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MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or lose fundamental functional skills (gross motor, purposeful hand function and communication) - that of which this study aimed to better characterise in the largest case series to date.
Preterm birth is increasingly recognised as adversely influencing lifelong lung function. This Series paper on prematurity-associated lung disease reviews studies reporting longitudinal lung function measurements in individuals who were born preterm. Evidence suggests that preterm birth alters lung function trajectories from early life onwards, with implications for future respiratory morbidity. We propose that this population needs rigorous follow up that should include systematic monitoring of lung function across the lifespan, starting in childhood.
During exacerbations, when symptom and treatment burden are increased, individuals with cystic fibrosis (CF) are likely to prefer airway clearance techniques (ACTs) that require minimal effort. Therefore, in adults with CF who were hospitalised with an exacerbation, we sought to compare the effect of the MetaNeb with usual ACTs on respiratory function and expectorated sputum.
Autistic adolescents are vulnerable to sleep difficulties, with up to 80 % experiencing sleep problems, most commonly insomnia. Little is known about how autistic adolescents are involved in their own sleep treatment, and their depth of knowledge about their sleep difficulties. The aims of this study were to investigate autistic adolescent and parent perspectives of experiencing and managing insomnia, and what factors influence the development of these perspectives on insomnia and treatment.
Research into the potential health impacts of vaping is starting to back up concerns that electronic cigarettes (e-cigarettes) are not as benign as many people think.
Lung function testing and lung imaging are commonly used techniques to monitor respiratory diseases, such as cystic fibrosis (CF). The nitrogen (N2) multiple-breath washout technique (MBW) has been shown to detect ventilation inhomogeneity in CF, but the underlying pathophysiological processes that are altered are often unclear.
The respiratory outcomes for adult survivors of preterm birth in the postsurfactant era are wide-ranging with prognostic factors, especially those encountered after the neonatal period, poorly understood.
This study explored how children and adolescents with a neuromuscular disorder (NMD) and their parents experienced barriers and enablers to the child's participation.
The multiple breath nitrogen washout (N2MBW) technique is increasingly used to assess the degree of ventilation inhomogeneity in school-aged children with lung disease. However, reference values for healthy children are currently not available.
Despite advances in asthma therapeutics, the burden remains highest in preschool children; therefore, it is critical to identify primary care tools that distinguish preschool children at high risk for burdensome disease for further evaluation.