Making travel easier for people living with disability
Local and city councils are increasingly responding to the demand for information specifically to help people living with disability make plans and get around while travelling.
Maps and information include access, transport, facilities and amenities, tracks and paths (including colour-coding for difficulty). This will help people get there (public transport stops), show the accessibility of locations and buildings, the location of disabled toilets, lifts, ramps, change rooms, accommodation and so on.
Whether you walk or roll, the mapping is to highlight the degree of difficulty of paths taking into account people with walking sticks/frames, wheelchairs, people pushing prams, and senior citizens generally. Here is the Sunshine Coast Accessible Travel page and map as an example.
Jason
Long-standing HSP community member Jason from NSW, a surveyor, has been working in the field for the company that is developing such resources for local authorities. With his surveying background, his focus on fitness, and having HSP, all came together to make him a natural fit for the job. The company develops mobile-based navigation and fitness applications, recognising that the physical environment that people with disability are in needs to be conducive to movement and travel.
Jason out mapping in the field
The initial project was mapping Sydney for New Year’s Eve celebrations for people to be able to get to various venues. Jason has since undertaken mapping of walking tracks, footpaths and other infrastructure in Melbourne, Sydney (again), Wollongong, Central Coast NSW, Sunshine Coast, Townsville and is soon heading off to Kalgoorlie. The technology used is akin to GPS tracking and considers decline/incline of a path, speed undertaken and colour coding of degree of difficulty.
So, you might see Jason out an about in his wheelchair, either manually pushing or motorised, wearing his hi vis shirt for safety and, in some cases, a crash helmet, as some narrow paths can be difficult to negotiate. He has covered thousands of kilometres to date and regularly shares his HSP story.
Research studies show that many people with HSP develop mild cognitive impairment as the condition progresses over the years.
This can show up in forgetfulness, increased difficulty with planning and organising things and sometimes in negative emotions or lack of emotions that can impact relationships – and all these things happening at an earlier age than would be expected from age-related degeneration.
But it is possible to train both body and mind to improve cognitive function where there is mild impairment.
Do you want to learn how you can train your body and your mind to improve your cognition? BrainFit could be for you.
BrainFit is a program that implements principles of exercise coupled with cognitive tasks, to challenge your body and your mind. In this online webinar, you will learn how working with both an Occupational Therapist and an Exercise Physiologist can help to create effective exercises for your brain and body. The BrainFit program is targeted at people with mild cognitive impairments.
This online webinar will be hosted by ARC Exercise Physiologist, Courtney Raman. Courtney has worked with a large range of neurological conditions, both in ARC and beyond. Courtney loves to work on new ways to provide the best evidence-based therapy for her clients, as well as keeping exercise fun and enjoyable.
Courtney Raman
Join us from the comfort of your own home on the 20th of June at 10 am to learn about ARC’s BrainFit Program with Exercise Physiologist Courtney Raman. www.archealth.com.au
FREE ONLINE Webinar Click the button below to join
Exercise physiologist Lisa Meng of Advance Rehab Centre in Sydney contributes again this quarter with two more exercises to add to your routine.
The new exercises are aimed at increasing trunk control and flexibility.
Lisa writes:
Focus of this set of exercises is on control and flexibility of the trunk. This research study shows that people with HSP show increased trunk movements during walking to compensate for lower limb weakness which results in reduced foot clearance, step length and poorer ankle movements for maintaining balance.
Trunk control and trunk flexibility exercises are beneficial for more stability during walking and improving balance.
Here are the exercises:
Trunk rotation in four-point kneeling
Trunk mobility: Improves range of motion in the trunk and reduces stiffness in this region. Improves ability to reach, balance, turn the body.
1. Start by resting on your hands and knees with your hands below your shoulders and your knees below your hips.2. Place one hand on the back of your head with your elbow pointing out to the side.3. Keeping the rest of your body still, lift your elbow up towards the ceiling, rotating your chest as you do so4. Lower your elbow down to complete the exercise. Keep the rest of your body still throughout the exercise.
Bird dog
Core control: improves sitting/standing balance and tolerance which can reduce the overall energy cost of sitting, standing and walking.
1. Start by resting on your hands and knees with your hands below your shoulders and your knees below your hips.2. Maintaining a straight line from your head to your hips, raise your arm up and extend your opposite leg back3. Lower them to the ground to complete the movement. Maintain a straight line from your head to your hips throughout the exercise.
4. Repeat with the other arm and opposite leg raised and extended.
Do the number of repetitions that you can manage without pain or overexertion. Start with just one set of both exercises. Increase the number of repetitions in a set and the number of sets in a session in line with your capacity.
