Adam Hewber has simple goals: to live as independently as possible, undertake meaningful work and walk on the beach with his dad again.
He has already achieved the first two and is not far away from the third, thanks to a tough work ethic and a program of innovative neurological physiotherapy.
The 43-year-old from the southern Perth suburb of Palmyra was born with a rare neurological condition called hereditary spastic paraplegia, which affects how his brain communicates with his muscles, particularly in his legs.
If he does not keep exercising, he rapidly loses his physical skills like standing or being able to move himself from his wheelchair to a chair.
He has had two devastating incidents in which he lost his ability to walk – the first after his father and primary carer, Joe Hewber, had a heart attack in 2010 and the most recent last year after a serious illness.
Adam and physio Teoh
But after intensive personal training and a neurological physiotherapy regime at disability services organisation Rocky Bay this year, he can now walk up to 80 metres at a time.
The uphill battle of learning to walk again
Mr Hewber has been using electrical stimulation therapy, where electrodes are placed on his legs and buttocks to stimulate the weight-bearing muscles required for walking, and blood-flow restriction training, which he used to improve his muscle strength.
His physiotherapist, Zhao Teoh, said his progress was an extraordinary achievement, especially considering Mr Hewber was at an age when most people started to lose muscle mass. “The fact that Adam lost his mobility, where he couldn’t stand at the beginning of the year and that he is now able to walk again is really quite remarkable.”
Mr Hewber was also impressed with the results of his hard work. “As you get older, it gets harder to bounce back and I surprised myself, as well as the therapists, because I was just able to do stuff I wasn’t able to do the week before,” he said.
A teenager in a family with HSP has been empowered through education and choice in deciding whether or not to know from a gene test if he also has the family form of HSP.
Article
Dane assisting his mother Tammy
Dane Widseth, 18, was 12 when the “H” in his mother’s diagnosis became one of the most important factors in his life. HSP: Hereditary Spastic Paraplegia.
Dane decided, at that age, with the support of his parents, Tammy and Brian, and counselors, to elect to “not know” the results of DNA testing that had been initiated by his sister Taytum.
The results that would let him know, for certain, whether or not he carried the gene that would determine his future, would be kept locked and sealed at a hospital, until such a time that he felt “ready to accept the news, for good or for bad” Dane said.
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Dane’s mother, Tammy, first realized at the age of 29 that she had the disease that crippled both her father and brother when she first felt what she describes as “myoclonic jerks” in her legs, which persist to this day.
By the time she was in her mid-40s, the disease had progressed to the point where she was reliant on a wheelchair. Now, at age 50, she is determined to have a “positive mindset” every day in dealing with the exhausting muscle and nerve pains affecting her lower extremities. “People with any chronic illness need to be spot-on with your physical and mental health if you want any kind of quality of life” Tammy said.
By age 16, Dane says he “felt ready” to know the results of the DNA testing, with the help of counselors and family members “who helped build my confidence up”. When he found that he tested positive for the disease, he knew that did not determine “who I am or what I’m capable of”.
Using skills and social interaction are key to well-being
Summary
Regardless of their autonomy level, people with HSP should be supported in finding more challenging opportunities for action in daily life in order to have more engaging and optimal experiences.
The exercise of motor functions and the cultivation of vicarious ones should be promoted through physiotherapy programs and physical activity.
Job placement should be favoured, as productive activities can foster engaging experiences, as well as represent opportunities for personal growth and social inclusion.
Social interactions should be facilitated through engagement in family and community activities.
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This study of 35 people provides a better understanding of the daily experience of people with HSP. The knowledge gained from the results of the study can help identify unmet needs and resources and aid the design of personal strategies and plans to enhance well-being in daily life. The authors recommend a larger study to lend confidence to the results obtained and conclusions drawn.
