Head of Disability Health and Wellbeing, Telethon Kids Institute, Perth, Western Australia
Dr Jenny Downs is a physiotherapist and now researcher since completing her PhD in 2003. Always interested in research, she previously conducted two randomised controlled, one in her clinical career, prior to beginning work in 2005 with the Child Disability Group at the Telethon Kids Institute in Perth. Overall, she is working towards improving our understanding about disability in childhood and outcomes for affected children and their families. Firstly, she is investigating rare disorders including Rett syndrome, the CDKL5 Disorder, the MECP2 Duplication Syndrome, Duchenne muscular dystrophy and Early Onset Scoliosis, disorders that each has devastating impacts on affected children and their families. She is working to build and maintain disorder-specific databases that can provide the data to understand their natural history. Secondly, she is developing a quality of life measure for children with intellectual disability which will enable subsequent high quality studies on what factors contribute to the best quality of life for these children and how we can improve their quality of life. Thirdly, she is working to identify new intervention opportunities including environmental enrichment for young girls with Rett and a comprehensive investigation of clinical outcomes following gastrostomy for children with feeding difficulties.