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Showing results for "Childhood interstitial lung disease "

The natural history of the MECP2 Duplication disorder: Australian surveillance and plans for development of an international register

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763

CDKL5 variants: Improving our understanding of a rare neurologic disorder

Providing new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data.

Functional skills in MECP2 duplication syndrome: developmental dynamics and regression

MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or lose fundamental functional skills (gross motor, purposeful hand function and communication) - that of which this study aimed to better characterise in the largest case series to date.

Papers and Publications

Publications, papers and findings coming out of ORIGINS and its sub-projects

Mandatory vaccination and no fault vaccine injury compensation schemes: An identification of country-level policies

Countries that mandate childhood vaccination without providing no fault compensation schemes could be seen as abrogating the social contract

Socio-economic inequality underpins inequity in influenza vaccination uptake between public and private secondary schools: an Australian population-based study

Socio-economic inequality and vaccination inequity have long been critical issues. However, no studies have explored the gap in influenza vaccination uptake between public and private schools. Importantly, the extent to which socio-economic inequality translates into vaccination uptake inequity has not been quantified.

Changes in risk factors for preterm birth in Western Australia 1984-2006

Marked increases in maternal age and primiparous births were observed. A four-fold increase in the rates of pre-existing medical complications over time...

Western Australian emergency department presentations related to child maltreatment and intentional injury

To determine the proportion of child maltreatment-related emergency department presentations in WA and describe the types of injuries associated with them.

Maltreatment risk among children with disabilities

Supports are needed for families with children with disabilities to assist in meeting the child's health and developmental needs, but also to support the parents in managing the often more complex parenting environment.