Quality of Life Measures

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. 

You can listen to and subscribe to the SCN2A Insights podcast via Apple Podcasts,  Spotify, and Google Podcasts or in your podcast app.

Guest interview:

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. 

Regular Hosts:

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.

Follow Kris on LinkedIn or Twitter.

Dr David Cunnington is a sleep physician and father to Will who has SCN2A. He is director of Melbourne Sleep Disorders Centre, and co-founder and contributor to SleepHub. David trained in sleep medicine both in Australia and at Harvard Medical School in the United States. David’s clinical practice covers all areas of sleep medicine and he is actively involved in training health professionals in sleep. David is a regular commentator on sleep, both in traditional and social media.
Follow David’s posts on sleep on Facebook or Twitter


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