BACKGROUND:Patients with Duchenne muscular dystrophy (DMD) have progressive muscular weakness, respiratory decline and often have poor adherence to nocturnal non-invasive positive airway pressure ventilation (NIPPV). METHODS:In 2020, we sought to increase nocturnal NIPPV adherence (≥ 4 h use overnight on at least 65% of nights) from 33% to 75% by December 2024 at a pediatric neuromuscular center. We used quality improvement (QI) methods and identified key drivers (follow-up, education, staff engagement, consistent documentation). Interventions included: assuring timely follow-up (within ≤ 14 months), pre-visit planning, reminders to bring NIPPV equipment to clinic, addressing adherence barriers and partnering with psychologists. Improving overnight NIPPV adherence was the primary outcome measure. Process measures included the proportion of patients with: (1) NIPPV equipment in the clinic, (2) timely follow-up, and (3) a properly documented follow-up call. Measures were tracked on run charts. RESULTS:Baseline median adherence improved from 33% to 60% in 8 months, and subsequently to 74% (n = 181). The proportion of patients with NIPPV machines in the clinic increased (53%-82%), as did the proportion of patients with timely follow-up (81%-95%). Common patient-reported (n = 123) adherence barriers included: "sleeping well without NIPPV" (20%), "air pressure discomfort" (14%) and "falling asleep before putting it on" (14%). Common parent-reported barriers were: "forget to use" (17%) and "fall asleep before putting it on" (15%). CONCLUSION:Nocturnal NIPPV adherence improved in youth with DMD using QI methods. Tracking adherence automatically via equipment records, further investigating barriers and minimizing discomfort with NIPPV may further improve adherence.

Abstract Introduction Narcolepsy affects 25-100/100,000 people in the US. Daytime sleepiness associated with pediatric narcolepsy negatively impacts quality of life (QoL), academics, vocational function, and personal safety. The Epworth sleepiness scale (ESS) is a validated tool that measures daytime sleepiness. We aimed to improve daytime sleepiness in children with narcolepsy at our center using quality improvement process to increase the percentage of narcolepsy patients with at least a 30% improvement of ESS from baseline. Methods We created a multidisciplinary quality improvement (QI) team in 2019 and used standard QI methods. Key drivers included access to care, patient and family engagement in care, follow up tracking, and complete provider documentation. We conducted plan-do-study-act (PDSA) cycles and tracked progress with a run chart. Interventions included pre-visit planning tool enhancement, tracking duration between visits and missed clinic visits, contacting patients with ≥2 missed visits, tracking prescriptions, identifying patients without referrals for behavioral/psychological support, and treating comorbid sleep disorders. Process measures included the ESS completion rate and days between visits. The primary outcome measure was improvement on the ESS. A secondary outcome measure was improvement in QoL (10% improvement in the PedsQL score). Results Between 2019 and 2023, 101 patients had 605 visits. The ESS completion rate (>90% pre-COVID), decreased during COVID to 57% and improved to a median of 70% in 2023. The ESS completion rate was lower for telehealth (36%) than in-person visits (90%). Pre-COVID, the median days between visits was below goal (< 200 days) at 156 days but increased to 210 days in December 2020. Approximately three years after project initiation, 62% of patients had at least a 30% improvement in the ESS score. Improvements were sustained over 16 months. Average decrease in ESS score was 9.9 points (score range: 0-24)since 1/2020. The median baseline PedsQL score was 64.7 (borderline unhealthy) and increased by 14%. Conclusion Using QI methods and multiple interventions, we increased the percentage of narcolepsy patients with at least a 30% improvement in the ESS score to >60%. Ongoing challenges include accommodating increased patient volume, reducing process variation in ESS completion, and standardizing documentation practices for ESS scores. Support (if any)

