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G.P.178
Abstracts / Neuromuscular Disorders 24 (2014) 791–924 criteria in diagnosing constipation. (1) Constipation is a common co-morbidity in DMD, irrespective of age or the stage of disease. (2) Of the tests evaluated, the Rome III criteria may be the most appropriate screening tool for constipation in DMD patients. (3) Constipation in this cohort was underdiagnosed and either not treated or treated inadequately. http://dx.doi:10.1016/j.nmd.2014.06.219
G.P.178 BMI but not height correlates with timed motor function tests of DMD patients on long term daily glucocorticoid therapy B.L. Wong 1, H.N. Lee 2, P. Horn 1, S.Y. Hu 1, J. Bange 1, B. Godshall 1, I. Rybalsky 1 1 Cincinnati Children’s Hospital Medical Center, Cincinnati, USA; 2 Severance Children’s Hospital, Seoul, Republic of Korea DMD patients on long term daily glucocorticoid (GC) therapy are at risk for excessive weight gain and linear growth failure. The impact of excessive weight gain and short stature on motor function is unclear. Objective: To evaluate height, weight and BMI of DMD patients on long term glucocorticoid therapy; and to study the correlation of height, weight and BMI with timed motor function. Cross-sectional retrospective case series review of GC treated DMD patients Results: 110 males aged 7 to 613 years were treated with daily GC for 4.8 ± 1.5 years and followed at our clinic for 4.8 ± 1.6 years. 7.3% were on metformin for insulin resistance and 17.3% were on growth hormone for growth failure. There was no excessive weight growth in 62% of patient; observed weight %tiles vs normal weight %tiles had a correlation coefficient, r > 0.99. 61% of patients had heights <3rd%tile (53% of 7– < 10 years old; 74% of >10 years old). 26% of patients were overweight (BMI 85th 95th %tile) and 34% were obese (BMI > 95th %tile). Height %tiles were not correlated with timed 30 foot run (run), Gower (G) and North Star Ambulatory Assessment (NSAA) Scores. Weight %tiles correlated positively with times for G (p 0.027) and negatively with NSAA (p 0.004). BMI %tiles correlated positively with times for run (p 0.011) and G (p 0.005); and negatively with NSAA (p 0.0009). The weight and BMI correlations were stronger for patients older than 10 years of age. The mean NSAA score and times for run and Gower for the overweight and obese patients (BMI > 85th %tile) reflected worse motor function than patients with normal BMI < 85th %tiles (Run p 0.011; G p 0.013; NSAA p 0.004). For daily GC treated DMD patients, excessive weight gain is not a complication in 62%; short stature <3rd %tile is seen 61% and BMI in the overweight and obesity range occurs in 60%. Increased weight %tile and BMI %tile correlates negatively with motor function while height does not appear to do so. http://dx.doi:10.1016/j.nmd.2014.06.220
G.P.179 Association between resting energy expenditure and body weight change in patients with Duchenne muscular dystrophy S. Baba, S. Takanoha, A. Ishiyama, H. Komaki, E. Takeshita, H. Imaizumi, Y. Abe, M. Kobayashi, Y. Kumazawa, M. Sasaki National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan Duchenne muscular dystrophy (DMD) patients are at risk of significant weight change relating to several factors. However, the relationship between body weight and calorie requirement during each stage of the disease is not known. The purpose of this study was to
859
explore the appropriate nutritional management of DMD patients. Retrospective data from 28 DMD patients (mean age 20.6 ± 3.5 years) was assessed withrespect to body weight (BW), resting energy expenditure (REE), and assessment of respiratory and circulatory functions, which were conducted during annual examinations for at least 3 years. Based on the annual change in BW, 76 events were obtained from 28 patients and classified into 3 groups: (1) gain in BW of >10% (n = 5); (2) loss in BW of >10% (n = 10); and (3) no change (n = 61). REE was measured by indirect calorimetry, and the change in REE was evaluated for each group. Clinical features, including respiratory and circulatory functions, were also evaluated. Prior to this study, REE in groups 1 (BW gain), 2 (BW loss), and 3 (no change) were not significantly different (1 115,7, 1 077,5, and 1 144,2 kcal/d, respectively). Analyses of annual change in REE among each group also failed to show significant differences. The study revealed that calorie requirements did not change in group 2 (BW loss). This group also developed severe clinical complications, reduced dietary intake due to infection (4/10), cerebral infarction (2/10), and heart failure (2/10); however, no such complications developed in the other groups. The loss of BW led to a further BW decrease in the absence of appropriate nutritional intervention, due to higher calorie requirements than predicted from BW (3/10). To conclude, the daily calorie requirement did not change with a gain or loss of BW. It is possible that loss of BW lead to severe complication in DMD patients. It may be required for comprehensive care to apply nutritional support as nutritional supplements and respiratory support. http://dx.doi:10.1016/j.nmd.2014.06.221
