NURSING APPROACH IN SPINAL MUSCULAR ATROPHY

Öz

Spinal muscular atrophy is an important genetic disease that affects motor neurons in the spine, causing muscle weakness, particularly in infancy. Spinal muscular atrophy occurs with a deletion of the survival motor neuron gene and is one of the leading causes of early death in infants. Although some drugs are used for the treatment of spinal muscular atrophy in the world and in Turkey, there is still no treatment method that provides complete recovery. The limited treatment options for spinal muscular atrophy, its inaccessibility and the poor prognosis of the disease negatively affect the quality of life of individuals and their families. All stages of the disease, starting from the diagnosis process, are very difficult for the patient and his family. A multidisciplinary approach is needed to help patients and their families cope with these difficulties. This approach includes areas such as medical care, rehabilitation, psychosocial support and education. It is essential that nurses, as key members of the health care team, improve the patient's quality of life, manage symptoms and support the individual and family in this process. In particular, supporting the patient and family in their care and educating them about their care needs is one of the most important roles of nurses. With this review, an attempt has been made to discuss the diagnostic methods, treatment process and nursing approaches of spinal muscular atrophy disease, which is a current problem in the world and in Turkey.

Anahtar Kelimeler

• Spinal Muscular Atrophy
• Genetics Diseases
• Nursing Care

SPİNAL MÜSKÜLER ATROFİ'DE HEMŞİRELİK YAKLAŞIMI

Öz

Spinal müsküler atrofi özellikle bebeklik döneminde spinal motor nöronlarını etkileyerek kas zayıflığına sebep olan önemli genetik geçişli bir hastalıktır. Spinal müsküler atrofi erken bebek ölümlerinin en yaygın sebeplerinden olan survival motor nöron geninin delesyonu ile ortaya çıkmaktadır. Dünyada ve Türkiye’de spinal müsküler atrofi hastalığının tedavisi için bazı ilaçlar kullanılmasına rağmen henüz tam iyileşme sağlayan bir tedavi yöntemi bulunmamaktadır. Spinal müsküler atrofide tedavi imkânlarının kısıtlı olması, erişilebilirliğinin az olması, hastalığın kötü bir prognoza sahip olması, bireylerin ve ailelerinin yaşam kalitelerini olumsuz yönde etkilemektedir. Tanı sürecinden itibaren hastalığın tüm aşamaları hasta ve ailesi için oldukça zordur. Hasta ve ailesinin bu zorluklarla başa çıkmak için multidisipliner bir yaklaşım gerekmektedir. Bu yaklaşım, tıbbi bakım, rehabilitasyon, psikososyal destek ve eğitim gibi alanları kapsamaktadır. Sağlık bakım ekibinin önemli bir üyesi olan hemşirelerin bu süreçte, hastanın yaşam kalitesini artırması, semptomları yönetmesi, birey ve ailesine destek sağlaması son derece önemlidir. Özellikle hasta ve ailenin bakım konusunda desteklenmesi ve bakım gereksinimi konusunda eğitilmeleri hemşirelerin en önemli rolleri arasında yer almaktadır. Bu derleme ile dünyada ve Türkiye’de güncel bir sorun olan spinal müsküler atrofi hastalığının tanı yöntemleri, tedavi süreci ve hemşirelik yaklaşımları ele alınmaya çalışılmıştır.

