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Duchenne musküler distrofili çocuklarda fonksiyonel seviye ile gövde kontrolü ve solunum fonksiyonları arasındaki ilişki

Year 2020, Volume: 7 Issue: 3, 277 - 283, 06.01.2021

Abstract

Amaç: Bu çalışmada Duchenne Musküler Distrofi (DMD)’li çocukların alt ekstremite fonksiyonel seviyesi ile gövde kontrolü ve solunum fonksiyonları arasındaki ilişkinin incelenmesi amaçlandı.
Yöntem: Çalışmamıza yaşları 6-16 yıl arasında, 23 Duchenne Musküler Distrofi’li çocuk dahil edildi. Çocukların alt ekstremite fonksiyonel seviyesi (Brooke Alt Ekstremite Fonksiyonel Sınıflandırması), gövde kontrolü, (Gövde Kontrol Ölçüm Skalası), kas kuvveti (manuel kuvvet ölçüm cihazı) ve solunum fonksiyonları (Solunum Fonksiyon Testi) değerlendirildi.
Bulgular: Çalışmamızda Brooke Alt Ekstremite Fonksiyonel Sınıflandırması’nın, Gövde Kontrol Ölçüm Skalası’nın statik oturma dengesi, dinamik oturma dengesi, dinamik uzanma (denge reaksiyonları) alt başlıkları ve toplam puanı ve solunum fonksiyonlarının FVC ve PEF beklenen yüzde değerleri ile anlamlı düzeyde ilişkili olduğu (p<0,01) gösterildi. Alt ekstremite fonksiyonları ile gövde, boyun kas kuvveti ve solunum fonksiyonlarının FEV1 ve FEV1/FVC beklenen yüzde değerleri arasında anlamlı bir ilişki tespit edilemedi (p>0,05).
Tartışma: Çalışmamızda Duchenne Musküler Distrofi’de, gövde kontrolü ve solunum fonksiyonlarının alt ekstremite fonksiyonel seviyesi üzerinde önemli rol oynadığı gösterildi. Bu sonuçlar çocukların fonksiyonel seviyesinin belirlenmesinde solunum parametreleriyle birlikte gövdenin de etkili olabileceğini ve Duchenne Musküler Distrofi’ye yönelik değerlendirme yaklaşımlarına erken dönemden itibaren gövde kontrolünün de eklenmesinin gerekliliğini düşündürdü.

