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Official Journal of the , , , ,
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Indexed/Abstracted in: CINAHL, Current Contents/Clinical Medicine, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 2,063
Online ISSN 1973-9095
From the Division of Rehabilitative Medicine Valduce Hospital, Como, Italy Rehabilitation Centre “Villa Beretta” Costa Masnaga (Lecco), Italy
Background. The timely diagnosis and the definition of the grade of respiratory insufficiency in individuals affected with Duchenne Muscular Dystrophy (DMD) is hindered by the complex clinical and functional condition of these patients and by the relative rarity of the disease which means that physicians do not always have an in-depth knowledge of these problems. For the same reasons difficulties are encountered in accomplishing adequate follow-up during the progression of the respiratory function, in introducing significant and timely treatment (usually some form of assisted mechanical ventilation) and in monitoring the effectiveness of the same. The aim of this study is to define the diagnostic value and the prognostic reliability of several methods of functional assessment and to recognise their limitations in relation to progressive ventilatory and respiratory insufficiency; proposing, if possible, an optimum diagnostic path.
Methods. The results of functional tests carried out over a period of more than 15 years on 153 DMD patients were analysed. The data, gathered over the course of over 700 hospitalisations for diagnostic-therapeutic reasons, refer to 658 spirometries, 695 oximetries during sleep, 596 measurements of Pimax and 350 of Pemax, 453 haemogas analyses. The results of the different tests were grouped on the basis the subjects’ age in a continuum of between the ages of 11 and 31. Means and standard deviations were calculated, for each age group, from values recorded in the respiratory function tests most commonly used in the study of these patients. On this basis, graphs were plotted that illustrate the trend over time of the mean values of VC, VC%, MVV, MVV%, Pimax, Pemax, PaO2 and PaCO2.
Results. By comparing the evolution of the data collected over time and relating it to the basic disease, the progressive deterioration of the respiratory function was confirmed: the diagnostic-prognostic significance of the individual tests was also verified as well as how the latter changes at different ages. In this way the most appropriate tests were identified on the basis of the stage of progression as well as those with lesser significance. Moreover, from the analysis of the graphic plots of nocturnal oximetries it was possible to distinguish which patients had normal sleep patterns, which demonstrated initial nocturnal hypoventilation and which patients suffered from chronic nocturnal hypoventilation: these groups recorded different concentrations at different ages and confirmed not only the progressive deterioration of ventilation during sleep but also the diagnostic and prognostic usefulness of the test.
Conclusions. Respiratory function assessment of these patients is particularly justified from the age of 11-12 years; between the ages of 11 and 20, VC values, in particular VC%, and Pimax values are useful to determine the residual validity of the ventilation pump. Haemogas analysis, already known to be useful after the age of 17-18, becomes a guiding criteria in respiratory function testing after the age of 20. Studying sleep patterns using oximetries is useful from the age of 13 and vital after the age of 15 in subjects that do not have nocturnal ventilatory assistance whilst it represents a valid confirmation of the effectiveness of the treatment in assisted patients.