Author: SSAdmin

What can go wrong

 

The Benefits of ITB

Intrathecal baclofen (ITB), delivered via an implanted pump, carries primary indications for the reduction of spasticity in children resulting from spinal cord injury, or associated with cerebral palsy or multiple sclerosis.

ITB has been shown to significantly improve functional outcomes in gait, sitting, and crawling, as well as upper extremities, which improves activities of daily living and quality of life among young children. However, these benefits must be weighed against the risk for complications associated with ITB therapy, estimated to be as high as 25% to 30%.

Complication Rates

A 2014 study by Motta and Antonello found that 25% of pediatric patients experienced at least 1 complication over the course 14 years. Complications of ITB are usually directly related to 1 or more issues involving the surgical implantation procedure, mechanical failure of catheter/pump devices, and issues with the baclofen drug therapy, including withdrawal and overdose.

Facilities with strict protocols to prevent problems have been able to report significantly lower complication rates.

Surgical Complications

The first stage of ITB therapy involves neurosurgical introduction of a catheter under the skin into the intrathecal space (usually between the T8 and T10 vertebrae), which is then connected to a baclofen pump implanted under the skin to 1 side of the abdomen. Implantation complications resulting from the surgery or failure of the device usually arise within 6 months of the procedure.

Device-Related Complications

The most common types of complications seen with ITB are catheter-related, involving infections (usually Staphylococcus aureus) at a rate of 1% to 5% within the first 6 weeks; a 5% to 15% rate of catheter migration; and an incidence of cerebrospinal fluid leaks of about 1% per month.

This is often a result of older catheters in patients, which sometimes have microtears or may disconnect or move out of the space. Newer catheters appear to be more reliable. For complications involving failure of the pump device itself, clinicians will manage symptoms and refer the patient back to neurosurgery for replacement of the pump.

Baclofen Withdrawal

Sudden interruption of baclofen therapy can result in baclofen withdrawal, which is recognized as a serious medical emergency. Catheter-related problems, infected pump removal, empty reservoir volume, end of battery life, and programming error are the main causes. Rebound spasticity is the earliest symptom.

Baclofen Overdose

A similarly serious complication is baclofen overdose.

Read the full article.

 

SOURCE: NeurologyAdvisor, September 25, 2018

Managing Complications of Intrathecal Baclofen Therapy

Linda Peckel

 

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Paralympic canoeist moves baclofen pump to thigh

 

Competes the following week and medals

 

We present a challenging case of imminent metallic implant extrusion in a Paralympic athlete managed with a single-stage procedure using ‘Integra’ dermal (skin) substitute. The patient had hereditary spastic paraparesis, for which a baclofen pump delivering intrathecal medication was vital in the management of his condition.

The device had been most recently implanted into the thigh after previous complications. Integra provided robust soft-tissue coverage over the implanted baclofen pump in the thigh. Different operative management strategies were considered but the use of Integra was felt to offer the least morbidity and a quick recovery.

The patient was able to successfully compete in a Paralympic canoeing qualifying event the week following surgery and achieve medal success. To the authors’ knowledge, this is first case in which Integra has been used in such circumstances.

 

SOURCE: BMJ Case Rep. 2018 Nov 8;2018. pii: bcr-2018-226181. doi: 10.1136/bcr-2018-226181. PMID: 30413448

Use of Integra dermal substitute to prevent implantable device extrusion in an Olympic athlete.

Page F1, Patel K1, Jaffe W1.

1 Plastic Surgery Department, Royal Stoke University Hospital, Stoke-on-Trent, UK.

Impaired bladder function the main cause

 

9 out of 12 HSPers averaging 65 years old and almost 20 years with HSP experienced urinary symptoms, mainly:

• bladder overactivity during filling, and

• under activity during emptying.

This combination is known as DHIC (detrusor hyperactivity with impaired contraction).

 

Abstract

In order to investigate lower urinary tract function in hereditary spastic paraplegia (HSP), we recruited 12 HSP patients: 8 men, 4 women; mean age, 64.6 years; mean disease duration, 18.9 years; walk without cane, 2, walk with cane, 6, wheelchair bound, 3.

 

We performed urinary symptom questionnaires and a urodynamic testing in all patients. As a result, urinary symptoms were observed in all but 3, including urinary urgency/frequency (also called overactive bladder) in 9 and hesitancy/poor stream in 6. Urodynamic abnormalities included detrusor overactivity during bladder filling in 10, underactive detrusor on voiding in 8 (detrusor hyperactivity with impaired contraction [DHIC] in 5), detrusor-sphincter dyssynergia (DSD) on voiding in 3, and post-void residual in 5. Sphincter electromyography showed neurogenic motor unit potential in 4.

 

In conclusion, we observed high frequency of urinary symptoms in HSP. Urodynamics indicated that the main mechanism is DHIC with/without DSD for their urinary symptom, and sacral cord involvement in some cases. These findings facilitate patients’ care including clean, intermittent catheterization.

 

SOURCE: Eur Neurol. 2018 Nov 2;80(3-4):121-125. doi: 10.1159/000494030. [Epub ahead of print] PMID: 30391939

 

Lower Urinary Tract Function in Familial Spastic Paraplegia.

 

Sakakibara R1, Shimizu A2, Takahashi O2, Tateno F3, Kishi M3, Aiba Y3, Suzuki H4, Yamamoto T5, Shibata C6, Yamanishi T6.

 

1 Neurology Division, Department of Internal Medicine, Sakura Medical Center, Toho University, Sakura, Japansakakibara@sakura.med.toho-u.ac.jp.

2 Clinical Physiology Unit, Sakura Medical Center, Toho University, Sakura, Japan.

3 Neurology Division, Department of Internal Medicine, Sakura Medical Center, Toho University, Sakura, Japan.

4 Department of Urology, Sakura Medical Center, Toho University, Sakura, Japan.

5 Neurology, Chiba University, Chiba, Japan.

6 Continence Center, Dokkyo Medical College, Tochigi, Japan.

Failed to normalise muscle control and gait

 

Testing of the reticulospinal tract as a potential alternative pathway in the spinal cord to the corticospinal tract, which is damaged in HSP, resulted in some improvements but lacked the capacity to prevent the involuntary and unwanted muscle activity that is a feature of HSP.

 

When the reticulospinal tract was engaged via a sound, the shin muscles on the front of the legs below the knee, together with the most prominent thigh muscles activated much faster, and almost as fast as people without HSP. However the deep muscle in the calves, soleus, did not respond faster. Adjustments in posture that happen before taking a step, together with step reaction time were also both faster, but significantly below normal in the HSP group.

 

 

Abstract

Corticospinal lesions cause impairments in voluntary motor control. Recent findings suggest that some degree of voluntary control may be taken over by a compensatory pathway involving the reticulospinal tract. In humans, evidence for this notion mainly comes from StartReact studies.

StartReact is the acceleration of reaction times by a startling acoustic stimulus (SAS) simultaneously presented with the imperative stimulus. As previous StartReact studies mainly focused on isolated single-joint movements, the question remains whether the reticulospinal tract can also be utilized for controlling whole-body movements.

To investigate reticulospinal control, we applied the StartReact paradigm during gait initiation in 12 healthy controls and 12 patients with ‘pure’ hereditary spastic paraplegia (HSP; i.e., retrograde axonal degeneration of corticospinal tract). Participants performed three consecutive steps in response to an imperative visual stimulus. In 25% of 16 trials a SAS was applied. We determined reaction times of muscle (de)activation, anticipatory postural adjustments (APA) and steps.

Without SAS, we observed an overall delay in HSP patients compared to controls. Administration of the SAS accelerated tibialis anterior and rectus femoris onsets in both groups, but more so in HSP patients, resulting in near-normal latencies. Soleus offsets were accelerated in controls, but not in HSP patients. The SAS also accelerated APA and step reaction times in both groups, yet these did not normalize in the HSP patients.

The reticulospinal tract is able to play a compensatory role in voluntary control of whole-body movements, but seems to lack the capacity to inhibit task-inappropriate muscle activity in patients with corticospinal lesions.

