Serial casting of the right foot of an adolescent girl with HSP resulted in a reduction in pain and spasticity, and improved flexibility, with the results persisting for more than a year.
PURPOSE:
The purpose of this report is to explore assessment and serial casting intervention for painful rigid flatfoot deformities with vertical talus in an adolescent girl with hereditary spastic paraplegia who was nonambulatory.
SUMMARY OF KEY POINTS:
The participant’s right foot underwent 2 phases of casting with correction first toward hindfoot inversion and then dorsiflexion. Because of a vertical talus, her left foot required an intermediate casting toward plantar flexion, inversion, and forefoot adduction prior to casting toward dorsiflexion.
STATEMENT OF CONCLUSIONS:
The patient improved despite the underlying progressive neuromuscular disorder. Pain ameliorated and she returned to supported standing and transfers. Spasticity decreased bilaterally and the flexibility of her foot deformities improved to allow orthotic fabrication in subtalar neutral. Results were maintained at 12 and 16 months.
RECOMMENDATIONS FOR CLINICAL PRACTICE:
Individualized multiphase serial casting requires further investigation with patients such as those with hereditary spastic paraplegia.
1Department of Children’s Services (Dr Sweet and Ms O’Neill), United Cerebral Palsy of Greater Cleveland, Cleveland, Ohio; University of St. Augustine for Health Sciences (Dr Sweet), St. Augustine, Florida; Department of Orthopedics (Dr Dobbs), Washington University School of Medicine and St. Louis Children’s Hospital, Saint Louis, Missouri.
Pooled averages of multiple studies yield a prevalence of HSP of 3.6 per 100,000 population with a 95% statistical chance of the real figure being between 2.0 and 5.3 per 100,000 people. This is 50% lower than the rate found in a 2009 Norwegian study of 2.5 million people that came up with 7.4 per 100,000.
The number of families without genetic diagnosis after systematic testing ranged from 45–67% for autosomal dominant HSP, and 71–82% for autosomal recessive HSP.
BACKGROUND:
Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP) are two groups of neurodegenerative disorders that usually present with progressive gait impairment, often leading to permanent disability. Advances in genetic research in the last decades have improved their diagnosis and brought new possibilities for prevention and future treatments. Still, there is great uncertainty regarding their global epidemiology.
SUMMARY:
Our objective was to assess the global distribution and prevalence of HCA and HSP by a systematic review and meta-analysis of prevalence studies. The MEDLINE, ISI Web of Science and Scopus databases were searched (1983-2013) for studies performed in well-defined populations and geographical regions. Two independent reviewers assessed the studies and extracted data and predefined methodological parameters.
Overall, 22 studies were included, reporting on 14,539 patients from 16 countries. Multisource population-based studies yielded higher prevalence values than studies based primarily on hospitals or genetic centres. The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. The autosomal recessive (AR) HCA (AR-HCA) prevalence range was 0.0-7.2/10(5), the average being 3.3/10(5) (1.8-4.9/10(5)). Friedreich ataxia was the most frequent AR-HCA, followed by ataxia with oculomotor apraxia or ataxia-telangiectasia.
The prevalence of autosomal dominant (AD) HSP (AD-HSP) ranged from 0.5 to 5.5/10(5) and that of AR-HSP from 0.0 to 5.3/10(5), with pooled averages of 1.8/10(5) (95% CI: 1.0-2.7/10(5)) and 1.8/10(5) (95% CI: 1.0-2.6/10(5)), respectively. The most common AD-HSP form in every population was spastic paraplegia, autosomal dominant, type 4 (SPG4), followed by SPG3A, while SPG11 was the most frequent AR-HSP, followed by SPG15. In population-based studies, the number of families without genetic diagnosis after systematic testing ranged from 33 to 92% in the AD-HCA group, and was 40-46% in the AR-HCA, 45-67% in the AD-HSP and 71-82% in the AR-HSP groups.
KEY MESSAGES:
Highly variable prevalence values for HCA and HSP are reported across the world. This variation reflects the different genetic make-up of the populations, but also methodological heterogeneity. Large areas of the world remain without prevalence studies. From the available data, we estimated that around 1:10,000 people are affected by HCA or HSP. In spite of advances in genetic research, most families in population-based series remain without identified genetic mutation after extensive testing.
ParaQuad NSW provides services to support people who have damage or trauma to the spinal cord resulting from injury or disease, and their families and carers to achieve their choices in life. Formed in 1961 as the Paraplegic and Quadriplegic Association of NSW, ParaQuad is a not-for-profit member-based association with offices in Sydney and Newcastle offering a range of services across NSW.
ParaQuad’s services include:
Accommodation Services for people with transitional and long term care needs. ParaQuad has two modern, accessible and purpose built accommodation facilities located in Sydney: Ferguson Lodge at Lidcombe offers short-term respite, transitional and long term accommodation; and Berala (near Auburn) provides short to medium term accommodation for people who require transitional, modified and accessible housing. Please contact the Accommodation Manager on (02) 9646 3711 or email accommodation@paraquad.org.au for further information.
Attendant Care Services which provides in-home support, personal care including domestic assistance and assistance to access the local community for people with a physical disability. To apply please call ParaQuad’s Attendant Care Manager on (02) 8741 5626, or email to attendantcare@paraquad.org.au.
Spinal Wellbeing Service which provides specialist spinal nursing, occupational therapy, social work and peer support services. Occupational therapy and social work services are available in the Greater Sydney Area. Occupational therapy, nursing and peer support services are available in the Hunter and surrounding areas. Peer support by telephone outside the Hunter region is available on a case-by-case basis. Please contact the Intake and Referral Line on (02) 8741 5674 or email health@paraquad.org.au. For peer support, please call David Coren, our Peer Support Officer at our Northern Branch Office on (02) 4969 6388 or email newcastle@paraquad.org.au.
Scholarship Program provides financial assistance for members to pursue educational and career training. Applications for the scholarship program for 2014 have closed. However, please email scholarships@paraquad.org.auto to be added to our mailing list. We can then notify you when applications open again.
Specialist Health Care Products such as continence, wound care, skin care and mobility aids through our products division BrightSky. Please call the Customer Care Line on 1300 88 66 01, email on info@brightsky.com.au or visit the website for further information.
Training, Education and Community Awareness Program offers training about spinal cord injury to personal carers and a number of other groups in the community including disability awareness to corporate organisations and schools.For more information on courses please contact us on (02) 8741 5662 or email training@paraquad.org.au.
Community Support Service based in the Hunter region works with you in providing support for a healthy lifestyle through: advocacy; social groups and activities; health information; workshops; our volunteer program; access to community resources links to health and other services; and involvement in local events. For more information, please call Melanie Lloyd, our Community Development Officer on (02) 4969 6388 or email newcastle@paraquad.org.au.
Becoming a member of ParaQuad can bring great value and support. You will receive information, news and services and become part of the spinal community, share stories, be inspired and above all know that help is close by. Find out more about becoming a member of ParaQuad NSW.
DISCOVERING HOW THE NATIONAL DISABILITY INSURANCE SCHEME (NDIS) AND PARAQUAD WORKS WITH YOU
In NSW, the first stage of the NDIS has been launched in the Hunter. Servicing the Hunter region for over 40 years, ParaQuad NSW is an experienced registered provider to support you with NDIS.
Who will be eligible for support in the first stage locations of an NDIS?
When fully implemented, the NDIS will provide support to people who have a permanent and significant disability, which affects their ability to participate in the community or employment and requires care and support.
If you are a person with a disability and you meet the access requirements you can become a participant in the scheme. As a participant, you will be able to access NDIS individualised planning processes to identify the reasonable and necessary supports you need to enable you to achieve your goals. To get an idea about whether you meet the access requirements, you can use the “My Access Checker” which is available at http://www.ndis.gov.au/my-access-checker. The tool is anonymous and will determine if you can access assistance from NDIS.
How can ParaQuad NSW assist me?
ParaQuad NSW is a registered NDIS provider in New South Wales that supports the following classes of support under the scheme:
• Accommodation/tenancy assistance
• Assistance with daily personal activities and household tasks
• Assistive equipment for leisure, recreation, general tasks and demands
• Assistive products for household tasks
• Assistive technology specialist assessment, set up and training
• Participation in community, social and civic activities
• Specialised assessment of skills, abilities and needs
• Managing life stages, transitions and supports
• Assistive products for personal care and safety
• Development of daily living and life skills
• Management of funding for support under a participants plan
• Physical wellbeing activities
• Training for independence in travel and transport
Footwear choice was found to influence ‘balance confidence’ to undertake daily tasks. Design recommendations for enhanced balance included a close fit with tight fastening, lightweight, substantial tread, and a firm, molded sole/insole. The hiking sandal was believed to be the most stable and safe shoe and was frequently worn as a walking aid to reduce fear of falling and boost confidence.
BACKGROUND:
Despite falls being a major concern for people living with somatosensory deficit, little is known about the perceived impact of footwear and footwear features on balance. Clinical relevance is increased given that therapeutic footwear is often provided to people with diabetes to reduce foot ulcer risk.
This qualitative study aims to explore the experiences and views of people with diabetes and neuropathy who have recently fallen to understand whether footwear type is perceived to affect balance or contribute to falling.
METHODS:
Sixteen individuals (13 men and three women aged 44-83 years) were purposively sampled from a larger population of potential participants. Audio-recorded, in-depth, semi-structured interviews were conducted in participant homes or at a place preferable to them. Once transcribed verbatim, the data were themed, charted, and interpreted using a framework approach.
RESULTS:
Although most participants did not believe that the footwear in which they fell contributed to their fall, most revealed how footwear choice influenced their balance confidence to undertake daily tasks. Most found their therapeutic footwear “difficult” to walk in, “heavy, or “slippery bottomed.”
Design recommendations for enhanced balance included a close fit with tight fastening, lightweight, substantial tread, and a firm, molded sole/insole. Complying with these recommendations, the hiking sandal was believed to be the most stable and safe shoe and was frequently worn as a walking aid to reduce fear of falling and boost confidence.
CONCLUSIONS:
People with diabetic neuropathy have disease-specific needs and concerns relating to how footwear affects balance. Engaging with patients to address those needs and concerns is likely to improve the feasibility and acceptability of therapeutic footwear to reduce foot ulcer risk and boost balance confidence.
SOURCE: J Am Podiatr Med Assoc. 2013 Nov-Dec;103(6):508-15. PMID: 24297987 [PubMed – in process]
Does footwear affect balance?: the views and experiences of people with diabetes and neuropathy who have fallen.
Paton JS1, Roberts A, Bruce GK, Marsden J.
1School of Health Professions, Plymouth University, Plymouth, Devon, England.
Three’s company: Phil Hurst and John Kitchen with one of the trikes
Bathurst resident John Kitchen’s love of bicycles has taken him from a general engineering business to building, designing and repairing bicycles in his local workshop, John Kitchen’s Fabrications. John has been running the business for five years, but started his first bicycle modification when he was just 15 years old. Since then, his bike modification skills have come a long way. “The first bike I worked on, it was a disaster,” he said.
John carries out extensive repairs and rebuilds and prides himself on restoring old, antique bicycles, some worth thousands of dollars. He works with all kinds of bikes, from mountain bikes to tandem bikes and even tricycles. He is even considering working on and building penny-farthings. John holds a Reynolds 753 master frame builder qualification, one of the most prestigious in his field. “You can’t get this qualification in Australia, it’s only available overseas,” he said.
About four months ago, Bathurst local and cycling enthusiast Phil Hurst visited John’s workshop looking for a custom-built tricycle that would offer him more support than his current trike, due to an ongoing handicap. “It’s the most complex tricycle design I have worked on so far,” John said.
Phil suffers from spasticity down his right side, and so balance is always an issue when it comes to bicycles.
The frame on his tricycle also needed a lowered bar under the seat, so as not to interfere with his legs. This meant building a more secure support frame at the back of the trike. Since using the new tricycle, Phil says his quality of life has greatly improved.
“I hardly even use my car now. And I have so much more freedom,” he said with a smile.
Introduced to cycling in 2010 by a friend, Phil was inspired so much by his love of the sport that he now wants to encourage other people with disabilities to jump on a bike or a trike and see if they, too, can gain something from the experience.
“Even if you think you can’t do it, just get out and give it a go,” he said.
Note: This study was done with people who had foot drop resulting from stroke. The relevance to foot drop in HSP is unknown.
An implantable system to stimulate the peroneal nerve during the swing phase of walking has resulted in increased walking speed in stroke patients with foot drop.
ActiGait® is a foot lifter stimulator implant that assumes the task of initiating the lifting action of the foot when walking.
Weakness of dorsiflexion (lifting up) of the foot is a frequent problem after a stroke, as it also often is with HSP. The foot is not raised sufficiently when walking and the toes can drag or catch.
ActiGait® can be implanted under the skin of the thigh in a day surgery procedure. After the wound has healed, the stimulator is individually adjusted to your needs. The function control unit is easy to handle.
Here is a video on ActiGait, including surgery to implant the device.
Abstract
PURPOSE:
Functional electrical stimulation represents an alternative to conventional and passive ankle foot orthosis (AFO) for the treatment of stroke-related drop foot. We evaluated the implantable 4-channel stimulator ActiGait, which selectively and directly stimulates the peroneal nerve. In addition, it bypasses the need for surface electrodes and cables.
METHODS:
Walking speed (10-meter gait test, [m/s]) and walking endurance (6-minute gait test [m/6min]) of 5 patients were tested prior to, as well as 6 and 12 weeks after, the implantation of the ActiGait implantable drop foot stimulator system. In addition, ankle joint angles were assessed during specific phases of the gait cycle, i.e. initiation angle (IA) at the first contact of the foot to the floor, initial plantar flexion (IPF), dorsiflexion (DF) and final plantar flexion (FPF) in [°] during stance phase. The ankle joint angles were measured at baseline and 12 weeks after ActiGait implantation.
RESULTS:
At the first follow-up, patients’ gait speed was found to have increased (0.55; 0.77 m/s) as had walking endurance (211; 260 m). Improvement in gait speed (0.55; 0.77 m/s) and endurance (214; 248 m) was still present after 12 weeks. In addition, gait analysis after 12 weeks revealed a nearly normal physiological initiation angle (113° vs 122°) and an increase in the initial plantar flexion (7° vs. 0°). The initiation angle (IA) represents a well-suited parameter for adequate pre-positioning of the foot at the beginning of the stance phase and is necessary to prevent stumbling and falling. Furthermore, IA is identical to the maximum achieved dorsiflexion during the swing phase of gait. Thus, analysis of the IA of subjects walking with the implantable drop foot stimulator systems ActiGait is particularly useful in showing that the implantable system restores the IA towards physiological ankle movements.
CONCLUSION:
The ActiGait system increased gait speed, walking endurance and the physiology of important ankle joint kinematics. This is most likely a result of ankle dorsiflexion by active peroneal stimulation during the swing phase of gait and optimized prepositioning (IA) of the foot at the beginning of stance phase. The ActiGait system represents a therapeutic option for the treatment of patients suffering drop foot due to a cerebrovascular insult.
This series by clinical psychologist Dr. Helga Hemberger* explores various aspects of getting in good ‘mental condition’ when living with a debilitating neurological condition, by providing ideas and tools for managing stress, improving mood and supporting a positive outlook.
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Self-guided e-therapies
There are now a number of readily available apps and web-based programs that have been developed to assist people in improving their mood and preventing depression.
One of the most widely used self-guided e-therapies in Australia is MoodGYM.
MoodGYM is promoted as “a free self-help program to teach cognitive behaviour therapy skills to people vulnerable to depression and anxiety.”
MoodGYM has been developed by clinical researchers at the Australian National University. Research studies have shown a reduction in symptoms of depression and anxiety following completion of the program, with gains maintained at 12 month follow up.
MoodGYM has been based on cognitive-behavioural therapy (CBT) and Interpersonal Therapy. These therapies can help you during times of stress, adversity, grief and loss. That is, you don’t need a mental health condition to benefit from a program like MoodGYM. Some proactive schools are even teaching children and teenagers basic CBT skills to help them along the path to adulthood.
MoodGYM teaches skills in:
Identifying early signs of depression and anxiety
Recognizing maladaptive thinking styles
Challenging negative thoughts
Constructing new, more adaptive ways of thinking
Improving health and reducing stress (sleep, relaxation, exercise, diet)
Increasing activities that are either pleasant or produce a sense of achievement (or both)
Constructing and implementing real-life experiments to test out the validity of negative thoughts, beliefs and predictions
Coping when relationships end.
How to
Getting started is simple. Just go to the MoodGym website moodgym.anu.edu.au, create a username and password, fill out a mood questionnaire and the program guides you through. The program is free. There are measures for assessing levels of depression or anxiety and charting progress. There is also a useful workbook in which you can record your responses to the program’s quizzes and exercises. You can complete MoodGYM at your own pace. There are 5 interactive modules which each take 30-40 minutes. You can log in and complete all or part of a module at any time and the program stores your previous responses.
This Way Up and e-couch are two other mood management programs available on the net.
Web programs offer skills and information to gain insight into your mood and help you cope with difficult times. They are intended to improve and prevent anxiety and depression. The programs are not intended as a treatment for severe depression. If you are feeling suicidal, call Emergency 000 or Lifeline 13 11 14 and tell the person answering your call that you are thinking about suicide. There are many people who are specially trained to help you get through these feelings.
In this study, four HSPers had lower back surgery to cut selected nerve roots involved in sending impaired signals to the legs that results in spasticity. Followed up for more than 2 years, the researchers found:
significant spasticity reduction
improved standing and walking stability
improved posture and longer walking distance
no significant problems as a result of the surgery.
This type of surgery is more commonly associated with cerebral palsy. The reasons that it is not generally thought of as suitable for HSP is that HSP involves weakness as well as spasticity, and it is ‘progressive’ (gets worse over time).
Abstract
Pure hereditary spastic paraparesis usually presents with progressive weakness and spasticity of the legs, which is similar to spastic cerebral palsy. In this study selective dorsal rhizotomy (SDR) was performed to improve the spasticity of pure hereditary spastic paraparesis and the long-term results were followed.
A series of four patients with pure hereditary spastic paraparesis diagnosed by a multidisciplinary team received SDR. The dorsal rootlets from the L2 to S1 levels were selectively resected under electrophysiological monitoring. The patients were followed up for more than 2years to evaluate the outcome of surgery.
There was a significant reduction in muscular spasm after SDR. Standing and walking stability were improved in all patients, which led to improvement in walking posture and longer walking distance without assistance. No urinary retention, cerebrospinal fluid leak, surgical infection or kyphosis occurred.
For severe pure hereditary spastic paraparesis, SDR can reduce muscle spasm and improve standing and walking stability. These results were stable throughout follow-up. SDR performed at the level of the conus medullaris through a laminectomy from T12 to L1 or L1 to L2 requires a shorter incision, laminectomy of fewer segments, and has a shorter operation time than the usual method (laminectomy from L2 to S1). Intraoperative electrophysiological monitoring is helpful to discriminate abnormal rootlets and protect sphincter function.
Long-term results of selective dorsal rhizotomy for hereditary spastic paraparesis.
Kai M, Yongjie L, Ping Z.
Beijing Institute of Functional Neurosurgery, Xuanwu Hospital, Capital University of Medical Science, No. 45 Changchun Street, Xicheng District, Beijing 100053, China.
HSPers in South West England reported their experience of support services, identifying neuro-physiotherapy, self-management information and advice, and emotional support services as the priority needs.
