An algorithm for discontinuing mechanical ventilation in boys with x-linked myotubular myopathy after positive response to gene therapy: the ASPIRO experience.

X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy. Most (80%) children with XLMTM have profound muscle weakness and hypotonia at birth resulting in severe respiratory insufficiency, the inability to sit up, stand or walk, and early mortality. At birth, 85-90% of children with XLMTM require mechanical ventilation, with more than half requiring invasive ventilator support. Historically, ventilator-dependent children with neuromuscular-derived respiratory failure of this degree and nature, static or progressive, are not expected to achieve complete independence from mechanical ventilator support. In the ASPIRO clinical trial (NCT03199469), participants receiving a single intravenous dose of an investigational gene therapy (resamirigene bilparvovec) started showing significant improvements in daily hours of ventilation support compared with controls by 24 weeks post-dosing, and 16 of 24 dosed participants achieved ventilator independence between 14 and 97 weeks after dosing. At the time, there was no precedent or published guidance for weaning chronically ventilated children with congenital neuromuscular diseases off mechanical ventilation. When the first ASPIRO participants started showing dramatically improved respiratory function, the investigators initiated efforts to safely wean them off ventilator support, in parallel with primary protocol respiratory outcome measures. A group of experts in respiratory care and physiology and management of children with XLMTM developed an algorithm to safely wean children in the ASPIRO trial off mechanical ventilation as their respiratory muscle strength increased. The algorithm developed for this trial provides recommendations for assessing weaning readiness, a stepwise approach to weaning, and monitoring of children during and after the weaning process.

Impact of Disease-modifying Therapies on Respiratory Function in People with Neuromuscular Disorders.

Spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) are neuromuscular disorders that affect muscular function. The most common causes of morbidity and mortality are respiratory complications, including restrictive lung disease, ineffective cough, and sleep-disordered breathing. The paradigm of care is changing as new disease-modifying therapies are altering disease trajectory, outcomes, expectations, as well as patient and caregiver experiences. This article provides an overview on therapeutic advances for SMA and DMD in the last 10 years, with a focus on the effects of disease-modifying therapies on respiratory function.

Healthcare Utilization and Costs in Children Receiving Home Mechanical Ventilation in Ontario: A 14-Year Cohort Study.

RATIONALE: Home mechanical ventilation (HMV) is an advanced medical therapy offered to children with medical complexity. Despite the growing pediatric HMV population in North America, there are limited studies describing healthcare utilization and predictors of highest costs using robust health administrative data. OBJECTIVES: To describe patterns of healthcare utilization and costs in children receiving HMV over a 14-year period in Ontario, Canada. METHODS: We conducted a retrospective population-based cohort study (April 1, 2003 to March 31, 2017) of children aged 0-18 years receiving HMV via invasive mechanical ventilation (IMV) or non-invasive ventilation (NIV). Paired t-tests compared healthcare system utilization and costs two years before and two years after HMV approval. We developed linear models to analyze variables associated with children in the top quartile of health service utilization and costs. RESULTS: We identified 835 children receiving HMV. In the two years after HMV approval compared to the 2 years prior, children had decreased hospitalization days (median 9 (IQR 3-30) versus 29 (6-99), p<0.0001) and ICU admission days (6.6 (1.9-18.0) versus 17.1 (3.3-70.9), p<0.0001) but had increased homecare service approvals (195 (24-522) versus 40 (12-225), p<0.0001) and outpatient Pulmonology visits (3 (1-4) versus 2 (1-3), p<0.0001). Total healthcare costs were higher in the two years after HMV approval (mean $164,892 (SD $214,187) versus $128,941 ($194,199), p<0.0001). However, all-cause hospital admission costs were reduced ($66,546 ($142,401) versus $81,578 ($164,672), p<0.0001). Highest total 2-year costs were associated with IMV (OR 3.45, 95% CI 2.24-5.31; reference NIV), number of medical devices at home (OR 1.63, 95% CI 1.35-1.96; reference no technology), and increased healthcare costs in the year prior to HMV initiation (OR 2.23, 95% CI 1.84-2.69). CONCLUSIONS: Children progressing to the need for HMV represent a worsening in their respiratory status that will undoubtedly increase healthcare utilization and costs. We found that the initiation of HMV in these children can reduce inpatient healthcare utilization and costs but can still increase overall healthcare expenditures, especially in the outpatient setting.