 

SOURCE: J Neurol. 2018 Nov;265(11):2531-2539. doi: 10.1007/s00415-018-9027-0. Epub 2018 Aug 28. PMID: 30155740

 

StartReact during gait initiation reveals differential control of muscle activation and inhibition in patients with corticospinal degeneration.

 

van Lith BJH1, Coppens MJM2, Nonnekes J2, van de Warrenburg BPC3, Geurts AC2, Weerdesteyn V2.

 

1 Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. Bas.vanLith@Radboudumc.nl.

2 Department of Rehabilitation, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.

3 Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands.

Encourages others to try it

 

Ron’s wife Ellenor is a rower

Ron is an HSP community member in his early 60s from Geelong. Inspired by his wife Ellenor’s achievements and success in rowing, Ron recently took up the sport. Ellenor competed in multiple events at the World Masters Games in Cambridge New Zealand in April last year. Ron watched a single rower with a disability winning a gold medal and thought, “If that person can do that, I can do that”.

 

Paralympic classification

Not being happy just to learn to row to start with, Ron wanted to compete and so had to be classified according to the Paralympic classification. This process involves being checked out by a specially certified sports physio and resulted in a provisional Paralympic classification for Ron of P1 or P2. The next step in classification is to go to a state or national event for assessment by rowing administrators.

 

The learning process

Ron went to the local rowing club in Geelong – the Corio Bay Rowing Club – and started out in a tub double with an experienced partner on the Barwon River. Ron has also tried a single scull and says that is a lot more difficult. Ron says “getting in and out is a big challenge as the boat is at ankle level, it moves in the water and it is tippy. I have to get down and slide in and out. Lack of balance, muscle weakness and spasticity don’t help but I haven’t fallen in the river getting in or out while trying a single scull, but actually rowing however, is another matter. Once on the water, staying upright is a skill all in itself using the oars. Then fitness, strength and technique are what’s needed and I would say that the strength in my quads (thigh muscles) has improved. Another added benefit is the tiredness and lead weight feeling has subsided a great deal. It’s not gone but is definitely a lot less”.

 

Ron trains 1 to 3 times a week for about an hour and says that it is a good cardiovascular workout. Ron says “I had never heard of anyone with HSP doing rowing as a sport, but I think it is really well suited to our disability. I hope I can encourage other HSPers to give it a go”.

 

Going for bling in Kyoto 2021!

Having trained and developed skill over last summer, Ron had his first race in April this year at a local regatta over 500m in a tub double scull. He is now spending more time in a single scull and is hoping to compete at Rutherglen, Victoria on the Murray River in January. But Ron’s sights, and those of his wife Ellenor are firmly towards the Kyoto World Masters Games in 2021, where Ron has the goal of, put simply, “going for bling!”.

 

 

Ask for help, take time for yourself

 

HSP is not a ‘solo’ condition. It impacts and affects partners, immediate and often extended family members, occasionally neighbours and to some extent the communities that HSPers live in.

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However there is a special role for people who are caregivers – and for caregiving and the relationships involved to be sustainable

– caregivers need to also care for themselves.

 

This is not an either-or situation. Caring for one’s self is necessary to be able to care for someone else.

 

 

Here is a newspaper article from Minnesota USA on survival tips from four caregivers:

Robin Schroeder loved her job as chief financial officer for the dairy company her great-grandfather founded in 1884. But when her parents’ health began to deteriorate almost simultaneously about a decade ago, Schroeder found it impossible to manage the demands of a multimillion dollar business, a staff of 300 and aging parents. In 2010 she left Schroeder Dairy and became a consultant. Her mother, Lorraine, had Alzheimer’s disease for 18 years; her father, Bill, had hereditary spastic paraplegia, a rare condition that affected the strength in his legs and arms, and meant he needed a wheelchair and other lifting equipment. Schroeder moved a few doors down from her parents in Roseville with her husband and daughters, 22 and 25. Her parents died in 2017, about eight months apart.

