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Advances in screening and diagnostics have changed the way in which we identify and diagnose congenital anomalies.
The diagnostic odyssey for people living with rare diseases (PLWRD) is often prolonged for myriad reasons including an initial failure to consider rare disease and challenges to systemically and systematically identifying and tracking undiagnosed diseases across the diagnostic journey.
MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder resulting from the duplication of the methyl-CpG-binding protein 2 (MECP2) gene. The clinical features of MDS include severe intellectual disability, global developmental delay, seizures, recurrent respiratory infections, and gastrointestinal problems. The aim of this qualitative study was to explore how the parents of children with MDS manage their child's seizures, recurrent respiratory infections, and gastrointestinal symptoms, and the impact on them as parents.
Determining the association between drug use and suicide is complicated but can help to inform targeted suicide prevention strategies.
To establish the burden of respiratory illness in cerebral palsy (CP) on the Western Australian health care system by quantifying the costs of respiratory hospitalizations in children with CP, compared with non-respiratory hospitalizations.
Estimates of the prevalence of intellectual disability or autism spectrum disorder may vary depending on the methodology, geographical location, and sources of ascertainment. The National Disability Insurance Scheme in Australia was introduced progressively from 2016 to provide individualized funding for eligible people with a significant and permanent disability.
Energy drinks (EDs) are not recommended for minors' consumption due to a myriad of health risks, but marketing initiatives persist. This study explored the promotion of EDs on TikTok, a platform frequented by children and adolescents.
Fetal Alcohol Spectrum Disorder (FASD) is characterised by a range of neurodevelopmental deficits that may increase risks of justice system involvement. Improving our understanding of criminogenic risk factors and particularly the role of informant-rated executive functioning (EF) in predicting the age of offending onset in this clinical population may reduce recidivism and help inform targeted interventions.
This pre-registered systematic review synthesised and evaluated the existing literature on self-reported mental health and wellbeing of siblings of individuals with neurodevelopmental conditions.
This article aims to critically review the literature on continuous electroencephalography (cEEG) monitoring in the intensive care unit (ICU) from an Australian and New Zealand perspective and provide recommendations for clinicians. Design and review methods: A taskforce of adult and paediatric neurologists, selected by the Epilepsy Society of Australia, reviewed the literature on cEEG for seizure detection in critically ill neonates, children, and adults in the ICU.