b and 4. J Neurol 2008;255(9):1400‐4.
  • 23. Palladino A, Passamano L, Taglia A, D'Ambrosio P, Scutifero M, Cecio MR et al. Cardiac involvement in patients with spinal muscular atrophies. Acta Myologica 2011;30 (3):175-178.
  • 24. Muqit MM, Moss J, Sewry C, Lane RJ. Phenotypic variability in siblings with type III spinal muscular atrophy. J Neurol Neurosurg Psychiatry 2004;75(12):1762–4.
  • 25. Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M ve ark. Diagnosis and management of spinal muscular atrophy: Part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disorders 2018;28(2):103-115.
  • 26. İstanbul Üniversitesi, İstanbul Tıp Fakültesi Nöroloji Anabilim Dalı.Nöroloji E-Ders Kitabı. Spinal Müsküler Atrofi. [online]. 10 Mart 2021
  • 27. Wilson D. The Child with Neuromuscular or Muscular Dysfunction. In: Hockenbery MJ, Wilson D. (Eds). Wong’s nursing care of ınfants and children. 9th ed. United States of Amerika: Elsevier Mosby, 2011:p.1703-1705.
  • 28. Lavie M, Diamant N, Cahal M, Sadot E, Be'er M, Fattal‐Valevski, A ve ark. Nusinersen for spinal muscular atrophy type 1: Real‐world respiratory experience. Pediatric Pulmonology 2021;56(1):291-298.
  • 29. SMA Hastalığı İle Mücadele Derneği. SMA Tedavisi [online]. URL: https://www.sma.org.tr/tedavi/1/spinraza 10 Mart 2021
  • 30. SMA Benimle Yürü Derneği. SMA Araştırmaları ve Tedavisi. [online]. URL: https://smabenimleyuru.org.tr/arastirmalar-ve-tedavi/spinraza/ 10 Mart 2021
  • 31. SMA Benimle Yürü Derneği. SMA Araştırmaları ve Tedavisi. [online]. https://smabenimleyuru.org.tr/arastirmalar-ve-tedavi/zolgensma/ 10 Mart 2021
  • 32. SMA Hastalığı İle Mücadele Derneği. SMA Tedavisi [online]. URL: https://www.sma.org.tr/tedavi/7/risdiplam 10 Mart 2021
  • 33. SMA Benimle Yürü Derneği. SMA Araştırmaları ve Tedavisi [online]. URL: https://smabenimleyuru.org.tr/arastirmalar-ve-tedavi/risdiplam/ 10 Mart 2021
  • 34. Baranello G, Darras BT, Day JW, Deconinck N, Klein A, Masson R ve ark. Risdiplam in Type 1 Spinal Muscular Atrophy. New England Journal of Medicine 2021;384(10):915-923.
  • 35. Hjorth E, Kreicbergs U, Sejersen T, Lövgren M. Parents' advice to healthcare professionals working with children who have spinal muscular atrophy. European Journal of Paediatric Neurology 2018;22(1):128-134.
  • 36. Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham, RJ ve ark. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscular Disorders 2018;28(3):197-207.
  • 37. Rul B, Carnevale F, Estournet B, Rudler M, Hervé C. Tracheotomy and children with spinal muscular atrophy type 1: ethical considerations in the French context. Nursing Ethics 2012;19(3):408-418.
  • 38. Kingston RL. Home care of the ventilator dependent child. Home Health Care Management & Practice 2007;19(6):436-441.
  • 39. The Guide to the 2017 International Standards of Care for SMA [online]. URL: https://treat-nmd.org/care-overview/2017-standards-of-care-for-spinal-muscular-atrophy-sma/the-guide-to-the-2017-international-standards-of-care-for-sma/ Erişim tarihi: 17 Nisan 2021

Nursing Care of the Child with Spinal Muscular Atrophy and Their Family

Yıl 2022, Cilt: 15 Sayı: 1, 99 - 107, 15.01.2022
https://doi.org/10.46483/deuhfed.982436

Öz

Spinal muscular atrophy (SMA) is a neuromuscular inherited disease that often progresses with autosomal recessive progressive degeneration. SMA is the most common genetic cause of premature infant death. While it is seen in approximately one in 6.000-10.000 live births in the world, its incidence is approximately 1/6.000 live births in our country. In SMA, degeneration of alpha motor neurons in the anterior horn cells of the spinal cord affects the voluntary muscles, causing proximal symmetric weakness and atrophy of the extremities and body. Although the quality of life in SMA, which has four clinical types, differs according to the type, children become fully dependent due to muscle atrophy due to advanced degeneration in Type 1 and Type II forms, which are common. Although some drugs are used for the treatment of SMA in the world and our country, there is no cure for the disease yet. For this reason, it is important that children with SMA and their families/parents are supported in the care of their children and that they are educated about their children's care needs. Nurses have an important role in the care of children with SMA and their families. In the literature review, it is seen that the publications on SMA treatment and care are very limited in our country. SMA has emerged as a current problem in our country in recent years. In this review, SMA disease, its treatment and nursing care are discussed.