Neuromuscular Disorders in Pediatric Respiratory Disease.

Respiratory sequelae are a frequent cause of morbidity and mortality in children with NMD. Impaired cough strength and resulting airway clearance as well as sleep disordered breathing are the two main categories of respiratory sequelae. Routine clinical evaluation and diagnostic testing by pulmonologists is an important pillar of the multidisciplinary care required for children with NMD. Regular surveillance for respiratory disease and timely implementation of treatment including pulmonary clearance techniques as well as ventilation can prevent respiratory related morbidity including hospital admissions and improve survival. Additionally, novel disease modifying therapies for some NMDs are now available which has significantly improved the clinical trajectories of patients resulting in a paradigm shift in clinical care. Pulmonologists are 'learning' the new natural history for these diseases and adjusting clinical management accordingly.

The latest on positive airway pressure for pediatric obstructive sleep apnea.

INTRODUCTION: Obstructive sleep apnea (OSA) is an important and evolving area in the pediatric population, with significant sequelae when not adequately managed. The use of positive airway pressure (PAP) therapy is expanding rapidly and is being prescribed to patients with persistent OSA post adenotonsillectomy as well as those children who are not surgical candidates including those with medical complexity. AREAS DISCUSSED: This article provides a state-of-the-art review on the diagnosis of pediatric OSA and treatment with positive airway pressure (PAP). The initiation of PAP therapy, pediatric interface considerations, PAP mode selection, administration and potential complications of PAP therapy, factors influencing PAP adherence, the use of remote ventilation machine downloads, considerations surrounding follow-up of patients post PAP initiation and evaluation of weaning off PAP will be reviewed. The literature search was conducted via PubMed, Cochrane Library and Google Scholar databases through to March 2024. EXPERT OPINION: Further research is required to address barriers to adherence. Further innovation of home monitoring devices for both the diagnosis and assessment of OSA is required, given the limited pediatric sleep medicine resources in several countries worldwide.

Cardioneuroablation for the treatment of reflex syncope and functional bradyarrhythmias: A Scientific Statement of the European Heart Rhythm Association (EHRA) of the ESC, the Heart Rhythm Society (HRS), the Asia Pacific Heart Rhythm Society (APHRS) and the Latin American Heart Rhythm Society (LAHRS).

Cardioneuroablation has emerged as a potential alternative to cardiac pacing in selected cases with vasovagal reflex syncope, extrinsic vagally induced sinus bradycardia-arrest or atrioventricular block. The technique was first introduced decades ago, and its use has risen over the past decade. However, as with any intervention, proper patient selection and technique are a prerequisite for a safe and effective use of cardioneuroablation therapy. This document aims to review and interpret available scientific evidence and provide a summary position on the topic.

Family caregivers of children transitioning hospital to home receiving nasogastric feeding: descriptive qualitative study.

BACKGROUND: Nasogastric tube (NGT) feeding is used for children unable to tolerate adequate nutrition orally to sustain growth and development. This vulnerable population is at risk of gaps in care because they often lack a medical home due to the transitional nature of the technology. This study explores perspectives and challenges of family caregivers (FCs) of children requiring NGTs transitioning from hospital to home. METHODS: Semi-structured qualitative interviews were conducted with FCs at the Hospital for Sick Children and Children's Hospital of Eastern Ontario. Research ethics approval was obtained (SK REB# 1000064641, CHEO REB# 19/133X). Written informed consent was obtained. RESULTS: Thirteen interviews revealed FCs feeling overwhelmed and uncomfortable with first communication of the NGT but learned to manage NGTs with training and virtual care support over time. Initial transition home was described as challenging due to physical, emotional, and financial strain associated with constant management of NGTs. CONCLUSIONS: Our study describes the importance of emotional support and additional time for decision making during initial communication to FCs of their child's NGT need, and access to specialized healthcare professionals after transitioning home. Future programs should focus on personalized education and psychosocial support for FCs of children with NGTs at home. IMPACT: This study delves into the challenges faced by family caregivers (FCs) of children requiring nasogastric tube (NGT) feeding when returning home from the hospital. There is a pressing need for more time for FC decision-making and emotional support during the initial communication of the need for an NGT for their child. In addition, FCs require ongoing 24/7 support including access to healthcare professionals specialized in NGT care after the initial transition home. The study highlights the need for personalized education and psychosocial supports for FCs of children with NGTs to improve their experiences at home.

