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Making life easier for carers

Carer Gateway is an initiative of the Federal Government Department of Social Services with the aim of making life easier for carers.

They will connect you with a new Australia-wide network of service providers. They will talk through what you need and help you to find local services and support to help you.

See the list of service providers in each State and Territory.

To register, call: 1800 422 737 or visit: https://www.carergateway.gov.au/

Carers can access:

• Counselling- Debrief, learn communication tools and self-care practices
• Peer connection – 5 weeks of sessions
• Coaching – 1 to 1 coaching to help you towards a special goal
• Carer Directed supports – eg: domestic assistance, equipment hire short term, lawn mowing, planned respite 
• One-Off Practical – practical items, eg: school uniforms for young carers, microwave, vacuum, lap tops, phones. – all linked to your carer needs and the assessment/planning conversation.
• Emergency respite – emergency situations, stress, injury – to the carer. Also, Short term emergency respite care is available if you are a carer experiencing an urgent, unplanned event that temporarily restricts your ability to continue in your caring role.
• Payments for some carers in certain circumstances.

Take the survey to guide research

16 to 25-year-olds with HSP are being invited to participate in the ‘Uplift Project’ that aims to research and promote well-being for younger people living with chronic conditions.

The Telethon Kids Institute have initiated the ‘Uplift Project’. The team are asking individuals between 16-25yrs old living with a chronic health condition to participate in a wellbeing survey to guide this important research. 

This will be the first of several studies that will ultimately help shape the development of an online wellbeing program for youth and younger adults living with chronic conditions.

To qualify, participants should:  

1. Be aged 16-25  

2. Live in Australia  

3. Be diagnosed with a chronic condition.

Take the survey here: https://curtin.au1.qualtrics.com/jfe/form/SV_bltm1gXPKEF3qOq 

Insufficient safety and risk/benefit data

There are a number of cannabis preparations used in the treatment of chronic neuropathic pain and spasticity, however only one product is approved by regulatory authorities in Europe and Canada. There is insufficient knowledge of the safety/risk profile of these other products.

Abstract

Products derived from the plant Cannabis sativa are widely appreciated for their analgesic properties and are employed for the treatment of chronic neuropathic pain. Only nabiximols, a product composed of two extracts containing similar percentages of the two cannabinoids cannabidiol and delta-9-tetrahydrocannabinol, is approved by regulatory authorities for neuropathic pain and spasticity due to multiple sclerosis in many European countries and Canada. It is also included in pharmacovigilance systems monitoring the occurrence of adverse drug reactions. However, it is not the same for the great variety of other cannabis preparations widely used for medical purposes.

This creates a situation characterized by insufficient knowledge of the safety of cannabis preparations and the impossibility of establishing a correct risk–benefit profile for their medical use in the treatment of chronic neuropathic pain.

With the aim to explore this issue more deeply, we collected data from published clinical studies reporting on adverse reactions from the use of cannabis for neuropathic relief.

SOURCE:  Molecules. 2021 Oct; 26(20): 6257. Published online 2021 Oct 16. doi: 10.3390/molecules26206257 PMID: 34684842

Safety of Medical Cannabis in Neuropathic Chronic Pain Management

Alessandra Bennici,¹ Carmen Mannucci,² Fabrizio Calapai,³ Luigi Cardia,⁴ Ilaria Ammendolia,⁴ Sebastiano Gangemi,¹ Gioacchino Calapai,^2,* and Daniel Griscti Soler¹

1. Operative Unit and School of Allergy and Clinical Immunology, Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy;

2. Department of Biomedical and Dental Sciences and Morphological and Functional Imaging, University of Messina, 98125 Messina, Italy;

3. Department of Chemical, Biological, Pharmaceutical and Environmental Sciences, University of Messina, 98125 Messina, Italy;

4. Department of Clinical and Experimental Medicine, University of Messina, 98125 Messina, Italy.

All with HSP invited to take the survey

The 2021 survey of people with HSP by Adam Lawrence, Chair of the UK HSP Support Group, is now available.

The survey is available in English, Italian, Dutch, French, Spanish, Portuguese and German. Click on the relevant link in the table to below to access the survey in that language.

The focus for this year’s survey is: 

• Relationships
• Information
• Acceptance
• Life with HSP, including some bladder questions.

Similar to recent years the analysis of answers will take into account both mobility and wellbeing. The survey will be available until around the end of December, 2021, with results published on Rare Disease Day 2022 – Monday 28th February.

Use this link to answer survey questions in English:  https://forms.gle/TsmuSMgjUfsy8Qda8

Or from here you can answer in your choice of 7 languages:  http://hspjourney.blogspot.com/2021/10/2021-survey-open.html

SOURCE: 2021 Survey Open

http://hspjourney.blogspot.com/2021/10/2021-survey-open.html

Adam Lawrence

Correlate with fear of falling, quality of life and mobility

The value of four functional gait measures combined, as a reflection of fear of falling, quality of life and mobility was established in this study of 22 people with pure HSP.

