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Development of an International Database for a Rare Genetic Disorder: The MECP2 Duplication Database (MDBase)

The natural history of MECP2 duplication syndrome (MDS), a rare X-linked neurodevelopmental disorder with an estimated birth prevalence of 1/150,000 live births, is poorly understood due to a lack of clinical data collected for research. Such information is critical to the understanding of disease progression, therapeutic endpoints and outcome measures for clinical trials, as well as the development of therapies and orphan products.

Learning to cope with uncertainty

A small group program to help parents tackle anxiety in young children diagnosed with autism has found significant improvements in both children’s anxiety and parental mental health and wellbeing.

Child protection involvement of children of mothers with intellectual disability

Children born to parents with intellectual disability (ID) have been shown as disproportionally represented in child protection services however with limited population-based research.

Intellectual disability in children conceived using assisted reproductive technology

The risk of intellectual disability was increased in children born after assisted reproductive technology in Western Australia from 1994 to 2002

An investigation of the determinants of quality of life in adolescents and young adults with Down syndrome

Quality of life of young people with Down syndrome was most negatively associated with burden of medical conditions, but also with lack of friendships

Use of health services in the last year of life and cause of death in people with intellectual disability: a retrospective matched cohort study

People with intellectual disability were more likely to experience potentially preventable conditions at the end of their lives

We examined the impact of introducing a dedicated team to OPAT, to define the role of increased medical oversight in improving patient outcomes in this cohort.

To evaluate the risk of stillbirth, PTB, and SGA as a proxy for FGR following exposure to one or more of these factors in a previous birth.

Risk of Mortality into Adulthood According to Gestational Age at Birth

To quantify the independent risks of neonatal, postneonatal, 1 to 5 and 6 to 30 year mortality by gestational age and investigate changes in survival over time.

Twenty-five-year survival for aboriginal and caucasian children with congenital heart defects in Western Australia, 1980 to 2010

Long-term survival was lower for Aboriginal children with congenital heart defects

Young people with intellectual disability transitioning to adulthood: Do behaviour trajectories differ in those with and without down syndrome

Changes in emotional and behavioural problems for young people with intellectual disability with and without Down syndrome as they transition into adulthood