Obstructive Sleep Apnea and Mental Health Disorders in the Pediatric Population: A Retrospective, Population-based Cohort Study.

Rationale: Information is limited about the association between obstructive sleep apnea (OSA) and mental health disorders in children. Objectives: In children, 1) to evaluate the association between OSA and new mental healthcare encounters; and 2) to compare mental healthcare encounters 2 years after to 2 years before OSA treatment initiation. Methods: We conducted a retrospective longitudinal cohort study using Ontario health administrative data (Canada). Children (0-18 yr) who underwent diagnostic polysomnography (PSG) 2009-2016 and met criteria for definition of moderate-severe OSA (PSG-OSA) were propensity score weighted by baseline characteristics and compared with children who underwent PSG in the same period but did not meet the OSA definition (PSG-No-OSA). Children were followed until March 2021. Weighted cause-specific Cox proportional hazards and modified Poisson regression models were used to compare time from PSG to first mental healthcare encounter and frequency of new mental healthcare encounters per person time, respectively. Among those who underwent adenotonsillectomy (AT) or were prescribed and claimed positive airway pressure therapy (PAP), we used age-adjusted conditional logistic regression models to compare 2 years post-treatment to pretreatment odds of mental healthcare encounters. Results: Of 32,791 children analyzed, 7,724 (23.6%) children met criteria for moderate-severe OSA. In the PSG-OSA group, 7,080 (91.7%) were treated (AT or PAP). Compared with PSG-No-OSA, the PSG-OSA group had a shorter time from PSG to first mental healthcare encounter (hazard ratio, 1.08; 95% confidence interval [CI], 1.05-1.12) but less frequent mental healthcare encounters in follow-up (rate ratio, 0.92; 95% CI, 0.87-0.97). OSA treatment (AT or PAP) was associated with lower odds of mental healthcare encounters 2 years after treatment initiation compared with 2 years before (odds ratio, 0.69; 95% CI, 0.65-0.74). Conclusions: In this large, population-based study of children who underwent PSG for sleep disorder assessment, OSA diagnosis/treatment was associated with an improvement in some mental health indicators, such as fewer new mental healthcare encounters compared with no OSA and lower odds of mental healthcare encounters compared with before OSA treatment.

Evaluation of Stain Removal Efficacy and Color Stability of Three Different Dentifrices on Artificially Stained Enamel Surface-An In Vitro Study.

AIM: The aim of the present study was to assess the stain removal ability and color stability of three distinct dentifrices on artificially stained enamel surface. MATERIALS AND METHODS: This study included 75 intact, healthy premolars free of dental caries that were extracted during orthodontic therapy. The samples were allowed to dry for 6 hours after being submerged in the prepared tea solution for roughly 18 hours every day. Then this procedure was repeated for seven successive days. All samples were randomly divided into three experimental groups with 25 samples in each group. Group I: control dentifrice, group II: dentifrice containing hydrogen peroxide, group III: dentifrice containing papain and bromelain. A specially designed toothbrushing simulator was used to brush every sample in the relevant group. Using a spectrophotometer and a measurement program, color measurement was evaluated after staining process after 4 weeks and 8 weeks of teeth cleaning. Using a profilometer, the surface roughness values (Ra) were assessed. RESULTS: After 8 weeks of brushing of stained samples, the color stability was better in dentifrice containing hydrogen peroxide (1.14 ± 0.11) followed by dentifrice containing papain and bromelain (1.22 ± 0.08) and control group (1.30 ± 0.09). And after 8 weeks of brushing of stained samples, the surface roughness was more in dentifrice containing hydrogen peroxide (0.237 ± 0.02) followed by dentifrice containing papain and bromelain (0.229 ± 0.13) and control group (0.207 ± 0.05). CONCLUSION: The present study concluded that the dentifrice containing hydrogen peroxide showed a superior whitening effect on the stained enamel surface than dentifrice containing papain and bromelain and control dentifrice. CLINICAL SIGNIFICANCE: The development of various dentifrice products has been greatly aided by the increased demand for an improved esthetic appearance. Teeth's natural color and any external stains that could accumulate on the tooth surface combine to determine a tooth's color. Additionally, the use of whitening dental pastes to remove external stains has grown in favor. With the development of these whitening toothpastes, dentifrices' ability to lessen or eliminate extrinsic dental stains has increased. How to cite this article: Mishra D, Kamath DG, Alagla M, et al. Evaluation of Stain Removal Efficacy and Color Stability of Three Different Dentifrices on Artificially Stained Enamel Surface-An In Vitro Study. J Contemp Dent Pract 2024;25(1):68-71.

