5 children with HSP who were able to walk independently received significant benefit from ITB treatment without any major or longer term adverse effects where other treatment options had been unsuccessful.
Abstract
Hereditary Spastic Paraparesis (HSP) causes lower limb spasticity, pain and limits ambulation resulting in a negative impact on an individual’s quality of life.
This case series evaluates the use of Intra-thecal Baclofen (ITB) on 5 ambulant children with HSP. Our results suggest ITB is associated with a reduction in spasticity and a trend towards improvement in patient-reported quality of life and achievement of personalised goals. This was evidenced with lower Modified Ashworth Scale (MAS) scores and increasing values using the Cerebral Palsy Quality of Life (CPQoL) tool and Goal Attainment Scale (GAS). ITB was not associated with any major immediate or longer-term adverse effects.
Overall, our study supports the role of ITB, used in a goal-directed manner, in the management of children and young people with HSP where other standard treatment options have been unsuccessful.
Liam Luff, who has HSP, has been selected for the Australian Wheelchair Rugby League train-on squad in preparation for the World Cup to be held in the UK in October and November this year. The selection followed this year’s State of Origin clash in January between NSW and QLD.
Liam on the left nearest camera. Source: Canberra Times
Liam, from Sydney, is an NDIS disability support provider for young adults with disabilities around the Sutherland Shire region. He says “There are no words to express how honoured I am to have been selected to don the green and gold for the Australian Wheelaroos for the upcoming Rugby League World Cup.
Liam commented “Massive congratulations to the other absolute legends and incredible people and athletes who have been selected to the team. This is a group of guys who will make Australia proud. I am so grateful to every single coach, teammate and competitor I’ve ever had the privilege of working with and playing against, and the entire Wheelchair Rugby League community for how supportive our family of volunteers, coaches, and players is. England can’t come soon enough! #RLWC2021“
His mother Patricia added “So proud of Liam Luff he has made the Wheelaroos team to represent Australia in the Rugby League World Cup. He has been training hard to make the team. Congratulations Love you”
The camp is to get the team focused on being ready to represent the sport on the world stage with teams from England, France, Norway, Scotland, Spain, Wales and the USA competing. Wheelaroos head coach, Brett Clark, said “Our sport in Australia has grown in leaps and bounds over the past few years. I truly believe that the team selected represents a turning point for Wheelchair Rugby League in Australia.”
Learn how physiotherapy can help with HSP in this first of our HSP Webinar Series for 2022.
Over 100 people participated in the webinar in early February – A Neuro Physio’s Role in HSP Management. Participants were split about 70/30 between people with HSP/family and medical professionals, all keen to explore making things better when living with HSP.
The session was presented by neurological physiotherapists Hannah and Kumbelin from the Advance Rehab Centre in Sydney, and featured case studies of two of their HSP patients.
The engaging presentation prompted a lengthy and enthusiastic Q&A session … it’s all in the video!
Air 4 All “aims to revolutionise air travel for passengers with reduced mobility by enabling powered wheelchair users to remain in their own wheelchair for the entire journey.”
Air 4 All works in a similar way to latch-type locking and securement systems used by many wheelchair users in their own vehicles. When a wheelchair user is flying, the seat folds up to reveal the securement space and attachments. If no wheelchair users require access, the seats function as regular airline seats.
The system is designed so that different powered wheelchair types can be certified for flying and will be able to interface with a wide range of airline seats. The Air 4 All seating system will initially be compatible only with powered wheelchairs, not manual wheelchairs.
From initially seeking genetic counselling, through gene testing, entry into an IVF program and four failed attempts, a 30-year-old woman with SPG3A finally achieved success with a normal pregnancy.
Introduction: Spastic paraplegia type 3 (SPG3) is a common autosomal dominant neurogenetic disease, presenting during childhood with symptoms of mildly progressive spasticity and weakness of the lower limbs. SPG3 develops due to mutations of the ATL1 gene that encodes atlastin-1, a GTPase crucial for the function of dendrites of corticospinal neurons. Here we present a case of preimplantation genetic testing for SPG3.
Patient and methods: A 30-year-old woman with clinical symptoms of autosomal dominant spastic paraplegia since her first year of life asked for genetic counselling. DNA sequencing revealed the existence of mutation c.715C>T (p. R239C) in the ATL1 gene, confirming the diagnosis of SPG3. The patient asked for preimplantation testing for SPG3 after in vitro fertilization. An allele-specific method of PCR amplification was created in order to distinguish the mutant and the normal allele in the patient and her mother who also had SPG3, while her normal father served as control. The same nested PCR approach was used for the preimplantation testing of 11 available embryos.
Results: The presence of the c.715C>T (p. R239C) mutation in the ATL1 gene was found in five embryos while six embryos carried normal alleles and were selected for IVF implantation. After three failed gestation attempts and one pregnancy ended by a spontaneous miscarriage in the first trimester due to a chromosomal abnormality, there was an achieved pregnancy with a totally normal embryo.
Conclusion: SPG3 may be degrading to a patient’s quality of life; therefore, appropriate genetic counselling and preimplantation molecular testing may be provided as an option of prevention in offspring.
1. Unit of Orofacial Genetics, 1st Department of Pediatrics, National Kapodistrian University of Athens, “Aghia Sophia” Children’s Hospital, Athens, Greece. cyapi@med.uoa.gr.
2. Laboratory of Molecular Genetics, Cephalogenetics Center, Athens, Greece. cyapi@med.uoa.gr.
3. University Research Institute for the Study of Genetic and Malignant Disorders in Childhood, Choremion Laboratory, “Aghia Sophia” Children’s Hospital, Athens, Greece. cyapi@med.uoa.gr.
4. Unit of Orofacial Genetics, 1st Department of Pediatrics, National Kapodistrian University of Athens, “Aghia Sophia” Children’s Hospital, Athens, Greece.
5. Laboratory of Molecular Genetics, Cephalogenetics Center, Athens, Greece.
6. 2nd Department of Neurology, National Kapodistrian University of Athens, Attikon Hospital, Athens, Greece.
7. University Research Institute for the Study of Genetic and Malignant Disorders in Childhood, Choremion Laboratory, “Aghia Sophia” Children’s Hospital, Athens, Greece.
A teenager from west Cumbria has been signed to the UK’s first female professional para-sports league.
Emily at work
Emily Branthwaite from Dearham, near Maryport, plays wheelchair basketball.
The 16-year-old, who has hereditary spastic paraplegia, has been signed up to play in the Women’s Premier League alongside some of the best players in the country.
Emily started playing wheelchair basketball when she was nine, inspired by her dad who has the same condition.
Outside of sport, Emily is studying construction, engineering and business at Energy Coast UTC in Lillyhall.
Her principal Cherry Tingle said: “She is an inspirational young woman, she has a smile on her face every day and I’m pretty sure she’ll get on to Team GB because she’s amazing and determined.”
The Women’s British Basketball League fixtures will be broadcast by the BBC, and for many players this will be the first time their performances will be on show to the public.
This case study describes a 21-year-old man who developed complicated SPG4 at the age of 13 when seizures began. Several commonly used drugs were ineffective in controlling the seizures, however the combination of three other drugs proved highly effective.
This case is another example of some types of SPG4 HSP with symptoms not confined to the motor system.
Hereditary spastic paraplegias (HSPs) are rare neurological disorders caused by degeneration of the corticospinal tract. Among the 79 causative genes involved in HSPs, variants in SPAST on chromosome 2p22, which encodes the microtubule-severing protein spastin, are responsible for spastic paraplegia type 4 (SPG4), the most common form of HSPs.
SPG4 is characterized by a clinically pure phenotype that is associated with restricted involvement of the corticospinal tract; however, it is often accompanied by additional neurological symptoms such as epilepsy and cognitive impairment. There are few reports regarding the clinical course and treatment of epilepsy associated with SPG4.
We describe a 21-year-old male patient with progressive weakness and spasticity of the lower limbs since infancy, which was complicated by epilepsy and cognitive impairment. Magnetic resonance imaging of the brain showed right hippocampal atrophy before the onset of epilepsy. Genetic analysis revealed a novel missense variant (NM_014946.4:c.1330G>C, p.Asp444His) in the SPAST gene. At the age of 13, the patient developed focal epilepsy, characterized by focal onset seizures that were preceded by a sensation of chest tightness.