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Tailoring rehabilitation programs
The importance of tailoring rehabilitation programs based on individuals’ perceived challenges and abilities is highlighted. Tailored programs can foster active engagement in tasks that represent opportunities for both skill improvement and socialisation. This promotes complex and positive experiences such as ‘flow’ and can lead to high performance, intrinsic rewards and the long‐term development of competencies and autonomy.
The interaction between perceived challenges and personal skills is a key determinant of the quality of experience of daily life. Surprisingly, the level of an individual’s autonomy had only a modest impact on the quality of experience of daily activities. The level of complexity and structure of daily activities are good predictors of the quality of experience of those activities.
Daily life mainly low challenge
The reality however is that the daily life of study participants mainly includes unstructured, passive and low‐challenge tasks, and that presents risks for both their physical and mental health.
The most frequently reported activities were leisure and personal care. Leisure predominantly included passive and sedentary activities, such as watching TV and playing video games. Personal care activities mostly comprised daily hygiene, eating and resting.
The value of work
During productive tasks, such as work, participants perceived average challenge and skill levels, they were more active than average, but less happy and less willing to do the task. Productive tasks support activation and focused attention, but not emotional and motivational involvement.
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Work represents an important opportunity for cognitive and behavioral resource mobilisation, and for ‘flow’ experiences.
Moreover, it promotes socialisation and experience in the daily environment, and on participants’ perception of daily activities as opportunities for positive social engagement and optimal experiences. Results showed that the main predictor of participants’ experience were the perceived relevance and complexity of the ongoing activity, whereas the autonomy level played only a marginal role.
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Sports, physical exercise, arts and crafts
Structured and challenging activities such as sports, physical exercise, arts and crafts allow people with disabilities to experience ‘flow’, and at the same time to preserve functional autonomy, build new abilities or develop residual ones, and cultivate relationships.
Relationships play a vital role in fostering perceived meaning in life and in supporting adaptive coping strategies that can enhance well-being.
Challenge should fit level of autonomy
High autonomy participants more effectively express and mobilise competencies, especially in complex and refined tasks.
Among medium autonomy participants, there was a significant increase in challenges to skills during social interactions, likely related to the need for other people’s help to perform daily tasks while simultaneously being sufficiently independent to actively search for social interactions to strengthen existing relationships as well as building new ones.
Finally, among low autonomy participants, perceived challenges hit the highest level in productive activities, often performed in a day‐care centre, suggesting a dual role of these activities as opportunities for active engagement and social participation outside domestic settings.
Abstract
In the health domain, well-being is primarily assessed as autonomy and mental distress, whereas the quality of daily experience is rarely investigated. In this study, the relationship between autonomy levels and daily experience was explored.
Thirty-five Italian adults with Hereditary Spastic Paraplegia provided for one week, real-time descriptions of daily activities and associated experiences through the Experience Sampling Method procedure. Participants were grouped based on autonomy levels assessed through the Barthel Index. The relationships between activity typologies, the experiential dimensions, perceived challenges and skills, and autonomy level were analysed.
Participants’ predominant activities were personal care, associated with global disengagement, and leisure, associated with high control and desirability, but low perceived relevance. During social interactions participants reported engagement and emotional well-being, and during productive activities high activation but negative affect.
Multi-level analysis highlighted that this association between activity type and experiential patterns recurred across autonomy levels. In addition, perceived challenges in the activity were lower than perceived personal skills across activities and autonomy levels.
Findings suggest that persons with motor disabilities, regardless of their autonomy level, would benefit from more challenging opportunities for action in daily life, in order to attain well-being through active skill mobilisation.
Ross Minton, a ’30 something’ from the UK, has an undiagnosed rare muscle disability that affects his mobility. He has his own blog https://rossminton.wordpress.com/ a YouTube channel and Twitter feed and is interested in what is possible. He has almost 1,000 subscribers.
Ross Minton’s video – Grow Your Own Life
Check out his video ‘Grow Your Own Life’ or any of the other bunch of his videos on outdoor activities possible with disability and the benefits to be gained.
