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Master Thesis

Enquête sur l’exhaustivité du suivi multidisciplinaire de patients adultes atteints de dystrophie myotonique de type 1 dans le Sud Aquitain

Abstract : Introduction: DM1 represents the most frequent form of myopathy in adults, and is characterized by multisystemic involvement requiring regular, comprehensive, and coordinated multidisciplinary monitoring. Recently, american and spanish recommendations concerning this follow-up have been published. Objective: to determine, among adult DM1 patients followed in Neuromuscular Competence Centers in Sud Aquitaine, the proportion benefiting from medical follow-up in line with the recommendations. Methods: we carried out a descriptive cross-sectional survey by telephone questionnaire among adult DM1 patients and their primary caregiver. This questionnaire was established by choosing the most rigorous follow-up of each item resulting from these two recommendations. The inclusion criteria were: patient with genetically proven DM1, adult, having given his consent to participate in the study. Results: out of 89 adult patients followed in our cohort, 73 could be included, of which 55% were women; the average age was 48 years, and the average number of CTG repeats was 467. The proportion of patients receiving clinical follow\u0002up in accordance with the recommendations was 60% in neurology, 90% in cardiology, 23% in pulmonology, 68 % in ophthalmology, and 12% in physical medicine and rehabilitation; 53% received at least weekly physiotherapy, 18% had annual occupational therapy follow-up, and 12% received speech therapy at least once a year. 37% of respondents had already consulted a hepato-gastroenterologist, 47% a mental health professional, and 15% had already undergone a neuropsychological assessment. The proportion of patients receiving paraclinical examinations as recommended was 90% for ECG, 84% for echocardiography, 73% for Holter-ECG, 16% for spirometry, and about 65% for biological plan. Discussion: the high rate of neurological, cardiological, and ophthalmological monitoring could be explained by a locally dense medical demography allowing privileged access to care. While the causes of the deficiencies in pulmonary, rehabilitation, digestive and neuropsychological follow-up still have to be precisely determined, a lack of knowledge of the pathology as well as reduced compliance due to frequent cognitive disorders could be involved. The results should be taken with caution as this is a declarative study. Conclusion: there are significant disparities in the exhaustivity of multidisciplinary follow-up for DM1. These results highlight the major role of multidisciplinary monitoring coordination, and should lead to changes in practices.
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Master Thesis
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Submitted on : Wednesday, April 28, 2021 - 5:47:09 PM
Last modification on : Thursday, May 13, 2021 - 3:18:15 AM
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  • HAL Id : dumas-03211527, version 1



Thomas Bisson. Enquête sur l’exhaustivité du suivi multidisciplinaire de patients adultes atteints de dystrophie myotonique de type 1 dans le Sud Aquitain. Médecine humaine et pathologie. 2021. ⟨dumas-03211527⟩



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