Non-invasive ventilation usage and adherence in children and adults with Duchenne muscular dystrophy: A multicenter analysis.

INTRODUCTION/AIMS: Non-invasive ventilation (NIV) is routinely prescribed to support the respiratory system in Duchenne muscular dystrophy (DMD) patients; however, factors improving NIV usage are unclear. We aimed to identify predictors of NIV adherence in DMD patients. METHODS: This was a multicenter retrospective analysis of DMD patients prescribed NIV and followed at (1) The Hospital for Sick Children, Canada; (2) Rady Children's Hospital San Diego, USA; and (3) University of California San Diego Health, USA, between February 2016 and October 2020. The primary and secondary outcomes were 90-day period NIV adherence and clinical and socioeconomic predictors of NIV adherence. RESULTS: We identified 59 DMD patients prescribed NIV (mean ± SD age = 20.1 ± 6.7 y). Overall, percentage of nights used, and average nightly usage, were 79.9 ± 31.1% and 7.23 ± 4.12 h, respectively. Compared with children, adults had higher percentage of nights used (92.9 ± 16.9% vs. 70.4 ± 36.9%; P < .05), and average nightly usage (9.5 ± 4.7 h vs. 5.3 ± 3.7 h; P < .05). Non-English language (P = .01), and absence of deflazacort prescription (P = .02) were significantly associated with higher percentage of nights used while Hispanic ethnicity (P = .01), low household income (P = .02), and absence of deflazacort prescription (P = .02) were significantly associated with higher nightly usage. Based on univariable analysis, older age and declining forced vital capacity were associated with increased percentage of nights used and increased average nightly usage. DISCUSSION: Certain clinical and socioeconomic determinants had a significant impact on NIV adherence in DMD patients, providing insight into those at risk for high versus low compliance with respiratory therapy.

Characterization of sleep-disordered breathing in children with Duchenne muscular dystrophy by the American Academy of Sleep Medicine criteria vs disease-specific criteria: what are the differences?

STUDY OBJECTIVES: Individuals with Duchenne muscular dystrophy (DMD) frequently develop sleep-disordered breathing. Noninvasive ventilation is often prescribed for sleep-disordered breathing treatment based on the American Academy of Sleep Medicine (AASM) criteria. In 2018, DMD disease-specific criteria for sleep-disordered breathing were established. Our study aimed to examine the clinical interpretation differences using these different criteria. METHODS: We performed a multicenter, retrospective chart review of children with DMD followed at The Hospital for Sick Children, Toronto, Canada, and Rady Children's Hospital, San Diego, California, who underwent polysomnography from August 1, 2012, to February 29, 2020. Baseline characteristics and polysomnography data were summarized using descriptive statistics. Agreement for the diagnosis of sleep-disordered breathing evaluated by kappa statistics and sensitivity/specificity analysis was assessed. RESULTS: One hundred five male children with DMD (mean ± SD age: 12.1 ± 3.8 years; body mass index z score: 0.2 ± 2.3) were included. The proportions of children with DMD that met at least 1 AASM criterion and at least 1 DMD criterion were 45.7% and 67.6%, respectively. We found that 32.4% of children met neither AASM nor DMD criteria. Overall agreement between AASM and DMD criteria was moderate (k = 0.57). There was almost perfect agreement in sleep apnea diagnosis (k = 0.90); however, there was only slight agreement in hypoventilation diagnosis (k = 0.12) between AASM and DMD criteria. CONCLUSIONS: There were more children with DMD diagnosed with nocturnal hypoventilation and prescribed noninvasive ventilation using DMD criteria compared with AASM criteria. Future studies should address whether the prescription of noninvasive ventilation for children with DMD based on both criteria is associated with different clinical outcomes. CITATION: Hurvitz MS, Sunkonkit K, Massicotte C, Li R, Bhattacharjee R, Amin R. Characterization of sleep-disordered breathing in children with Duchenne muscular dystrophy by the American Academy of Sleep Medicine criteria vs disease-specific criteria: what are the differences? J Clin Sleep Med. 2022;18(2):609-615.

Functional Respiratory Disorders in Children.

Functional respiratory disorders (FRDs) are those characterized by respiratory symptoms without anatomic or organic etiology. Clinicians caring for children encounter these disorders and should be familiar with diagnosis and treatment. FRDs encompass the habit cough syndrome and its variants, vocal cord dysfunction, hyperventilation disorders, functional dyspnea, and sighing syndrome. Failure to identify these disorders results in unnecessary testing and medication. This article reviews the clinical presentation, manifestation, and treatment of respiratory FRDs in children. How health care providers can successfully identify and treat these reversible conditions in the clinical setting is discussed.

Determinants of usage and nonadherence to noninvasive ventilation in children and adults with Duchenne muscular dystrophy.

