Respiratory Management of the Patient With Duchenne Muscular Dystrophy

Abstract

In 2010, Care Considerations for Duchenne Muscular Dystrophy, sponsored by the Centers for Disease Control and Prevention, was published in Lancet Neurology, and in 2018, these guidelines were updated. Since the publication of the first set of guidelines, survival of individuals with Duchenne muscular dystrophy has increased. With contemporary medical management, survival often extends into the fourth decade of life and beyond. Effective transition of respiratory care from pediatric to adult medicine is vital to optimize patient safety, prognosis, and quality of life. With genetic and other emerging drug therapies in development, standardization of care is necessary to accurately assess treatment effects in clinical trials. This revision of respiratory recommendations preserves a fundamental strength of the original guidelines: namely, reliance on a limited number of respiratory tests to guide patient assessment and management. A progressive therapeutic strategy is presented that includes lung volume recruitment, assisted coughing, and assisted ventilation (initially nocturnally, with the subsequent addition of daytime ventilation for progressive respiratory failure). This revision also stresses the need for serial monitoring of respiratory muscle strength to characterize an individual’s respiratory phenotype of severity as well as provide baseline assessments for clinical trials. Clinical controversies and emerging areas are included.

Understanding adherence to noninvasive ventilation in youth with Duchenne muscular dystrophy

“…The AASM definition of hypoventilation takes its origin from adult OSA pathology and fails to take into consideration compensatory physiologic mechanisms to maintain eucapnia at the expense of sleep quality. Recent literature suggests obtaining a diagnostic polysomnogram with any symptoms of sleep disordered breathing and treating with bilevel pressure support with a backup rate …”

“…The children's Yale-Brown obsessive-compulsive scale-parent report (CY-BOCS-PR) is a 10 item parent-report questionnaire that assesses distress and impairment caused by obsessions (5 items) and compulsions (5 items) in the youth. Higher scores represent more severe impairment: subclinical (0-7), mild (8)(9)(10)(11)(12)(13)(14)(15), moderate (16)(17)(18)(19)(20)(21)(22)(23), severe (24)(25)(26)(27)(28)(29)(30)(31), and extreme (32)(33)(34)(35)(36)(37)(38)(39)(40). Internal consistency coefficients ranged from 0.70 to 0.86 for the subscales (ie, obsession, compulsion, total).…”

Therapies that are available and under development for Duchenne muscular dystrophy: What about lung function?

“…It should also be highlighted that the early recognition of symptoms indicative of acute respiratory exacerbation is of crucial importance for the timely implementation of all appropriate treatments . In addition, the serial monitoring of respiratory muscle strength helps clinicians classify lung function according to its severity and optimize care and also provides baseline data for clinical trials …”

“…[5][6][7] In addition, the serial monitoring of respiratory muscle strength helps clinicians classify lung function according to its severity and optimize care and also provides baseline data for clinical trials. 8 The aforementioned interventions may slow down the progress of respiratory symptoms and the onset of respiratory failure, but they do not really modify the natural course of Duchenne dystrophy and do not reverse the subsequent gradual ventilator impairment. At present, therapy with steroids (deflazacort and prednisone) is the only pharmacological treatment that has proved to have a beneficial effect on muscle strength, prolonging ambulation, and preventing scoliosis.…”

Analysis of airflow indices in paediatric respiratory disorders

“…The annual testing of patients with DMD may delay the diagnosis of SDB since this can only be assessed with overnight PSG, or home monitoring with airflow, oxygen saturation, carbon dioxide monitoring, and respiratory effort monitors [99].The onset of DMD patient muscle deterioration (in particular) is insidious and tracking subtle changes may improve quality of life the patient and the caregiver [98]. Early intervention of NIV can extend the life expectancy of DMD [62].…”