Assessment of follow-up quality and compliance in patients with Duchenne Muscular Dystrophy and Becker Muscular Dystrophy

Objective: Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) are among the most common muscle diseases. The frequency has been reported as 1: 3500 live male births. (1) It is a X linked disorder and is an important cause of morbidity and mortality especially for boys. (2) The disease, which is caused by the gene defect encoding the dystrophin protein in the muscle membrane, causes progressive muscle degeneration and this is a progressive clinical course, loosing the ability to walk and self- care, affects cardiac, respiratory, skeletal, endocrine, gastroenterological, psychological systems and requires a multidisciplinary approach reflected as the situation. (6) Due to it's progressive course and accompanying comorbidities, cases are lost at an early age. Parents who provide primary care services to the cases at home should be conscious and well informed about the disease process, possible additional diseases, preventive services and issues to be considered. The aim of this study is to evaluate Duchenne Muscular Dystrophy and Becker Muscular Dystrophy patients regarding coming to follow-up together with their families, applying the recommended treatments regularly, families' knowledge and awareness about diseases and comorbidities, preventive medicine such as vaccines and anesthesia practices. Materials and Method: The files of 61 cases with Duchenne Muscular Dystrophy and Becker Muscular Dystrophy aged 0-20 years, diagnosed between between 01.01.2008 and 01.05.2017 in our pediatric neurology outpatient clinic were retrospectively evaluated and the families were contacted by phone to inquire about the family's information about the disease and to evaluate the appropriateness of follow-up. The questionnaire prepared by scanning the literature and examining accepted current administrations was applied. The follow-up of the patients was confirmed by examining their files, arrival dates on the DEUTF hospital system, the units they applied to, and the laboratory results. The information obtained from the survey application was compared with the existing data. The data of the cases were analyzed using the SPSS 24 program, and the frequency and percentage information were tabulated. In addition, cross-tables were created using the comparative feature of the program and cross-sectional descriptive results were obtained in which the cases were evaluated in terms of current symptoms, findings, compliance with follow-up, and the level of knowledge of families. Results: It was found that 100% of the evaluated cases were male, the average age was 8,93 years (the youngest 8 months, the oldest 20 years), the average age at diagnosis was 3.27 years (the youngest 8 months, the oldest 10 years), and 95.1% (n:58) were diagnosed until the age of 7. 73.8% (n:45) of the cases were diagnosed with DMD and 26.2% (n:16) with BMD. It was found that 4.9% (n:3) of the cases were presymptomatic, 31.2% (n:19) early ambulatory, 36.1% (n:22) late ambulatory, 21.3% (n:13) early non-ambulatory, 6.6% (n:4) late non-ambulatory stage. The availability of family information about the necessity of motor function tests tests was 39.3% (n: 24), MF tests were performed appropriately in 55.7% (n: 34) of the cases. The availability of family information about the necessity of cardiac tests were 29.5% (n:18), ECHO follow-ups were insufficient with 87.2% (n: 34 out of 39) from the late ambulatory stage, cardiac MRI was not applied to any case, cardiac medication rate was determined to be 5% (n: 2). It was found that the rate of knowledge of the families of the cases about the necessity of respiratory function tests was 54.1% (n: 33), and none of the cases received NIV support. The ratio of families of the cases who have information about endocrine emergencies was 36% (n: 22), it was determined that no family had hydrocortisone preparations for emergency use. It was found that childhood vaccines were applied to all cases completely, but 72.4% (n: 21) of the cases who received corticosteroid treatment were not immunized with influenza vaccine, and 75.9 (n: 22) were not immunized with pneumococcal vaccine. The rate of families having information about the drawbacks of applying depolarizing anesthetics was 80.3%. (n: 49) 100% (n: 3) of the families of the cases in the presymptomatic stage were not informed about this issue. The rate of applying regular psychiatric and cognitive evaluations was 45.9% (n: 28), the presence of family information about the need for evaluations was 32.7% (n: 20), and the total psychiatric medication use rate was 4.9%. (n: 3) Conclusion: Most of the patients with muscular dystrophy have a progressive course, loose the ability to walk and self-care and are affected by cardiac, respiratory, skeletal, endocrine, gastroenterological, psychological systems. They require a multidisciplinary approach, especially cases with DMD are lost at an early age due to high rates of serious complications. Parents who provide care services to the cases should be conscious about the disease process, possible additional diseases, preventive services and the issues they should pay attention to. In our study, when the knowledge of families about the follow-up of the disease was evaluated, many deficiencies were detected. In the follow-up of this disease group, which requires a multidisciplinary approach, families are given more responsibility than they can take, families have incomplete and incorrect informations about the administrations, necessity of follow-up and treatment. Due to this inconveniences, necessary applications cannot be made on time, complications that could be taken are overlooked, problems are experienced in treatment practices which causes decrease in the quality of life of the cases. It was suggested that the quality of treatment and follow-up would be improved by increasing the knowledge level of families. Establishment of neuromuscular services throughout our country has become mandatory.