14 and 6 Hz like spike wave activity is a common finding in young patients with Prader-Willi syndrome.

STUDY OBJECTIVES: Our aim was to characterize the 14 and 6 like spike wave activity seen on electroencephalograms (EEG) in children with Prader-Willi syndrome (PWS) undergoing polysomnograms. METHODS: We performed a retrospective review of children with PWS and healthy controls who underwent diagnostic polysomnograms between January 1, 2007, and December 31, 2020, at SickKids, Toronto, Canada. EEGs from the polysomnograms were reviewed for the presence of the 14 and 6 like spike wave activity and its characteristics. Clinical correlation of the EEG variant with sleep-disordered breathing indices from the polysomnograms was also evaluated. RESULTS: A total of 94 children with PWS and 50 healthy controls were included. The median age and interquartile range for the cohort was 1.42 (0.6, 4.2) years. There were 50 (53.2%) males in the PWS cohort. The EEG variant prevalence in this cohort was 51.0% (n = 48) in children with PWS and 0% for the healthy controls. 14 and 6 Hz like spike wave activity was bilateral in 52% (25/48) children with PWS. The waves had a negative deflection in almost all patients, 44/48 (92%), with PWS. It was predominantly located in the frontal leads for children with PWS, 23/48 (47.9%). It most frequently occurred during non-rapid eye movement stage 2 sleep for children with PWS, 25/48 (52.0%). The mean (standard deviation) frequency was 6.8 (0.97) Hz. The median (interquartile range) length of the waves was 1.1 (0.8, 1.4) seconds in children with PWS. There was no correlation between the presence of the EEG variant and sleep-disordered breathing indices in children with PWS. CONCLUSIONS: The 14 and 6 Hz like spike wave activity EEG variant was present in more than 50% of a pediatric cohort of children with PWS compared with 0% in healthy children. This EEG variant did not appear to be associated with sleep-disordered breathing indices in children with PWS and is of unknown clinical significance. CITATION: Alzaid M, Sunkonkit K, Massicotte C, Otsubo H, Amin R, Al-Saleh S. 14 and 6 Hz like spike wave activity is a common finding in young patients with Prader-Willi syndrome. J Clin Sleep Med. 2024;20(8):1227-1232.

Perioperative clinical practice recommendations for pediatric tonsillectomy: a systematic review.

