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Information on the hospital service use among individuals with CDKL5 Deficiency Disorder, an ultrarare developmental epileptic encephalopathy, is limited, evidence of which could assist with service planning. Therefore, using baseline and longitudinal data on 379 genetically verified individuals in the International CDKL5 Disorder Database, we aimed to investigate rates of seizure-related and other hospitalizations and associated length of stay in this cohort.
This study evaluated the clinical utility of the Parent Listening and Understanding Measure (PLUM) questionnaire as a potential screening tool for otitis media (OM) and associated hearing loss in Aboriginal and/or Torres Strait Islander and non-Aboriginal children.
A considerable proportion of patients with type 1 diabetes (T1D) experience emotional problems due to the continual demands of the disease, which may persist throughout life without appropriate support. The aim of this study was to assess the feasibility and acceptability of an Acceptance and Commitment Therapy (ACT) intervention and provide early indications of its capacity to impact psychosocial outcomes for adolescents with T1D.
To determine the efficacy of advanced hybrid closed-loop therapy in a high-risk cohort of youth on continuous subcutaneous insulin infusion with or without continuous glucose monitoring with suboptimal glycemia.
Virtual reality is used as a distraction tool during medical procedures that can cause anxiety and pain. We assessed the usefulness, engagement, value and feasibility of virtual reality to help children cope with routine clinical procedures.
Expression of the compact mitochondrial genome is regulated by nuclear encoded, mitochondrially localized RNA-binding proteins (RBPs). RBPs regulate the lifecycles of mitochondrial RNAs from transcription to degradation by mediating RNA processing, maturation, stability and translation. The Fas-activated serine/threonine kinase (FASTK) family of RBPs has been shown to regulate and fine-tune discrete aspects of mitochondrial gene expression.
Estimate the global prevalence of neurodevelopmental impairment in children with Robin sequence (RS) at one year or more of age.
Maternal exposure to per- and polyfluoroalkyl substances (PFAS) has been linked to child neurodevelopmental difficulties. Neuroimaging research has linked these neurodevelopmental difficulties to white matter microstructure alterations, but the effects of PFAS on children's white matter microstructure remains unclear.
LGBTQA+ individuals are at increased risk of experiencing psychosis and face barriers in accessing appropriate and timely mental health support. This scoping review maps the existing literature to identify barriers and facilitators to access and engagement to care for LGBTQA+ people across the psychosis spectrum.
To describe the infant and maternal characteristics of the Early Moves cohort and to assess representativeness to the general population, and to evaluate the implementation fidelity of an application-based collection of General Movement Assessment (GMA) videos at writhing and fidgety age.