Duchenne Musküler Distrofide Pediatri Uzmanları ve Pediatri Uzmanlık Öğrencilerinin Bilgi, Tutum ve Uygulamalarının Değerlendirilmesi
Öz
Amaç: Kronik ve ilerleyici bir seyir gösteren Duchenne Musküler Distrofinopati (DMD), çocukluk çağının en sık karşılaşılan herediter kas hastalığı olup, yönetiminde pediatri uzmanlık öğrencileri ve pediatristler önemli rol oynamaktadır. Bu çalışmada; pediatri uzmanlık öğrencileri ve pediatristlerin DMD hakkındaki bilgi düzeyleri ve tutum özelliklerinin belirlenmesi amaçlanmıştır.
Gereç ve Yöntemler: Çalışmamızda pediatri uzmanlık öğrencisi hekimler ve pediatri hekimlerinin DMD’nin genetik, patofizyolojik, klinik ve laboratuvar özellikleri yanısıra izlem ve yönetim özelliklerini kapsayan soruları cevaplamaları istenmiştir. Bu çalışma için veriler Google forms (Google LLC, Mountain View, CA, ABD isimli online tool yolu ile; makale yazarları tarafından hazırlanan 17 soruluk araştırmacılar tarafından tasarlanan bir anket aracılığıyla online ortamda toplanmıştır.
Bulgular: Çalışmaya %53.8’i pediatrist, %13.7’si pediatri yandal uzmanlık öğrencisi, %32.5’i pediatri uzmanlık öğrencisi olmak üzere toplam 197 katılımcı alındı. DMD’nin X-linked geçiş gösterdiği katılımcıların %74.6’sı, her iki cinsiyette de görülebileceği %42.6’sı, distrofin proteinin primer eksikliği sonucu geliştiği bilgisi katılımcıların %93.3’ü tarafından doğru yanıtlandı. Katılımcıların %91.9’u DMD’li hastaların 9-11 yaş civarında yürümeyi kaybettiğini belirtti. DMD’li bir hastanın izleminde rol oynayan pediatri yandalları ve pediatri dışı bölümler açısından katılımcıların %50 ve daha fazlasının yeterli bilgisi olmadığı kaydedildi.
Sonuç: Bu çalışma ile pediatrik hasta takip ve tedavisinde önemli rol oynayan geniş bir hekim grubu değerlendirilerek DMD’nin genetik ve klinik özellikleri ve hastalık yönetimindeki önemli noktaların öğrenim faaliyetleri ile geliştirilmesinin gerekliliği dikkati çekmiştir.
Anahtar Kelimeler
duchenne musküler distrofi nöromusküler hastalık nadir hastalık bilgi düzeyi tutum
Destekleyen Kurum
Yoktur
Proje Numarası
Yoktur
Teşekkür
Çalışmaya katılan tüm hekimlere teşekkür ederiz.
Kaynakça
- Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol 2018;17:251-67.
- 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;17:347-61.
- Darras BT, Urion DK, Ghosh PS. Dystrophinopathies. In: Adam MP, Ardinger HH, Pagon RA, et al. eds. GeneReviews®. Seattle (WA): University of Washington, Seattle 2000. PMID: 20301295.
- Ahmed HM, Advani R, Arif AA, Khan S. An Assessment of the Knowledge, Attitudes, and Practices of Patients and Families with Diagnoses of Hereditary Neuromuscular Disorders. Neuroepidemiol 2020;54:265-71.
- Fujino H, Iwata Y, Saito T, Matsumura T, Fujimura H, Imura O. The experiences of patients with Duchenne muscular dystrophy in facing and learning about their clinical conditions. Int J Qual Stud Health Well-being 2016;11:32045.
- Denger B, Kinnett K, Martin A, Grant S, Armstrong C, Khodyakov D. Patient and caregiver perspectives on guideline adherence: the case of endocrine and bone health recommendations for Duchenne muscular dystrophy. Orphanet J Rare Dis 2019;14:205.
- Nozoe KT, Akamine RT, Mazzotti DR, Polesel DN, Grossklauss LF, Tufik S, et al. Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports. Sleep Sci 2016;9:129-33.
- Ishizaki M, Kobayashi M, Adachi K, Matsumura T, Kimura E. Female dystrophinopathy: Review of current literature. Neuromuscul Disord 2018;28:572-81.
- Eggers S, Pavanello RC, Passos-Bueno MR, Zatz M. Genetic counseling for childless women at risk for Duchenne muscular dystrophy. Am J Med Genet 1999;86:447-53.
- Wong SH, McClaren BJ, Archibald AD, Weeks A, Langmaid T, Ryan MM et al. A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy. Eur J Hum Genet 2015;23:1294-300.
- van Ruiten HJ, Straub V, Bushby K, Guglieri M. Improving recognition of Duchenne muscular dystrophy: a retrospective case note review. Arch Dis Child 2014;99:1074–7.
- Wonkam-Tingang E, Nguefack S, Esterhuizen AI, Chelo D, Wonkam A. DMD-related muscular dystrophy in Cameroon: Clinical and genetic profiles. Mol Genet Genomic Med 2020;8:e1362.
