Wasilewska Eliza, Wasilewski Andrzej, Pilarska Ewa, Wierzba Jolanta, Małgorzewicz Sylwia, Niedoszytko Marek
Department of Allergology, Medical University of Gdansk, 80-210, Gdansk, Poland.
Student Scientific Association of Medical Chemistry and Immunochemistry Wroclaw, Medical University Ul, M. Skłodowskiej-Curie 48/50 59-369, Wroclaw, Poland.
Orphanet J Rare Dis. 2025 Jun 5;20(1):280. doi: 10.1186/s13023-025-03762-9.
Duchenne muscular dystrophy (DMD) is a progressive genetic disease that leads to degeneration of muscles, including respiratory muscles, and requires early introduction of non-invasive ventilation (NIV). Parental knowledge and management strategies for pulmonary care are essential when respiratory function is compromised, particularly in conditions involving sleep apnea and the progression of chronic respiratory failure. The aim of this study was to assess parental knowledge of key aspects of pulmonary care in DMD and to identify knowledge gaps that may influence therapeutic decisions.
A cross-sectional survey was conducted as part of the multidisciplinary care program for DMD at the Center for Rare Diseases in Gdańsk, accredited by the World Duchenne Organization. The questionnaire assessed (1) demographic and clinical details, (2) pulmonary healthcare practices, (3) understanding of pulmonary rehabilitation, (4) knowledge about NIV, and (5) sources of information on respiratory care.
The study included 111 parents (F/M 83/28, mean age 45.5 ± 6.75 years) of 111 children with DMD (all male, mean age 11.5 ± 5.45 years; 38% non-ambulatory). The majority of individuals (77.5%) regularly visited a pulmonary specialist with spirometry performed. Most parents reported satisfactory knowledge about respiratory issues in DMD but 77% of them reported insufficient knowledge about NIV (Chi = 53.4, df = 12, p = 0.00). Only 11% weren't afraid to use NIV in the future, while 73% were afraid because of a lack of or inaccurate information. Physicians were the primary source of knowledge for pulmonary care, while the internet and peer experiences were rarely used.
The majority of parents of children with DMD understand the basics of pulmonary problems. A significant information gap exists concerning advanced respiratory interventions such as non-invasive ventilation (NIV). This leads to anxiety among parents and impairs therapeutic decision-making, delaying appropriate treatment including respiratory support. There is a need for respiratory education programmes for parents and patients, especially as the estimated longer survival time for patients with DMD will make respiratory challenges even more significant.
杜氏肌营养不良症（DMD）是一种进行性遗传疾病，会导致包括呼吸肌在内的肌肉退化，需要尽早引入无创通气（NIV）。当呼吸功能受损时，尤其是在涉及睡眠呼吸暂停和慢性呼吸衰竭进展的情况下，家长对肺部护理的知识和管理策略至关重要。本研究的目的是评估家长对DMD肺部护理关键方面的了解，并识别可能影响治疗决策的知识差距。
作为格但斯克罕见病中心DMD多学科护理项目的一部分，开展了一项横断面调查，该中心获得了世界杜氏组织的认可。问卷评估了（1）人口统计学和临床细节，（2）肺部医疗保健实践，（3）对肺康复的理解，（4）关于无创通气的知识，以及（5）呼吸护理的信息来源。
该研究纳入了111名DMD患儿的家长（女/男83/28，平均年龄45.5±6.75岁），这些患儿均为男性（平均年龄11.5±5.45岁；38%不能行走）。大多数人（77.5%）定期拜访肺科专家并进行肺活量测定。大多数家长报告称对DMD的呼吸问题有满意的了解，但77%的家长报告对无创通气的了解不足（卡方值=53.4，自由度=12，p=0.00）。只有11%的家长不担心未来使用无创通气，而73%的家长因信息不足或不准确而担心。医生是肺部护理知识的主要来源，而互联网和同伴经验很少被使用。
大多数DMD患儿的家长了解肺部问题基础知识。在诸如无创通气（NIV）等先进呼吸干预措施方面存在显著的信息差距。这导致家长焦虑并损害治疗决策，延误包括呼吸支持在内的适当治疗。需要为家长和患者开展呼吸教育项目，特别是因为预计DMD患者的生存时间延长将使呼吸挑战更加严峻。