Abstract
Purpose: Hereditary Spastic Paraplegia (HSP) is an inherited nervous system disorder characterized by development of leg weakness, spasms and stiffness.
While generally acknowledged that health and social care services can minimise symptoms and improve quality of life, there is a lack of research exploring this from the perspective of people affected by HSP. This qualitative study explored the users and providers experience of using rural services.
Method: Focus groups and interviews were undertaken of people with HSP (n = 14), carers (n = 6) and professionals (n = 12), to describe their experience of service provision and to suggest improvements for care. These were taped, transcribed and analysed.
Results: Four themes emerged:
(1) Diagnosis, symptoms and finding support;
(2) Therapy, treatment and the delivery of care;
(3) Managing the disease together; and
(4) The way forward.
Conclusions: Rehabilitation and support for self-management is valued by those affected with HSP throughout the disease trajectory from diagnosis onwards. Key to this is the development of a partnership approach, which includes carers. Single point, well-informed gatekeepers may enhance the coordination and delivery of care in rural areas. These findings underline current guidance promoting a holistic approach for people with neurological conditions.
Implications for Rehabilitation: People with HSP see as a high priority the need for additional neuro-physiotherapy services and emotional support services. Single point, well-informed, gatekeepers are essential to coordinate care, especially with rare diseases. Health professionals need more education and training about the disease process and its consequences for people affected by HSP, including the carer burden. People with HSP require better self-management advice, information and support.
SOURCE:Disabil Rehabil. 2013 Aug 14. [Epub ahead of print] PMID: 23944176 [PubMed – as supplied by publisher]
Service delivery for people with hereditary spastic paraparesis living in the South West of England.
Grose J, Freeman J, Marsden J.
Faculty of Health, Education and Society, Peninsula Allied Health Centre, Plymouth University , Plymouth, Devon , UK.
“Ian, work out what you want to do, and do it”. These were the words from my Occupational Therapist many years ago which has been a part of my psyche ever since and that is how I see the Baclofen pump. I am not advocating it nor detracting from it. This is purely about me and my experiences with it.
So the way it works is this: I have a pump inside the front of my body with a tiny tube going around to my spine. The Baclofen travels through the tube and directly into the exact spot where my nerves require it the most. I go to a wonderful doctor every six months who fills the pump using a needle through my skin and into the pump. We then discuss and decide together whether to make adjustments to the dose and then a neurophysiologist holds a small device over the pump and makes the changes, which are very small. Prior to this I took one tablet a day and now use one ten thousandths’ of the amount. It takes 48 hours to move through the tube so I do not notice any changes until the next day.
The decision we need to make each time is a trade-off. The drug is a muscle relaxant so the more you have the easier it is to walk but the weaker and more wobbly you become. However the result is dramatic for me. Just to give you an idea, before this it would take me about 29 minutes to walk a kilometre on the treadmill. Afterwards, my PB (personal best) was 19 minutes 42 seconds: a 33% improvement. Of course the underlying condition continues to progress and after a while I need to increase it. I doubt if I will ever do that time again, but even recently when it was adjusted, my timing improved by three minutes.
It has improved my life and mobility, and of course I am still very slow, but my legs keep going. We have travelled overseas on several occasions without any airport problems: I even climbed the Acropolis!
The challenges are really to decide if you want to have this inside your body. It’s quite big, maybe 5cm by 3cm deep, but you can see that on the web, and yes it does show, which does little for one’s vanity.
Be prepared for the most excruciating headache you could imagine for a few days after the operation to install the pump. Once spinal fluid is lost, it needs lots of coffee, coke and rest to repair itself – just lie on the floor, pat the dog and put your life on hold. For me it was pretty bad, I had six and a half weeks and I was nearly about to give up when suddenly it stopped – the absence of pain is truly wonderful.
Finally my suggestion is don’t look at Youtube clips or other comments on the Net, especially discussion forums, unless they are on a credible HSP site, they will confuse you more and generally talk about the negatives.