Sleep disordered breathing (SDB) is prevalent among children with neuromuscular disorders (NMD). The combination of respiratory muscle weakness, altered drive, and chest wall distortion due to scoliosis make sleep a stressful state in this population. Symptomatology can range from absent to snoring, nocturnal awakenings, morning headaches, and excessive daytime sleepiness. Sequelae of untreated SDB includes cardiovascular effects, metabolic derangements, and neurocognitive concerns which can be compounded by those innate to the NMD. The clinician should have a low threshold for obtaining polysomnography and recognize the nuances of individual disorders due to disproportionately impacted muscle groups such as hypoventilation in ambulating patients from diaphragm weakness. Non-invasive or invasive ventilation are the mainstay of treatment. In this review we explore the diagnosis and treatment of SDB in children with various NMD.

Sleep-disordered breathing (SDB) is common in Chiari Malformation (CM) and Spina Bifida (SB) and can lead to adverse consequences if untreated. Therefore, screening is very important but the Pediatric Sleep Questionnaire (PSQ) has not been validated in this population. Further, there is limited data on the validity of this tool in children with central nervous system malformations. Retrospective chart review of CM and SB patients evaluated in our sleep center between 2008 and 2018. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of the PSQ and several of its components were calculated to predict obstructive sleep apnea (OSA). A total of 149 patients met criteria for analysis. The majority were referred to a sleep specialist due to concern for SDB. OSA was found in 36% (53/149) of all patients. The sensitivity and specificity of the PSQ to predict OSA was 73.58% and 20.83%, respectively. The PPV was 33.91%, and the NPV was 58.82%. Specificity values were higher for PSQ as negative predictors of moderate or severe OSA. In this population, the sensitivity of PSQ for OSA is reasonable but lower than values described in other populations. The specificity and NPV are low. Even with a high prevalence of OSA, symptoms of SDB may overlap with those of other comorbidities leading to a low specificity. A PSQ could be used to prioritize which patients need a PSG more urgently than others. Further studies are needed to define an optimal cut-off value of the PSQ in this population.

The term neuromuscular disease (NMD) encompasses a large variety of disorders that result in abnormal muscle function. Although it may be conventional to relate the use of this term to the most common muscular diseases (Duchenne muscular dystrophy [DMD], spinal muscular atrophy [SMA], and amyotrophic lateral sclerosis, etc), it is important to extend the term to pathologies manifested by severe neurologic (brain and spinal cord) malformations and injuries. In many of these scenarios, there are common mechanisms that contribute to sleep disordered breathing (SDB) and respiratory insufficiency although comorbidities may be somewhat different. Advances in the understanding of these diseases and their natural history, and increasing availability of mechanical ventilation to these patients have improved survival. The development of novel genetic and molecular therapies (as in the cases of DMD, SMA, and X-linked myotubular myopathy) provides an opportunity to use SDB as a reasonable outcome measure while also allowing the use of polysomnography as a validation tool in the assessments of effectiveness of therapies. We seek to provide an understanding of SDB in NMDs, and in the same light, would like to begin the conversation of thinking about weaning respiratory support when possible.

Objective Respiratory compromise in congenital muscular dystrophy (CMD) occurs, in part, from chest wall contractures. Passive stretch with hyperinsufflation therapy could reduce related costo-vertebral joint contractures. We sought to examine the impact of hyperinsufflation use on lung function and quality of life in children with CMD. Study Design We conducted a randomized controlled trial on hyperinsufflation therapy in children with CMD at two centers. An individualized hyperinsufflation regimen of 15 minutes twice daily using a cough assist device over a 12 months period was prescribed. We measured lung function, quality of life, and adherence. To demonstrate reproducibility, pulmonary function was measured twice on the same day. A mixed-effects regression model adjusting for confounders was used to assess the effects of hyperinsufflation. Results We enrolled 34 participants in the study; 31 completed the trial (n = 17 treatment group and n = 14 controls). Participants in the treatment group demonstrated a relative gain in lung volume measured at 4 and 8 months, but not at 12 months. The control group required increases in the maximum insufflation pressures to achieve maximum lung volumes while the treatment group did not. Adherence was best early in the study, peaking at the first visit and decreasing at subsequent visits. Caregiver-reported quality of life was higher in the treatment group. Conclusion Hyperinsufflation therapy is effective in increasing and sustaining lung volume over time. Adherence, however, was inconsistent and difficult to maintain. Further research should determine if improved adherence leads to sustained benefits of hyperinsufflation.