Objective: Gait impairment is the cardinal motor symptom in hereditary spastic paraplegias (HSPs) possibly linked to increased fear of falling and reduced quality of life (QoL). Disease specific symptoms in HSP are rated using the Spastic Paraplegia Rating Scale (SPRS). However, limited studies evaluated more objectively easy-to-apply gait measures by comparing these standardized assessments with patients’ self-perceived impairment and clinically established scores. Therefore, the aim of this study was to correlate functional gait measures with self-rating questionnaires for fear of falling and QoL, and with the SPRS as clinical gold standard.

Methods: HSP patients (“pure” phenotype, n = 22) fulfilling the clinical diagnostic criteria for HSP and age-and gender-matched healthy subjects (n = 22) were included in this study. Motor impairment was evaluated using the SPRS, fear of falling by the Falls Efficacy Scale-International (FES-I), and QoL by SF-12. Functional gait measures included gait speed and step length (10-meter-walk-test), the Timed up and go test (TUG), and maximum walking distance (2-min-walking-test).

Results: Functional gait measures correlated to fear of falling (gait speed: r = -0.726; step length: r = -0.689; TUG: r = 0.721; 2-min: r = -0.709) and the physical component of QoL (gait speed: r = 0.541; step length: r = 0.531; TUG: r = -0.512; 2-min: r = 0.548). Furthermore, FES-I (r = 0.767) and QoL (r = -0.728) correlated with the clinical gold standard (SPRS). Gait measures strongly correlated with SPRS (gait speed: r = -0.787; step length: r = -0.821; TUG: r = 0.756; 2-min: r = -0.791).

Conclusion: Functional gait measures reflect fear of falling, QoL, and mobility in HSP. The metric, semi-quantitative gait measures complement the clinician’s evaluation and support the clinical workup by more objective parameters.

SOURCE:  Clin Neurol Neurosurg. 2021 Oct;209:106888. doi: 10.1016/j.clineuro.2021.106888. Epub 2021 Aug 17. PMID: 34455170 Copyright © 2021 Elsevier B.V. All rights reserved.

Functional gait measures correlate to fear of falling, and quality of life in patients with Hereditary Spastic Paraplegia: A cross-sectional study

Heiko Gaßner  1 , Julia List  2 , Christine F Martindale  3 , Martin Regensburger  2 , Jochen Klucken  4 , Jürgen Winkler  2 , Zacharias Kohl  5

1. Department of Molecular Neurology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg (FAU), Schwabachanlage 6, 91054 Erlangen, Germany.

2. Department of Molecular Neurology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg (FAU), Schwabachanlage 6, 91054 Erlangen, Germany.

3. Machine Learning and Data Analytics Lab, FAU, Erlangen, Germany.

4. Medical Valley – Digital Health Application Center GmbH, Bamberg, Germany; Fraunhofer Institute for Integrated Circuits IIS, Erlangen, Germany.

5. Department of Molecular Neurology, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nürnberg (FAU), Schwabachanlage 6, 91054 Erlangen, Germany; Department of Neurology, University of Regensburg, Regensburg, Germany.

New comparison website will help

IVF is a real option for people with a family history of HSP wanting a baby free from HSP. However IVF is not only expensive but is also shrouded in secrecy.

One in six Australian couples of reproductive age experience difficulties conceiving a child. Now for the first time, would-be parents will have access to the performance rates of Australia’s individual IVF clinics – allowing greater transparency about success rates.

Couples will also be able to predict their chance of having a baby through IVF by entering their age and clinical details into a calculator on the YourIVFSuccess website.

The statistics behind the tool come from the University of New South Wales’ (UNSW) Australian and New Zealand Assisted Reproduction Database which records every IVF procedure ever undertaken in Australia.

Four measures of a clinic’s performance will be reported including the overall chance of having a baby from any egg retrieval and the chance of having a baby from the first ever egg retrieval.

For each measure, the website compares the individual clinic’s performance to the national average success rate and it also compares success by age group, with age being such an important factor.

Women younger than 30 have a 40 per cent chance of having a baby using IVF but for women over the age of 44, the live birthrate is just 0.8 per cent for a fresh cycle and 7.8 per cent for frozen embryos.

The site includes success rates for 2017 and 2018 but later this year will be updated with 2019 data.

From 2022 it will be publishing the clinical pregnancy rates for 2021 and will be updated every six months.

Read the entire article

SOURCE: Queensland Times 12 Feb 2021

Australia’s best performing IVF clinics revealed

by Sue Dunlevy and Jane Hansen

Support for similar treatment approaches

This Belgian study confirmed that children with HSP and cerebral palsy (CP) both have significantly smaller muscle volume in the inner head of the calf muscle and heightened reflexes. However, more children with HSP than CP have ankle clonus, which is more severe; while there is higher muscle activity in HSP vs CP as a result of faster stretches.

