Quality of Life Measures
Measuring quality of life is important, particularly in clinical trials, to capture the broader impacts of treatment beyond just measuring seizures.
To help understand what outcome measures are and why they are important to spoke to Dr Jenny Downs, Program Head of Disability Research at the Telethon Kids Institute in Perth.
Dr 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.
Ms Kris Pierce RN MHSc MWellness, is a rare disease advocate and mother to Will who has SCN2A. Kris has held a range of board, project management, advocate and consumer representative roles and has been instrumental in working with local, state and federal governments to secure funding for multi-million dollar projects. Kris is highly skilled in building teams to work together collaboratively and is a co-founder of Genetic Epilepsy Team Australia (GETA) and SCN2A Australia, and a RARE Global Advocacy Leadership Council member.