Camps in VIC for kids & teens, adults and families
People Outdoors are experts in providing outdoor recreation for people of all ages living with disability. They were established in 1989 as a branch of the Australian Camps Association and currently run programs at various locations in Victoria.
People Outdoors camps are outcomes focused and are all about fun, personal development, social connection and enjoying the great outdoors. There are camps for kids and teens, for adults, and for families/all ages.
Camp programs include overnight through to four-day residential camps and provide people living with disability the opportunity to experience the social and developmental benefits of adventure outdoors. In some cases, participation is assisted by their charity, the People Outdoors Fund.
Programs are staffed by trained and passionate professionals and volunteers. People Outdoors camps are hallmarked by a high level of communication with parents/guardians and campers, including a personal pre-camp intake meeting and post program evaluation. The Australian Camps Association is a registered NDIS service provider certified with the Department of Health and Human Services (DHHS) and accredited with the Quality Tourism Framework. Programs are run only at accredited Australian Camps Association member residential camps.
SOURCE: Australian Camps Association – People Outdoors – Adventure for All
Nine students from Western Michigan University’s Residential Architectural Design program took on the assignment of designing a home for HSP community member Kate from Victoria.
After circulating information about the opportunity to members of the HSP community in early February, Kate’s application was chosen, leading to 9 independently developed designs for a home based on Kate’s needs and wants.
Each student produced documentation covering:
pre-design data gathering
concept design
schematic design
construction and material documentation.
Climatic studies, site analysis, passive design strategies, building code and standards, accessibility, working from home, adaptations for HSP symptoms, movement patterns in the home, sustainability, materials/mood board with colours and textures are all factored in to the final designs produced.
The students made final presentations in late April when Kate received all the designs and documentation for her consideration.
Poster presentations
Foundation President Frank McKeown said “this was a fortunate and wonderful opportunity for all involved. Kate received different designs and options from which to pick and choose for the home she is going to build. Hopefully other people living with disability and other designers can use this project to guide similar projects in future, plus the students got to work on a project outside their own country and get the satisfaction of doing something worthwhile for someone else, so it was a win all round.
Full credit, congratulations and sincere thanks to the Richmond Institute for Design an Innovation at Western Michigan University, particularly to program leader Kim Buchholz who is the drive and vision behind this highly commendable initiative”.
Dr. Tom Clouse was a general surgeon in the US who lost his career to a neurodegenerative disorder called spinocerebellar ataxia (SCA) that is like (and difficult to distinguish from) HSP in many respects. As with everyone with this type of disorder, his mobility was steadily declining. The condition affected his speech as well.
Using his knowledge as a doctor and working by himself through trial and error, he found ways to make significant positive changes to his movement ability and his life.
Tom Clouse MD
Tom has for many years run workshops and taught people what he has learned throughout the US and internationally. He has a website, a YouTube channel and a book. Tom says “I just completed uploading all the instructional videos (42) that I currently have to my new YouTube channel. I made these videos specifically for people with a neurodegenerative disorder/movement impairment, which is what I have as well. The access to them is completely free”.
There is a wealth of information in these videos, and all of it is on a practical and user-friendly level.
So check out the videos, click the ‘Like’ and ‘Subscribe’ buttons to help this new content achieve sufficient YouTube ranking for others to find it.
Linking Wellbeing, Mobility, Pain, Menstrual Health
2022 Survey Results
Adam Lawrence
513 respondents completed an on-line survey between September and December 2022, predominantly from the USA, the UK, Brasil, and France. 234 of these had also this completed at least one other survey.
Use of mobility aids:
14% use no mobility aids
19% use them some of the time.
Others use aids all or most of the time, with:
36% using sticks
12% using frames and
19% using wheelchairs.
Disabled?: 80% consider themselves disabled, with 20% not considering themselves disabled. Mobility is often the main factor determining if someone feels disabled.
Diagnostic journey continuing: Some people who have completed previous surveys have had a genetic test for HSP since their first survey, indicating that their diagnosis journey continues over time.
Average wellbeing: Respondents completed the Warwick-Edinburgh Mental Well-being scale (WEMWBS) to assess wellbeing, with an average score of 45.6, in the ‘average wellbeing’ range.
25% experience depression: Respondents completed the PHQ2 depression screening tool. Around a quarter score 3 or more points, indicating they screen for depression.
Mobility aids
Walking sticks/canes were identified most often as people’s favourite mobility aids amongst a wide range. Those who have negative feelings about using mobility aids tend to have a lower wellbeing. People appear to spend the longest time using either walking sticks or wheelchairs. Mobility aid use can vary significantly in the earlier stages of HSP as people learn about their altering gait. Benefits from aids include increasing independence, reducing symptoms and enjoying doing more. Many have uncertainty about the types of mobility aid they will need to use in the future.