Another video, this time from North America, is all about wheelchair gardening, or more accurately, wheelchair farming!
This is a serious operation with a custom-designed wheelchair that you can make yourself. There are a stack of videos in the series by the same maker that are worth a look as well.
A sizeable study of 54 HSPers, including 36 with SPG4, using five different tests for cognitive assessment, has found that cognitive abnormalities occur frequently in both pure and complicated forms of HSP.
People with SPG4 had worse performance on four of the five tests when compared to the control group (no HSP). The cognitive changes identified were not compatible with dementia and included performing poorly on memory, attention and executive functions.
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People with SPG5 similarly scored lower on memory and executive functions and those with SPG7 performed poorly on memory tasks.
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All with SPG11 had markedly altered cognitive functions across all tests.
Background: Little is known about the cognitive profile of Hereditary Spastic Paraplegias (HSP), where most scientific attention has been given to motor features related to corticospinal tract degeneration.
Objectives: We aimed to perform a broad characterization of the cognitive functions of patients with pure and complicated HSP as well as to determine the frequency of abnormal cognitive performances in the studied subtypes.
Methods: A two-center cross-sectional case-control study was performed. All individuals underwent cognitive assessment through screening tests (Mini Mental State Examination-MEEM and Montreal Cognitive Assessment-MOCA) and tests to assess specific cognitive functions (Verbal fluency with phonological restriction-FAS; Verbal categorical fluency-FAS-cat and Rey’s Verbal Auditory Learning Test -RAVLT).
Results: Fifty four patients with genetically confirmed HSP diagnosis, 36 with spastic paraplegia type 4 (SPG4), 5 SPG11, 4 SPG5, 4 cerebrotendinous xanthomatosis (CTX), 3 SPG7 and 2 SPG3A, and 10 healthy, unrelated control subjects, with similar age, sex, and education participated in the study. SPG4 patients had worse performances in MOCA, FAS, FAS-cat, and RAVLT when compared to controls.
Most SPG4 patients presented cognitive changes not compatible with dementia, performing poorly in memory, attention and executive functions. SPG5 patients scored lower in executive functions and memory, and SPG7 patients performed poorly on memory tasks.
All evaluated cognitive functions were markedly altered in CTX and SPG11 patients.
Conclusions: Cognitive abnormalities are frequent in HSP, being more severe in complicated forms. However, cognitive impairments of pure HSPs might impact patients’ lives, decreasing families’ socioeconomic status and contributing to the overall disease burden.
SOURCE: Front Neurol. 2019 May 24;10:508.doi: 10.3389/fneur.2019.00508. eCollection 2019. PMID: 31231294
Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?
A program of two 20 minute sessions per week of simple, home-based exercises and movements was found to be sufficient to maintain fitness, flexibility and strength and avoid any decline in the ability to perform activities of daily living.
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Purpose
Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by progressive spasticity and weakness of the lower limbs. To date, the appropriate frequency and intensity of physical therapy for patients with HSP are not well-known.
We created an original rehabilitation program for a patient with a complicated form of HSP, wherein the program required low-frequency involvement to adapt to the long-term insurance system in Japan. We wanted to find out whether this program could maintain the physical functions and activities of daily living (ADL) of the patient.
Participant and Methods
A 41-year-old male diagnosed with a complicated form of HSP with decreased visual acuity and ataxia of the trunk and upper limb underwent a specific rehabilitation program that included a squatting exercise, a kneeling position exercise, and a motion exercise of taking a bath. This intervention program lasted for 20 minutes per session, with a frequency of two days per week. The patient was in the program for 12 weeks.
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Results
All outcome measures, including muscle strength (grip force and quadriceps) and Barthel index, remained unchanged at the end of the intervention program.
Conclusion
The original intervention program used in this study, which had a low frequency of exercise, was effective in preventing further regression of the lower limb function of the patient with a complicated form of HSP, and in preventing a decrease in the ability of the patient to perform ADL.
Botox treatment to reduce spasm in the hip adductor muscle group followed by stretching resulted in increased walking speed and a wider base width that increased stability. The ability to quickly step sideways to regain balance was also improved.
Spasticity in the hip adductor muscles commonly occurs with HSP. The hip adductor muscles are a group of muscles in the groin and inner thigh area. With spasticity, they pull the leg more towards, or even across, the centre line when walking. This results in a narrow base of support, almost like walking a tightrope, thus increasing instability and the challenge to balance.
Abstract
Patients with pure hereditary spastic paraplegia often have hip adductor spasticity, causing reduced base width and a narrow base of support. In addition, they experience difficulties stepping sideways to recover from sideward balance perturbations. A narrow base of support and the presumed side-stepping difficulties probably increase their risk of falling.
Botulinum toxin type A injections are commonly used to reduce spasticity in patients with hereditary spastic paraplegia, but no studies have systematically investigated the effects of botulinum toxin type A in (with subsequent stretching of) the hip adductors on gait and balance.
The results of this study indicate that, after botulinum toxin type A administration, there is an increase in comfortable gait speed and base width. Furthermore, patients show improved reactive stepping responses when the perturbation direction is known.
It is concluded that botulinum toxin type A treatment and subsequent stretching of the hip adductors may improve gait and reactive lateral stepping in patients with pure hereditary spastic paraplegia.
SOURCE: Journal of Rehabilitation Medicine DOI: 10.2340/16501977-2556
Functional effects of botulinum toxin type A in the hip adductors and subsequent stretching in patients with hereditary spastic paraplegia
Bas J.H. van Lith, Jasper den Boer, Bart P.C. van de Warrenburg, Vivian Weerdesteyn, Alexander C. Geurts
Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, 6541GX Nijmegen, The Netherlands.
There is increasing research evidence that impaired social cognitive function may be common in HSP and progresses over time along with physical symptoms. Social cognition refers to awareness of others’ emotions and communicating and responding appropriately to those emotions.
Australian researchers have now compiled and detailed a battery of tests to assess the various components of social cognitive function. They emphasise the importance of thorough assessment in guiding the choice of available treatments.
Abstract
Social cognition broadly refers to the processing of social information in the brain that underlies abilities such as the detection of others’ emotions and responding appropriately to these emotions. Social cognitive skills are critical for successful communication and, consequently, mental health and wellbeing.
Disturbances of social cognition are early and salient features of many neuropsychiatric, neurodevelopmental and neurodegenerative disorders, and often occur after acute brain injury. Its assessment in the clinic is, therefore, of paramount importance. Indeed, the most recent edition of the American Psychiatric Association’s Diagnostic and Statistical Manual for Mental Disorders (DSM-5) introduced social cognition as one of six core components of neurocognitive function, alongside memory and executive control.
Failures of social cognition most often present as poor theory of mind, reduced affective empathy, impaired social perception or abnormal social behaviour. Standard neuropsychological assessments lack the precision and sensitivity needed to adequately inform treatment of these failures. In this review, we present appropriate methods of assessment for each of the four domains, using an example disorder to illustrate the value of these approaches.
We discuss the clinical applications of testing for social cognitive function, and finally suggest a five-step algorithm for the evaluation and treatment of impairments, providing quantitative evidence to guide the selection of social cognitive measures in clinical practice.
1 School of Psychology, University of Queensland, St Lucia, Queensland 4072, Australia.
2 School of Psychological Sciences and Monash Institute of Cognitive &Clinical Neurosciences, Monash University, Melbourne, Victoria 3800, Australia.
3 Centre for Healthy Brain Ageing, School of Psychiatry, University of New South Wales, Prince of Wales Hospital, Randwick, New South Wales 2031, Australia.
Assessment and management helps avoid complications
Standard screening for urinary system problems in people with HSP would improve detection and management, as well as reducing the incidence of complications, resulting in an overall improved quality of life for HSPers.