Anahtar Kelimeler

• Spinal Müsküler Atrofi
• Genetik Hastalıklar
• Hemşirelik Bakımı

Kaynakça

1. 1. Darras BT, Markowitz JA, Monani UR, De Vivo DC. Spinal Muscular Atrophies. Darras BT, Jones HR, Ryan MM, De Vivo DC. (Ed). Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. 2nd Ed. Elsevier; 2015 p. 117–45.
2. 2. Arnold ES, Fischbeck KH. Spinal Muscular Atrophy. Handbook of clinical neurology. 2018;148:591-601.
3. 3. Mercuri E, Finkel RS, Muntoni F, et al. Diagnosis and Management of Spinal Muscular Atrophy: Part 1: Recommendations for Diagnosis, Rehabilitation, Orthopedic and Nutritional Care. Neuromuscular Disorders. 2018;28(2):103-115.
4. 4. General Directorate of Public Health. Department of Child and Adolescent Health. 2023. https://hsgm.saglik.gov.tr/tr/tarama-programlari/evlilik-oncesi-sma-tasiyici-tarama-programi.html (Last Access Date: 06.06.2024)
5. 5. Başara SG, Çalışır H. Evaluation of a Child Patient with Spinal Muscular Atrophy According to Henderson Nursing Model. Journal of Adnan Menderes University Health Sciences Faculty. 2022;6(2):345-353.
6. 6. Korkmaz N, Şahin K, Balcı S. Nursing Care of the Child with Spinal Muscular Atrophy. Journal of Health Science Yuksek Ihtisas University. 2023;4(2):63-68.
7. 7. Canpolat M, Bayram AK, Bahadır O, Hüseyin Per, Gümüş H, Dundar M, Kumandaş S Clinical Characteristics of Cases with Spinal Muscular Atrophy. The Journal of Current Pediatrics. 2016;14(1):18-22.
8. 8. Kostak MA, Çetintaş İ. Nursing Care of the Child with Spinal Muscular Atrophy and Their Family. DEUHFED. 2022;15(1):99-107.