References

  • 1. Hoffman EP, Brown Jr RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987;51:919-28.
  • 2. Koenig M, Hoffman E, Bertelson C, et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 1987;50:509-17.
  • 3. Guiraud S, Chen H, Burns DT,et al. Advances in genetic therapeutic strategies for Duchenne muscular dystrophy. Exp Physiol. 2015;100:1458-67.
  • 4. Van Ruiten H, Bushby K, Guglieri M. State of the art advances in Duchenne muscular dystrophy. EMJ. 2017;2:90-9.
  • 5. Emery AE, Muntoni F, Quinlivan RC. Duchenne muscular dystrophy: Oxford University Press. Oxford; 2015.
  • 6. Peeters L, Kingma I, van Dieën J, et al. Don’t forget the trunk in Duchenne muscular dystrophy patients: more muscle weakness and compensation than expected. JNER. Irvine; 2019;16:44.
  • 7. Sá CdSCd, Fagundes IK, Araújo TB, et al. The relevance of trunk evaluation in Duchenne muscular dystrophy: the segmental assessment of trunk control. Arq Neuropsiquiat. 2016;74:791-5.
  • 8. Verheyden G, Vereeck L, Truijen S, et al. Trunk performance after stroke and the relationship with balance, gait and functional ability. Clin Rehabil. 2006;20:451-8.
  • 9. Akima H, Lott D, Senesac C, et al. Relationships of thigh muscle contractile and non-contractile tissue with function, strength, and age in boys with Duchenne muscular dystrophy. Neuromuscul Disord. 2012;22:16-25.
  • 10. Jandt SR, da Sil Caballero RM, Junior LAF, et al. Correlation between trunk control, respiratory muscle strength and spirometry in patients with stroke: an observational study. Physiother Res Int. 2011;16:218-24.
  • 11. Kelly BJ, Luce JM. The diagnosis and management of neuromuscular diseases causing respiratory failure. Chest. 1991;99:1485-94.
  • 12. Perez T. Maladies neuromusculaires: évaluation des fonctions ventilatoires. Rev Neurol. 2006;162:437-44.
  • 13. Ricotti V, Selby V, Ridout D, et al. Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study. Neuromuscul Disord. 2019;29:261-268.
  • 14. Brooke MH, Griggs RC, Mendell JR, et al. Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle nerve. 1981;4:186-97.
  • 15. Arı G. Spastik Diplejik Serebral Parsili Çocuklarda Gövde Kontrolünün Motor Fonksiyon Üzerine Etkisinin Araştırılması. (Thesis). Ankara: Hacettepe Univ; 2015.
  • 16. Şişmanlar T. Solunum Fonksiyon Testleri. In: Çocuk Göğüs Hastalıklarında Tanı Yöntemleri. Tana Aslan A, Kiper N, eds. 1st ed. TÜSAD; 2016: 1-16.
  • 17. Otman A, Demirel H, Sade A. Tedavi hareketlerinde değerlendirme prensipleri. Hacettepe Üniversitesi Yayınları. Ankara; 2003.
  • 18. Parpucu Tİ. Sağlıklı bireylerde el bileği çevre kas kuvvetinin değerlendirmesinde dijital el dinamometresinin etkinlik ve güvenirliğinin araştırılması. (Thesis). Isparta: Süleyman Demirel Üniv; 2009.
  • 19. Bohannon RW. Recovery and correlates of trunk muscle strength after stroke. Int J Rehabil Res. 1995;18:162-7.
  • 20. Collin C, Wade D. Assessing motor impairment after stroke: a pilot reliability study. J Neurol Neurosurg Psychiatry Res. 1990;53:576-9.
  • 21. Duarte E, Marco E, Muniesa J, et al. Trunk control test as a functional predictor in stroke patients. J Rehabil Med. 2002;34:267-72.
  • 22. Franchignoni F, Tesio L, Ricupero C, et al. Trunk control test as an early predictor of stroke rehabilitation outcome. Stroke. 1997;28:1382-5.
  • 23. Sandin KJ, Smith BS. The measure of balance in sitting in stroke rehabilitation prognosis. Stroke. 1990;21:82-6.
  • 24. Verheyden G, Nieuwboer A, De Wit L, et al. Trunk performance after stroke: an eye catching predictor of functional outcome. J Neurol Neurosurg Psychiatry. 2007;78:694-8.
  • 25. Kallem Seyyar G, Aras B, Aras O. Trunk control and functionality in children with spastic cerebral palsy. Dev Neurorehabil. 2019;22:120-5.
  • 26. Vignos P, Archibald K. Maintenance of ambulation in childhood muscular dystrophy. J Chronic Dis Manag. 1960;12:273-90.
  • 27. Aldana EZ, Eltayeb N, Miller M, et al. Predictors of ambulation in patients with Duchene muscular dystrophy. Neuromuscul. Disord.. 2017;27:S101.
  • 28. McDonald CM, Abresch RT, Carter GT, et al. Profiles of neuromuscular diseases. Duchenne muscular dystrophy. Am J Phys Med Rehabil. 1995;74(5 Suppl):S70-92.
  • 29. Bozgeyik S, Alemdaroğlu İ, Bulut N, et al. Neck flexor muscle strength and its relation with functional performance in Duchenne muscular dystrophy. Eur J Paediatr Neurol. 2017;21:494-9.
  • 30. Uchikawa K, Liu M, Hanayama K, et al. Functional status and muscle strength in people with Duchenne muscular dystrophy living in the community. J Rehabil Med. 2004;36:124-9.
  • 31. Lerario A, Bonfiglio S, Sormani M, et al. Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures. BMC Neurol. 2012;12:91.
  • 32. Rochester DF, Esau SA. Assessment of ventilatory function in patients with neuromuscular disease. Thorac Surg Clin. 1994;15:751-63.
  • 33. LoMauro A, Romei M, Gandossini S, et al. Evolution of respiratory function in Duchenne muscular dystrophy from childhood to adulthood. Eur Respir J. 2018;51:1701418.
  • 34. Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. The Lancet Neurol. 2018;17:347-61.