PURPOSE: Tonsillectomy is one of the most common surgical procedures performed in children. Since most clinical practice guidelines (CPGs) are designed to support surgical decisions, none are specifically designed for the perioperative management of children undergoing tonsillectomy. We aimed to identify and analyze the existing CPGs with recommendations for the perioperative management of children undergoing tonsillectomy by conducting a systematic review. SOURCE: We searched Embase, MEDLINE, MEDLINE ePub Ahead of Print, and CINAHL for relevant articles published from inception to 3 August 2022. The inclusion criteria were: 1) CPG of perioperative recommendations for tonsillectomy under general anesthesia in children, 2) CPG that include at least one evidence-based recommendation, 3) peer-reviewed CPG published in English after 2000. We extracted data on baseline characteristics of each CPG and general recommendations for perioperative interventions or complications. PRINCIPAL FINDINGS: Out of five eligible CPGs, AGREE II and REX confirmed that two CPGs were high quality while only one of the two was recommended for implementation without modifications. Most of the recommendations were for pain management. Acetaminophen was the only medication recommended in all five CPG. Except for the oldest CPG, the CPG all supported of the use of nonsteroidal anti-inflammatory drugs and steroids as a pain adjunct. CONCLUSIONS: Acetaminophen, nonsteroidal anti-inflammatory drugs, and steroids are recommended in the perioperative management of pediatric tonsillectomy. Future CPG should further clarify the safe use of opioids based on severity of obstructive sleep apnea and in the context of opioid-sparing techniques, such as dexmedetomidine, high-dose dexamethasone, and gabapentinoids. STUDY REGISTRATION: PROSPERO (CRD42021253374); first submitted 18 June 2021.

RéSUMé: OBJECTIF: L'amygdalectomie est l'une des interventions chirurgicales les plus courantes pratiquées chez les enfants. Étant donné que la plupart des lignes directrices de pratique clinique sont conçues pour soutenir les décisions chirurgicales, aucune n'est spécifiquement conçue pour la prise en charge périopératoire des enfants bénéficiant d'une amygdalectomie. Notre objectif était d'identifier et d'analyser les lignes directrices de pratique clinique existantes comportant des recommandations pour la prise en charge périopératoire des enfants bénéficiant d'une amygdalectomie en réalisant une revue systématique. SOURCES: Nous avons recherché des articles pertinents dans Embase, MEDLINE, MEDLINE ePub Ahead of Print et CINAHL, publiés depuis la création de ces bases de données jusqu'au 3 août 2022. Les critères d'inclusion étaient les suivants : 1) lignes directrices de pratique clinique comportant des recommandations périopératoires pour l'amygdalectomie sous anesthésie générale chez les enfants, 2) lignes directrices de pratique clinique incluant au moins une recommandation fondée sur des données probantes, et 3) lignes directrices de pratique clinique évaluées par des pairs et publiées en anglais après 2000. Nous avons extrait des données sur les caractéristiques de base de chacune des lignes directrices de pratique clinique et des recommandations générales pour les interventions périopératoires ou les complications. CONSTATATIONS PRINCIPALES: Sur les cinq lignes directrices de pratique clinique admissibles, AGREE II et REX ont confirmé que deux lignes directrices de pratique clinique étaient de haute qualité, tandis qu'une seule des deux a été recommandée pour une mise en œuvre sans modifications. La plupart des recommandations portaient sur la prise en charge de la douleur. L'acétaminophène était le seul médicament recommandé dans les cinq lignes directrices de pratique clinique. À l'exception des lignes directrices de pratique clinique les plus anciennes, les autres ont toutes soutenu l'utilisation d'agents anti-inflammatoires non stéroïdiens et de stéroïdes comme adjuvants pour la douleur. CONCLUSION: L'acétaminophène, les agents anti-inflammatoires non stéroïdiens et les stéroïdes sont recommandés pour la prise en charge périopératoire de l'amygdalectomie pédiatrique. À l'avenir, les lignes directrices de pratique clinique devraient clarifier davantage l'utilisation sécuritaire des opioïdes en fonction de la gravité de l'apnée obstructive du sommeil et dans le contexte des techniques d'épargne des opioïdes, telles que la dexmédétomidine, la dexaméthasone à forte dose et les gabapentinoïdes. ENREGISTREMENT DE L'éTUDE: PROSPERO (CRD42021253374); soumise pour la première fois le 18 juin 2021.

Acceptability of the Long-Term In-Home Ventilator Engagement virtual intervention for home mechanical ventilation patients during the COVID-19 pandemic: A qualitative evaluation.