Kaynakça

  • 1. Hockenbery MJ, Wilson D. Essentials of pediatric nursing. 8th ed. United States of Amerika: Mosby Elsevier, 2009.
  • 2. Sugarman EA, Nagan N, Zhu H, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens. Eur J Hum Genet. 2012;20(1):27–32.
  • 3. Ramdas S, Servais L. New treatments in spinal muscular atrophy: an overview of currently available data. Expert Opinion on Pharmacotherapy 2020;21(3):307-315.
  • 4. Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol 2007;22:1027e49.
  • 5. Canpolat M, Bayram AK, Bahadır O, Hüseyin Per, Gümüş H, Dundar M, Kumandaş S. Spinal musküler atrofi olgularının klinik özellikleri. Güncel Pediatri 2016;14(1):18-22.
  • 6. SMA Foundation. Spinal Müsküler Atrofi (SMA) [online]. URL: https://smafoundation.org/about-sma/ 3 Mart 2021
  • 7. Küçük A, Yüce HH, Aydoğan H, Karahan MA, Altay N. Spinal müsküler atrofili pediatrik hastada anestezik yaklaşım. Pamukkale Tıp Dergisi 2016;(1):57-61.
  • 8. Alsaman AS, AlShaikh NM. Type III spinal muscular atrophy mimicking muscular dystrophies. Pediatric Neurology 2013;48(5):363-366
  • 9. Su YN, Hung CC, Lin SY, Chen FY, Chern JPS, Tsai C ve ark. Carrier screening for spinal muscular atrophy (SMA) in 107,611 pregnant women during the period 2005–2009: a prospective population‐based cohort study. PLoS One 2011;6 (2):e17067.
  • 10. Gitlin JM, Fischbeck K, Crawford TO, Cwik V, Fleischman A, Gonye K, et al. Carrier testing for spinal muscular atrophy. Genet Med 2010;12(10):621‐2.
  • 11. Verhaart IEC, Robertson A, Wilson IJ, Aartsma-Rus A, Cameron S, Jones CC ve ark. Prevalence, incidence and carrier frequency of 5q‐linked spinal muscular atrophy—a literature review. Orphanet J Rare Dis 2017;12(1):124
  • 12. Bora E. Spinal Muskuler Atrofili Olgularda Survival Motor Neuron Gen 1 (SMN1) Delesyon Sıklığı. Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi 2007;21(2):71-74.
  • 13. Essawi ML, Al-Attribi GM, Gaber KR, El-Harouni AA. Molecular prenatal diagnosis of autosomal recessive childhood spinal muscular atrophies (SMAs). Gene 2012;509(1):120-123.
  • 14. Shawky RM, El-Awady MY, El-Sayed SM, Hamdan GM. Consanguineous mating among Egyptian population. Egypt. J. Med. Hum. Genet 2011;12:157–163.
  • 15. Çankaya T. Spinal Musküler Atrofi İçin Prenatal Tanı. Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi 2010;24(2):65-68.
  • 16. Tuncbilek E. Clinical outcomes of consanguineous marriages in Turkey. The Turkish Journal of Pediatrics 2001;43(4):277-279.
  • 17. Lefebvre S, Bürglen L, Reboullet S, Clermont O, Burlet P, Viollet L ve ark. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995;80(1):155–165
  • 18. Sel SK, Kasap H, Filiz Koç, Güzel Aİ. Spinal müsküler atrofi ve moleküler genetiği. Arşiv Kaynak Tarama Dergisi 2012;21(1):1-26.
  • 19. Dubowitz V. Ramblings in the history of spinal muscular atrophy. Neuromuscul Disord 2009;19(1):69–73
  • 20. Faravelli I. Spinal muscular atrophy—recent therapeutic advances for an old challenge. Nat Rev Neurol 2015;11(6):351‐9.
  • 21. DiVito D, Konek S. Spinal Muscular Atrophy—Summary for Nutritional Care: The Consensus Statement for Standard of Care in Spinal Muscular Atrophy. ICAN: Infant, Child, & Adolescent Nutrition 2010;2(6):348-354.
  • 22. Piepers S, van den Berg LH, Brugman F, Scheffer H, Ruiterkamp‐Versteeg M, van Engelen BG ve ark. A natural history study of late onset spinal muscular atrophy types 3b and 4. J Neurol 2008;255(9):1400‐4.
  • 23. Palladino A, Passamano L, Taglia A, D'Ambrosio P, Scutifero M, Cecio MR et al. Cardiac involvement in patients with spinal muscular atrophies. Acta Myologica 2011;30 (3):175-178.