STUDY OBJECTIVES: Duchenne muscular dystrophy (DMD) is a neuromuscular disorder that leads to chronic respiratory insufficiency and failure. Use of home noninvasive ventilation (NIV) has been linked to improved outcomes including reduced mortality. Despite the importance of NIV, factors promoting optimal NIV usage and determinants of nonadherence have not been rigorously examined. Moreover, given that respiratory issues in DMD span between childhood and adulthood, examination across a broad age group is needed. The objectives of this study were to (1) evaluate NIV usage across a broad spectrum of patients with DMD, including both children and adults, and (2) identify biological and socioeconomic determinants of NIV usage and NIV nonadherence. METHODS: We performed a retrospective review of all patients with DMD from February 2016 to February 2020 who underwent evaluation at associated pediatric and adult neuromuscular disease clinics. NIV use was determined objectively from device downloads. A priori, we defined nonadherence as < 4 hours use per night, quantified as the percentage of nights below this threshold across a 30-day period within 6 months of a clinic visit. We also assessed the average hours of NIV usage over this time period. Predictors examined included demographics, social determinants, and pulmonary function. RESULTS: 33 patients with DMD were identified, 29 (87%) of whom were using NIV (13 age < 21 years). Mean age was 22.9 ± 6.6 years (range 13-39 years), body mass index was 23.4 ± 10.4 kg/m2, and seated forced vital capacity was 23% ± 18% predicted. Mean nightly NIV usage was 7.4 ± 3.8 hours and mean percentage of nonadherent nights was 13% ± 30%. In univariable analysis, age did not predict use. Those with lower forced vital capacity had higher NIV usage hours (P = .01) and a trend toward less nonadherence (P = .06). Higher estimated household income demonstrated a trend toward increased usage hours and less nonadherence (both P = .08). Multivariable analysis found increased usage hours were predicted best by higher income, higher inspiratory positive airway pressure, and higher bicarbonate. Nonadherence was higher in those with lower income or higher forced vital capacity. CONCLUSIONS: In this cohort of adult and pediatric patients with DMD, most individuals were using NIV. While usage hours were higher with lower lung function, substantial variability remains unexplained by examined factors. Nonadherence was observed in some individuals, including those with advanced disease. Further investigations should focus on evaluating patient-oriented outcomes to define optimal NIV usage across the spectrum of disease and determine strategies to counteract issues with nonadherence. CITATION: Hurvitz MS, Bhattacharjee R, Lesser DJ, Skalsky AJ, Orr JE. Determinants of usage and nonadherence to noninvasive ventilation in children and adults with Duchenne muscular dystrophy. J Clin Sleep Med. 2021;17(10):1973-1980.

Diagnosis and management of chronic cough: similarities and differences between children and adults.

Cough is a natural process that protects the airway. Cough can occur spontaneously or voluntarily. It is considered chronic when it is present for longer than 4 weeks in children or 8 weeks in adults. In both, chronic cough causes patient distress and increased healthcare utilization. Etiologies of pediatric chronic cough include asthma, protracted bacterial bronchitis, tracheomalacia, habit cough, and various systemic disorders. While some diagnoses are identifiable by careful history alone, others require testing guided by specific pointers. Flexible fiberoptic bronchoscopy has been an important tool to identify etiologies of chronic cough that were not otherwise apparent. In adults, asthma and bronchitis are well-defined etiologies of chronic cough, but much chronic cough in adults is largely a conundrum. Reviews of adult chronic cough report that at least 40% of adults with chronic cough have no medical explanation. Gastroesophageal reflux and upper airway cough syndrome (a.k.a. post-nasal drip) have been common diagnoses of chronic cough, but those diagnoses have no support from controlled clinical trials and have been subjected to multiple published critiques. Cough hypersensitivity is considered to be an explanation for chronic cough in adults who have no other confirmed diagnosis. Gabapentin, a neuromodulator, has been associated with a modest effect in adults, as has speech pathology. While habit cough has not generally been a diagnosis in adults, there is evidence for a behavioral component in adults with chronic cough. Treatment for a specific diagnosis provides a better outcome than trials of cough suppression in the absence of a specific diagnosis. More data are needed for chronic cough in adults to examine the hypothesized cough hypersensitivity and behavioral management. This article reviews etiologies and the treatment of chronic cough in children and the conundrum of diagnosing and treating chronic cough in adults.

Findings of routine nocturnal polysomnography in children with Down syndrome: a retrospective cohort study.

STUDY OBJECTIVE: Children with Down syndrome (DS) are at risk for sleep disorders including; obstructive sleep apnea (OSA). Although OSA is diagnosed by polysomnography (PSG), the practicality of PSG in DS is questionable. Further, OSA treatment efficacy in DS is largely unknown given the challenges of PSG. Our aims were to review (i) the feasibility of PSG, and (ii) the efficacy (improvement in obstructive apnea hypopnea index (OAHI)) of OSA treatment using follow-up PSG in DS. METHODS: Retrospective review of patients aged <21 years with DS who underwent PSG from October 2016 to June 2019. Successful PSG was determined using total sleep time (TST). PSG following treatment with adenotonsillectomy (AT) or positive airway pressure (PAP) was evaluated and compared to pre-treatment. RESULTS: Among 248 patients with DS, only 11(4.4%) had unsuccessful PSG (TST<1h). Of the 237 successful studies (age: 7.9 ± 0.3y), average TST and sleep efficiency was 5.6 ± 0.1h and 79.5 ± 1.3%. 41 had post-AT PSG and 11(27%) achieved OSA cure (OAHI<2) with all demonstrating improved SE (p = 0.01) and OAHI (p = 0.0003). Multivariate analysis revealed only age was predictive (p = 0.003) of residual OSA post-AT. Of 24 children who underwent PAP titration, 20(83%) tolerated titration with improved OAHI (p = 0.01), however, no significant improvements in SE were observed. CONCLUSIONS: In a large cohort of DS children, PSG was well tolerated. Following AT or PAP therapy, post treatment PSG confirmed efficacy, although residual OSA was identified. PSG is thus both feasible and useful in identifying OSA, OSA treatment response and should guide in decision making in children with DS.