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The list of The Siblings Project publications
The studies this project has conducted
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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
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Funding to support research into the impact of standing wheelchairsThe Kids researchers are investigating the physical and psychological impacts of powered standing wheelchairs for boys suffering from Duchenne
Research
Parent-reported health-related quality of life of children with Down syndrome: A descriptive studyTo describe health-related quality of life of Australian children and adolescents with Down syndrome and compare it with norm-referenced data.
Research
Data Linkage: Canadian and Australian Perspectives on a Valuable Methodology for Intellectual and Developmental Disability ResearchBuilding data linkage capabilities, and how linked databases can be used to identify persons with IDD and used for population-based research
Research
A framework for understanding quality of life domains in individuals with the CDKL5 deficiency disorderThis study aimed to identify the quality of life domains important for individuals with CDKL5 deficiency disorder
Research
Apgar score and risk of autismThis study suggests that low Apgar score is associated with higher risk of autism spectrum disorder, and in particular autistic disorder
Research
Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency DisorderCDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to be a developmental and epileptic encephalopathy because of the early onset of seizures in association with severe global delay. Other features include cortical visual impairment, sleep and gastro-intestinal problems. Progress in clinical understanding, especially regarding the spectrum of functional ability, seizure patterns, and other comorbidities was initially slow but accelerated in 2012 with the establishment of the International CDKL5 Database (ICDD). Our aim was to use this data source to investigate quality of life (QOL) and associated factors in this disorder.