  • 24. Muqit MM, Moss J, Sewry C, Lane RJ. Phenotypic variability in siblings with type III spinal muscular atrophy. J Neurol Neurosurg Psychiatry 2004;75(12):1762–4.
  • 25. Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M ve ark. Diagnosis and management of spinal muscular atrophy: Part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscular Disorders 2018;28(2):103-115.
  • 26. İstanbul Üniversitesi, İstanbul Tıp Fakültesi Nöroloji Anabilim Dalı.Nöroloji E-Ders Kitabı. Spinal Müsküler Atrofi. [online]. 10 Mart 2021
  • 27. Wilson D. The Child with Neuromuscular or Muscular Dysfunction. In: Hockenbery MJ, Wilson D. (Eds). Wong’s nursing care of ınfants and children. 9th ed. United States of Amerika: Elsevier Mosby, 2011:p.1703-1705.
  • 28. Lavie M, Diamant N, Cahal M, Sadot E, Be'er M, Fattal‐Valevski, A ve ark. Nusinersen for spinal muscular atrophy type 1: Real‐world respiratory experience. Pediatric Pulmonology 2021;56(1):291-298.
  • 29. SMA Hastalığı İle Mücadele Derneği. SMA Tedavisi [online]. URL: https://www.sma.org.tr/tedavi/1/spinraza 10 Mart 2021
  • 30. SMA Benimle Yürü Derneği. SMA Araştırmaları ve Tedavisi. [online]. URL: https://smabenimleyuru.org.tr/arastirmalar-ve-tedavi/spinraza/ 10 Mart 2021
  • 31. SMA Benimle Yürü Derneği. SMA Araştırmaları ve Tedavisi. [online]. https://smabenimleyuru.org.tr/arastirmalar-ve-tedavi/zolgensma/ 10 Mart 2021
  • 32. SMA Hastalığı İle Mücadele Derneği. SMA Tedavisi [online]. URL: https://www.sma.org.tr/tedavi/7/risdiplam 10 Mart 2021
  • 33. SMA Benimle Yürü Derneği. SMA Araştırmaları ve Tedavisi [online]. URL: https://smabenimleyuru.org.tr/arastirmalar-ve-tedavi/risdiplam/ 10 Mart 2021
  • 34. Baranello G, Darras BT, Day JW, Deconinck N, Klein A, Masson R ve ark. Risdiplam in Type 1 Spinal Muscular Atrophy. New England Journal of Medicine 2021;384(10):915-923.
  • 35. Hjorth E, Kreicbergs U, Sejersen T, Lövgren M. Parents' advice to healthcare professionals working with children who have spinal muscular atrophy. European Journal of Paediatric Neurology 2018;22(1):128-134.
  • 36. Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham, RJ ve ark. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscular Disorders 2018;28(3):197-207.
  • 37. Rul B, Carnevale F, Estournet B, Rudler M, Hervé C. Tracheotomy and children with spinal muscular atrophy type 1: ethical considerations in the French context. Nursing Ethics 2012;19(3):408-418.
  • 38. Kingston RL. Home care of the ventilator dependent child. Home Health Care Management & Practice 2007;19(6):436-441.
  • 39. The Guide to the 2017 International Standards of Care for SMA [online]. URL: https://treat-nmd.org/care-overview/2017-standards-of-care-for-spinal-muscular-atrophy-sma/the-guide-to-the-2017-international-standards-of-care-for-sma/ Erişim tarihi: 17 Nisan 2021
Toplam 39 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Hemşirelik
Bölüm Derleme
Yazarlar

Melahat Akgün Kostak 0000-0003-0507-9638

İsmail Çetintaş 0000-0002-9449-8801

Yayımlanma Tarihi 15 Ocak 2022
Yayımlandığı Sayı Yıl 2022 Cilt: 15 Sayı: 1

Kaynak Göster

APA Akgün Kostak, M., & Çetintaş, İ. (2022). Spinal Müsküler Atrofisi Olan Çocuk ve Ailesinin Hemşirelik Bakımı. Dokuz Eylül Üniversitesi Hemşirelik Fakültesi Elektronik Dergisi, 15(1), 99-107. https://doi.org/10.46483/deuhfed.982436

Dokuz Eylül Üniversitesi Hemşirelik Fakültesi Elektronik Dergisi ULAKBİM Türk Tıp Dizini, Türk Medline, Türkiye Atıf Dizini, Şubat 2021 tarihinden beri EBSCO Host ve 26 Ekim 2021 tarihinden itibaren DOAJ ve 18 Ocak 2022 tarihinden beri Index Copernicus tarafından indekslenmektedir.

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