Background: Clinical management of ventilator-assisted individuals (VAIs) was challenged by social distancing rules during the COVID-19 pandemic. In May 2020, the Long-Term In-Home Ventilator Engagement (LIVE) Program was launched in Ontario, Canada to provide intensive digital care case management to VAIs. The purpose of this qualitative study was to explore the acceptability of the LIVE Program hosted via a digital platform during the COVID-19 pandemic from diverse perspectives. Methods: We conducted a qualitative descriptive study (May 2020-April 2021) comprising semi-structured interviews with participants from eight home ventilation specialty centers in Ontario, Canada. We purposively recruited patients, family caregivers, and providers enrolled in LIVE. Content analysis and the theoretical concepts of acceptability, feasibility, and appropriateness were used to interpret findings. Results: A total of 40 individuals (2 VAIs, 18 family caregivers, 20 healthcare providers) participated. Participants described LIVE as acceptable as it addressed a longstanding imperative to improve care access, ease of use, and training provided; feasible for triaging problems and sharing information; and appropriate for timeliness of provider responses, workflows, and perceived value. Negative perceptions of acceptability among healthcare providers concerned digital workload and fit with existing clinical workflows. Perceived benefits accorded to LIVE included enhanced physical and psychological safety in the home, patient-provider relations, and VAI engagement in their own care. Conclusions: Study findings identify factors influencing the LIVE Program's acceptability by patients, family caregivers, and healthcare providers during pandemic conditions including enhanced access to care, ease of case management triage, and VAI safety. Findings may inform the implementation of digital health services to VAIs in non-pandemic circumstances.

Volume assured pressure support mode use for non-invasive ventilation in pediatrics.

There has been increasing interest in utilizing volume assured pressure support (VAPS) modes of ventilation for children, which historically had only been favored in adult populations. In addition to patients with obesity hypoventilation syndrome, newer pediatric populations for which it has recently been prescribed include congenital central hypoventilation syndrome and children with neuromuscular disease such as Duchenne muscular dystrophy and spinal muscular atrophy. Given its expanding use in pediatrics, greater familiarity with VAPS is essential for pediatric pulmonologists and sleep physicians. This review article will highlight methods of initiation for this mode, specific ventilator settings, discussion of suitable pediatric patient populations, ventilator titrations via formal polysomnograms and detailed ventilator data downloads specific interpretation. Finally, common challenges to be aware of and how to troubleshoot relevant machine alarms will be reviewed.

Opening the digital front door for individuals using long-term in-home ventilation (LIVE) during a pandemic- implementation, feasibility and acceptability.

Background: The COVID-19 pandemic led to an unprecedented need for virtual healthcare that was safe, acceptable and feasible to deliver. In May 2020, we launched the Long-term In-Home Ventilator Engagement (LIVE) program for ventilator assisted individuals using ventilators hosted on an e-platform in Ontario, Canada. Objectives: To assess the acceptability, appropriateness, feasibility and usability of the LIVE program reported by patients, family caregivers, and healthcare providers (HCP). Design and Methods: We conducted a cross-sectional study. We provided HCPs participating in the LIVE program anonymized questionnaires (Acceptability of Intervention Measure (AIM), Intervention Appropriateness Measure (IAM), Feasibility of Intervention Measure (FIM), and mHealth App Usability (MAUQ). Patients and family caregivers completed the AIM and MAUQ. Questionnaires were administered via an e-platform. Results: We recruited 105/251 (42%) patients and family caregivers and 42/48 (87.5%) HCPs. Patients and caregivers rated a mean (SD) overall AIM score of 4.3 (0.7) (maximum score 5; higher scores indicate greater acceptability) and a mean (SD) overall MAUQ score of 5.8 (1.5) (maximum score 7; higher scores indicate greater useability). HCPs rated a mean (SD) overall AIM score of 4.3 (0.7), IAM score of 4.3 (0.8), FIM score of 4.2 (0.7) and overall MAUQ score of 5.6 ± 1.5. There were no differences in AIM ((4.3 (0.7) vs 4.3 (0.8), p = 1) or MAUQ (5.8 (1.5) vs 5.6 (1.5), p = 0.5) scores between patients/ family caregivers and HCPs. Interpretation: This study suggests that the LIVE program was acceptable, appropriate, feasible, and usable from the perspective of patients, family caregivers and HCPs.

