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


Welcome to SCN2A Insights bringing you the latest research and clinical updates on SCN2A and genetic epilepsy from around the world.

Dr. David Cunnington: So welcome to this episode of SCN2A Insights. I’m David Cunnington.

Kris Pierce: And I’m Kris Pierce.

Dr. David Cunnington: And in this episode, we are talking about the quality of life and outcome measures and how to actually measure the quality of life in clinical trials. And this is something that is becoming increasingly important as we look towards treatments because we really need these outcome measures to be broad because we know our children have many more symptoms than just seizures. So we want to go beyond just counting seizures and try to really get a handle on the quality of life.

And you’ve done well. Quality of life outcome measures allow comparisons across conditions which really is important when we then go to look at funding and try and get some of these treatments hopefully if they are effectively funded.

So who did you find for us to talk to?

Kris Pierce: So for this interview, we found Dr. Jenny Downs who is the Program Head of Disability Research at the Telethon Kids Institute in Perth. She leads a lot of research projects there looking at the quality of life and her particularly just has been children with disabilities. She has done a lot of work in rare diseases, particularly with Rett syndrome and also CDKL5 and is currently looking into the quality of life measures within the DEE community. So she was the right person to ask.

Welcome, Jenny. Welcome to our podcast. Can you just tell us a bit about your background and your work?

Dr. Jenny Downs: Thank you. Thank you. It’s great to be here. My clinical background is that I am a physiotherapist. I then launched into a different way of working. I wrote a PhD when my children were little. And after a PhD qualification, I joined the Child Disability Research team here at Telethon Kids Institute and I have been working in this field now for more than 15 years. I work with children with a range of different conditions, many of those conditions are associated with intellectual disability and many of the children we work with, many of the conditions are rare genetic disorders including Rett syndrome, CDKL5 and Prader-Willi syndrome.

So with all of that different work, my vision is that all of these children will have the absolute best quality of life that they will be able to achieve and that is a very strong focus of my work as an outcome.

Dr. David Cunnington: So how do you define quality of life when you’re trying to measure it as an outcome?

Dr. Jenny Downs: Quality of life is a concept that we all know in our hearts. We all know intuitively what quality of life is. And then when we come to define it, it becomes a little bit more challenging but we still have a common understanding that quality of life is a sense of fulfillment, a sense of enjoyment, happiness, all of those sorts of words across a range of different areas of our life, that might be social functioning, it might be our health, it might be our mental health, it might how we are functioning as a person and being independent. It captures a range of different domains of our life. And that is why it is such an important domain because it’s a summary of how well we are living.

We’ve spent time investigating the domains of quality of life that are important for children with intellectual disabilities, and this hasn’t been done before. And we were able to capture important domains that enabled us to create a scale of quality of life for the children. And with the scale, we can then look at what the most important determinants of the child’s quality of life actually are.

So starting with a very broad concept that is about feelings, we can then move to something that we can observe more systematically. And if we can do that then we can understand what is important for a good quality of life.

A related concept to quality of life is the notion of health-related quality of life. And this has many similarities to the concept of quality of life but it is specifically associated with a particular condition, particular comorbidity. For example, we have asthma quality of life scales. We have cystic fibrosis quality of life scales. We have some epilepsy quality of life scales. So that concept relates specifically to the effects of a particular condition or health issue on the person.

Kris Pierce: So what are the impacts of rare epilepsies on quality of life?

Dr. Jenny Downs: There are very many different conditions that are associated with epilepsy and many of those conditions occur rarely. And for all of those conditions, many of them have an underlying genetic cause. And that condition has then affects the child’s impairments, their abilities to function such as their walking, their talking, their behaviours, other aspects of functioning. And it can also have effects on other different health issues.

And by having seizures, depending on how frequent they are or the different types of seizures, can also have an impact on how you can conduct your daily life, so the effects of the rare epilepsies which are very many in terms of how they affect quality of life.

Dr. David Cunnington: So as parents, we don’t live in a world of outcome measures and this type of thing. We live in a world of, “Today was a tough day and really sort of hard to manage.” But why is it important to try and translate that experience of parents and children into measures and outcome measures?

Dr. Jenny Downs: That is a terrific question because it does seem a little bit less related to everyday life. What is an outcome measure? An outcome measure is something that enables us to quantify a characteristic or a set of characteristics such as the characteristics that are included in the concept of quality of life. So that might mean we measure a child’s height or weight or it might mean that we measure the severity of epilepsy or the side effects of epilepsy treatments, or we could measure quality of life.

So, these are important because we need measures to tell us how the child is going clinically, socially in terms of how they’re managing their daily lives, and also, if there are new treatments then we need to be able to evaluate if that treatment has in actual fact made a difference to that child’s health, well-being, or their quality of life.

And really, it’s very clear to us all that treatments are an extremely important part of how we go forward. The equivalents are almost as important but really equally important in evaluation is that you have a strong outcome measure, and that means you really know what the treatment is actually doing for the child. A strong outcome measure will be reliable, it will test what it’s meant to test, and it will also show us change if there has in actual fact been a change.

Dr. David Cunnington: With outcome measures, can you actually then compare like but different conditions? If you get the outcome measures right, can you translate across different disorders to make those comparisons?

