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Türkiye’de Üçüncül Bir Merkezden Duchenne ve Becker Müsküler Distrofili Hastaların Klinik Özellikleri ve Yaşam Kalitesi

Yıl 2021, Cilt: 19 Sayı: 1, 15 - 22, 09.04.2021

Öz

Giriş: Duchenne ve Becker musküler distrofi (DMD,BMD); progresif kas güçsüzlüğü, motor beceriksizlik, kardiyomyopati ve r
solunumsal problemler, artmış bilişsel kayıp riski ve psikolojik problemler gibi sistemik bulgularla seyreden kronik, progresif seyirli,
nadir genetik bozukluklardır. Bu nöromusküler hastalık grubunda yalnızca hastaların değil bakımverenin de yaşam kalitesinin
negatif yönde etkilendili psikolojik problemlerin eşlik ettiği durumlardır. Bu çalışmada; DMD/BMD hastalarınnın klinik özellikleri
yanısıra hastalar ve bakımverenlrin psikolojik ve sosyal etkileninmleri ortaya konulmaya çalışılmıştır.

Gereç ve Yöntem: 3’ü BMD, 17’si DMD tanılı, 8-18 yaş aralığındaki 20 hasta ile age-matched 20 sağlıklı control çalışmaya
dahil edilerek tanımlayıcı ve kesitsel bir çalışma planlanmıştır. Hastalar; çocuk nörolojisi, çocuk kardiyolojisi ve çocuk psikiyatrisi
tarafından eş zamanlı değerlendirilmiştir. Demografik ve klinik özellikleri kaydedilmiştir. Çocuklar için revize edilmiş Wechsler
zeka ölçeği,Çocuklar ve ebeveynler için yaşam kalitesi ölçeğ ve Güç ve Güçlükler Anketi hasta ve kontrol grubuna uygulanmıştır.

Bulgular: Klinik ciddiyeti orta ve ciddi olan DMD/BMD hastalarında sağlıklı kontrollerle karşılaştırıldığında hem hasta hem
bakımverenin QOL skorları oldukça düşük saptandı. SDQ’ya göre ise alt içerikler açısından hem tüm grupta hem de DMD tanılı
hasta grubunda emosyonel symptoms, peer problems ve social behavior açısından sağlıklı kontrollere göre yüksek skorlar elde
edildiği başka bir deyişle bu alanlarda negative yönde belirgin etkilenme olduğu görüldü. PedsQL child-parent skorları tüm alt
başlıklarda sağlıklı kontrollere göre istatistiksel önemlilikle birlikte düşük saptanmıştı.

Sonuç: DMD/BMD yönetmekte güçlük yaşanan çok sayıda komplikasyonu olan bir grup kronik hastalıktır. Yaşam kalitesinin
sağlıklı çocuklar kadar veya onlara yakın bir düzeyde tutulması hastalık yönetiminin ana hedefi olmalıdır. Günümüzde bu hastalık
grubundaki önerilen veya henüz deneme aşamasındaki tedaviler de yaşam kalitesinin arttırılması ön koşulu ile değerlendirilmektedir.
Bu nedenle; klinik pratikte sağlık hizmetleri yanısıra yaşam kalitesinin sorgulanması ve arttırıcı önerilerin verilmesi bir rutin
olmalıdır.