Carbamazepine, levetiracetam, and zonisamide were ineffective in controlling the seizures; however, the use of lacosamide in combination with lamotrigine and valproate was highly effective in improving the seizure symptoms and led to the patient being seizure free for at least 2 years.
In conclusion, the missense variant in SPAST may cause a complex SPG4 phenotype accompanied by epilepsy and cognitive impairment, suggesting that the clinical manifestations of this condition do not confine to the motor system.
* half had a confirmed genetic diagnosis, with SPG4 by far the most common type at around 50% with SPG11 next at 12% followed by SPG7 at 6%.
* 24 years after symptom onset, 60% can still walk independently.
Introduction: Hereditary spastic paraplegias (HSP) are inherited disorders with progressive spastic gait disturbance. Advances in genetic research have improved their diagnosis but there is great uncertainty regarding the appropriate investigation strategies for HSPs. Our aim is to characterize a cohort of HSP, describing the phenotypic spectrum, genotype-specific differences and current functional status.
Methods: We performed a cross-sectional study with HSP affected patients in a tertiary center. We analyzed clinical features, diagnostic workup and follow-up of the patients.
Results: A total of 61 patients were identified with HSP. The median age of disease onset was 23 (IQR 30) years and a family history was positive in 73.8%. Most of them presented a pure phenotype and 52.4% had a confirmed genetic diagnosis: seventeen SPG4, four SPG11, two SPG7, two SPG78, one SPG3A, one SPG5, one SPG6, one SPG15, one SPG 31, one ARSACS and one X-ALD. Most families were diagnosed by single gene testing and, in six patients, molecular diagnosis was achieved with NGS techniques. In complex forms, the most striking clinical signs include cerebellar features in SPG7 and SPG78 and epilepsy in SPG6. After 24 (IQR 21) years of symptoms’ onset, 60.4% of the patients are still able to walk independently and most of them engage in rehabilitation programs.
Conclusion: In our cohort, HSP is usually not a life-limiting disorder. Accurate molecular characterization is essential to optimize care for patients and their families. Well-phenotyped cohorts are important to direct further aetiological and treatment investigations.
The UK HSP Support Group had an educational session on the topic of falls and falling for people with HSP. The session was presented by Coralie Seary a physio from the National Hospital for Neurology and Neurosurgery in London. Coralie specialises in helping people with walking difficulties.
The video is a very informative 50 minutes long. Here’s a rough guide to finding specific information:
The first 20 minutes are general information about falls
20:00 HSP
25:25 orthotics
35:30 FES (functional electrical stimulation)
40:00 other aids
41:20 exercise
42:40 bone health
43:40 how to fall
47:45 getting off the floor
Most of the information about people who fall is based on the elderly. One in three people who are over 65 have about 1 fall per year, increasing to one in two over 80. Those with neurological problems are twice as likely to fall as those without.
If you have a serious fall it can lead to a serious spiral with people fearing falling, people being less active, leading to decreases in strength or balance, leading to another fall, and so on.
There is a range of falling, with the most extreme being falling to the ground, but there are also near misses where you can prevent yourself from falling, and trips and stumbles.
Coralie noted that having HSP is more likely to put you in a vulnerable population for falls.
Risk Factors for Falling – Intrinsic (built-in)
Being older than 65
Having a walking impairment
Having other chronic conditions (perhaps arthritis)
Reduced muscle strength
Impaired balance
Fear of falling can increase your risk of falling again
Dizziness (perhaps from postural hypotension)
Inner ear/vestibular problems
Vision (make sure your glasses prescription is up to date)
Pairing one or more of these with HSP can increase your risk of falls further. Some of these can be managed to reduce risk.
Risk Factors for Falling – Extrinsic (external)
Light levels – either very dark or bright glare
Obstacles around the house – wires, rugs, piles of books/toys, etc.
Surfaces that you walk on – can choose footwear/aids to help in some circumstances
Footwear – some types of shoes can help walking. Make sure shoe laces are tied
Clothing – long clothing can get in the way of walking
Ergonomics – minimise the number of turns you have to do to complete tasks, for example making a cup of tea in the kitchen
Use of inappropriate walking aids – check your aids are still right for you and clear out old ones.
Many of these can be managed to reduce. the risk of falling.
Risk Factors for Falling – HSP Specific Factors
There are a number of HSP specific risk factors for falling.