The relationship between functional level, trunk control and pulmonary functions in children with Duchenne muscular dystrophy

Year 2020, Volume: 7 Issue: 3, 277 - 283, 06.01.2021

Abstract

Purpose: The aim of this study was to investigate the relationship between lower extremity functional level and trunk control and pulmonary functions in children with Duchenne Muscular Dystrophy.
Methods: 23 children with Duchenne Muscular Dystrophy, between the ages of 6-16 years were included in the study. Functional classification of lower extremities in children (Brooke Lower Extremity Functional Classification), trunk control (Trunk Control Measurement Scale), muscle strength (handheld dynamometer) and respiratory functions (Respiratory Function Test) was evaluated.
Results: In our study, it was shown that Brooke Lower Extremity Functional Classification was significantly associated with static sitting balance, dynamic sitting balance, dynamic reach (balance reactions) parameters and total score of Trunk Control Measurement Scale, and FVC and PEF expected percentage values (p <0.01). No significant relationship was found between lower extremity functions and trunk, neck muscle strength and FEV1 and FEV1 / FVC expected percentage values of respiratory functions (p> 0.05).
Conclusion: In our study, it was shown that trunk control and pulmonary functions play an important role on lower extremity functional level in Duchenne Muscular Dystrophy. These results suggested that the trunk can be effective in determining the functional level of the children together with the respiratory parameters, and that trunk control should be added to the evaluation approaches for Duchenne Muscular Dystrophy from the early stage.