Duchenne muscular dystrophy (DMD) is an X-linked, progressive neuromuscular disorder that results in chronic respiratory insufficiency and subsequently failure requiring noninvasive ventilation (NIV). Adherence to NIV in neuromuscular disorders and related barriers are poorly described. The aim of the current study was to assess NIV adherence, adherence barriers, and identify psychosocial predictors of adherence in young boys with early DMD-related sleep disordered breathing and recommended nocturnal NIV. This cross-sectional study included 42 youth with DMD with prescribed nocturnal NIV, and their caregivers. Caregivers and youth completed questionnaires assessing adherence barriers, psychosocial symptoms (eg, anxiety and depressive symptoms), and stress. Medical information pertinent to cardiopulmonary health and neurologic status at both enrollment and initiation of NIV was reviewed. Adherence to NIV, defined as percent days used and days used >= 4 hours/day was 56.1 +/- 38.7% and 46.2 +/- 40.6%, respectively. Average duration of use on days worn was 5.61 +/- 4.23 hours. NIV usage was correlated with the severity of obstructive sleep apnea but not cardiopulmonary variables. Mask discomfort was the most commonly reported adherence barrier followed by behavioral barriers (eg, refusing to use). Multiple regression analyses revealed that internalizing behaviors (eg, anxiety and depressive symptoms) and total adherence barriers significantly predicted NIV adherence. Adherence to NIV in DMD is poor and similar to other pediatric chronic diseases. Our data suggest interventions targeting adherence barriers and patient internalizing symptoms may improve adherence to NIV in DMD.

STUDY OBJECTIVES Although respiratory abnormalities occurring during wakefulness are well recognized in patients with Rett syndrome (RS), less has been reported regarding sleep-disordered breathing (SDB) in this population. This study aims to characterize the presenting complaints, types and severity of SDB, and treatment modalities of patients with RS and sleep concerns. METHODS Retrospective chart review of pediatric patients with RS referred to our academic tertiary care institution from January 2007 to July 2017. RESULTS Thirteen patients were identified, 11 female (84.6%); mean age at polysomnography (PSG) was 10.3 years (standard deviation 4.94). Eleven were white (84.6%), 2 were black (15.4%). The most common presenting symptoms were snoring (10/13, 77%) and witnessed apnea (7/13, 53.8%). On baseline PSG, all patients (100%) exhibited hyperapneas followed by a central apnea during wake. Nine (69.2%) had obstructive sleep apnea (OSA) (obstructive apnea-hypopnea index (oAHI) > 1); four had severe OSA (oAHI ≥ 10). One had central sleep apnea (central apnea index > 5) and severe OSA. No patients exhibited hypoventilation on baseline PSG. Mean AHI of all patients was 8.77 ± 8.82 (oAHI 6.51 ± 6.91) events/h. Mean oxyhemoglobin nadir was 88.52 ± 5.6%. Treatment modalities included observation: 5 (38%), acetazolamide: 2 (15%), nasal mometasone: 1 (7.7%), adenotonsillectomy: 3 (23.1%), and positive airway pressure: 2 (15%). CONCLUSIONS Regarding patients with RS referred to the sleep medicine clinic, snoring and witnessed apneas were the most common presenting complaints. In addition to breathing abnormalities during wake, OSA was very common in our cohort. Further studies are needed to examine the pathogenesis of OSA in RS and relationships between disease genotype and respiratory abnormality phenotype.