Pain
Around three quarters of people indicate they get pain from their HSP. Respondents completed the Short-form McGill Pain Questionnaire 2 (SF-MPQ-2). The average score for people with pain from HSP is 3, higher for those using mobility aids. The most common description of pain from HSP is ‘tiring or exhausting’, followed by ‘cramping pain’ and ‘aching pain’. Most people describe their pain intensity from HSP as ‘discomforting’, and those that describe this as ‘distressing’, ‘horrible’ or ‘excruciating’ have a lower wellbeing. Overall, most people note their pain from HSP is in their legs, feet, back and hips. Looking at changes in pain since 2017, most people completing these questions in both years have no change or a small change in pain, and there may be evidence suggesting some get accustomed to their pain.
Menstrual cycle effects
People were asked how the common HSP symptoms of spasticity, pain, fatigue and mental health varied during their menstrual cycle. Over half of people felt that their mental health was worse during their menstrual cycle, and around a third thought that their spasticity, pain and/or fatigue were worse during their menstrual cycle. Those with worse spasticity, fatigue and/or mental health tend to have a lower wellbeing than others. A few people also find that their bladder and/or bowel symptoms are more affected during their cycle. For a few with earlier onset HSP there are some reasons why people avoid using tampons.
Giving advice
Stay positive and keep moving: People identified one piece of advice for others with HSP. The most common answers were about staying positive and keeping moving.
Diminishing functionality
Many people identified things now hard or impossible to do, including types of movement and activities with other people. There are many with HSP who find making or keeping friends hard, which leads to a lower wellbeing. Similarly, people can have lower wellbeing when they find it hard to tell their friends or work colleagues about their HSP.
Research and medical care
When thinking about research priorities for HSP many answers are around treatments/cures for aspects of HSP. It is often felt that healthcare professionals do not have enough HSP information to confidently deal with people seeking help on how their HSP can be treated or how their symptoms are likely to progress.
Funding care and adaptations
When looking at funding, there are similar numbers using mobility aids and medication, and many use both. More than half have needed adaptations and improvements around their home, and around a quarter of people need adapted cars and/or carers at their homes. The four most common methods of funding for these things are Government benefits, Savings, Insurance and Health Services.
Improving wellbeing
Action can be taken to improve wellbeing, including reviewing medications, mobility aids and exercise routines to manage HSP appropriately over time. Other areas associating strongly with wellbeing include:
Reducing depression
Pain management
Seeking adjustments at work or alternative jobs
Friendships, conversations and views on the opinions of others.
Physiotherapy, physical activity & keeping warm the key
Regular physiotherapy, 3 or more physical activity sessions per week and keeping warm were identified by respondents as being the most helpful in improving spasticity.
Conversely, psychological stress and being cold made spasticity worse for most of the 325 participants in this study.
People’s expertise is of particular importance given that only functional treatments exist in HSP.
Alexandra Durr
Background: Phenotypic variability is a consistent finding in neurogenetics and therefore applicable to hereditary spastic paraparesis. Identifying reasons for this variability is a challenge. We hypothesized that, in addition to genetic modifiers, extrinsic factors influence variability.
Objectives: Our aim was to describe the clinical variability in hereditary spastic paraparesis from the person’s perspective. Our goals were to identify individual and environmental factors that influence muscle tone disorders and derive interventions which could improve spasticity.
Methods: This study was based on self-assessments with questions on nominal and ordinal scales completed by participants with hereditary spastic paraparesis. A questionnaire was completed either in-person in the clinic or electronically via lay organization websites.
Results: Among the 325 responders, most had SPG4/SPAST (n = 182, 56%) with a mean age at onset of 31.7 (SD 16.7) years and a mean disease duration of 23 (SD 13.6) years at the time of participation. The 2 factors identified as improving spasticity for > 50% of the responders were physiotherapy (193/325, 59%), and superficial warming (172/308, 55%). Half of the responders (n = 164, 50%) performed physical activity at least once a month and up to once a week. Participants who reported physiotherapy as effective were significantly more satisfied with ≥ 3 sessions per week. Psychologically stressful situations (246/319, 77%) and cold temperatures (202/319, 63%) exacerbated spasticity for most participants.
Conclusion: Participants perceived that physiotherapy reduced spasticity and that the impact of physiotherapy on spasticity was much greater than other medical interventions. Therefore, people should be encouraged to practice physical activity at least 3 times per week. This study reported participants’ opinions: in hereditary spastic paraparesis only functional treatments exist, therefore the participant’s expertise is of particular importance.
1. Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (APHP), University Hospital Pitié-Salpêtrière, Paris, France; Sorbonne Université, Pediatric Physical Medicine and Rehabilitation Department, Hospital Armand Trousseau, Paris, France. Electronic address: pauline.lallemant@icm-institute.org.
2. Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (APHP), University Hospital Pitié-Salpêtrière, Paris, France.
3. Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (APHP), University Hospital Pitié-Salpêtrière, Paris, France; Sorbonne Université, Genetic Department, University Hospital Pitié-Salpêtrière, Paris, France.
4. Sorbonne Université, Genetic Department, University Hospital Pitié-Salpêtrière, Paris, France.
5. Centre SLA, University Hospital Bretonneau, Tours, France; Inserm Unit UMR U1253, iBrain, France.
6. Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (APHP), University Hospital Pitié-Salpêtrière, Paris, France; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
7. Association ASL-HSP France, France.
8. Sorbonne Université, Biostatistics and Medical Informatics Unit and Clinical Research Unit, University Hospital Pitié-Salpêtrière, UMR S1136, Institut Pierre Louis d’Epidémiologie et de Santé Publique, Paris, France.
One hour sessions of leg muscle strengthening and treadmill training 3 – 4 times a week for 6 weeks significantly improved mobility on multiple dimensions for a 10 year old boy with complicated HSP.
Improvements were maintained at 3, 6 and 12 month follow-ups.
Background: and Purpose: Hereditary spastic paraplegias (HSP) are a group of clinically diverse genetic disorders that share the neurologic symptom of difficulty in walking due to progressive serious muscle weakness and spasticity in the legs. This study describes a physiotherapy program for improving the functional ability of a child diagnosed with complicated HSP and reports the treatment results.
Methods: A 10-year-old boy with complicated HSP received a physiotherapy intervention that included strengthening of the leg muscles and treadmill training for 1 h per session, three to four times a week for 6 weeks. Outcome measures included sit-to-stand, 10-m walk, 1-min walk tests, and gross motor function measures (dimensions D and E).
Results: After the intervention, the sit-to-stand, 1-min walk, and 10-m walk test scores improved by 6.75 times, 2.57 m, and 0.05 m/s, respectively. Furthermore, the gross motor function measure dimensions D and E scores improved by 8% (46%-54%) and 5% (22%-27%), respectively. The gains in each parameter were maintained at the 3- and 6-month and 1-year follow-ups.
Conclusion: These results suggest that structured physiotherapy programs can benefit the functional rehabilitation of children with complicated HSP.
Physiotherapy strategies for functional improvement in a child with complicated hereditary spastic paraplegia: 1-year follow-up of a case report using a changing criterion design
A rare genetic urea cycle disorder, Arginase 1 Deficiency, presents with progressive lower limb spasticity, much like HSP, making accurate diagnosis difficult and a sometimes lengthy process.
Disease progression can occur before a correct diagnosis is made, representing a significant negative impact of delayed treatment.
It is recommended that the ARG1-D gene be added to HSP gene panels and considered in HSP differential diagnosis.
Background: Arginase 1 Deficiency (ARG1-D) is a rare autosomal recessive urea cycle disorder (UCD) characterized by pathologic elevation of plasma arginine and debilitating manifestations. Based on clinical commonalities and low disease awareness, ARG1-D can be diagnosed as hereditary spastic paraplegia (HSP), leading to treatment delays.
Cases: A Hispanic woman with unremarkable medical history experienced progressive lower-limb spasticity in her 20s and received a diagnosis of HSP. She developed significant gait abnormalities and is unable to walk without assistance. More recently, two Hispanic brothers with childhood-onset manifestations including lower-limb spasticity, developmental delays, and seizures presented with suspected HSP. All three patients were ultimately diagnosed with ARG1-D based on plasma arginine several-fold above normal levels and loss-of-function ARG1 variants. Disease progression occurred before ARG1-D was correctly diagnosed.
Literature review: Retrospective analyses demonstrate that diagnostic delays in ARG1-D are common and can be lengthy. Because of clinical similarities between ARG1-D and HSP, such as insidious onset and progressive spasticity, accurate diagnosis of ARG1-D is challenging. Timely ARG1-D diagnosis is critical because this UCD is a treatable genetic cause of progressive lower-limb spasticity.
Conclusions: Arginase 1 Deficiency should be considered in HSP differential diagnosis until biochemically/genetically excluded, and should be routinely included in HSP gene panels.
