Search
Research
Characterising quality of life and its determinants for children with intellectual disability and their familiesAndrew Helen Jenny Peter Videos Whitehouse Watch and listen to Andrew Leonard Downs Jacoby PhD MBChB MPH BApplSci (physio) MSc PhD BA (Hons) MSc
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
Environmental enrichment intervention for Rett syndrome: an individually randomised stepped wedge trialHelen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763
The list of The Siblings Project publications
The studies this project has conducted

Participate in The Sibling Snapshot Project! <!-- [if gte mso 9]> <![endif]--> <!-- [if gte mso 9]> Normal 0 false false false EN-AU X-NONE X-NONE <!
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

News & Events
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
Septo-optic dysplasia and gastroschisis: trends in birth prevalence and association with maternal ageThis study aims to describe the risk factors and trends in birth prevalence of septo-optic dysplasia (SOD) and gastroschisis between 1980 and 2023. This descriptive, population-based study of SOD and gastroschisis used Western Australian Register of Developmental Anomalies data from 1980 to 2023. Birth prevalence was calculated using Midwives Notification System data for all births after 20 weeks gestation.
Research
The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes for Rare Diseases: A Pilot Study of Goal Attainment Scaling in SCN2A-AssociatedFor individuals living with rare neurodevelopmental disorders, particularly those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes.