Orofacial dysfunctions in children and adolescents with myotonic dystrophy type - evaluation and intervention
نویسنده
چکیده
.............................................................................................................................. 5 LIST OF PUBLICATIONS ............................................................................................ 9 INTRODUCTION AND BACKGROUND ................................................................. 11 Myotonic dystrophy type 1 ....................................................................................... 11 Multidisciplinary survey........................................................................................ 12 Characteristic orofacial features ............................................................................ 13 Lip strengthening exercises in DM1...................................................................... 15 Methods for assessment of orofacial functions......................................................... 16 Qualitative assessments ......................................................................................... 16 Quantitative assessments ....................................................................................... 18 Reliability of study results..................................................................................... 18 AIMS............................................................................................................................. 21 METHODS ................................................................................................................... 23 Study population ....................................................................................................... 23 Procedure................................................................................................................... 25 Qualitative assessments ......................................................................................... 26 Quantitative assessments ....................................................................................... 29 Statistical analyses................................................................................................. 31 Estimation of error of methods.............................................................................. 31 RESULTS ..................................................................................................................... 35 Orofacial function in children and adolescents with myotonic dystrophy type 1..... 35 Characteristics and prevalence of oral motor dysfunction .................................... 35 Improvements and deteriorations of orofacial functions....................................... 38 The effect of lip strengthening exercises............................................................... 38 Quantitative methods for assessment of lip mobility and lip force........................... 38 Diagnostic value of quantitative measurements .................................................... 38 Correlations between results from qualitative and quantitative assessments........ 39 DISCUSSION............................................................................................................... 41 Orofacial function in children and adolescents with myotonic dystrophy type 1..... 41 Characteristics and prevalence of oral motor dysfunction .................................... 41 Improvements and deteriorations in orofacial functions....................................... 43 Effect of lip strengthening exercises ..................................................................... 44 Exploration of methods for assessment of lip function............................................. 46 Diagnostic value of quantitative measurements .................................................... 47 Correlations between results from qualitative and quantitative assessments........ 47 Methodological limitations ....................................................................................... 47 Clinical implications and future research.................................................................. 48 CONCLUSIONS........................................................................................................... 49 ACKNOWLEDGEMENTS.......................................................................................... 51 REFERENCES ............................................................................................................. 53 SUMMARY IN SWEDISH.......................................................................................... 61
منابع مشابه
Genotype–Phenotype Correlations in Iranian Myotonic Dystrophy Type I Patients
Objectives: Myotonic Dystrophy type I (DM1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. DM1 is associated with the expansion and instability of CTG repeat in the 3chr('39') untranslated region of the myotonic dystrophy protein kinase (DMPK) gene located on chromosome 19q13.3. The aim of this study w...
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Myotonic dystrophy (DM) is a neuromuscular disorder caused by an expansion of a CTG repeat sequence on chromosome 19q13. The aim of the present study was to describe the characteristics and prevalence of oral motor dysfunction in a cohort of children and adolescents with DM and to correlate different aspects of oral motor function with the type of DM and sex. Fifty-six individuals with DM (30 m...
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OBJECTIVE Myotonic dystrophy type 1 (DM1) is a slowly progressive neuromuscular disease. Most children and adolescents with DM1 have weak lips and impaired lip function. The primary aim of the present study was to investigate if regular training with an oral screen could strengthen the lip muscles in children and adolescents with DM1. If lip strength improved, a secondary aim would be to see if...
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