Objective To describe and compare the lung function decline in patients with Duchenne muscular dystrophy on glucocorticoid therapy in contrast with glucocorticoid-naive patients, and to define the deciles of pulmonary decline in glucocorticoid-treated patients. Study design This retrospective study examined lung function of patients with Duchenne muscular dystrophy over 6 years of age followed between 2001 and 2015 at 2 centers-glucocorticoid-treated patients in Cincinnati, Ohio, and glucocorticoid-naive patients in Paris, France. Forced vital capacity (FVC, FVC%), forced expiratory volume in 1 second, maximal inspiratory pressure, maximal expiratory pressure, and peak expiratory flow data were analyzed. Only FVC data were available for the French cohort. Results There were 170 glucocorticoid-treated patients (92%), 5 patients (2.7%) with past glucocorticoid use, and 50 French glucocorticoid-naIve patients. The peak absolute FVC was higher and was achieved at earlier ages in glucocorticoid-treated compared with glucocorticoid-naive patients (peak FVC, 2.4 +/- 0.6 L vs 1.9 +/- 0.7 L; P < .0001; ages 13.5 +/- 3.0 years vs 14.3 +/- 2.8 years; P = .03). The peak FVC% was also higher and was achieved at earlier ages in glucocorticoid-treated patients (peak FVC%, 105.1 +/- 25.1% vs 56 +/- 20.9%; P < .0001; ages 11.9 +/- 2.9 years vs 13.6 +/- 3.2 years; P = .002). Rates of decline for both groups varied with age. Maximal rates of decline were 5.0 +/- 0.26% per year (12-20 years) for glucocorticoid-treated and 5.1 +/- 0.39% per year for gluco-corticoid-naive patients (11-20 years; P = .2). Deciles of FVC% decline in glucocorticoid-treated patients show that patients experience accelerated decline at variable ages. Conclusions These data describe nonlinear rates of decline of pulmonary function in patients with Duchenne muscular dystrophy, with improved function in glucocorticoid-treated patients. FVC% deciles may be a useful tool for clinical and research use.

Clinical presentation of patients with Joubert syndrome consists of hypotonia, developmental delay, and ataxia. Abnormalities in breathing during wakefulness and sleep have been reported in these patients with a characteristic pattern of tachypnea followed by apnea. There is limited literature on other types of sleep-related breathing abnormalities in this population. Therefore, the aim of this study is to describe the clinical presentation to sleep clinic, and various types of sleep disordered breathing (SDB) determined by polysomnography (PSG) in a cohort of patients with Joubert syndrome. This retrospective study included chart review on patients aged 0 to 18 who had a diagnosis of Joubert syndrome and were referred to the Sleep Center. Clinical presentation and diagnostic PSG results were collected. 11 subjects were identified of which 45% were female. The mean (SD) age at diagnostic PSG was 3.21 (5.45) years. 6/11 (55%) subjects had a diagnostic PSG in infancy. Clinical presentation at the time of referral comprised witnessed apnea (8/11; 73%), snoring or stridor (7/11; 64%), desaturation (4/11; 36%), and daytime sleepiness (1/11; 9%). Abnormalities in breathing during wakefulness with characteristic tachypnea followed by apnea were observed on PSG. The mean (SD) apnea hypopnea index (AHI) and obstructive index (OI) were 27.5 (25.0) and 19.6 (23.2), respectively. Analysis of type of SDB revealed that 9/11 (82%) had obstructive sleep apnea (OSA, obstructive AHI > 1), 7/11 (64%) had severe OSA (Obstructive AHI > 10), 5/11 (45%) had central sleep apnea (CSA), 3/11 (27%) had hypoventilation, and 2/11(18%) had nonapneic hypoxemia. Witnessed apnea and snoring are the most common presenting symptoms in our cohort of children with Joubert syndrome. Sleep disordered breathing including OSA, CSA and hypoventilation are common in this population. Interestingly, the prevalence of OSA is very high in our cohort with predominately infants and young children. Further studies are needed to assess the pathophysiologic mechanisms of OSA including respiratory control abnormality, hypotonia and/or anatomic obstruction. Support (If Any):