9. 9. 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.
10. 10. Yücel Z, Yüksel EB. Spinal Muscular Atrophy: Current Advances in Diagnosis, Screening and Treatment. Journal of General Health Sciences. 2023;5(2):275-287.
11. 11. Saracaloğlu A, Demiryürek AT. New Approaches and Approved Drugs in Spinal Muscular Atrophy (SMA) Treatment. The journal of current pediatrics. 2021;19:248-258.
12. 12. 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.
13. 13. Sel SK, Kasap H, Koç F, Güzel Aİ. Spinal Muscular Atrophy and Its Molecular Genetics. Archives Medical Review Journal. 2012;21(1):1-26.
14. 14. DiVito D, Konek S. Spinal Muscular Atrophy—Summary for Nutritional Care: The Consensus Statement 21. for Standard of Care in Spinal Muscular Atrophy. ICAN: Infant, Child, & Adolescent Nutrition. 2010;2(6):348-354.
15. 15. Salort-Campana E, Quijano-Roy S. (2020). Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease). Archives de Pédiatrie. 2020;27(7):7S23-7S28.
16. 16. Piepers S, Van Den Berg LH, Brugman F, et al. A natural history study of late onset spinal muscular atrophy types 3b and 4. Journal of Neurology. 2008;255:1400-1404.
17. 17. Oskoui M, Darras BT, De Vivo DC. Spinal muscular atrophy: 125 years later and on the verge of a cure. In Spinal muscular atrophy. Academic Press; 2017 p. 3-19.
18. 18. Muslu M. Spinal Muscular Atrophy (SMA) and Medical Nutrition Therapy. Istanbul University Institute of Health Sciences Journal of Advanced Research in Health Sciences. 2021;4(3):131-140.
19. 19. Örnek Ö, Kolaç N, Özdemir S. Determining Health Problems of Child Workers with the Omaha System: Example From A Suburb of Istanbul. International Anatolian Journal of Social Sciences. 2022;6(9):809-825.
20. 20. 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. European Journal of Human Genetics. 2012;20(1):27-32.
21. 21. T.R. Ministry of Health, General Directorate of Health Services. Spinal Muscular Atrophy (SMA) Clinical Protocol. Ankara. 2022. https://shgmargestddb.saglik.gov.tr/TR-89971/spinal-muskuler-atrofi-sma-klinik-protokolu.html (Last Access Date: 06.06.2024)
22. 22. Keinath MC, Prior DE, Prior TW. Spinal muscular atrophy: mutations, testing, and clinical relevance. The Application of Clinical Genetics. 2021;14:11-25.
23. 23. Prior TW, Swoboda KJ, Scott HD, Hejmanowski AQ. Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. American Journal of Medical Genetics Part A. 2004;130:307-10.
24. 24. Rochmah MA, Awano H, Awaya T, et al. Spinal muscular atrophy carriers with two SMN1 copies. Brain and Development. 2017;39:851-60.
25. 25. Arnold ES, Fischbeck KH. Spinal muscular atrophy. In: Handbook of Clinical Neurology. Elsevier; 2018. p. 591–601.
26. 26. Corti S, Nizzardo M, Nardini M, Donadoni C, Salani S, Ronchi D. et al. Embryonic Stem Cell-derived Neural Stem Cells Improve Spinal Muscular Atrophy Phenotype in Mice. Brain 2010;133:465-81.
27. 27. Eyüboğlu M. Being a Parent of a Child Diagnosed with SMA. Çarman KB. (Ed.). Spinal Muscular Atrophy Family Information Book. 1rd Ed. Association to Fight SMA Disease; 2021 p. 108-116.
28. 28. Cremers CH, Fischer MJ, Kruitwagen-van Reenen ET, et al. Participation and mental well-being of mothers of home-living patients with spinal muscular atrophy. Neuromuscular Disorders. 2019;29(4):321-329.
29. 29. Çatulay D, Süner Z, Güre MDP. Social Work Interventions with Spinal Muscular Atrophy (SMA) Patients and Their Families. Turkish Journal of Social Work. 2023;7(2):112-127.
30. 30. Qian Y, McGraw S, Henne J, et al. Understanding the experiences and needs of individuals with spinal muscular atrophy and their parents: a qualitative study. BMC Neurology. 2015;15(1):1-12.
31. 31. Iannaccone ST, Hynan LS, Morton A, et al. The PedsQL (Tm) in pediatric patients with spinal muscular atrophy: feasibility, reliability, and validity of the pediatric quality of life inventory (Tm) generic core scales and neuromuscular module. Neuromuscular Disorders. 2009;19(12):805-812.
32. 32. Çakaloz B, Kurul S. The Investigation of Duchenne Muscular Dystrophy Children’s Family Functions and their Mothers’ Depression and Anxiety Levels. Turkish Journal of Clinical Psychiatry. 2005;8: 24-30.
33. 33. Willems J, Farin-Glattacker E, Langer T. Evaluation of a case management to support families with children diagnosed with spinal muscular atrophy—protocol of a controlled mixed-methods study. Frontiers in Pediatrics. 2021;9:614512.
34. 34. Morcov MV, Padure L, Morcov CG, Onose G. Findings regarding emotion regulation strategies and quality of life's domains in families having children with spinal muscular atrophy. Journal of Medicine and Life. 2021;14(3):390-396.
35. 35. Yao M, Xia Y, Feng Y, et al. Anxiety and depression in school-age patients with spinal muscular atrophy: a cross-sectional study. Orphanet Journal of Rare Diseases. 2021;16(1):1-12.
36. 36. Plantinga LC, Fink NE, Harrington-Levey R, et al. Association of Social Support with Outcomes in Incident Dialysis Patients. Clinical Journal of the American Society of Nephrology. 2010;5(8):1480-1488.