Dr. Jenny Downs: Absolutely you can, as long as the outcome measure maps in the words contained in that measure, the questions and the way they rated, as long as they map to another condition, then the outcome measure will be translatable. It helps of course in that development process if an outcome measure is tested in a range of children so that you have that data to inform your decisions in choosing an outcome measure potentially for a clinical trial. Well, even for clinical practice. So – but absolutely if they are developed to cater to a particular set of aspects that you want to measure, outcome measures can be translated across different conditions.

Kris Pierce: What’s the landscape of outcome measures for DEEs?

Dr. Jenny Downs: DEEs, you’re probably all very aware that that’s the initials for Developmental Epileptic Encephalopathies, and many of the rare epilepsies have epilepsy and also some effect on the child’s development as well.

The outcome measures that are available, firstly, there are outcome measures available for epilepsy. We can look at EEGs and evaluate those readings. There are seizure diaries and there are various scales for the severity of seizures and seizure frequency.

There are also some measures available for different motor skills, communication, adaptive functioning. Some of those measures are suitable for many of the DEE conditions but some, it is not clear that they are suitable because some of the children with DEEs may have more difficulties with their development such that the items on the scales may not be as sensitive to changes that maybe occurring. So there is some work to do in the area of functional measures for DEEs.

And then, of course, we come back to this important concept of quality of life. And quality of life, there are lots of measures for quality of life. There are – but there are very few measures that have been developed with children who have developmental difficulties in mind. So many of the items simply do not map and do not show granularity. They do not show the capacity to be able to respond to changes so that we can map progress that is actually occurring.

And I would suggest that we really need to be better able to measure quality of life in relation to epilepsy for children with DEEs. And indeed, this is something that I’m very much wanting to do. I’ve started doing that and I want to continue doing this in the future.

I think what is really important when I reflect over the – that the measures that are available are how they have been developed. And the best measure, listen to the voices of families in building up an extraordinarily rich bank of stories, extracting from those stories to create items for the scale and then go on to test those scales with the usual methods that have been done across most scales.

But really, we’re at the beginning of this story for DEEs. And so, we have the opportunity to do absolutely best practice, listening to the voices of families and really creating something that will be sent in granular and suitable to the children.

Dr. David Cunnington: So as part of your research, you’ve developed some outcome measures on a particular scale. Does it actually being used in clinical trials of new therapeutics in DEEs?

Dr. Jenny Downs: Yes, it has. And just to recap, we’ve developed a quality of life measure for children with different intellectual disabilities. And pharmaceutical companies understand that there is more to evaluate than simply the number of seizures or the frequency of seizures. So they want to know how the child is functioning and how the child is living. Indeed, this is what the FDA and the Food and Drug Administration in the US also want to see in trials that are submitted to them for approval. So it travels down and pharmaceutical companies are extremely interested in broadening the scope of what they measure when they evaluate new medicines.

So, so far, our quality of life scale has been used in two randomized controlled trials for two different Developmental Epileptic Encephalopathies, and so that is very fast progress that speaks to the need for this sort of measure. And a third trial is currently being planned with exactly that same quality of life measure.

So again, pharmaceutical companies are also asking for quality of life measures that are more closely aligned with the health issue of epilepsy.

Dr. David Cunnington: So it sounds like it’s really important to engage closely with families and children to understand how to develop these types of measures. And I understand you’re doing some work already in this area. Are there are things families can do to help and where do you hope to go with some of your research?

Dr. Jenny Downs: There are plenty of things families can do to help. So that’s a terrific question because a measure such as house-related quality of life in relation to rare epilepsies is all about the children. And that means connecting with the children but particularly connecting with parents and caregivers who are observing their children and know their children. They are the experts on their children. And so, reaching to families is the fundamental essence of the ultimate goal of developing a strong outcome measure.

We have started this process. And thank you to Kris and other organizations in Australia who have been advertising our study requesting to connect with families to start with interviews. And that will be the very beginning of our long pipeline of creating the right items. And then when we have a scale, we will be field testing it. And that means testing it for its – how it stands up statistically. And thereafter, we hope that it will be a suitable measure for the clinical trials that are on the horizon and for which we need measures that really can meet the responses in terms of quality of life to those new treatments.

So, we are busy and we have started this process, this pipeline of development and as well as already having started some interviews. And we would welcome the involvement of more families. We have started lots of different grant applications. So we are in the business of finishing this job.

Kris Pierce: Yeah, that’s fantastic. And I guess if there’s anyone out there that’s interested in supporting your work then we will have all the details in our show notes for them to get in contact.

Dr. Jenny Downs: Yes, that would be terrific. Thank you.

Dr. David Cunnington: Thanks very much for your time today, Jenny.

Dr. Jenny Downs: Thank you.

Dr. David Cunnington: So thanks for arranging that interview, Kris. I think Jenny was an ideal person to talk about outcome measures and really seems to be leading the way in this space and making sure these measures are getting incorporated into the clinical trials.

Kris Pierce: Yeah. And it takes a lot of work to do it and so we need the community to get behind it and also the government to understand that this kind of research needs funding.

Dr. David Cunnington: So if you like the podcast, subscribe so that you can continue to get more information about SCN2A and Developmental Epileptic Encephalopathies. Follow us at SCN2A Australia or on Facebook or Twitter @SCN2AAustralia. Thanks a lot.

Kris Pierce: Thank you.

This podcast is not intended as a substitute for your own independent health professional’s advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider within your country or place of residency with any questions you may have regarding a medical condition.