 

How did your life change when you became a caregiver? Everything I did, I had to consider my parents. Even though I hired staff from Home Instead, I was connected all the time because so much was unpredictable. If I was traveling for work or wanted to go to my daughter’s graduation in Fargo, no matter what I did, I had to think about my parents first. Before I started taking care of them, they were my resource, and then I became their resource. When I went to visit my sister in Texas after she got married, I had to train my other sister and brother what to do here. I was on the phone half the time I was in Texas because they weren’t the main people, and they didn’t know what to do. So I might not be there physically full time, but I was always there.

 

What were your biggest challenges? That the situation kept changing. The care level my dad or mom needed was fine this week and all of a sudden, my dad couldn’t transfer. We didn’t want to put him in a nursing home, so I had to figure out, how many more additional people do I need to hire? Managing all the different helpers, trying to figure out the training, there were a lot of moving parts. It’s not like you set it up and you’re done. There’s always something else happening, and it’s things I’d never dealt with before. It really came down to me figuring out what resources I needed. That was a challenge. Then my dad starting going mentally, and Mom had dementia, so now there’s the challenge of how do I communicate with them and comfort them?

 

What do you wish you had? It would have been nice to have another one of me — who was as involved as I was, who knew all the intimate details so they didn’t have to call me to figure out how to handle something, and no turnover. What happened was that the doctor would know this piece, the Home Instead caregiver would know this piece, the hospital, the neurologist would know this other thing. There really isn’t anybody who knows it all. So wherever you’re going, you’re constantly telling the rest of the story: No, you can’t do that to Dad because his legs don’t bend. No, my mom doesn’t like dairy, so don’t give it to her.

 

Survival techniques: My women friends were particularly helpful because a number of them had parents who were aging or failing or who had died. I couldn’t have done it without my husband. You had to be able to say things out loud. I love my parents, and I’d do it again. There were times it was overwhelming. I had to be able to cry or talk it out. I also have a strong faith. Being able to pray and meditate was important. And going to yoga. I had to absolutely make time to work out. Because if I didn’t stay physically, spiritually and mentally strong, I wasn’t going to be any good to my parents.

 

SOURCE: Star Tribune June 2, 2018

by Jackie Crosby

 

Ask for help, take time for yourself: caregivers share survival tips

Four caregivers in their own words

Full article: http://www.startribune.com/they-ask-for-help-they-take-time-for-themselves-caregivers-share-survival-tips/484199231/

Improved mobility and range of motion

 

A home-based, self-implemented, 12 month long program of intense duration stretching by people with muscle weakness and spasticity such as occurs with HSP, has led to:

• significantly increased walking speed – up an average of 41%

• significantly increased range of motion in 47% of participants

• superior results to a similar clinic-based stretching group on a measure of muscle shortening.

 

Two thirds of the home-based group (8/12) were assessed in a higher functional ambulation (walking) category after 12 months.

 

The daily regime involves six, high load, static stretching exercises of at least 15 minutes cumulative duration over the day each… So a minimum of 90 minutes total stretching a day.

 

If you watch at least 90 minutes of TV a day, you now know where to find the time to implement this program that can provide enormous benefit in mobility and quality of life.

 

 

Abstract

BACKGROUND: In current health care systems, long-duration stretching, performed daily, cannot be obtained through prescriptions of physical therapy. In addition, the short-term efficacy of the various stretching techniques is disputed, and their long-term effects remain undocumented.

OBJECTIVE: To evaluate changes in extensibility in 6 lower limb muscles and in ambulation speed after a ≥1-year self-stretch program, the Guided Self-rehabilitation Contract (GSC), in individuals with chronic spastic paresis.

DESIGN: Retrospective study comparing self-stretched and non self-stretched muscles.

SETTING: Neurorehabilitation clinic.

PARTICIPANTS: Patients diagnosed with hemiparesis or paraparesis at least 1 year before the initiation of a GSC and who were then involved in the GSC program for at least 1 year.

INTERVENTIONS: For each patient, specific muscles were identified for intervention among the following: gluteus maximus, hamstrings, vastus, rectus femoris, soleus, and gastrocnemius. Prescriptions and training for a daily, high-load, prolonged, home self-stretching program were primarily based on the baseline coefficient of shortening, defined as CSH = [(XN -XV1)/XN] (XV1 = PROM, passive range of motion; XN = normally expected amplitude).

MAIN OUTCOME MEASUREMENTS: Six assessments were performed per year, measuring the Tardieu XV1 or maximal slow stretch range of motion angle (PROM), CSH, 10-m ambulation speed, and its functional ambulation category (Perry’s classification: household, limited, or full). Changes from baseline in self-stretched and nonself-stretched muscles were compared, with meaningful XV1 change defined as ΔXV1>5° for plantar flexors and >10° for proximal muscles. Correlation between the composite XV1 (mean PROM for the 6 muscles) and ambulation speed also was evaluated.

RESULTS: Twenty-seven GSC participants were identified (14 women, mean age 44 years, range 29-59): 18 with hemiparesis and 9 with paraparesis. After 1 year, 47% of self-stretched muscles showed meaningful change in PROM (ΔXV1) versus 14% in nonself-stretched muscles (P < .0001, χ2). ΔCSH was -31% (95% confidence interval [95% CI] -41.5 to -15.2) in self-stretched versus -7% (95% CI -11.9 to -2.1) in nonself-stretched muscles (P < .0001, t-test). Ambulation speed increased by 41% (P < .0001) from 0.81 m/s (95% CI 0.67-0.95) to 1.15 m/s (95% CI 1.01-1.29). Eight of the 12 patients (67%) who were in limited or household categories at baseline moved to a higher functional ambulation category. There was a trend for a correlation between composite XV1 and ambulation speed (r = 0.44, P = .09) in hemiparetic patients.

CONCLUSION: Therapists should consider prescribing and monitoring a long-term lower limb self-stretch program using GSC, as this may increase muscle extensibility in adult-onset chronic paresis.

 

SOURCE: PM R. 2018 Mar 2. pii: S1934-1482(17)30422-7. doi: 10.1016/j.pmrj.2018.02.013. [Epub ahead of print] PMID: 29505896 Copyright © 2018 American Academy of Physical Medicine and Rehabilitation. Published by Elsevier Inc. All rights reserved.

 

Effect on Passive Range of Motion and Functional Correlates After a Long-Term Lower Limb Self-Stretch Program in Patients With Chronic Spastic Paresis.

Pradines M1, Baude M2, Marciniak C3, Francisco G4, Gracies JM5, Hutin E5, Bayle N5.

1 EA 7377 BIOTN, Laboratoire Analyse et Restauration du Mouvement, Université Paris Est Créteil (UPEC), Créteil, Cedex; and AP-HP, Service de Rééducation Neurolocomotrice, Hôpitaux Universitaires Henri Mondor 51 Avenue du Maréchal de Lattre de Tassigny, 94000 Créteil, France. Electronic address: maudprad@gmail.com.

2 EA 7377 BIOTN, Laboratoire Analyse et Restauration du Mouvement, Université Paris Est Créteil (UPEC), Créteil, Cedex; and AP-HP, Service de Rééducation Neurolocomotrice, Hôpitaux Universitaires Henri Mondor, Créteil, France.

3 Department of Physical Medicine and Rehabilitation and Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.

4 Department of Physical Medicine and Rehabilitation, University of Texas Health Science, Center at Houston (UTHealth), NeuroRecovery Research Center at TIRR Memorial Hermann, Houston, TX.

5 EA 7377 BIOTN, Laboratoire Analyse et Restauration du Mouvement, Université Paris Est Créteil (UPEC), Créteil, Cedex; and AP-HP, Service de Rééducation Neurolocomotrice, Unité de Neurorééducation, Hôpitaux Universitaires Henri Mondor, Créteil, France.

Brain and nerves affected

 

Low levels of movement, muscle disuse and lack of exercise are linked to impaired brain metabolism, motor neurons and their interaction with muscle cells.

 

The overall message is the importance of movement of whatever sort in helping maintain brain and nerve function, maximising mobility and quality of life.