Gait patterns – inversion of joints, knees
Weakness – hip areas, or perhaps it’s the timing of movement rather than weakness
Stiffness – can cause imbalance
Alignment of bones – can change centre of balance
Sensory changes – e.g. change in information from skin to brain
Fatigue – plan your day and energy use according to your expected fatigue levels
Bladder problems – urgency can increase risk of falls, including at night.
Reduced capacity for dual tasking.
Aids to reduce risk of falling
There are aids you can use to reduce risk of falling (and improve mobility), but it is recognised that often people have difficulty accepting the need for such aids. The best approach is to get used to using aids before having a fall, so some acceptance is needed.
Orthotics are external splits or aids to help you pick your feet up and/or stabilise your gait. They can improve stability and/or the swing of the leg when walking.
Off the shelf orthotics are more flexible and can be a good introduction to using them. Custom made ones are usually more rigid and give you more control of the ankle/foot.
Insoles (or FFO, functional foot orthoses) can help control pronation (where feet roll in) or supination (where the foot rolls outwards).
Choosing your footwear can help a lot. The important factors are the shape of the sole, with a reasonable wedge to raise the heel and a toe spring at the front to help roll forwards on your foot. Some people find high boots are useful, and there are options for adapting existing shoes.
Neoprene or fabric ankle/knee supports/splits can give some support. Some look sporty others attach to your shoes. Carbon AFOs can give you some energy back when walking. The last type is a custom-made plastic AFO which gives the most support. The AFO can help re-align the leg and hip to improve gait. There are advantages and disadvantages to each type depending on what you need to do. There is NOT a one-size fits all approach for these with HSP.
An FES system stimulates the muscles when you move. They do not give you support when you stand still. They can help you walk further. Evidence suggests that using FES can improve people’s confidence walking rather than their walking speed or function.
Other aids to minimise risk of falls that you could use are walking poles, mobility scooters, wheelchairs, grab rails, stools (for sitting on), rollators/trolleys, adaptions to bath/shower. You may need different aids in different situations – indoors/outdoors, at home/away, etc. If you have these around your house and do not use them any more, they can be an obstacle – get rid of them!
What else can you do?
Exercise can help. Tai Chi is beneficial in older people in reducing risk of falling, and the benefit could be extrapolated for use in HSP or other neurological conditions
Strength and balance training is useful.
Exercise needs to be at least 50 hours over 6 months. Do something you enjoy!
Stretches – maintain mobility, especially in calves
Look at diet to maintain bone health – take calcium and/or vitamin D if diet is suboptimal or you are not doing sufficient weight bearing activities.
How to fall
Plan how to fall. Consider the risk factors above. If you fall in one place then plan for a softer landing. You should relax and protect your head, and fall on your fleshy bits of your body. Falling on your bottom may be better than falling on your wrists.
If you’re able to, roll into the fall. You can find out better ways of falling – look up approaches that people with cerebral palsy follow – they can fall often.
Keep your mobile or an alarm handy so that you can get help, and if you live by yourself, you may need a key safe so that people can get in to help you. It may be worth keeping blankets/pillows so that if you are unable to get up you can keep yourself warm overnight.
To get up off the floor you should stay calm and assess the situation. It is worth practising getting up so you’ve done it a few times. You can discuss falling and getting up techniques with your physio.
Evan Austin, a US Paralympian (S7) with HSP won gold in Tokyo in the 50 m butterfly.
After the race, Evan said“ That’s taken over a decade of really tough, dedicated, thorough work, day in and day out with a lot of ups and a tremendous amount of downs as well. I’m so thankful. I have such a big community and village that surrounds me and supports me. My family have been truly indescribable throughout this whole process especially during the pandemic, never losing belief in me and doing everything possible to give me the ability to train and pursue this dream. All that culminated in me getting my first medal.”
But what about before Tokyo? This video, made in March, gives insight as Evan talks about having HSP, his big brother and the support of other family members, finding something he is passionate about … failing, and coming back determined to qualify for the Paralympics. There are some great messages. It might just change your perspective and may even put you in a happier place.
Evan Austin on the left
The video is long at 43 minutes, but make sure to watch the first 10 minutes and then from 14 – 19 minutes for the best bits.
