These resources include the best available evidence about the course of Rett syndrome and its management as well as practical information about family associations, specialist clinical centres and links to relevant websites.
Study 1: Stahlhut, M., Esbensen, B. A., Larsen, J. L., Bisgaard, A. M., Downs, J., & Nordmark, E. (2019). Facilitators and Barriers of Participation in "Uptime" Activities in Girls and Women With Rett Syndrome: Perspectives From Parents and Professionals. Qual Health Res, 29(4), 609-619. doi:10.1177/1049732318803358
What is sedentary time?
Sedentary time is time spent sitting or lying down.
What is uptime?
Uptime is time spent standing and walking.
What did our first research study aim to find out?
We asked the people who live and work with girls and women with Rett syndrome:
What helps her to participate more in uptime activities?
What makes it hard for her to participate more in uptime activities?
Who were the participants in our first research study?
The participants in this study all lived in Denmark. They included:
9 parents of girls and women with Rett syndrome,
4 care assistants of girls and women with Rett syndrome,
7 professionals who worked in schools with girls with Rett syndrome, and
5 professionals who worked at day centres with women with Rett syndrome.
How did we collect the information from these participants?
We held focus groups. A focus group is a small group of people who are interviewed at the same time. It means that they can discuss the questions with each other as they answer them.
What was the most important thing they told us?
In all focus groups, one theme kept emerging: All participants were constantly striving to balance their activities, so as to achieve the best possible outcomes for the girl or woman with Rett syndrome.
What were 5 things that helped do more uptime activities?
Make it fun! Choose activities you enjoy. Do activities with others.
Make it part of everyday life! Cooking, setting the table, and other ordinary activities around the house are all opportunities for uptime.
Ride the waves! There will be good days and bad days, depending on fatigue, pain, seizures, and other health issues. Motivation will vary from day to day too. Don’t be discouraged.
Use equipment if it helps! Having a wheelchair available can enable you to walk further because it’s easier to come back. Equipment eases the pressure both on the girls and on their carers.
Keep them engaged! Plan activities that will motivate the girls to continue in uptime without becoming bored or noticing their fatigue.
What were 5 things that made it harder to do more uptime activities?
Time constraints. It takes time to plan and do these uptime activities.
Limited staffing. You cannot increase uptime activities without people to support them.
Staff not knowing enough about Rett syndrome. “It’s important to read their signals to know when to stop . . . you need to know the signs and you need to see these things.”
Differences in perspectives. Parents, educational staff, and physical therapists all need to be pulling together in the same direction with agreed goals to make it work.
Carer fatigue. “Yes, because the girl might not be tired but then the parents are . . . I think we are very active all of us and try to involve her, but we are also worn down sometimes, right?”
Study 2: Buckley, N., Stahlhut, M., Elefant, C., Leonard, H., Lotan, M., & Downs, J. (2021). Parent and therapist perspectives on "uptime" activities and participation in Rett syndrome. Disabil Rehabil, 1-8. doi:10.1080/09638288.2021.1992026
What did our second research study aim to find out?
This study aimed to find out what practical strategies parents and therapists of girls and women with Rett syndrome use to increase their uptime.
Who were the participants in our second research study?
The participants in this study lived in 28 different countries. They included:
115 parents, and
49 physiotherapists, support workers, and other health professionals.
How did we collect the information from these participants?
We asked participants to complete a survey. The survey included questions about types of uptime activities; what made it easier or harder to do them; and what advice respondents would give to others.
What sorts of things impeded uptime?
Families were juggling a lot of different things, including health issues for the person with Rett syndrome, caregivers’ own health and capacity, and environmental factors. Sometimes, these got in the way of uptime activities, as shown in this diagram.
What strategies can be used to increase uptime?
The parents and therapists in this study suggested dozens of strategies for increasing uptime (included in our toolkit of uptime strategies). These are summarized in the diagram below.