 

 

Abstract

Both astronauts and patients affected by chronic movement-limiting pathologies face impairment in muscle and/or brain performance. Increased patient survival expectations and the expected longer stays in space by astronauts may result in prolonged motor deprivation and consequent pathological effects.

 

Severe movement limitation can influence not only the motor and metabolic systems but also the nervous system, altering neurogenesis and the interaction between motor neurons and muscle cells. Little information is yet available about the effect of prolonged muscle disuse on neural stem cells  characteristics.

 

Our in vitro study aims to fill this gap by focusing on the biological and molecular properties of neural stem cells (NSCs). Our analysis of NSCs derived from the SVZ of HU mice show a reduced proliferation capability and an altered cell cycle. Furthermore, NSCs obtained from HU animals present an incomplete differentiation/maturation.

 

The overall results support the existence of a link between reduction of exercise and muscle disuse, and metabolism in the brain and thus represent valuable new information that could clarify how circumstances such as the absence of load and the lack of movement that occurs in people with some neurological diseases, may affect the properties of NSCs and contribute to the negative manifestations of these conditions.

 

SOURCE: Front Neurosci. 2018 May 23;12:336. doi: 10.3389/fnins.2018.00336. eCollection 2018. PMID: 29875623

 

Reduction of Movement in Neurological Diseases: Effects on Neural Stem Cells Characteristics.

Adami R1, Pagano J1, Colombo M1, Platonova N1, Recchia D2, Chiaramonte R1, Bottinelli R2, Canepari M2, Bottai D1.

1 Department of Health Science, University of Milan, Milan, Italy.

2 Department of Molecular Medicine, University of Pavia, Pavia, Italy.

 

Read the entire article …   https://www.frontiersin.org/articles/10.3389/fnins.2018.00336/full

The findings of two studies

 

Botox reduces fatigue in adults with HSP, but no improvement in mobility.

 

No significant improvement in mobility was found with Botox injections in a study of 33 adult HSPers, despite there being a decrease in spasticity in the adductor muscles. However there was a significant reduction in fatigue scores with the Botox.

 

Abstract

Motor and non-motor manifestations are common and disabling features of hereditary spastic paraplegia (HSP). Botulinum toxin type A (Btx-A) is considered effective for spasticity and may improve gait in these patients.

Little is known about the effects of Btx-A on non-motor symptoms in HSP patients.

Objective: To assess the efficacy of Btx-A on motor and non-motor manifestations in HSP patients.

Methods: Thirty-three adult patients with a clinical and molecular diagnosis of HSP were evaluated before and after Btx-A injections.

Results: Mean age was 41.7 ± 13.6 years. There were 18 women and 15 men. Most patients had a pure phenotype and SPG4 was the most frequent genotype. The Btx-A injections resulted in a decrease in spasticity at the adductor muscles, and no other motor measure was significantly modified. In contrast, fatigue scores were significantly reduced after Btx-A injections.

Conclusion: Btx-A injections resulted in no significant functional motor improvement for HSP, but fatigue improved after treatment.

 

SOURCE: Arq Neuropsiquiatr. 2018 Mar;76(3):183-188. doi: 10.1590/0004-282×20180013. PMID: 29809239

 

Botulinum toxin for hereditary spastic paraplegia: effects on motor and non-motor manifestations.

Servelhere KR1, Faber I1, Martinez A1, Nickel R2, Moro A2, Germiniani FMB2, Moscovich M2, Blume TR2, Munhoz RP2, Teive HAG2, França MC Jr1.

1 Departamento de Neurologia, Hospital de Clínicas, Universidade Estadual de Campinas, Campinas, SP, Brasil.

2 Departamento de Medicina Interna, Serviço de Neurologia, Unidade de Distúrbios do Movimento, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, PR, Brasil.

 

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Botox useful for kids with HSP

 

But not for all, and occasional mild adverse effects.

 

Botox is a useful and safe treatment of spasticity in children with HSP, both in the short and long-term.

 

It improved spasticity universally and some degree of functionality in more than one third of cases.

