Home mechanical ventilation in children: evolving indications in an era of new treatment options.

Worldwide, there has been a dramatic increase in the use of paediatric home mechanical ventilation (HMV). In this review, we examine this rapid evolution in clinical practice through the prism of two distinct groups of children: those with neurodisability/medical complexity and patients with neuromuscular disease. We illustrate the changes in service provision for these two groups that are driven by a recognition that early intervention with HMV can enhance quality of life for these children and may complement the beneficial effects of novel disease-modifying medications to improve survival.

Home sleep studies in children with neurodisabilities: success rates and parental perception.

https://bit.ly/46t8aWN.

Monitoring of physiologic features and treatment aspects of children on home invasive mechanical ventilation.

Pediatric home invasive mechanical ventilation patients are a small but resource-intensive cohort, requiring close monitoring and multidisciplinary care. Patients are often dependent on their ventilator for life support, with any significant complications such as equipment failure, tracheostomy blockage, or accidental decannulation becoming potentially life-threatening if not identified quickly. This review discusses the indications and variations in practice worldwide, in terms of models of care, including home care provision, choice of equipment, and monitoring.

Pseudo-obstructive sleep disordered breathing - definition and progression in Spinal Muscular Atrophy.

Background: Obstructive sleep disordered breathing (SDB) is prevalent in patients with Spinal Muscular Atrophy (SMA) and possibly reduced by disease modifying treatment (DMT) such as nusinersen. We hypothesized that some obstructive events may in fact be pseudo-obstructive, reflecting the imbalance of chest wall weakness with preserved diaphragmatic function, rather than true upper airway obstruction. If confirmed, these events could represent SMA-specific outcome measures.

Psychosocial impact of the COVID-19 pandemic and shielding in adults and children with early-onset neuromuscular and neurological disorders and their families: a mixed-methods study.

Aim: To describe and evaluate the psychosocial impact of the COVID-19 pandemic and measures to reduce the risk of transmission on patients with early-onset neuromuscular and neurological disorders (NMDs) and their families.

Design: A mixed-methods study in which data were collected between 17 September 2020 and 31 December 2020 using a semi-structured telephone questionnaire developed specifically to meet research aims, and were analysed using quantitative methods and qualitative inductive thematic analysis.

Participants: Forty questionnaires were completed by patients with NMDs (eg, muscular dystrophies, spinal muscular atrophy) or their parent.

The burden of sleep disordered breathing in children with sickle cell disease.

Children with sickle cell disease (SCD) have an increased risk of sleep disordered breathing (SDB) compared with the general pediatric population. There has been a growing research interest on this field in recent years, yet many questions regarding risk factors and clinical implications of SDB remain unclear. The aim of this review is to provide a concise narrative and systematic synthesis of the available evidence on the epidemiology, clinical presentation, complications, and management, of SDB in children with SCD.

Respiratory care in myotubular myopathy.

X-linked myotubular myopathy is a neuromuscular condition caused by pathogenic variants in the gene, which encodes for myotubularin, a phosphatidylinositol 3-phosphate phosphatase. Affected individuals typically require intensive medical intervention to survive, though there are some milder phenotypes. To date, respiratory management has been primarily supportive, optimising clearance of airway secretions, providing ventilatory support and prevention/early intervention of respiratory infections.

Phenotypic variance in pediatric obstructive sleep apnea.

It is crucial that clinicians understand what underpins the considerable phenotypic variance in pediatric obstructive sleep apnea syndrome (OSAS), if they are to implement individually tailored phenotype-based approaches to diagnosis and management. This review summarizes the current literature on how disease severity, comorbidities, genetic and environmental/lifestyle factors interact to determine the overall OSAS phenotype. The first part discusses the impact of these factors on OSAS-related morbidity in the context of otherwise healthy children, whilst the second half details children with complex conditions, particularly focusing on the anatomical and functional abnormalities predisposing to upper airway obstruction unique to each condition.

Exploratory study of the effectiveness of nebulised saline in children with neurodisability.

https://bit.ly/3mSyzag

Transition to Adult Care in Children on Long-Term Ventilation.

The number of children on long-term ventilation (LTV) has exponentially increased over the past few decades. Improvements in management of ventilation coupled with improvements in standards of medical care are increasingly allowing young people on LTV to survive into adulthood. The process of transition from the pediatric to the adult healthcare system is challenging and requires special attention.

Inflammation in children with neuromuscular disorders and sleep disordered breathing.

