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Showing results for "early life"
Research
Perspectives on hand function in girls and women with Rett syndromeHand function is particularly affected and we discuss theoretical and practical perspectives for optimising hand function in Rett syndrome.
News & Events
Seven innovative lung health research projects supported by Wal-yan Centre fundingSeven innovative lung health research projects have received funding support as the 2023 Wal-yan Respiratory Research Centre Strategic Inspiration Projects.
Research
International CDKL5 Disorder DatabaseHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763
For pregnant Aboriginal women living in WA’s East Pilbara, significant issues systematically impede their pregnancy journey and a safe and healthy start to life for their babies.
Research
"What about us?"- the drawbacks of current bruxism assessment criteria in evaluating vulnerable groupsJenny Helen Kingsley Downs Leonard Wong BApplSci (physio) MSc PhD MBChB MPH MBBS, MPH, MMedStat Head, Child Disability Principal Research Fellow
Research
What does better look like in individuals with severe neurodevelopmental impairments? A qualitative descriptive study on SCN2A-related developmental and epileptic encephalopathyThere are limited psychometric data on outcome measures for children with Developmental Epileptic Encephalopathies (DEEs), beyond measuring seizures, and no data to describe meaningful change. This study aimed to explore parent perceptions of important differences in functional abilities that would guide their participation in clinical trials.
Research
Down Syndrome Clinical Trial- BTD-001Helen Jenny Peter Leonard Downs Richmond MBChB MPH BApplSci (physio) MSc PhD MBBS MRCP(UK) FRACP Principal Research Fellow Head, Child Disability
Research
Using ambulatory monitoring to investigate awake breathing irregularities in Rett syndrome in Australian population-based and Italian clinic samplesHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763
Research
Trends in the diagnosis of Rett syndrome in AustraliaModifications to diagnostic criteria and introduction of genetic testing have likely affected the pattern and timing of Rett syndrome diagnosis...
Research
Longitudinal hand function in Rett syndromeLoss of hand function is a core feature of Rett syndrome. This article describes longitudinal hand function at 3 time points for 72 subjects participating...