Kaynakça

  • 1. Birnkrant DJ, Bushby K, Bann CM, Alman BA, Apkon SD, Blackwell A, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018 Apr;17(4):347- 61. 1https://doi.org/10.1016/S1474-4422(18)30025-5.
  • 2. Le Rumeur E. Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies. Bosn J Basic Med Sci [Internet]. 2015 Jul 20 [cited 2020 Apr 30];15(3). https://doi.org/10.17305/bjbms.2015.636.
  • 3. Trout CJ, Case LE, Clemens PR, McArthur A, Noritz G, Ritzo M, et al. A Transition Toolkit for Duchenne Muscular Dystrophy. Pediatrics. 2018 Oct;142(Supplement 2):S110-7. https://doi. org/10.1542/peds.2018-0333M.
  • 4. Felisari G, Boneschi FM, Bardoni A, Sironi M, Comi GP, Robotti M, et al. Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy. Neurology. 2000 Aug 22;55(4):559-64. https://doi.org/10.1212/WNL.55.4.559.
  • 5. Wechsler D. Wechsler Intelligence Scale for Children. San Antonio, TX, US: Psychological Corporation; 1949. (Wechsler Intelligence Scale for Children).
  • 6. Savaşır I, Şahin N. Wechsler çocuklar için zeka ölçeği (WISC-R) uygulama kitapçığı. Türk Psikologlar Derneği Ank. 1995.
  • 7. Goodman R. The Strengths and Difficulties Questionnaire: a research note. J Child Psychol Psychiatry. 1997 Jul;38(5):581-6. https://doi.org/10.1111/j.1469-7610.1997.tb01545.x.
  • 8. Güvenir T, Özbek A, Baykara B, Arkar H, Şentürk B, İncekaş S. (2008). Güçler ve Güçlükler Anketi’nin (GGA) Türkçe uyarlamasının psikometrik özellikleri. Çocuk ve Gençlik Ruh Sağlığı Dergisi. 15(2):65-74.
  • 9. Varni JW, Seid M, Kurtin PS. Pediatric health-related quality of life measurement technology: A guide for health care decision makers. J Clin Outcomes Manag. 1999a;6:33-40.
  • 10. The World Health Organization Quality of Life assessment (WHOQOL): position paper from the World Health Organization. Soc Sci Med 1982. 1995 Nov;41(10):1403-9. https://doi.org/10.1016/0277-9536(95)00112-k.
  • 11. Study protocol for the World Health Organization project to develop a Quality of Life assessment instrument (WHOQOL). Qual Life Res Int J Qual Life Asp Treat Care Rehabil. 1993 Apr;2(2):153-9.
  • 12. Factors Associated With Health-Related Quality of Life in Children With Duchenne Muscular Dystrophy - Yi Wei, Kathy Nixon Speechley, Guangyong Zou, Craig Campbell, 2016 [Internet]. [cited 2020 Apr 30]. Available from: https://journals.sagepub.com/doi/abs/10.1177/0883073815627879.
  • 13. McDonald CM, McDonald DA, Bagley AM, Sienko-Thomas S, Buckon C, Henricson E, et al. Relationship Between Clinical Outcome Measures and Parent Proxy Reports of Health-related Quality of Life in Ambulatory Children with Duchenne Muscular Dystrophy. J Child Neurol. 2010 Sep;25(9):1130-44. https://doi. org/10.1177/0883073810371509.
  • 14. Davis SE, Hynan LS, Limbers CA, Andersen CM, Greene MC, Varni JW, et al. The PedsQL in pediatric patients with Duchenne muscular dystrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Neuromuscular Module and Generic Core Scales. J Clin Neuromuscul Dis. 2010 Mar;11(3):97-109. https://doi.org/10.1097/CND.0b013e3181c5053b.
  • 15. Uzark K, King E, Cripe L, Spicer R, Sage J, Kinnett K, et al. Healthrelated quality of life in children and adolescents with Duchenne muscular dystrophy. Pediatrics. 2012 Dec;130(6):e1559-1566.https://doi.org/10.1542/peds.2012-0858.
  • 16. Hellebrekers DMJ, Lionarons JM, Faber CG, Klinkenberg S, Vles JSH, Hendriksen JGM. Instruments for the Assessment of Behavioral and Psychosocial Functioning in Duchenne and Becker Muscular Dystrophy; a Systematic Review of the Literature. J Pediatr Psychol. 2019 01;44(10):1205-23. https:// doi.org/10.1093/jpepsy/jsz062.
  • 17. Bresolin N, Castelli E, Comi GP, Felisari G, Bardoni A, Perani D, et al. Cognitive impairment in Duchenne muscular dystrophy. Neuromuscul Disord. 1994 Jul 1;4(4):359-69. https://doi. org/10.1016/0960-8966(94)90072-8.
  • 18. Banihani R, Smile S, Yoon G, Dupuis A, Mosleh M, Snider A, et al. Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy. J Child Neurol. 2015 Oct;30(11):1472-82. https://doi.org/10.1177/0883073815570154.

Clinical Features and Quality of Life in Duchenne and Becker Muscular Dystrophy Patients from A Tertiary Center in Turkey

Yıl 2021, Cilt: 19 Sayı: 1, 15 - 22, 09.04.2021

Öz

Introduction: Duchenne Muscular Dystrophy (DMD) and Becker Muscular dystrophy (BMD), are chronic and progressive and rare genetic disorders that cause systemic involvement such as progressive muscle deterioration, motor disability, cardiomyopathy, and respiratory problems, with an increased risk of cognitive decline and psychological problems They are a group of neuromuscular diseases in which psychological problems affect negatively on quality of life (Qol) not only patients but also caregivers. This study demonstrates the clinical features of patients with DMD/BMD and their caregivers and compares controls with respects to psychological and social aspects.

Materials and Methods: A total of 20 patients (3 with BMD and 17 with DMD), aged between 8 and 18 years, and 20 age-matched healthy children were included
in this descriptive and cross-sectional study. The patients were evaluated by the pediatric neurology, cardiology, and psychiatry departments at the study time. Their
demographic and clinical features were recorded. The Wechsler Intelligence Scale for Children-Revised (WISC-R), Pediatric Quality of Life Inventory (PedsQL)
and its parent form, and the Strengths and Difficulties Questionnaire (SDQ) were applied to all of the participants.

Results: The QoL scores were lower in patients with moderate and severe DMD/ BMD and their caregivers. In patients with DMD and in both groups, emotional
symptoms, peer problems and prosocial behavior scores were higher in the subsets of the SDQ. The PedsQL child-parent scores were lower in all of the subsets with
statistical significance.

Conclusions: DMD and BMD comprise a group of chronic diseases with multiple complications that are difficult to manage. A QoL equal or close to that of the
healthy children should be targeted. Today, proposed or experimental treatments for this disease group are assessed based on their ability to enhance QoL. Inquiring
into the QoL and counseling should become routine.

Kaynakça

  • 1. Birnkrant DJ, Bushby K, Bann CM, Alman BA, Apkon SD, Blackwell A, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018 Apr;17(4):347- 61. 1https://doi.org/10.1016/S1474-4422(18)30025-5.
  • 2. Le Rumeur E. Dystrophin and the two related genetic diseases, Duchenne and Becker muscular dystrophies. Bosn J Basic Med Sci [Internet]. 2015 Jul 20 [cited 2020 Apr 30];15(3). https://doi.org/10.17305/bjbms.2015.636.
  • 3. Trout CJ, Case LE, Clemens PR, McArthur A, Noritz G, Ritzo M, et al. A Transition Toolkit for Duchenne Muscular Dystrophy. Pediatrics. 2018 Oct;142(Supplement 2):S110-7. https://doi. org/10.1542/peds.2018-0333M.
  • 4. Felisari G, Boneschi FM, Bardoni A, Sironi M, Comi GP, Robotti M, et al. Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy. Neurology. 2000 Aug 22;55(4):559-64. https://doi.org/10.1212/WNL.55.4.559.
  • 5. Wechsler D. Wechsler Intelligence Scale for Children. San Antonio, TX, US: Psychological Corporation; 1949. (Wechsler Intelligence Scale for Children).
  • 6. Savaşır I, Şahin N. Wechsler çocuklar için zeka ölçeği (WISC-R) uygulama kitapçığı. Türk Psikologlar Derneği Ank. 1995.
  • 7. Goodman R. The Strengths and Difficulties Questionnaire: a research note. J Child Psychol Psychiatry. 1997 Jul;38(5):581-6. https://doi.org/10.1111/j.1469-7610.1997.tb01545.x.
  • 8. Güvenir T, Özbek A, Baykara B, Arkar H, Şentürk B, İncekaş S. (2008). Güçler ve Güçlükler Anketi’nin (GGA) Türkçe uyarlamasının psikometrik özellikleri. Çocuk ve Gençlik Ruh Sağlığı Dergisi. 15(2):65-74.
  • 9. Varni JW, Seid M, Kurtin PS. Pediatric health-related quality of life measurement technology: A guide for health care decision makers. J Clin Outcomes Manag. 1999a;6:33-40.
  • 10. The World Health Organization Quality of Life assessment (WHOQOL): position paper from the World Health Organization. Soc Sci Med 1982. 1995 Nov;41(10):1403-9. https://doi.org/10.1016/0277-9536(95)00112-k.
  • 11. Study protocol for the World Health Organization project to develop a Quality of Life assessment instrument (WHOQOL). Qual Life Res Int J Qual Life Asp Treat Care Rehabil. 1993 Apr;2(2):153-9.
  • 12. Factors Associated With Health-Related Quality of Life in Children With Duchenne Muscular Dystrophy - Yi Wei, Kathy Nixon Speechley, Guangyong Zou, Craig Campbell, 2016 [Internet]. [cited 2020 Apr 30]. Available from: https://journals.sagepub.com/doi/abs/10.1177/0883073815627879.
  • 13. McDonald CM, McDonald DA, Bagley AM, Sienko-Thomas S, Buckon C, Henricson E, et al. Relationship Between Clinical Outcome Measures and Parent Proxy Reports of Health-related Quality of Life in Ambulatory Children with Duchenne Muscular Dystrophy. J Child Neurol. 2010 Sep;25(9):1130-44. https://doi. org/10.1177/0883073810371509.
  • 14. Davis SE, Hynan LS, Limbers CA, Andersen CM, Greene MC, Varni JW, et al. The PedsQL in pediatric patients with Duchenne muscular dystrophy: feasibility, reliability, and validity of the Pediatric Quality of Life Inventory Neuromuscular Module and Generic Core Scales. J Clin Neuromuscul Dis. 2010 Mar;11(3):97-109. https://doi.org/10.1097/CND.0b013e3181c5053b.
  • 15. Uzark K, King E, Cripe L, Spicer R, Sage J, Kinnett K, et al. Healthrelated quality of life in children and adolescents with Duchenne muscular dystrophy. Pediatrics. 2012 Dec;130(6):e1559-1566.https://doi.org/10.1542/peds.2012-0858.
  • 16. Hellebrekers DMJ, Lionarons JM, Faber CG, Klinkenberg S, Vles JSH, Hendriksen JGM. Instruments for the Assessment of Behavioral and Psychosocial Functioning in Duchenne and Becker Muscular Dystrophy; a Systematic Review of the Literature. J Pediatr Psychol. 2019 01;44(10):1205-23. https:// doi.org/10.1093/jpepsy/jsz062.
  • 17. Bresolin N, Castelli E, Comi GP, Felisari G, Bardoni A, Perani D, et al. Cognitive impairment in Duchenne muscular dystrophy. Neuromuscul Disord. 1994 Jul 1;4(4):359-69. https://doi. org/10.1016/0960-8966(94)90072-8.
  • 18. Banihani R, Smile S, Yoon G, Dupuis A, Mosleh M, Snider A, et al. Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy. J Child Neurol. 2015 Oct;30(11):1472-82. https://doi.org/10.1177/0883073815570154.
Toplam 18 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular İç Hastalıkları
Bölüm Research Article
Yazarlar