Introduction: Paediatric obstructive sleep apnoea is associated with systemic inflammation and co-morbidities. We assessed whether sleep disordered breathing (SDB) due to neuromuscular weakness was associated with elevated airway and systemic pro-inflammatory cytokines.

Methods: Consecutive neuromuscular children (age 5-18years) underwent overnight full polysomnography and morning collection of serum and breath condensate, analysed for cytokines (Interleukin-10, Interleukin-6, Interleukin-1β, Tumour Necrosis Factorα, high-sensitivity C-Reactive Protein, Intercellular and Vascular Adhesion Molecules ICAM-1, VCAM-1).

Treatment of Obstructive Sleep Apnea in Children: Handling the Unknown with Precision.

Treatment approaches to pediatric obstructive sleep apnea (OSA) have remarkably evolved over the last two decades. From an a priori assumption that surgical removal of enlarged upper airway lymphadenoid tissues (T&A) was curative in the vast majority of patients as the recommended first-line treatment for pediatric OSA, residual respiratory abnormalities are frequent. Children likely to manifest persistent OSA after T&A include those with severe OSA, obese or older children, those with concurrent asthma or allergic rhinitis, children with predisposing oropharyngeal or maxillomandibular factors, and patients with underlying medical conditions.

The McGill score as a screening test for obstructive sleep disordered breathing in children with co-morbidities.

Background: The McGill score is used to stratify severity of oximetry in children referred for investigation of obstructive sleep apnoea (OSA) to identify those with more severe disease and prioritize treatment. We hypothesized that its positive predictive value (PPV) and negative predictive value (NPV) in detecting OSA differs significantly between children with medical conditions and otherwise healthy children.

Methods: We performed a two-year retrospective analysis of children referred for investigation of OSA who underwent a cardiorespiratory (CR) polygraphy study.

Transition to adult care in young people with neuromuscular disease on non-invasive ventilation.

Background: Long-term mechanical ventilation (LTV) with non-invasive ventilation (NIV) prolongs survival in patients with Neuromuscular Diseases (NMDs). Transition from paediatric to adult healthcare system is an undervalued and challenging issue for children with chronic conditions on mechanical ventilation.

Methods: this retrospective study aims to compare issues of young adults in age to transition to adult care (≥ 15 years old) affected by NMDs on NIV in two different Paediatric Respiratory Units in two different countries: Bambino Gesù Children's Hospital, Research Institute, (Rome, Italy) (BGCH) and the Paediatric Respiratory Unit of the Royal Brompton Hospital (London, UK) (RBHT).

Abnormal pro-gly-pro pathway and airway neutrophilia in pediatric cystic fibrosis.

Background: Proline-glycine-proline (PGP) is a bioactive fragment of collagen generated by the action of matrix metalloproteinase-9 (MMP-9) and prolylendopeptidase (PE), and capable of eliciting neutrophil chemotaxis and epithelial remodelling. PGP is normally then degraded by leukotriene A hydrolase (LTAH) to limit inflammation and remodelling. This study hypothesized that early and persistent airway neutrophilia in Cystic Fibrosis (CF) may relate to abnormalities in the PGP pathway and sought to understand underlying mechanisms.

Hypoventilation disproportionate to OSAS severity in children with Prader-Willi syndrome.

Objective: To test the hypothesis that children with Prader-Willi syndrome (PWS) and obstructive sleep apnoea syndrome (OSAS) have hypercapnia for higher proportion of total sleep time (TST) than non-syndromic children with similar obstructive apnoea-hypopnoea index (OAHI).

Design: Cross-sectional study.

Setting: Two tertiary care hospitals.

Sleep disordered breathing and ventilatory support in children with Down syndrome.

Study Objectives: Obstructive sleep apnoea (OSAS) in children with Down syndrome (DS) is now well recognized, but other forms of sleep disordered breathing (SDB) in this population are less well described. Anecdotally, respiratory support for SDB treatment in this population is not easily tolerated. We aimed to characterize the types of SDB in children with DS referred to a tertiary respiratory center and to assess the effectiveness and adherence to respiratory support.

ERS statement on obstructive sleep disordered breathing in 1- to 23-month-old children.

The present statement was produced by a European Respiratory Society Task Force to summarise the evidence and current practice on the diagnosis and management of obstructive sleep disordered breathing (SDB) in children aged 1-23 months. A systematic literature search was completed and 159 articles were summarised to answer clinically relevant questions. SDB is suspected when symptoms or abnormalities related to upper airway obstruction are identified.