Some of the strategies focussed on the person with Rett syndrome:
Fitness and Function: Strategies concentrated on incorporating fitness activities into everyday functional tasks.
Fun: Strategies concentrated on choosing activities that were meaningful, social, and self-determined in order to optimize motivation, engagement, and enjoyment.
Other strategies focussed on the social and physical environment:
Family and Friendships: Underlining the pivotal role of family, friends, teachers, support workers, and therapists, strategies encourage collaborative planning and consistency of support across different settings.
Physical environment: Strategies make the best use of all available environments, including home, school/day centre, community settings (e.g., shops) and natural settings (e.g., parks, reserves) and to use whatever equipment will facilitate activities in these places.
Study 3: Stahlhut, M., Downs, J., Wong, K., Bisgaard, A. M., & Nordmark, E. (2020). Feasibility and Effectiveness of an Individualized 12-Week "Uptime" Participation (U-PART) Intervention in Girls and Women With Rett Syndrome. Phys Ther, 100(1), 168-179. doi:10.1093/ptj/pzz138
What did our third research study aim to find out?
We ran a 12-week program for families of children and adults with Rett syndrome to increase their uptime. We wanted to find out:
Is this program feasible for families?
Does the program have benefits for children and adults with Rett syndrome?
Who were the participants in our third research study?
The 14 participants in this study were all female and all lived in Denmark. They were aged between 5 and 48 years. Nine could walk. Six lived with their parents, and 8 in a residential home.
What was the uptime program?
At the beginning of the program, 2 physical therapists and an educational psychological advisor assessed each girl or woman with Rett syndrome in their everyday environment. They looked for opportunities for uptime and challenges to increasing uptime. They assessed the physical environment, the organizational support structure, and the resources available to caregivers.
The program encouraged participation in activities that would be enjoyable for each person with Rett syndrome. Each caregiver set their own goals, giving as much choice to the person with Rett syndrome as possible. Activities were nominated in all settings: home, school/day centre, and community.
Families could rent equipment to help them meet their goals (e.g., switch-adapted toys, standers, walkers) during the 12-week program. If it was found useful, the Danish Center for Rett Syndrome supported the application process to retain the equipment after the study period.
Was the uptime program feasible?
Yes. At the end of the study, 30 people (families and staff who helped with these activities) were asked questions about the program. They rated their satisfaction with the program as 8/10, the appropriateness of the intervention as 9/10, and their intention to continue doing the activities as 9/10.
There were no negative effects for participants. Caregivers found it somewhat time-consuming to do the extra activities, but noted that they didn’t require many extra resources.
What were the benefits of the uptime program?
There were measured improvements in the following outcomes. These were statistically significant improvements, which means that they are likely to be due to real changes in the girls and women, and not just chance fluctuations over time. During the course of the 12-week uptime program:
There was a 4% drop in sedentary time (time spent sitting and lying).
Daily walking distance increased: Participants walked nearly 700 steps/day more.
Maximum walking speed improved: When asked to walk as fast they could for 2 minutes, participants walked nearly 20 metres further.
Caregivers rated the girls’ quality of life as higher after the program than before, particularly in regard to social interactions and leisure and the outdoors.
These results were very encouraging, because they showed that an individualized program could be run in everyday settings, and it was feasible and beneficial in important ways.
But we needed to find out more about the reasons that the program worked. Maybe these improvements happened only because we drew the attention of caregivers to uptime by talking them about it and assessing it.
We needed to compare participants in the uptime program with participants not doing any uptime. In other words, we needed a control group. The control group would include people who got the same questions and assessments, but didn’t get the uptime program. If participants in the uptime program improved more than the control group, then we could be confident that the uptime program caused the improvements. This was what we did in Study 4 (below).
Study 4: Downs, J., Blackmore, A.M., Wong, K., Buckley, N., Lotan, M., Elefant, C., Leonard, H. Stahlhut, M. (2022). Can telehealth increase physical activity in Rett syndrome in a COVID-19 environment? A multicentre randomized controlled trial. Oct 25. doi:10.1111/dmcn.15436. Online ahead of print.