37. 37. Tezel A, Karabulutlu E, Şahin Ö. Depression and Perceived Social Support from Family in Turkish Patients with Chronic Renal Failure Treated by Hemodialysis. Journal of Research in Medical Sciences: The Official Journal of Isfahan University of Medical Sciences. 2011;16(5):666-673.
38. 38. Ok E, Kutlu, FY. Hopelessness, anxiety, depression and treatment adherence in chronic hemodialysis patients.International Journal of Caring Sciences. 2019;12(1):423-429.
39. 39. Yıldız AB, Söyler HÇ. SMA Tanılı Çocukları Olan Ailelerde Umutsuzluk Seviyeleri, Sosyal Destek ve Beslenme Sürecindeki Aile Tutumları. Sosyal, Beşeri ve İdari Bilimler Dergisi. 2022;5(12):1674-1689.
40. 40. Yücens B, Kotan VO, Özkayar N, et al. The Association between Hope, Anxiety, Depression, Coping Strategies and Perceived Social Support in Patients with Chronic Kidney Disease. Dusunen Adam The Journal of Psychiatry and Neurological Sciences. 2019;32:43-51.
41. 41. Dangouloff T, Hiligsmann M, Deconinck N, et al. Financial Cost and Quality of Life of Patients with Spinal Muscular Atrophy Identified by Symptoms or Newborn Screening. Developmental Medicine & Child Neurology. 2023;65(1):67-77.
42. 42. Murrell DV, Crawford CA, Jackson CT, et al. Identifying Opportunities to Provide Family-Centered Care for Families with Children with type 1 Spinal Muscular Atrophy. Journal of Pediatric Nursing. 2018;43:111-119.
43. 43. Agosto C, Salamon E, Divisic A et al. Do We Always Need to Treat Patients with Spinal Muscular Atrophy? A personal view and experience. Orphanet Journal of Rare Diseases. 2021;16(1):1-4.
44. 44. Miodrag N, Hodapp RM. Chronic Stress and Health among Parents of Children with Intellectual and Developmental Disabilities. Current Opinion in Psychiatry. 2010;23:407-411.
45. 45. Cousino MK, Hazen RA. Parenting Stress among Caregivers of Children with Chronic Illness: A Systematic Review. Journal of Pediatric Psychology. 2013;38:809-828.
46. 46. Miodrag N, Burke M, Tanner-Smith E, Hodapp RM. Adverse Health in Parents of Children with Disabilities and Chronic Health Conditions: A Meta-Analysis Using The Parenting Stress Index’s Health Sub-Domain. Journal of Intellectual Disability Research. 2015;59:257-271.
47. 47. Hatzmann J, Heymans HS, Ferrer-i-Carbonell A, van Praag BM, Grootenhuis MA. Hidden consequences of success in pediatrics: parental health-related quality of life—results from the Care Project. Pediatrics. 2008;122:e1030-8
48. 48. Durukan İ, Ceylan MF, Kara K, et al. Quality of Life in Children with Mental Retardation. Yeni Symposium 2011;49(1):43-50.
49. 49. Bekiroğlu S. Difficulties and Social Service Needs of Families of Neuromuscular Patients. 2013; Master Thesis..
50. 50. Gören AB. Grief Process of Mothers of Children with Intellectual Disabilities. Cumhuriyet Journal of Theology. 2016;20(1):225-244.
51. 51. Landfeldt E, Edström J, Sejersen T, et al. Quality of Life of Patients with Spinal Muscular Atrophy: A Systematic Review. European Journal of Pediatric Neurology. 2019;23(3):347-356.
52. 52. Farrar MA, Carey KA, Paguinto SG., et al. Financial, Opportunity and Psychosocial Costs of Spinal Muscular Atrophy: An Exploratory Qualitative Analysis of Australian Carer Perspectives. BMJ Open. 2018;8(5):e020907.
53. 53. Brandt M, Johannsen L, Inhestern L, Bergelt C. Parents as Informal Caregivers of Children and Adolescents with Spinal Muscular Atrophy: A Systematic Review Of Quantitative and Qualitative Data on the Psychosocial Situation, Caregiver Burden, And Family Needs. Orphanet Journal of Rare Diseases. 2022;17(1):274.
54. 54. Çankaya T. Prenatal Diagnosis for Spinal Muscular Atrophy. Journal of DEU Medical Faculty. 2010;24(2):65-68.
55. 55. Yılmaz NA, Yavuz H. Yutma rehabilitasyonu ev programına alınan yutması bozulmuş (disfajik) çocuk hastaların özellikleri. Necmettin Erbakan Üniversitesi Sağlık Bilimleri Fakültesi Dergisi. 2020;3(1):1-6.
56. 56. Juliano RL, Dixit VR, Kang H, et al. Epigenetic Manipulation of Gene Expression. Journal of Cell Biology. 2005;169(6):847-857.
57. 57. T.R. Presidential Legislation Information System. Aid Collection Law. Ankara. 2020. https://www.mevzuat.gov.tr/mevzuat?MevzuatNo=2860&MevzuatTur=1&MevzuatTertip=5 (Last Access Date: 04.06.2024)
58. 58. 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.
59. 59. Finkel RS, Mercuri E, Meyer OH, et al. 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.
60. 60. 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.
61. 61. Kingston RL. Home Care of the Ventilator Dependent Child. Home Health Care Management & Practice 2007;19(6):436-441.
62. 62. İldokuz, D. Determine the Home Care Needs of Children Diagnosed with Chronic Diseases According to the Omaha System. 2022; Master Thesis.
63. 63. Gedük AE. Developing Roles Of The Nursing Profession. HSP. 2018;5(2):253-258.
64. 64. Açıkgöz G, Baykal U. Legal Regulations Supporting the Professional Roles and Autonomy of Nurses. Istanbul Kent University Journal of Health Sciences. 2023;2(1):29-34.
65. 65. Walkowiak D, Domaradzki J. Needs Assessment Study of Rare Diseases Education for Nurses And Nursing Students in Poland. Orphanet Journal of Rare Diseases. 2020;15(1):1-13.