A Prof Jenny Downs
A Prof Jenny Downs is Program Head of Disability Research at the Telethon Kids Institute in Perth, Western Australia where she leads research programs that work towards improving quality of life outcomes for children with disability and their families. Her current program includes research on rare disorders including Rett syndrome, the CDKL5 Deficiency Disorder, MECP2 Duplication syndrome and Prader-Willi syndrome, as well as Down syndrome, autism and cerebral palsy. Dr Downs has led the development of a quality of life measure for children with intellectual disability, the Quality of Life Inventory–Disability. She has started a new program of research to develop a companion quality of life measure for epilepsy-related issues in children with Developmental Epileptic Encephalopathies. She is driven by a vision of what success looks like for both children and their families, which, over the short and long term, includes living with a strong quality of life.
Topic for Genetic Epilepsy Conference 2022: Achieving clinical trial readiness for the measurement of quality of life in DEEs by looking beyond seizures.