What did our fourth research study aim to find out?
For this study we ran a 12-week uptime program (very similar to Study 3) with one group. A second group were a waiting-list control group. That meant that they had no program for the first 12 weeks. After that, they received the same program. We randomly assigned participants to the two groups to ensure that they were as similar as possible at the beginning of the study.
By comparing the two groups at the end of the first 12 weeks, we aimed to find out:
Did the program improve uptime, quality of life, sleep, and behaviour?
What did caregivers think about the programme?
Who were the participants in our fourth research study?
The study included 38 participants from Denmark and Australia (19 per group). All but one were female. They were aged between 6 and 41 years. All could walk, although 18 needed assistance to walk. Twenty-one had seizures and 21 had scoliosis.
What was the uptime program?
The uptime program was based on the program used in Study 3. The main difference was that it was delivered during the first year of the COVID-19 pandemic via telehealth. About half of the participants were affected by lockdowns during the program. This limited the settings where they could do their activities.
Each participant had one physiotherapist throughout the intervention. The physiotherapist communicated at least fortnightly with the main caregiver by phone or videocall, and could be contacted between these formal appointments by phone or email.
At the beginning of the program, the physiotherapist reviewed the gross motor skills, care routines, activities, and environment of the person with Rett syndrome. Then the physiotherapist worked with caregivers and service providers to set their own individualized goals to increase uptime.
Then the physiotherapist and caregivers planned activities that could be done in the participants’
homes, schools, and community environments. Every fortnight the goals and activities were discussed and adjusted as needed.
What were the differences between the 2 groups at the end of the first 12 weeks?
The group who had the program were slightly better than the group who did not have the program at the end of the 12 weeks. However, these changes were not statistically significant, which means that they might not be due to the uptime program but could be chance fluctuations over time. The differences between the groups after 12 weeks were:
The group who had the program were slightly less sedentary time than the control group.
The group who had the program walked more steps/day than the control group.
The group who had the program had slightly better quality of life than the control group.
The group who had the program had slightly fewer sleep disturbances and slightly less daytime sleepiness than the control group.
The group who had the program had slightly more mood disturbance and anxiety than the control group.
What did caregivers think about the uptime program?
Caregivers were extremely satisfied with the uptime program, rating it on average as 9/10. They said that they intended to continue to focus on uptime activities after the close of the program (average rating 10/10).
They cited benefits in regard to energy, walking distance, and greater involvement in activities:
“Fabulous! She repeatedly outperformed her goals. Her ‘get up and go’ increased and she appeared to be taking more interest in her surroundings.”
“Walking distance increased, more stable, better endurance.”
“I have new ideas for activities, I'm more aware that I can make some demands and that I can involve him more in the household activities.”
Caregivers also explained why the gains were small. These children and adults with Rett syndrome needed a lot of physical support to help them move around and motivation varied from time to time, and was affected by health issues.
“Her gross motor skills are low – it requires a lot of staff resources to keep her moving.”
“My daughter cannot initiate any active movements so if there is any increase in movement it has to be done by the staff or myself.”
“Her engagement has been fluctuating. Sometimes she enjoyed it and smiled a lot. At other times it seemed like a bitter obligation.”
“Maintaining changes when bad weather or health issues (e.g., constipation issue).”
What have we learned from this research?
Caregivers of children and adults with Rett syndrome find that the best way to increase uptime is to embed routines into their normal daily and weekly schedules, and to use whatever opportunities arise in all settings: home, school/day centre, and community.
There are lots of challenges: Families of children and adults with Rett syndrome need outside support and resources to help them maintain their uptime activities.
Physical therapists/physiotherapists can help families set goals and plan uptime routines. This may increase uptime and have other benefits, including improving quality of life. For many children and adults with Rett syndrome, the gains in uptime might be small. But for people who don’t normally move around very much, even tiny increases in activity are very worthwhile. -