 

Adverse effects are mild and occur in about 10% of cases, while small numbers had poorer scores on some of the measures with treatment.

 

Abstract

Introduction and Objectives: BoNT-A has proved to have an important role in the treatment of spasticity produced by nonprogressive disorders, such as cerebral palsy (CP). There are few reports about the use of BoNT-A in HSP, and these are rarely about children. The objective was to investigate the results of treatment with BoNT-A in a large series of children with HSP.

 

Methods: The children were diagnosed using neuroimaging (magnetic resonance imaging), neurophysiologic (motor nerve conduction studies, sensory nerve conduction studies, somatosensory evoked potentials, visual evoked potentials, and transcranial magnetic stimulation) and genetic studies, and other etiologies were excluded. BoNT-A was injected using electromyography, electrostimulation, or palpation and anatomic localization, always with conscious analgesia using nitrous oxide 50%, ethyl chloride spray, or EMLA cream. All the patients were assessed at each injection and 2-3 months later, using scales of function and spasticity and a questionnaire to collect details of adverse events (AE). The Physician Rating Scale (PRS) was used to assess the type of foot support, hip adduction, and popliteal angle during gait, and the active foot dorsiflexion. The spasticity scales used were the Modified Ashworth Scale (MAS) and the Tardieu Scale.

 

Results: Sixty-three cases of HSP were treated. Genetic studies were done in 46. Different causal mutations were found in 15 cases (SPG4, SPG3A, SPG11, PLA2G6). There were four cases with 2 family members affected, but no mutations have been found so far; and there were 23 other sporadic cases with only partial genetic studies, but with negative results so far.

 

The average age at onset was 7 years (y) 5 months (mo), with reinjections every 4.8 mo on average. The data are shown in Tables 1 and 2. Ambulant (Gross Motor Function Classification System ([GMFCS]) level I or II) patients represented 63.5% of the total number of patients. The total doses/kg of body weight (bw) of BoNT-A injected by session were in the range of recommended doses in childhood spasticity but slightly lower than those used by our team in spasticity due to CP. All patients showed improved spasticity in most of the muscles. With regard to functionality, comparing the first and last examinations, 42.2% of patients improved and 4.3% had worsened foot support during gait; 35.5% improved and 5.9% had worsened adduction of the hips; 32.2% improved and 8.5% had a worsened popliteal angle; and 40.5% improved and 5.1% had worsened active foot dorsiflexion. The proportion of injections that produced AEs was 10.8%. The AEs consisted of minimal or slight tiredness or weakness that did not prevent any of the activities of daily living (80%), moderate weakness (13.8%), and significant weakness (2%). AEs lasted less than 5 days in 44% of cases and more than a week in 56%. These data indicate a good safety profile although less safe than the data that we have observed in CP (3% of AEs).

 

Conclusions: BoNT-A is a useful and safe treatment of spasticity in HSP, both in the short and long term. It improved spasticity in all cases and some degree of functionality in more than a third of cases. The doses injected must be carefully calculated and are lower than those for nonprogressive disorders. AEs are infrequent and mild, but must be expected in a proportion of cases.

 

SOURCE: Abstracts / Toxicon 123 (2016) S2eS90 

 

Effectiveness of botulinum toxin type a (BONT-A) in long-term treatment of hereditary spastic paraplegia in children: review of a series of 63 cases

Mar Garcia-Romero a, Mercedes Martinez-Moreno b, Samuel Ignacio Pascual-Pascual a.

a Neuropediatric Department, Hospital Universitario La Paz, IDIPAZ, Universidad Autonoma de Madrid, Madrid, Spain

b Pediatric Rehabilitation Department, Hospital Universitario La Paz, IDIPAZ, Universidad Autonoma de Madrid, Madrid, Spain

 

Earliest age of onset are most affected

 

This study of three groups of 12 children – one group with HSP, one group with Cerebral Palsy and the third group made up of typically developing children – showed that muscle growth and development in HSP children overall is not significantly different to normal development.

 

However those children with the earliest age of onset exhibit the most difference in the muscle tested (medial gastrocnemius) and the most affected gross motor function overall.

