Child Disability

When the Internet was in its infancy, we started using web-based methods to collect data internationally and these have now evolved into powerful international rare disease databases.

Our vision for the future is informed by these and by the Australian population-based platforms we have developed in parallel and covers four main areas:

• Use of population based datasets to look at causes and outcomes of developmental disorders, including autism
• Development of registers to understand the natural history of rare childhood disorders, and to improve diagnosis and management
• Investigation of the impact of both rare and common developmental disorders on the health and quality of life of those affected and their families
• Evaluation of clinical interventions as well as the development of outcome measures of clinical trials

By making these visions a reality and through publication of our research outcomes, we strive to improve policy and practices around care of children with all levels of intellectual disability and autism here in Australia and worldwide.

This improvement will provide not only better healthcare and quality of life for affected children and families, but also a platform to stimulate new research, particularly in the treatment of children with rare disorders.

Team Highlights

1. Invited to write a review on Rett syndrome in Nature Neurology Reviews to celebrate 50 years since the first description of Rett syndrome.
2. Developed and validated a measure of quality of life for children with intellectual disability. The measure is called the Quality of Life Inventory - Disability (QI-Disability). This measure is currently being used in a Food and Drug Administration approved clinical trial for the CDKL5 Deficiency Disorder.
3. Summarised previously conducted studies that developed clinical guidelines for scoliosis, gastrointestinal and bone health management into a new online Rett syndrome resource. This initiative is led by Rett Syndrome Europe and the clinical management summaries are currently available in four languages.
4.  Involvement with pharmaceutical companies who are conducting or planning clinical trials (including a gene therapy trial) for individuals with Rett syndrome or the CDKL5 Deficiency Disorder.
5. Completed a trial testing an enriched environment intervention for Rett syndrome in China.
6. In a multicentre epidemiological study being published in the Lancet we were able to demonstrate that conception of the next child within 12 months after a stillbirth was not associated with an increased risk of adverse pregnancy outcomes. The research may have important implications for families who have experienced a stillbirth.
7. In a recent study being published in Pediatrics using linked data from our Intellectual Disability Database we found that children born following Assisted Reproductive Technology have a higher prevalence of intellectual disability, particularly if born very preterm and conceived using intracytoplasmic sperm injection. These results are particularly pertinent to many regions of the world where multiple embryo transfers are routinely performed, resulting in a greater risk of preterm birth, and where ICSI utilization rates are very high.