Search
Research
The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacyGermline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide clinical spectrum characterized by distinct facial features, short stature, predisposition to cancer, and variable anomalies in nearly all the major body systems.
Research
The NDIS at ten years: designing an equitable scheme for the next decadeJenny Downs BApplSci (physio) MSc PhD Head, Child Disability 08 6319 1763 Jenny.Downs@thekids.org.au Head, Child Disability Areas of research
Research
Stability and change in self-reported risk and resilience factors associated with mental health of siblings of individuals with and without neurodevelopmental conditions over 15 monthsSiblings of individuals with neurodevelopmental conditions (NDCs) are a minority population at higher genetic and environmental risk of poorer neurocognitive and psychosocial outcomes compared to siblings of individuals without NDCs.
Research
Trends in prenatal diagnosis of congenital anomalies in Western Australia between 1980 and 2020: A population-based studyAdvances in screening and diagnostics have changed the way in which we identify and diagnose congenital anomalies.
Research
Continuous electroencephalography in the intensive care unit: A critical review and position statement from an Australian and New Zealand perspectiveThis 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.
Research
From guidelines to practice: A retrospective clinical cohort study investigating implementation of the early detection guidelines for cerebral palsy in a state-wide early intervention serviceTo report on knowledge translation strategies and outcomes from the implementation of the early detection guidelines for cerebral palsy (CP) in a state-wide tertiary early intervention (EI) service and investigate the impact of social determinants on clinical services.
Research
A systematic review of the biological, social, and environmental determinants of intellectual disability in children and adolescentsThis systematic review aimed to identify the most important social, environmental, biological, and/or genetic risk factors for intellectual disability.
Research
Dental procedures in children with or without intellectual disability and autism spectrum disorder in a hospital settingThis population-based cohort study investigated dental procedures in the hospital setting in Western Australian children with or without intellectual disability (ID) and/or autism spectrum disorder (ASD) aged up to 18 years.
Research
Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based studyAccurate knowledge of the relationship between craniofacial anomalies (CFA), intellectual disability (ID) and autism spectrum disorder (ASD) is essential to improve services and outcomes. The aim is to describe the association between CFA, ID and ASD using linked population data.
Research
Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndromeIndividuals with Prader-Willi syndrome (PWS) often have excessive daytime sleepiness and emotional/behavioral disturbances. The objective of this study was to examine whether daytime sleepiness was associated with these emotional/behavioral problems, independent of nighttime sleep-disordered breathing, or the duration of sleep.