Abstract
AIMS: Purposes of this study were to describe lower urinary tract symptoms (LUTS) and related urodynamic patterns in patients with hereditary spastic paraplegia (HSP) and to characterize LUTS management and associated uronephrological complications.
METHODS: We retrospectively reviewed medical files of HSP patients, consecutively followed in our Physical and Rehabilitation Medicine Department between 1999 and 2016. Clinical, urodynamic and radiological data were collected and analyzed. Different treatments that have been prescribed and uronephrological complications were also recorded. Patients with other neurological or urological diseases were excluded.
RESULTS: Thirty-three patients with HSP were included. Mean duration of follow-up was 8.1 ± 5 years, mean age 62 ± 14 years, and 70% were men. The most frequent LUTS was urgency and voiding dysfunction (both 69.7%). Incontinence and retention with a significant postvoid residue above 100 mL accounted for 66.7% and 57.6% of initial symptoms respectively. Neurogenic detrusor overactivity was diagnosed in 80.7% of patients. Two-thirds of our cohort were treated with anticholinergics and 9.1% required intradetrusor botulinum-toxin injections. Only 27.3% of patients performed clean intermittent self-catheterization. Febrile urinary tract infections (21.2%), urolithiasis (15,1%), hydronephrosis (6%) and chronic renal failure (9.1%) were found.
CONCLUSION: Given their high prevalence and the risk of uronephrological complications, LUTS should be systematically assessed in HSP patients. The systematic screening of urological dysfunction in this population would improve its management, decrease the incidence of uronephrological complications, and increase the quality of life.
According to HSPers, treatment for spasticity should have more emphasis on:
reducing pain and fatigue
improving night-time rest and general well-being
improving performance of activities to help maintain social participation
More practical support is needed for people with chronic spasticity for physical activities and social participation.
Abstract
PURPOSE: Little is known concerning the impact of chronic spasticity on physical activities, social participation, and well-being, and whether patients’ needs are addressed by current treatments. This study aims to investigate these lacunas in persons with a pure form of hereditary spastic paraplegia (HSP) in whom spasticity is a prominent symptom.
METHODS: Fourteen patients with a pure form of HSP were interviewed. These interviews were recorded, verbally transcribed, and thematically analyzed.
RESULTS: Four themes were identified which can be reflected by the phrases: (1) ‘I stumble’, (2) ‘I struggle’, (3) ‘I feel ashamed’, and (4) ‘I need support’. Balance and gait problems led to limitations in domestic activities, employment, and recreation. ‘Stumbling’ also occurred due to pain, stiffness, and fatigue. Struggling was related to the continuous need for adaptation strategies, including the abandonment of some activities. Participants further reported feelings of shame, fear, and frustration. Lastly, they needed more support in daily activities than currently provided.
CONCLUSION: Besides treating spasticity-related motor impairments, patients with HSP need practical support for optimizing their physical activities and social participation. They also seek attention for the non-motor consequences of their chronic spasticity to improve their well-being. Patient-reported outcomes might help to address these needs.
Implications for rehabilitation: According to patients with hereditary spastic paraplegia, interventions for spasticity should not only be aimed at reducing motor impairments, but also on reducing pain and fatigue, improving nighttime rest and general well-being, and optimizing the performance of relevant personal activities. Medical, role and emotional management in patients with hereditary spastic paraplegia can be improved only when individual needs are identified and monitored over the course of the disease. Besides assessment of bodily functions and physical capacities, systematic evaluation of patient-reported outcomes will help both patients and professionals to monitor the functional impact of disease progression and to evaluate the effects of interventions aimed at retarding this progression.
SOURCE: Disabil Rehabil. 2019 May 13:1-8. doi: 10.1080/09638288.2019.1610084. [Epub ahead of print] PMID: 31079503
Stumbling, struggling, and shame due to spasticity: a qualitative study of adult persons with hereditary spastic paraplegia.