G.P.180 Evaluation of cardiologic status in carriers of Duchenne Muscular Dystrophy A. Schoenecker, J. Schelhorn, T.W. Schlosser, U. Neudorf, U. Schara University Hospital of Essen, Essen, Germany With an incidence of 1:5000 male newborns, Duchenne muscular Dystrophy (DMD) is the most common hereditary muscular disorder. Cardiac involvement (e.g. dilated cardiomyopathy) is well known in DMD patients. Since described as an X-linked recessive disorder, women can be identified as carriers for DMD. Our objective was to characterize cardiac findings in a defined group of genetically confirmed DMD carriers. Monocentric, prospective, non-randomized, cross-sectional study, n = 16 aged 15–54 years. The women had a physical examination for anthropometric data (BP, BMI, etc.) and MRC testing for muscular strength. Cardiologic examination included NYHA classification, 6MWT, 12 lead ECG, Holter ECG, echocardiography and cardiac MRI (function, late gadolinium enhancement (LGE)). Results: 8/10 women showed walking distances below average in 6MWT despite NYHA Class I in all cases and 5/5 points in MRC testing. 12/16 women showed negative ST-segments in right precordial leads, polymorphic premature supra-/ ventricular beats (12 lead and Holter ECG). Echocardiography was suspicious in 18, 8% with reduced shortening fraction or regurgitation in mitral/tricuspid valve. Cardiac MRI showed LGE in 56%, 73% had normalized LV endsystolic volume above average, 20% LV enddiastolic volume below average, and reduced EF in 33%. The left ventricular mass was reduced in all women. Conclusion: Despite the lack of clinical problems and only minor abnormal findings in physical evaluation, all DMD carriers show pathologies in either ECG, echo or cardiac MRI (or all of the above). Findings need further evaluation and are not related to age; therefore we suggest cardiac exams (incl.cardiac MRI + LGE) once per year starting at the time of positive molecular analysis for DMD carrier status. Establishing a register for DMD carriers should be the next step
G.P.178 BMI but not height correlates with timed motor function tests of DMD patients on long term daily glucocorticoid therapy B.L. Wong 1, H.N. Lee 2, P. Horn 1, S.Y. Hu 1, J. Bange 1, B. Godshall 1, I. Rybalsky 1 1 Cincinnati Children’s Hospital Medical Center, Cincinnati, USA; 2 Severance Children’s Hospital, Seoul, Republic of Korea DMD patients on long term daily glucocorticoid (GC) therapy are at risk for excessive weight gain and linear growth failure. The impact of excessive weight gain and short stature on motor function is unclear. Objective: To evaluate height, weight and BMI of DMD patients on long term glucocorticoid therapy; and to study the correlation of height, weight and BMI with timed motor function. Cross-sectional retrospective case series review of GC treated DMD patients Results: 110 males aged 7 to 613 years were treated with daily GC for 4.8 ± 1.5 years and followed at our clinic for 4.8 ± 1.6 years. 7.3% were on metformin for insulin resistance and 17.3% were on growth hormone for growth failure. There was no excessive weight growth in 62% of patient; observed weight %tiles vs normal weight %tiles had a correlation coefficient, r > 0.99. 61% of patients had heights <3rd%tile (53% of 7– < 10 years old; 74% of >10 years old). 26% of patients were overweight (BMI 85th 95th %tile) and 34% were obese (BMI > 95th %tile). Height %tiles were not correlated with timed 30 foot run (run), Gower (G) and North Star Ambulatory Assessment (NSAA) Scores. Weight %tiles correlated positively with times for G (p 0.027) and negatively with NSAA (p 0.004). BMI %tiles correlated positively with times for run (p 0.011) and G (p 0.005); and negatively with NSAA (p 0.0009). The weight and BMI correlations were stronger for patients older than 10 years of age. The mean NSAA score and times for run and Gower for the overweight and obese patients (BMI > 85th %tile) reflected worse motor function than patients with normal BMI < 85th %tiles (Run p 0.011; G p 0.013; NSAA p 0.004). For daily GC treated DMD patients, excessive weight gain is not a complication in 62%; short stature <3rd %tile is seen 61% and BMI in the overweight and obesity range occurs in 60%. Increased weight %tile and BMI %tile correlates negatively with motor function while height does not appear to do so. http://dx.doi:10.1016/j.nmd.2014.06.220