Sleep disordered breathing in infants identified through newborn screening with spinal muscular atrophy.

BACKGROUND: Spinal muscular atrophy (SMA) is a genetic disorder that may result in neuromuscular weakness and respiratory insufficiency. Gene replacement therapy has changed the trajectory of this condition, but long-term outcomes related to sleep disordered breathing are not known. METHODS: This was a retrospective review of infants with SMA identified via newborn screening who subsequently received onasemnogene abeparvovec at the Hospital for Sick Children (Ontario, Canada). Polysomnograms were conducted at the time of confirmed diagnosis as well as regularly thereafter. RESULTS: Eleven children (4 female) were identified via newborn screen (7 with 2 copies of the SMN2 gene and 4 with 3 copies of the SMN2 gene) and received onasemnogene abeparvovec at a median age of 3.6 weeks. All eleven infants met criteria for sleep disordered breathing based on their first completed polysomnograms but improved over time. Three infants required respiratory technology, including a premature infant who was prescribed nocturnal supplemental oxygen therapy for central sleep apnea and two symptomatic infants with neuromuscular weakness who required nocturnal noninvasive ventilation. We did not find a correlation between motor scores and polysomnogram parameters. CONCLUSION: Children treated with onasemnogene abeparvovec have reduced sleep disordered breathing over time. Polysomnograms revealed abnormal parameters in all children, but the clinical significance of these findings was unclear for children who were asymptomatic for sleep disordered breathing or neuromuscular weakness. These results highlight the need to evaluate both motor scores and respiratory symptoms to ensure a holistic evaluation of clinical status.

Respiratory Insufficiency in Neuromuscular Disease (RIND): A Delphi Study to Establish Consensus Criteria to Define and Diagnose Hypoventilation in Pediatric Neuromuscular Disease.

Chronic respiratory failure is a common endpoint in the loss of respiratory muscle function in patients with progressive neuromuscular disease (NMD). Identifying the onset of hypoventilation is critical to allow for the timely introduction of ventilator support and effectively manage respiratory failure [1-3]. While there are accepted criteria governing the diagnosis of hypoventilation during polysomnography (PSG) [4], there is concern that criteria are insufficient for identifying hypoventilation in the earlier stages of respiratory insufficiency related to NMD. The purpose of this project was to identify more sensitive criteria for identifying hypoventilation. METHODS: Fifteen pediatric pulmonologists with broad experience in managing patients with NMD, 10 of whom were board certified in and practice sleep medicine, were assembled and performed a review of the pertinent literature and a two-round Delphi process with 6 domains (Table 1). RESULTS: Within the 6 domains there were three pertinent items per domain (Table 2). There was clear agreement on findings on history (morning headaches) and pulmonary function testing (FVC < 50% or awake TcCO2 > 45 mmHg) indicating a high concern for nocturnal hypoventilation. There was close agreement on the definitions for nocturnal hypercapnia and hypoxemia. PSG criteria were identified that indicate a patient is likely in the transitional phase from adequate ventilation to hypoventilation. DISCUSSION: We identified a set of clinical criteria that may allow for more sensitive diagnosis of hypoventilation in NMD and earlier initiation of non-invasive ventilation leading to a reduction in the respiratory morbidity in progressive NMD. These criteria need to be further and more broadly validated prospectively to confirm their utility.

Caring for children with new medical technology at home: parental perspectives.

OBJECTIVES: This qualitative descriptive study explores the experiences of family caregivers (FCs) of children with medical complexity who are initiated on new medical technology in the hospital and transition to new daily life at home. The study aims to investigate FCs' response and readiness for medical technology use, the value of education and transition support and the challenges associated with managing new medical technology in the home. STUDY DESIGN: A qualitative descriptive approach was used to conduct and analyse 14 semistructured interviews with a group of FCs composed of 11 mothers and 3 fathers. Content analysis was used to analyse transcripts of the caregiver interviews. The study was conducted at a tertiary paediatric hospital in Toronto, Canada. RESULTS: Our study revealed three main themes: FC's response and readiness for medical technology use, the value of education and transition support for initiation of new medical technology and the challenges associated with managing new medical technology in the home. FCs expressed emotional distress related to coping with the realisation that their child required medical technology. Although the theoretical and hands-on practice training instilled confidence in families, FCs reported feeling overwhelmed when they transitioned home with new medical technology. Finally, FCs reported significant psychological, emotional and financial challenges while caring for their technology-dependent child. CONCLUSIONS: Our study reveals the unique challenges faced by FCs who care for technology-dependent children. These findings highlight the need to implement a comprehensive education and transition programme that provides longitudinal support for all aspects of care.