Özlem Köken

Özge Kucur Bu kişi benim

Candan Taşkıran Bu kişi benim

Ülkühan Öztoprak Bu kişi benim

Çiğdem Genç Sel Bu kişi benim

Erhan Aksoy Bu kişi benim

Ayse Aksoy Bu kişi benim

Tamer Yoldaş Bu kişi benim

Deniz Yüksel Bu kişi benim

Yayımlanma Tarihi 9 Nisan 2021
Yayımlandığı Sayı Yıl 2021 Cilt: 19 Sayı: 1

Kaynak Göster

APA Köken, Ö., Kucur, Ö., Taşkıran, C., Öztoprak, Ü., vd. (t.y.). Clinical Features and Quality of Life in Duchenne and Becker Muscular Dystrophy Patients from A Tertiary Center in Turkey. Güncel Pediatri, 19(1), 15-22.
AMA Köken Ö, Kucur Ö, Taşkıran C, Öztoprak Ü, Genç Sel Ç, Aksoy E, Aksoy A, Yoldaş T, Yüksel D. Clinical Features and Quality of Life in Duchenne and Becker Muscular Dystrophy Patients from A Tertiary Center in Turkey. Güncel Pediatri. 19(1):15-22.
Chicago Köken, Özlem, Özge Kucur, Candan Taşkıran, Ülkühan Öztoprak, Çiğdem Genç Sel, Erhan Aksoy, Ayse Aksoy, Tamer Yoldaş, ve Deniz Yüksel. “Clinical Features and Quality of Life in Duchenne and Becker Muscular Dystrophy Patients from A Tertiary Center in Turkey”. Güncel Pediatri 19, sy. 1 t.y.: 15-22.
EndNote Köken Ö, Kucur Ö, Taşkıran C, Öztoprak Ü, Genç Sel Ç, Aksoy E, Aksoy A, Yoldaş T, Yüksel D Clinical Features and Quality of Life in Duchenne and Becker Muscular Dystrophy Patients from A Tertiary Center in Turkey. Güncel Pediatri 19 1 15–22.
IEEE Ö. Köken, Ö. Kucur, C. Taşkıran, Ü. Öztoprak, Ç. Genç Sel, E. Aksoy, A. Aksoy, T. Yoldaş, ve D. Yüksel, “Clinical Features and Quality of Life in Duchenne and Becker Muscular Dystrophy Patients from A Tertiary Center in Turkey”, Güncel Pediatri, c. 19, sy. 1, ss. 15–22.
ISNAD Köken, Özlem vd. “Clinical Features and Quality of Life in Duchenne and Becker Muscular Dystrophy Patients from A Tertiary Center in Turkey”. Güncel Pediatri 19/1 (t.y.), 15-22.
JAMA Köken Ö, Kucur Ö, Taşkıran C, Öztoprak Ü, Genç Sel Ç, Aksoy E, Aksoy A, Yoldaş T, Yüksel D. Clinical Features and Quality of Life in Duchenne and Becker Muscular Dystrophy Patients from A Tertiary Center in Turkey. Güncel Pediatri.;19:15–22.
MLA Köken, Özlem vd. “Clinical Features and Quality of Life in Duchenne and Becker Muscular Dystrophy Patients from A Tertiary Center in Turkey”. Güncel Pediatri, c. 19, sy. 1, ss. 15-22.
Vancouver Köken Ö, Kucur Ö, Taşkıran C, Öztoprak Ü, Genç Sel Ç, Aksoy E, Aksoy A, Yoldaş T, Yüksel D. Clinical Features and Quality of Life in Duchenne and Becker Muscular Dystrophy Patients from A Tertiary Center in Turkey. Güncel Pediatri. 19(1):15-22.