G.P.179 Association between resting energy expenditure and body weight change in patients with Duchenne muscular dystrophy S. Baba, S. Takanoha, A. Ishiyama, H. Komaki, E. Takeshita, H. Imaizumi, Y. Abe, M. Kobayashi, Y. Kumazawa, M. Sasaki National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan Duchenne muscular dystrophy (DMD) patients are at risk of significant weight change relating to several factors. However, the relationship between body weight and calorie requirement during each stage of the disease is not known. The purpose of this study was to
859
explore the appropriate nutritional management of DMD patients. Retrospective data from 28 DMD patients (mean age 20.6 ± 3.5 years) was assessed withrespect to body weight (BW), resting energy expenditure (REE), and assessment of respiratory and circulatory functions, which were conducted during annual examinations for at least 3 years. Based on the annual change in BW, 76 events were obtained from 28 patients and classified into 3 groups: (1) gain in BW of >10% (n = 5); (2) loss in BW of >10% (n = 10); and (3) no change (n = 61). REE was measured by indirect calorimetry, and the change in REE was evaluated for each group. Clinical features, including respiratory and circulatory functions, were also evaluated. Prior to this study, REE in groups 1 (BW gain), 2 (BW loss), and 3 (no change) were not significantly different (1 115,7, 1 077,5, and 1 144,2 kcal/d, respectively). Analyses of annual change in REE among each group also failed to show significant differences. The study revealed that calorie requirements did not change in group 2 (BW loss). This group also developed severe clinical complications, reduced dietary intake due to infection (4/10), cerebral infarction (2/10), and heart failure (2/10); however, no such complications developed in the other groups. The loss of BW led to a further BW decrease in the absence of appropriate nutritional intervention, due to higher calorie requirements than predicted from BW (3/10). To conclude, the daily calorie requirement did not change with a gain or loss of BW. It is possible that loss of BW lead to severe complication in DMD patients. It may be required for comprehensive care to apply nutritional support as nutritional supplements and respiratory support. http://dx.doi:10.1016/j.nmd.2014.06.221
G.P.180 Evaluation of cardiologic status in carriers of Duchenne Muscular Dystrophy A. Schoenecker, J. Schelhorn, T.W. Schlosser, U. Neudorf, U. Schara University Hospital of Essen, Essen, Germany With an incidence of 1:5000 male newborns, Duchenne muscular Dystrophy (DMD) is the most common hereditary muscular disorder. Cardiac involvement (e.g. dilated cardiomyopathy) is well known in DMD patients. Since described as an X-linked recessive disorder, women can be identified as carriers for DMD. Our objective was to characterize cardiac findings in a defined group of genetically confirmed DMD carriers. Monocentric, prospective, non-randomized, cross-sectional study, n = 16 aged 15–54 years. The women had a physical examination for anthropometric data (BP, BMI, etc.) and MRC testing for muscular strength. Cardiologic examination included NYHA classification, 6MWT, 12 lead ECG, Holter ECG, echocardiography and cardiac MRI (function, late gadolinium enhancement (LGE)). Results: 8/10 women showed walking distances below average in 6MWT despite NYHA Class I in all cases and 5/5 points in MRC testing. 12/16 women showed negative ST-segments in right precordial leads, polymorphic premature supra-/ ventricular beats (12 lead and Holter ECG). Echocardiography was suspicious in 18, 8% with reduced shortening fraction or regurgitation in mitral/tricuspid valve. Cardiac MRI showed LGE in 56%, 73% had normalized LV endsystolic volume above average, 20% LV enddiastolic volume below average, and reduced EF in 33%. The left ventricular mass was reduced in all women. Conclusion: Despite the lack of clinical problems and only minor abnormal findings in physical evaluation, all DMD carriers show pathologies in either ECG, echo or cardiac MRI (or all of the above). Findings need further evaluation and are not related to age; therefore we suggest cardiac exams (incl.cardiac MRI + LGE) once per year starting at the time of positive molecular analysis for DMD carrier status. Establishing a register for DMD carriers should be the next step