References

  • 1. Hoffman EP, Brown Jr RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987;51:919-28.
  • 2. Koenig M, Hoffman E, Bertelson C, et al. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell. 1987;50:509-17.
  • 3. Guiraud S, Chen H, Burns DT,et al. Advances in genetic therapeutic strategies for Duchenne muscular dystrophy. Exp Physiol. 2015;100:1458-67.
  • 4. Van Ruiten H, Bushby K, Guglieri M. State of the art advances in Duchenne muscular dystrophy. EMJ. 2017;2:90-9.
  • 5. Emery AE, Muntoni F, Quinlivan RC. Duchenne muscular dystrophy: Oxford University Press. Oxford; 2015.
  • 6. Peeters L, Kingma I, van Dieën J, et al. Don’t forget the trunk in Duchenne muscular dystrophy patients: more muscle weakness and compensation than expected. JNER. Irvine; 2019;16:44.
  • 7. Sá CdSCd, Fagundes IK, Araújo TB, et al. The relevance of trunk evaluation in Duchenne muscular dystrophy: the segmental assessment of trunk control. Arq Neuropsiquiat. 2016;74:791-5.
  • 8. Verheyden G, Vereeck L, Truijen S, et al. Trunk performance after stroke and the relationship with balance, gait and functional ability. Clin Rehabil. 2006;20:451-8.
  • 9. Akima H, Lott D, Senesac C, et al. Relationships of thigh muscle contractile and non-contractile tissue with function, strength, and age in boys with Duchenne muscular dystrophy. Neuromuscul Disord. 2012;22:16-25.
  • 10. Jandt SR, da Sil Caballero RM, Junior LAF, et al. Correlation between trunk control, respiratory muscle strength and spirometry in patients with stroke: an observational study. Physiother Res Int. 2011;16:218-24.
  • 11. Kelly BJ, Luce JM. The diagnosis and management of neuromuscular diseases causing respiratory failure. Chest. 1991;99:1485-94.
  • 12. Perez T. Maladies neuromusculaires: évaluation des fonctions ventilatoires. Rev Neurol. 2006;162:437-44.
  • 13. Ricotti V, Selby V, Ridout D, et al. Respiratory and upper limb function as outcome measures in ambulant and non-ambulant subjects with Duchenne muscular dystrophy: A prospective multicentre study. Neuromuscul Disord. 2019;29:261-268.
  • 14. Brooke MH, Griggs RC, Mendell JR, et al. Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle nerve. 1981;4:186-97.
  • 15. Arı G. Spastik Diplejik Serebral Parsili Çocuklarda Gövde Kontrolünün Motor Fonksiyon Üzerine Etkisinin Araştırılması. (Thesis). Ankara: Hacettepe Univ; 2015.
  • 16. Şişmanlar T. Solunum Fonksiyon Testleri. In: Çocuk Göğüs Hastalıklarında Tanı Yöntemleri. Tana Aslan A, Kiper N, eds. 1st ed. TÜSAD; 2016: 1-16.
  • 17. Otman A, Demirel H, Sade A. Tedavi hareketlerinde değerlendirme prensipleri. Hacettepe Üniversitesi Yayınları. Ankara; 2003.
  • 18. Parpucu Tİ. Sağlıklı bireylerde el bileği çevre kas kuvvetinin değerlendirmesinde dijital el dinamometresinin etkinlik ve güvenirliğinin araştırılması. (Thesis). Isparta: Süleyman Demirel Üniv; 2009.
  • 19. Bohannon RW. Recovery and correlates of trunk muscle strength after stroke. Int J Rehabil Res. 1995;18:162-7.
  • 20. Collin C, Wade D. Assessing motor impairment after stroke: a pilot reliability study. J Neurol Neurosurg Psychiatry Res. 1990;53:576-9.
  • 21. Duarte E, Marco E, Muniesa J, et al. Trunk control test as a functional predictor in stroke patients. J Rehabil Med. 2002;34:267-72.
  • 22. Franchignoni F, Tesio L, Ricupero C, et al. Trunk control test as an early predictor of stroke rehabilitation outcome. Stroke. 1997;28:1382-5.
  • 23. Sandin KJ, Smith BS. The measure of balance in sitting in stroke rehabilitation prognosis. Stroke. 1990;21:82-6.
  • 24. Verheyden G, Nieuwboer A, De Wit L, et al. Trunk performance after stroke: an eye catching predictor of functional outcome. J Neurol Neurosurg Psychiatry. 2007;78:694-8.
  • 25. Kallem Seyyar G, Aras B, Aras O. Trunk control and functionality in children with spastic cerebral palsy. Dev Neurorehabil. 2019;22:120-5.
  • 26. Vignos P, Archibald K. Maintenance of ambulation in childhood muscular dystrophy. J Chronic Dis Manag. 1960;12:273-90.
  • 27. Aldana EZ, Eltayeb N, Miller M, et al. Predictors of ambulation in patients with Duchene muscular dystrophy. Neuromuscul. Disord.. 2017;27:S101.
  • 28. McDonald CM, Abresch RT, Carter GT, et al. Profiles of neuromuscular diseases. Duchenne muscular dystrophy. Am J Phys Med Rehabil. 1995;74(5 Suppl):S70-92.
  • 29. Bozgeyik S, Alemdaroğlu İ, Bulut N, et al. Neck flexor muscle strength and its relation with functional performance in Duchenne muscular dystrophy. Eur J Paediatr Neurol. 2017;21:494-9.
  • 30. Uchikawa K, Liu M, Hanayama K, et al. Functional status and muscle strength in people with Duchenne muscular dystrophy living in the community. J Rehabil Med. 2004;36:124-9.
  • 31. Lerario A, Bonfiglio S, Sormani M, et al. Quantitative muscle strength assessment in duchenne muscular dystrophy: longitudinal study and correlation with functional measures. BMC Neurol. 2012;12:91.
  • 32. Rochester DF, Esau SA. Assessment of ventilatory function in patients with neuromuscular disease. Thorac Surg Clin. 1994;15:751-63.
  • 33. LoMauro A, Romei M, Gandossini S, et al. Evolution of respiratory function in Duchenne muscular dystrophy from childhood to adulthood. Eur Respir J. 2018;51:1701418.
  • 34. Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. The Lancet Neurol. 2018;17:347-61.
There are 34 citations in total.

Details

Primary Language Turkish
Subjects Health Care Administration
Journal Section Articles
Authors

Gokce Yagmur Gunes 0000-0001-8651-8318

Oznur Yılmaz 0000-0002-2463-7503

Publication Date January 6, 2021
Submission Date April 25, 2019
Published in Issue Year 2020 Volume: 7 Issue: 3

Cite

Vancouver Gunes GY, Yılmaz O. Duchenne musküler distrofili çocuklarda fonksiyonel seviye ile gövde kontrolü ve solunum fonksiyonları arasındaki ilişki. JETR. 2021;7(3):277-83.