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Research
Early development and regression in Rett syndromeOur findings provide additional insight into the early clinical profile of Rett syndrome.
Research
The phenotype associated with a large deletion on MECP2Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.
Research
To Feel Belonged: The Voices of Children and Youth with Disabilities on the Meaning of WellbeingThe aim of this paper was to describe the meaning of wellbeing for children and youth with disabilities from their perspective.
Research
It's not what you were expecting, but it's still a beautiful journey: The experience of mothers of children with Down syndromeThe purpose of this study was to describe qualitatively the experience of parenting for mothers of a child with Down syndrome and to explore spirituality.
Research
Total population investigation of dental hospitalizations in Indigenous children under five years in Western Australia using linked dataThe aim of this study was to compare dental hospital admissions in a total state birth population of Indigenous and non-Indigenous children aged under five...
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.
National Siblings Day is a holiday dedicated to celebrating the bond between siblings. It is a time to recognize the importance of siblings, whether they are brothers, sisters, step-siblings, or even those who feel like family.
We want to hear from siblings living outside of Australian cities!