Adenotonsillectomy for obstructive sleep apnea in children with cerebral palsy: Risks and benefits.

OBJECTIVES: To determine outcomes following adenotonsillectomy for obstructive sleep apnea (OSA) and the impact of motor and swallowing impairment on respiratory complications in children with Cerebral Palsy (CP). METHODS: A retrospective review of children with CP and sleep disordered breathing (SDB) who underwent adenotonsillectomy (2003-2021) was performed. Children with CP were age-matched to children without CP. Motor and swallowing function was assessed using the Gross Motor Functional Classification System (GMFCS) and the Eating and Drinking Ability Classification System (EDACS). The primary outcome was postoperative obstructive apnea-hypopnea index (OAHI). Secondary outcomes were cure rate, complications, and need for additional interventions. RESULTS: Ninety-seven children with CP were assessed for SDB, and 74 underwent polysomnography. Moderate or severe OSA was found in 49% (36/74). Adenotonsillectomy was performed in 30% (29/97). All children who underwent adenotonsillectomy experienced an initial reduction in OAHI (31.7/h to 2.9/h, p < 0.0001). Children with CP were less likely to achieve an OAHI<1 compared with children without CP (62.5% vs 81.8%, p = 0.23). Children with CP had more postoperative complications (43.5% vs. 8.7%) and greater odds of respiratory complications compared with children without CP (OR 8.9 95% CI 2.1-37.9). Children with CP and a GMFCS score of 5 and EDACS score between 3 and 5 had more respiratory complications post-adenotonsillectomy compared to those with GMFCS<5 (p = 0.002) and EDACS<3 (p = 0.031). CONCLUSION: Children with CP had an improved OAHI initially following adenotonsillectomy but had higher rates of post-adenotonsillectomy complications. Respiratory complications after adenotonsillectomy were more common in children with motor and swallowing impairment. Findings may provide better preoperative planning for caregivers.

Understanding caregiver experiences with disease-modifying therapies for spinal muscular atrophy: a qualitative study.

OBJECTIVE: Spinal muscular atrophy (SMA) is a neuromuscular disorder that manifests with motor deterioration and respiratory complications. The paradigm of care is shifting as disease-modifying therapies including nusinersen, onasemnogene abeparvovec and risdiplam alter the disease trajectory of SMA. The objective of this study was to explore caregivers' experiences with disease-modifying therapies for SMA. DESIGN: Qualitative study including semistructured interviews with caregivers of children with SMA who received disease-modifying therapies. Interviews were audio recorded, transcribed verbatim, coded and analysed using content analysis. SETTING: The Hospital for Sick Children (Toronto, Canada). RESULTS: Fifteen family caregivers of children with SMA type 1 (n=5), type 2 (n=5) and type 3 (n=5) participated. There were two emerging themes and several subthemes (in parentheses): (1) inequities in access to disease-modifying therapies (variable regulatory approvals, prohibitively expensive therapies and insufficient infrastructure) and (2) patient and family experience with disease-modifying therapies (decision making, hope, fear and uncertainty). CONCLUSION: The caregiver experience with SMA has been transformed by the advent of disease-modifying therapies. Consistent and predictable access to disease-modifying therapies is a major concern for caregivers of children with SMA but is influenced by regulatory approvals, funding and eligibility criteria that are heterogenous across jurisdictions. Many caregivers described going to great lengths to access therapies, highlighting issues related to justice, such as equity and access. This diverse population reflects contemporary patients and families with SMA; their broad experiences may inform the healthcare delivery of other emerging orphan drugs.