- Email: [email protected]
Sleep related breathing abnormalities in children with Duchenne muscular dystrophy (DMD)
Oral Presentations / Paediatric Respiratory Reviews 11S1 (2010) S1–S78
lower airways of infants with respiratory syncytial virus infection. Am J Respir Crit Care Med 172:233–237. [3] Mothasham, L., Auais, A., and Piedimonte, G. 2007. Nerve growth factor mediates steroid-resistant inflammation in respiratory syncytial virus infection. Pediatr Pulmonol 42:496–504. [4] Othumpangat, S., Walton, C., Samsell, L., and Piedimonte, G. 2010. NGF regulates the expression of ICAM-1 in human airway epithelial cells during Rhinovirus-16 infection. Am J Respir Crit Care Med in press. [5] Cardenas, S., Scuri, M., Samsell, L., Ducatman, B., Bejarano, P., Auais, A., Doud, M., Mathee, K., and Piedimonte, G. 2010. Neuroimmune responses to early-life Pseudomonas aeruginosa infection in rat lungs. Am J Respir Crit Care Med in press.
60
SMA 50
IVC (% pred.)
S38
40
30
20
10
0
Plenary Session 14:10–15:10
Room A
O.14.1 Cough insufficiency is more pronounced in spinal muscular atrophy than in Duchenne muscular dystrophy F. Stehling, C. Dohna-Schwake, M. Wolf, U. Mellies. University Hospital Essen Department of Pediatric Pulmonology – Essen, Germany Introduction: Respiratory failure in neuromuscular disease (NMD) usually occurs during respiratory infection. The risk to develop pneumonia and/or atelectasis increases gradually with decreasing peak cough flow (PCF). The most frequent NMD are Duchenne Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA). Clinically patients with SMA are more endangered to develop severe chest infection than patients with DMD. As PCF <160 l/min is known to predict pneumonia, we hypothesize that PCF of patients with SMA is lower than that of DMD. Methods: In 43 DMD patients (16.6±3.7 years) and 27 patients with SMA (12.4±4.5 years, p < 0.01) with inspiratory vital capacity (IVC) <60% predicted determined with a hand-held spirometer (ZAN 100, ZAN Meßgeraete, Obertulba, Germany) we measured PCF with a peak flow meter (PocketpeakTM, Ferraris Medical Ltd., Enfield, UK). Beside descriptive statistics we calculated Pearson correlation coefficient r and sensitivity/specificity employing receiver operator curves (ROC). Results: IVC did not differ in DMD and SMA group (32±14 vs 29±14% predicted, p > 0.05). PCF was significantly lower in SMA than in DMD (124±42 vs. 195±71 l/min, p < 0.01). Correlation between IVC and PCF was significant in DMD− (r = 0.50) and SMA-patients (r = 0.76), respectively. In DMD patients IVC less than of 24% predicted had a sensitivity of 64.3% and specificity of 85.7% to result in a PCF <160 l/min. (AUC 0.85) (Figure 1). For SMA patients IVC less than 33% predicted had a sensitivity of 84.2% and specificity of 100% to result in a PCF <160 l/min (AUC 0.975) (Figure 2). 60
DMD
IVC (% pred.)
50
40
30
20
10
0 0
PCF<160 l/min
PCF > 160 l/min
Figure 2.
Young Investigator Presentations
Figure 1.
0
PCF < 160 l/min
PCF >160 l/min
Conclusions: The present study proved that PCF impairment is gaining earlier importance in the course of SMA compared to DMD. As IVC did not differ and correlation to IVC was good in DMD and SMA group, the weaker PCF in SMA is the result of expiratory muscle weakness. We claim that in SMA special attention has to be paid to insufficiency of cough. PCF should be measured routinely in all patients with SMA and a vital capacity below 40% predicted. O.14.2 Sleep related breathing abnormalities in children with Duchenne muscular dystrophy (DMD) L. Thampratankul1 , H. Sawnani1 , B. Wong2 , N. Simakajornboon1 . 1 Cincinnati Children’s Hospital Medical Center Pulmonary – Cincinnati, OH, USA; 2 Cincinnati Children’s Hospital Medical Center Neurology – Cincinnati, OH, USA Sleep disordered breathing (SDB) is relatively common in patients with DMD with advance disease. However, there is limited information on sleep related breathing abnormalities in young children with DMD. We conducted a retrospective review of overnight sleep study and medical records of children with DMD. Only children ≤15 years of age were included in the study. Most children at our multidisciplinary neuromuscular program have baseline sleep study at the early age as part of the comprehensive evaluation. Children with other co-existing conditions such as cardiomyopathy were excluded from the study. A total of 101 children with DMD met criteria for entry into analysis. The average age was 10.3±2.6 years old. Most children were asymptomatic, 35.6% (36/101) of children with DMD reported symptoms of snoring; 2% (2/101) of them reported respiratory pauses during sleep. From polysomnographic studies, 61.4% (62/101) had sleep-related respiratory abnormalities, 50.5% (51/101) had obstructive sleep apnea, 10.9% (11/101) had central sleep apnea, and 14.9% (15/101) had significant hypoventilation. There was no significant difference in sleep efficiency (75.7±12.6%[S] vs 75.8±14.9%, P = NS), arousal index (9.9±4.2/hr [S] vs 10.6±6.4/hr, P = NS) or percentage of REM sleep (9.9±4.2% [S] vs 10.6±6.4%, P = NS) between DMD children with (S) and without (C) SDB. Sleep disordered breathing is common in asymptomatic children with DMD even at the early age. SDB in children with DMD is not associated with significant change in sleep architecture. We speculate that SDB in children with DMD at the early age will have an adverse effect on overall clinical outcomes. This study emphasizes the need for early detection and early intervention of SDB in this population. The study is supported by the Cincinnati Children’s Hospital Research Fund.