 

Children with cerebral palsy did show significantly different muscle growth and development. Other aspects of muscle morphology and gait deviation, joint stiffness and spasticity were not assessed in this study.

 

Abstract

Hereditary spastic paraplegia (HSP) is a heterogeneous group of genetic disorders, characterised by altered muscle function. The clinical presentation is often similar to bilateral spastic cerebral palsy (SCP) but the etiology differs since HSP is defined by various ages of symptom onset [1]. Recent investigations highlighted the importance of impaired muscle growth in SCP [2].

 

Studies on muscle morphology in HSP however are lacking, and it can be questioned if age of symptom onset is related. Estimating the muscle properties of the medial gastrocnemius (MG) in an HSP, SCP and typically developing (TD) cohort, along with exploring the impact of age symptom onset in the subject with HSP, may therefore provide insight into altered muscle function in HSP.

 

Results

The HSP and SCP-cohort had smaller normalised muscle length nML and higher mean echo intensity EI than the TD-cohort, but differences were only significant for the SCP-cohort (nML p=0.014 and EI, p≤0.001). Mean nML and EI were not significantly different between the HSP and TD cohort. In the HSP-cohort, the early-onset group showed a tendency for higher GMFCS levels and greater alterations in MG nML and EI.

 

Discussion

This study investigated altered nML and EI of the MG in HSP children. Our results revealed that the HSP-cohort is less morphologically involved in comparison to the SCP cohort. The additional HSP cohort exploration suggests that the age of symptom onset may be a factor influencing the extent of morphological alterations. Further research should also focus on the other involved muscles and include other aspects of muscle morphology. In addition, a measure of gait deviation, ankle joint stiffness and spasticity may provide further insights into their potential aetiology.

 

References

[1] Salinas, et al., The Lancet Neurology (2008).

[2] Cenni, et al., Computer Methods and Programs in Biomedicine (2018).

 

SOURCE: Gait Posture. 2018 Jul 19. pii: S0966-6362(18)30811-7. doi: 10.1016/j.gaitpost.2018.06.083. [Epub ahead of print] PMID: 30033349

 

How comparable are the alterations in muscle morphology in age-matched children with hereditary spastic paraplegia and spastic cerebral palsy?

De Beukelaer N1, Schless SH2, Hanssen B2, Cenni F3, Peeters N2, Bar-On L2, Ortibus E4, Desloovere K2, Van Campenhout A5.

1 KU Leuven, Department of Rehabilitation Sciences, Leuven, Belgium. Electronic address: nathalie.debeukelaer@kuleuven.be.

2 KU Leuven, Department of Rehabilitation Sciences, Leuven, Belgium.

3 KU Leuven, Department of Medical Engineering, Leuven, Belgium.

4 KU Leuven, Department of Development and Regeneration, Leuven, Belgium.

5 UZ Leuven, Department of Orthopaedic Surgery, Leuven, Belgium.

New thinking, new ideas

 

Haley MacLeod, a young Canadian student who has recently completed a PhD study In Health Informatics at Indiana University, has come up with some fresh thinking and some novel ideas about the potential for tangible mutual support amongst people with rare diseases.

 

Haley makes the point that, seen individually, rare diseases are just that… rare, but given that there are around 7,000 rare diseases, if everyone in the world with a rare disease lived in the one country, it would be the third largest country on earth, behind only China and India in numbers.

 

Haley says “A huge number of the population aren’t getting the resources they need. I’m interested in the common experiences that come up as a result of having something so rare and ways we can support that through online social communities or through tools to connect with family members. What excites me the most is technology that can really make a difference in the lives of everyday, normal people, especially in the context of people who might have a chronic disease that isn’t their only priority”. She continues “I’m interested in ways technology can help them balance picking up their kids from soccer practice with trying to get exercise. I want to find a way to help someone manage their diabetes while still allowing them to go to dinner with their friends”.

 

To help get her message across, Haley made a YouTube video featuring a dance performance and dialogue to convey her thoughts and ideas … definitely worth watching!