Zambon, Alberto A;
Trucco, Federica;
Laverty, Aidan;
Riley, Mollie;
Ridout, Deborah;
Manzur, Adnan Y;
Abel, Francois;
(2022)
Respiratory Function and Sleep Disordered Breathing in Pediatric Duchenne Muscular Dystrophy.
Neurology
, 99
(12)
E1216-E1226.
10.1212/WNL.0000000000200932.
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Abstract
BACKGROUND: The decline of respiratory function in Duchenne muscular dystrophy (DMD) is associated with sleep disordered breathing (SDB) and alteration of nocturnal gas exchange, first manifesting as nocturnal hypoventilation (NH). However, the correlation between pulmonary function measured by spirometry (PFT) and the onset of SDB with or without NH is unclear. AIM: To identify the prevalence and features of SDB and to investigate the relationship between lung function determined by forced vital capacity (FVC) and sleep abnormalities in a large paediatric DMD population. METHODS: Retrospective, single-center cohort study. FVC% predicted (FVC%) was calculated using predicted equations from the Global Lung Function Initiative. NH was defined by transcutaneous (tc) CO2 >50 mmHg for >25% of total sleep time (TST); borderline NH by a mean tcCO2 between 45-50mmHg or tcCO2>50mmHg for ≤25% of TST; Clinically meaningful obstructive sleep apnea (OSA) by obstructive Apnea-Hypopnea Index >5. The sensitivity, specificity, positive and negative predictive value of FVC<50% to indicate presence of nocturnal hypoventilation were calculated. RESULTS: 134 patients underwent 284 sleep studies and 1222 PFT. Mean (SD) age at first and last sleep study was 12.9 (2.7) and 14.3 (2.6) years. Borderline NH (n=31) was detected in both ambulant and early-non ambulant subjects, while 100% of NH cases (n=14) were non-ambulant. NH was detected in 4/14 patients despite an FVC>50%. Seventeen/26 patients with OSA presented with concomitant NH or borderline NH. FVC<50% was associated with NH indicating a sensitivity and specificity of 73% and 86%, respectively. Positive and negative predictive value were 32% and 97% respectively. PFT showed a non-linear, sudden FVC% decline in 18% of cases. CONCLUSIONS: FVC% <50 was associated with NH in close to a third of patients. CO2 elevation can be associated with obstructive/pseudo-obstructive events and was also observed in early non-ambulant cases or in the presence of FVC>50%. These results are relevant for the clinical management of SDB.
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