For more than 22 years, Elizabeth Roof has been researching Prader-Willi Syndrome (PWS), and working with those who have the disorder and their families. In her role as a senior research specialist at the Vanderbilt Kennedy Center in Nashville, Tenn., she's studied a variety of topics related to PWS, ranging from the effect of drugs used in treatment to behavioral interventions.
“We’re coming from a unique perspective in that we are able to understand [families of people with PWS] and support them in ways that other people can’t because they can’t understand the syndrome,” Roof says. Her work aims to improve the quality of life for those with PWS and their families, and hopefully pave the way for those with the disorder to live more independently down the line.
Roof will be speaking at the Foundation for Prader-Willi Research Conference in Indianapolis August 25-27. In the interview below, she previews some of the exciting PWS research she’ll discuss during her talk.
What is your role at Vanderbilt Kennedy Center?
I direct a number of research programs, most specifically with PWS. I run longitudinal studies looking at behavior and development in PWS, and how things change over time as people grow and develop. We’ve run drug studies, we’ve run clinical trials, and now we’re doing a social skills intervention for teens and adults with PWS. We’re kind of “all things PWS” here in our research lab, working with [Vanderbilt Kennedy Center Director] Elisabeth Dykens. We’re very interested in how we can improve quality of life, social skills and general ability of people with PWS to get along with others.
How did you become interested in researching PWS?
Like a lot of people, I fell into it. I had been working at a psychiatric hospital doing evaluations and therapy for four years when a friend of mine suggested I apply for a job at the Vanderbilt Kennedy Center, which had just gotten a new grant for a big PWS program project. I talked to the principal investigator who said multiple people started then quit within a month because people with PWS are pretty difficult. That was in 1995 and I’ve been here ever since. For me, it was challenging but it was a really unique and interesting challenge.
Since then, I’ve gotten fond of the people we see and also their families. The challenges mean that lot of the families feel isolated and like nobody really understands them. We’re coming from a unique perspective in that we are able to support them in ways that other people can’t because they can’t understand the syndrome.
What is your main current research focus?
We have this virtual online social group that looks kind of like the Brady Bunch — you have these faces arranged in tiles on a computer. They can see us, we can see them. We’re working specifically on [helping those with PWS] identify emotions and be able to tell how other people are feeling by the tone of their voice, their body language, their facial expressions. People with PWS are really not very good at that. Like people with autism, they struggle to read emotions and understand how people are feeling. Because of that, they often make assumptions that are wrong. It makes it difficult to initiate friendships and to have friendships with other people. They tend to have their own motivations and not think of how others are thinking or feeling. One of the biggest parts of this project is to help them understand how other people are feeling and thinking so that they can respond appropriately in social situations.
We set them up so that they watch people in videos and toward the end of the session sometimes we’re acting things out or they are interacting with each other. It’s nice for them to be able to put into practice the things they’ve seen other people do almost through role-playing. Then they do those things with other people in the group to build on those social skills.
We have this interaction for 10 solid weeks, three times a week. At the end of this time, we ask them to interact with a graduate student in something simulating a regular social situation. They make something like a Skype call and ask them questions and interact with them to see if the skills are better at the end versus the beginning.
We’re about halfway through our recruitment and groups. We’re definitely seeing people who are initiating more conversations, they’re able to take perspective and put themselves in someone else’s shoes when it comes to conversations and social interactions. The other thing we’re seeing is people able to self-soothe and calm themselves down so they don’t act out of anger or criticize and say negative things about other people. We’re trying to really focus on these things that make us good friends — understanding how people feel and responding appropriately. In the groups, we’re seeing some changes there, where people are becoming much more appropriate and socially interactive in a way that’s on par more with people who are more typical. People with PWS sometimes struggle a lot socially. They have their own agenda sometimes for what they want and need and it’s hard for them to think about what they want or need.
A lot of teens and adults, especially as they’re aging out of school programs, really don’t have a lot of social connections. That was part of the impetus for having this study. A lot of the people that we see talk about how they don’t have any friends, they don’t have any people that they talk to and interact with regularly in social groups. We thought if we did this online, we wouldn’t have to worry about proximity, transportation and some of the other issues we have to deal with. Toward the end they’re able to stay in touch via something we set up that’s kind of like an Instagram to hopefully continue these social connections. I loved at the end of this last session, saying goodbye. Each person had to think of something about each person in the group that they liked or that they learned from that person. It was really neat to hear what they learned and what they thought about other people and it was really great for the person hearing all the nice, positive feedback. It was a great way to end and hopefully people will keep in touch with each other because people with PWS really are isolated socially in a lot of ways.
What challenges do parents face when a child receives a PWS diagnosis?
It’s very overwhelming to know that your child has a genetic syndrome. So, like Down Syndrome, PWS doesn’t go away. Your kid doesn’t grow up to age 18 and suddenly they’re through it. It’s life-long management. Some of the behaviors are pretty intense. As parents, you’re dealing with aggression or food behaviors or tantrums or compulsion. They don’t go away.
You’re managing PWS day in and day out. For parents that are doing that well, they find that their kids go into another stage of development and suddenly problems that weren’t such a big deal are a big deal now, be it sexuality, be it independence, things like that.
What helps them navigate those challenges?
It’s important that parents don’t feel isolated and alone. They need support groups and people who understand where they’re coming from. That’s the nice thing that the Foundation for Prader-Willi Research is doing with their conference. It connects other parents with each other and they don’t feel alone. They’re also looking not to feel like you’re a bad parent. That’s something a lot of parents say, that other people judge them. If your kid is having a meltdown in a hotel lobby or a restaurant, people think: “That parent should get a grip and discipline that kid!” But these kids are pretty difficult to manage and parents often feel judged and it’s really hard.
What are some of the most exciting areas of PWS research?
The thing that I’m most interested in is that there are several drug companies that are looking for therapeutics for PWS, be it hunger issues or behavior issues. If we can help manage some of the behavior and things like that and have these drugs that can kind of change the outcome for people with PWS, that’s what I’m most interested in. If we can find a way for people to live independently with better quality of life and better outcomes, a lot of parents would feel a lot less stressed. It would ultimately be a lot less stressful for families, knowing that even if they have to provide life-long support, maybe the level of support wouldn’t be so hard.
Having to control everything [the person with PWS] eats, everything they do, their transportation — there’s not one aspect of their lives that their families don’t have to think about. Are they being monitored, are they being supported, are they being supervised? They can’t manage their interest in food and their hunger. For us, the idea that drugs could make their hunger and their behavior more manageable means that they could be more independent. Maybe they could have a job or live in some kind of supported living situation. Maybe they could have friends or social activities and don’t have to be limited or supervised 24 hours a day. For us, the idea that these therapies coming down the pike could be a huge part of them living a more normal life.