- Yayici Koken O, Gultutan P, Gurkas E, Degerliyurt A. Sleep: How is it affected in patients with DMD and their mothers? Minerva Pediatr [published online ahead of print, 2021 May 31. PMID: 34056890, DOI:10.23736/S2724-5276.21.06281-9
- Venugopal V, Pavlakis S. Duchenne Muscular Dystrophy. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2020 November 19, PMID: 29493971.
An Assessment of the Knowledge, Attitudes, and Practices of Pediatricians and Pediatric Residents in Duchenne Muscular Dystrophy
Öz
Objective: Pediatric residents and pediatricians play an important role in the management of Duchenne Muscular Dystrophinopathy (DMD) which is the most frequent hereditary muscle disease of childhood. Our study aims to evaluate the knowledge levels and approaches of pediatric residents and pediatricians on DMD.
Material and Methods: In this study, pediatric residents and pediatricians were asked to answer questions on the genetic, pathophysiological, clinical, and laboratory features, in addition, to follow-up and management of DMD. Data acquisition was carried out using an online questionnaire consisting of 17 questions prepared by the authors via Google forms (Google LLC, Mountain View, Ca, USA).
Results: The distribution of 197 responders was as follows: 53.8% were pediatricians, 13.7% were pediatric subspecialty fellows and 32.5% were pediatric residents with a total of 197 responders. 74.6% of the responders gave correct answers on the X-linked inheritance of DMD, 42.6% on the fact that it affected both genders, 93.3% on the fact that the disease is caused by the primary deficiency of dystrophin protein. 91.9% of the responders reported that the patients lost the ability to walk around 9-11 years of age. More than 50% of the responders did not have adequate information on the departments that could participate in the management of DMD patients.
Conclusion: This study has evaluated a wide range of physicians playing important roles in the follow-up and management of pediatric patients and has revealed a necessity for improvement in knowledge about genetic and clinical features of DMD and its management via learning.
Anahtar Kelimeler
duchenne muscular dystrophy neuromuscular disease rare disease knowledge attitude
Proje Numarası
Yoktur
Kaynakça
- Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol 2018;17:251-67.
- 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;17:347-61.
- Darras BT, Urion DK, Ghosh PS. Dystrophinopathies. In: Adam MP, Ardinger HH, Pagon RA, et al. eds. GeneReviews®. Seattle (WA): University of Washington, Seattle 2000. PMID: 20301295.
- Ahmed HM, Advani R, Arif AA, Khan S. An Assessment of the Knowledge, Attitudes, and Practices of Patients and Families with Diagnoses of Hereditary Neuromuscular Disorders. Neuroepidemiol 2020;54:265-71.
- Fujino H, Iwata Y, Saito T, Matsumura T, Fujimura H, Imura O. The experiences of patients with Duchenne muscular dystrophy in facing and learning about their clinical conditions. Int J Qual Stud Health Well-being 2016;11:32045.
- Denger B, Kinnett K, Martin A, Grant S, Armstrong C, Khodyakov D. Patient and caregiver perspectives on guideline adherence: the case of endocrine and bone health recommendations for Duchenne muscular dystrophy. Orphanet J Rare Dis 2019;14:205.
- Nozoe KT, Akamine RT, Mazzotti DR, Polesel DN, Grossklauss LF, Tufik S, et al. Phenotypic contrasts of Duchenne Muscular Dystrophy in women: Two case reports. Sleep Sci 2016;9:129-33.
- Ishizaki M, Kobayashi M, Adachi K, Matsumura T, Kimura E. Female dystrophinopathy: Review of current literature. Neuromuscul Disord 2018;28:572-81.
- Eggers S, Pavanello RC, Passos-Bueno MR, Zatz M. Genetic counseling for childless women at risk for Duchenne muscular dystrophy. Am J Med Genet 1999;86:447-53.
- Wong SH, McClaren BJ, Archibald AD, Weeks A, Langmaid T, Ryan MM et al. A mixed methods study of age at diagnosis and diagnostic odyssey for Duchenne muscular dystrophy. Eur J Hum Genet 2015;23:1294-300.
- van Ruiten HJ, Straub V, Bushby K, Guglieri M. Improving recognition of Duchenne muscular dystrophy: a retrospective case note review. Arch Dis Child 2014;99:1074–7.
- Wonkam-Tingang E, Nguefack S, Esterhuizen AI, Chelo D, Wonkam A. DMD-related muscular dystrophy in Cameroon: Clinical and genetic profiles. Mol Genet Genomic Med 2020;8:e1362.
- Yayici Koken O, Gultutan P, Gurkas E, Degerliyurt A. Sleep: How is it affected in patients with DMD and their mothers? Minerva Pediatr [published online ahead of print, 2021 May 31. PMID: 34056890, DOI:10.23736/S2724-5276.21.06281-9
- Venugopal V, Pavlakis S. Duchenne Muscular Dystrophy. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2020 November 19, PMID: 29493971.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Konular | İç Hastalıkları |
| Bölüm | ORIGINAL ARTICLES |
| Yazarlar | |
| Proje Numarası | Yoktur |
| Yayımlanma Tarihi | 7 Temmuz 2022 |
| Gönderilme Tarihi | 28 Temmuz 2021 |
| Yayımlandığı Sayı | Yıl 2022 Cilt: 16 Sayı: 4 |