lower airways of infants with respiratory syncytial virus infection. Am J Respir Crit Care Med 172:233–237. [3] Mothasham, L., Auais, A., and Piedimonte, G. 2007. Nerve growth factor mediates steroid-resistant inflammation in respiratory syncytial virus infection. Pediatr Pulmonol 42:496–504. [4] Othumpangat, S., Walton, C., Samsell, L., and Piedimonte, G. 2010. NGF regulates the expression of ICAM-1 in human airway epithelial cells during Rhinovirus-16 infection. Am J Respir Crit Care Med in press. [5] Cardenas, S., Scuri, M., Samsell, L., Ducatman, B., Bejarano, P., Auais, A., Doud, M., Mathee, K., and Piedimonte, G. 2010. Neuroimmune responses to early-life Pseudomonas aeruginosa infection in rat lungs. Am J Respir Crit Care Med in press.
60
SMA 50
IVC (% pred.)
S38
40
30
20
10
0
Plenary Session 14:10–15:10
Room A
O.14.1 Cough insufficiency is more pronounced in spinal muscular atrophy than in Duchenne muscular dystrophy F. Stehling, C. Dohna-Schwake, M. Wolf, U. Mellies. University Hospital Essen Department of Pediatric Pulmonology – Essen, Germany Introduction: Respiratory failure in neuromuscular disease (NMD) usually occurs during respiratory infection. The risk to develop pneumonia and/or atelectasis increases gradually with decreasing peak cough flow (PCF). The most frequent NMD are Duchenne Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA). Clinically patients with SMA are more endangered to develop severe chest infection than patients with DMD. As PCF <160 l/min is known to predict pneumonia, we hypothesize that PCF of patients with SMA is lower than that of DMD. Methods: In 43 DMD patients (16.6±3.7 years) and 27 patients with SMA (12.4±4.5 years, p < 0.01) with inspiratory vital capacity (IVC) <60% predicted determined with a hand-held spirometer (ZAN 100, ZAN Meßgeraete, Obertulba, Germany) we measured PCF with a peak flow meter (PocketpeakTM, Ferraris Medical Ltd., Enfield, UK). Beside descriptive statistics we calculated Pearson correlation coefficient r and sensitivity/specificity employing receiver operator curves (ROC). Results: IVC did not differ in DMD and SMA group (32±14 vs 29±14% predicted, p > 0.05). PCF was significantly lower in SMA than in DMD (124±42 vs. 195±71 l/min, p < 0.01). Correlation between IVC and PCF was significant in DMD− (r = 0.50) and SMA-patients (r = 0.76), respectively. In DMD patients IVC less than of 24% predicted had a sensitivity of 64.3% and specificity of 85.7% to result in a PCF <160 l/min. (AUC 0.85) (Figure 1). For SMA patients IVC less than 33% predicted had a sensitivity of 84.2% and specificity of 100% to result in a PCF <160 l/min (AUC 0.975) (Figure 2). 60
DMD
IVC (% pred.)
50
40
30
20
10
0 0
PCF<160 l/min
PCF > 160 l/min
Figure 2.
Young Investigator Presentations
Figure 1.
0
PCF < 160 l/min
PCF >160 l/min
Conclusions: The present study proved that PCF impairment is gaining earlier importance in the course of SMA compared to DMD. As IVC did not differ and correlation to IVC was good in DMD and SMA group, the weaker PCF in SMA is the result of expiratory muscle weakness. We claim that in SMA special attention has to be paid to insufficiency of cough. PCF should be measured routinely in all patients with SMA and a vital capacity below 40% predicted. O.14.2 Sleep related breathing abnormalities in children with Duchenne muscular dystrophy (DMD) L. Thampratankul1 , H. Sawnani1 , B. Wong2 , N. Simakajornboon1 . 1 Cincinnati Children’s Hospital Medical Center Pulmonary – Cincinnati, OH, USA; 2 Cincinnati Children’s Hospital Medical Center Neurology – Cincinnati, OH, USA Sleep disordered breathing (SDB) is relatively common in patients with DMD with advance disease. However, there is limited information on sleep related breathing abnormalities in young children with DMD. We conducted a retrospective review of overnight sleep study and medical records of children with DMD. Only children ≤15 years of age were included in the study. Most children at our multidisciplinary neuromuscular program have baseline sleep study at the early age as part of the comprehensive evaluation. Children with other co-existing conditions such as cardiomyopathy were excluded from the study. A total of 101 children with DMD met criteria for entry into analysis. The average age was 10.3±2.6 years old. Most children were asymptomatic, 35.6% (36/101) of children with DMD reported symptoms of snoring; 2% (2/101) of them reported respiratory pauses during sleep. From polysomnographic studies, 61.4% (62/101) had sleep-related respiratory abnormalities, 50.5% (51/101) had obstructive sleep apnea, 10.9% (11/101) had central sleep apnea, and 14.9% (15/101) had significant hypoventilation. There was no significant difference in sleep efficiency (75.7±12.6%[S] vs 75.8±14.9%, P = NS), arousal index (9.9±4.2/hr [S] vs 10.6±6.4/hr, P = NS) or percentage of REM sleep (9.9±4.2% [S] vs 10.6±6.4%, P = NS) between DMD children with (S) and without (C) SDB. Sleep disordered breathing is common in asymptomatic children with DMD even at the early age. SDB in children with DMD is not associated with significant change in sleep architecture. We speculate that SDB in children with DMD at the early age will have an adverse effect on overall clinical outcomes. This study emphasizes the need for early detection and early intervention of SDB in this population. The study is supported by the Cincinnati Children’s Hospital Research Fund.