In summary, our 20-year retrospective study has shown that there has been an exponential growth in the number of children receiving domiciliary LTMV with the majority of children having favorable outcomes. Our study represents a step towards developing a Canadian registry to design and implement programmatic change for this medically complex population to ensure best practice for these children as well as their families.

The median length of stay from the initiation of invasive long-term ventilation to discharge home from the rehabilitation hospital was somewhat long compared with other ventilation programs worldwide. Additionally, approximately 20% of the cohort never transitioned home. There is a timely need to benchmark across the country and internationally, to identify and implement strategies for cohesive, coordinated care for these children to decrease overall length of stay.

There has been a significant increase in the past few decades in the number of children receiving noninvasive positive airway pressure (PAP) therapy at home. At present, PAP therapy can be successfully used in children of all ages, for a variety of indications. Data acquired from PAP devices is clinically useful, providing objective information regarding adherence, leak, and efficacy of PAP therapy. However, guidelines outlining a standardized approach to interpretation of PAP device data in pediatrics is currently lacking. Given the rapidly expanding use of PAP therapy in pediatric practice, we aim to provide an overview of the interpretation of data reports, otherwise called “data downloads,” from PAP devices and illustrate how they can be used to guide clinical care.

iVAPS was associated with a reduction in the maximum tcCO2 during NREM sleep as compared to traditional S/T mode. Prospective, longitudinal studies are needed to evaluate the benefits of BPAP therapy iVAPS mode for the treatment of pediatric CCHS.

Objective:Nemaline myopathy (NM) is a rare neuromuscular condition with clinical and genetic heterogeneity. To establish disease natural history, we performed a cross-sectional study of NM, complemented by longitudinal assessment and exploration of pilot outcome measures.Methods:Fifty-seven individuals with NM were recruited at two family workshops, including 16 examined at both time points. Subjects were evaluated by clinical history and physical examination. Functional outcome measures included the Motor Function Measure (MFM), pulmonary function tests (PFTs), myometry, goniometry, and bulbar assessments.Results:The most common clinical classification was “typical congenital” (54%), whereas 42% had more severe presentations. 58% of individuals needed mechanical support, with 26% requiring wheelchair, tracheostomy, and feeding tube. The MFM scale was performed in 44/57 participants and showed reduced scores in most with little floor/ceiling effect. Of the 27 individuals completing PFTs, abnormal values were observed in 65%. Lastly, bulbar function was abnormal in all patients examined, as determined using a novel outcome measure. Genotypes included mutations in ACTA1 (18), NEB (20), and TPM2 (2). Seventeen individuals were genetically unresolved. Patients with pathogenic ACTA1 and NEB variants were largely similar in clinical phenotype. Patients without genetic resolution had more severe disease.Conclusion:In all, we present a comprehensive cross-sectional study of NM. Our data identify significant disabilities and support a relatively stable disease course. We identify a need for further diagnostic investigation for the genetically unresolved group. Lastly, MFM, pulmonary function tests, and the slurp test were identified as promising outcome measures for future clinical trials.