Search
Research
Description of Total Population Hospital Admissions for Treacher Collins Syndrome in AustraliaTo describe patterns and demographic characteristics of total-population hospital admissions with a diagnosis of Treacher Collins syndrome (TCS) in Australia.
AuStralian Collaboration to Enhance Neuro-Development
Research
Psychometric properties of the Quality of Life Inventory-Disability (QI-Disability) measureInitial evaluation suggests that QI-Disability is a reliable and valid measure of quality of life across the spectrum of intellectual disability
Research
Conceptualizing a quality of life framework for girls with Rett syndrome using qualitative methodsExisting quality of life scales for children in the general population or with other disabilities did not capture the QOL of children with Rett syndrome
Research
Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorderEpilepsy is pervasive but not mandatory for the CDKL5 disorder, and genotype and functional abilities were related to seizure frequency
Research
Propulsion strategy in the gait of primary school children; the effect of age and speedAnkle and hip power generation as a propulsion strategy during the late stance/early swing phases of walking and running in typically developing children
Research
Changes in caesarean delivery rates in Western Australia from 1995 to 2010 by gestational age at birthThe objective of this paper was to measure changes in caesarean delivery rates for primiparous women in Western Australia during 1995–2010 stratified by...
Research
Multi-site validation of a suite of clinical outcome measures for clinical trial readiness in the CDKL5 Deficiency DisorderHelen Jenny Peter Leonard Downs Jacoby MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc Principal Research Fellow Head, Child Disability
Research
The natural history of the MECP2 Duplication disorder: Australian surveillance and plans for development of an international registerHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763
The Sibling Project focuses on children, adolescents and emerging adults who have a sibling with a disability, investigating their mental health, relationships and quality of life.