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The diagnostic odyssey for children living with a rare disease – Caregiver and patient perspectives: A narrative review with recommendations

Children living with a rare disease often endure a lengthy journey to diagnosis, commonly referred to as a diagnostic odyssey. This journey significantly impacts their physical, mental and financial wellbeing, in addition to that of their families. The diagnostic odyssey is often characterised by anxiety and stress surrounding the uncertainty of the future. This is experienced by the patient as well as by the family.

Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study

CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials. 

Clinical predictors of hypoxic pneumonia in children from the Eastern Highlands Province, Papua New Guinea: secondary analysis of two prospective observational studies

Pneumonia is the leading cause of death in young children globally and is prevalent in the Papua New Guinea highlands. We investigated clinical predictors of hypoxic pneumonia to inform local treatment guidelines in this resource-limited setting.

Codesigning enhanced models of care for Northern Australian Aboriginal and Torres Strait Islander youth with type 2 diabetes: study protocol

Premature onset of type 2 diabetes and excess mortality are critical issues internationally, particularly in Indigenous populations. There is an urgent need for developmentally appropriate and culturally safe models of care. We describe the methods for the codesign, implementation and evaluation of enhanced models of care with Aboriginal and Torres Strait Islander youth living with type 2 diabetes across Northern Australia. 

Non-severe thermal burn injuries induce long-lasting downregulation of gene expression in cortical excitatory neurons and microglia

Burn injuries are devastating traumas, often leading to life-long consequences that extend beyond the observable burn scar. In the context of the nervous system, burn injury patients commonly develop chronic neurological disorders and have been suggested to have impaired motor cortex function, but the long-lasting impact on neurons and glia in the brain is unknown.

Introducing the Cochrane Nutrition & Physical Activity Thematic Group

Improving nutrition and physical activity is a global health priority. Within Cochrane’s new production model, Thematic Groups (TG) with specialist content and review methods expertise have been established. The purpose of TGs is to support the development and dissemination of high-quality evidence syntheses on priority issues.

Does somatosensory discrimination therapy alter sensorimotor upper limb function differently compared to motor therapy in children and adolescents with unilateral cerebral palsy: study protocol for a randomized controlled trial

Besides motor impairments, up to 90% of the children and adolescents with unilateral cerebral palsy (uCP) present with somatosensory impairments in the upper limb. As somatosensory information is of utmost importance for coordinated movements and motor learning, somatosensory impairments can further compromise the effective use of the impaired upper limb in daily life activities. 

A health inequality analysis of childhood asthma prevalence in urban Australia

Long-standing health inequalities in Australian society that were exposed by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic were described as "fault lines" in a recent call to action by a consortium of philanthropic organizations. With asthma a major contributor to childhood disease burden, studies of its spatial epidemiology can provide valuable insights into the emergence of health inequalities early in life.

Medical Exemptions to Mandatory Vaccinations: The State of Play in Australia and a Pressure Point to Watch

Australia’s mandatory vaccination policies have historically allowed for non-medical exemptions, but this changed in 2016 when the Federal Government discontinued non-medical exemptions for childhood vaccination requirements. Australian states introduced further mandatory vaccination policies during the COVID-19 pandemic for a range of occupations including healthcare workers.

PI3K/mTOR is a therapeutically targetable genetic dependency in diffuse intrinsic pontine glioma

Diffuse midline glioma (DMG), including tumors diagnosed in the brainstem (diffuse intrinsic pontine glioma; DIPG), are uniformly fatal brain tumors that lack effective treatment.