Overall it is thought that similar treatment approaches in the two groups are warranted.

Abstract

Hereditary spastic paraplegia (HSP) is a neurological, genetic disorder that predominantly presents with lower limb spasticity and muscle weakness. Pediatric pure HSP types with infancy or childhood symptom onset resemble, in clinical presentation, children with bilateral spastic cerebral palsy (SCP). Hence, treatment approaches in these patient groups are analogous. Altered muscle characteristics, including reduced medial gastrocnemius (MG) muscle growth and hyperreflexia have been quantified in children with SCP, using 3D-freehand ultrasound (3DfUS) and instrumented assessments of hyperreflexia, respectively. However, these muscle data have not yet been studied in children with HSP.

The Study

Therefore, we aimed to explore these MG muscle characteristics in HSP and to test the hypothesis that these data differ from those of children with SCP and typically developing (TD) children. A total of 41 children were retrospectively enrolled including (1) nine children with HSP (ages of 9-17 years with gross motor function levels I and II), (2) 17 age-and severity-matched SCP children, and (3) 15 age-matched typically developing children (TD).

Results

• Clinically, children with HSP showed significantly increased presence and severity of ankle clonus compared with SCP (p = 0.009).
• Compared with TD, both HSP and SCP had significantly smaller MG muscle volume normalized to body mass (p ≤ 0.001).
• Hyperreflexia did not significantly differ between the HSP and SCP group.
• In addition to the observed pathological muscle activity for both the low-velocity and the change in high-velocity and low-velocity stretches in the two groups, children with HSP tended to present higher muscle activity in response to increased stretch velocity compared with those with SCP.

Conclusions

This exploratory study is the first to reveal MG muscle volume deficits in children with HSP. Moreover, high-velocity-dependent hyperreflexia and ankle clonus is observed in children with HSP. Instrumented impairment assessments suggested similar altered MG muscle characteristics in pure HSP type with pediatric onset compared to bilateral SCP. This finding needs to be confirmed in larger sample sizes. Hence, the study results might indicate analogous treatment approaches in these two patient groups.

SOURCE:  Front Neurol. 2021 Feb 26;12:635032. doi: 10.3389/fneur.2021.635032. eCollection 2021. PMID: 33716937 Copyright © 2021 De Beukelaer, Bar-On, Hanssen, Peeters, Prinsen, Ortibus, Desloovere and Van Campenhout.

Muscle Characteristics in Pediatric Hereditary Spastic Paraplegia vs. Bilateral Spastic Cerebral Palsy: An Exploratory Study

Nathalie De Beukelaer  1   2 , Lynn Bar-On  3 , Britta Hanssen  1   2 , Nicky Peeters  1   2 , Sandra Prinsen  4 , Els Ortibus  5 , Kaat Desloovere  1   2 , Anja Van Campenhout  1   4   5

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

2. Clinical Motion Analysis Laboratory, University Hospitals Leuven, Leuven, Belgium.

3. Department of Rehabilitation Medicine, Amsterdam University Medical Center, Amsterdam, Netherlands.

4. Department of Orthopedics, University Hospitals Leuven, Leuven, Belgium.

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

Dual role of parent & caregiver for children with disability

The parents of children with rare diseases face exceptional circumstances which influence their role as parents. They need trust and to overcome fear in order to live without overwhelming anxiety.

Their children require so much time, attention, physical and emotional energy that the parents “have and perceive a much greater burden than that typically associated with raising children. Trust allows them to confront the situation with a more positive outlook,” said Dr. Gómez-Zúñiga, who explained that it is not just a question of trusting in the doctors, but also of trusting in your own strength, that you will have enough energy for daily life, in the suitability of the treatment, in the adequacy of the resources available or in the effectiveness of the support received by other parents in similar circumstances.

Diagnosis was found to be the turning point in a long process of achieving this trust which allows the role of parent/caregiver to be confronted without high levels of stress, fatigue, insecurity or uncertainty.

Abstract

In this paper, we propose a vision of the role of parent/caregiver with children affected by a rare disease. This vision is rooted in data obtained from our own research; however, our analysis and interpretation of this data have been subsequently checked against existing theoretical models. The research aims to explore how parents who look after children with a rare disease experience their role as caregivers and how they assimilate their role identity in this task. Semi-structured interviews were performed with parents of 10 children, and a qualitative data analysis was conducted using grounded theory.

We have identified ten main categories using a grounded theory approach: stress, disorientation, insecurity, isolation, faith, trust, attention, communication with professionals, private proactivity and public proactivity. Our results also show that when parents perceive a greater burden due to looking after a child with a rare disease, the result is a change in the usual parental role.

In our contribution, we offer a general outline of how parents build a role identity centred on caring for a child with a rare disease. We posit that this role identity is the outcome of the parents’ success or failure in gradually overcoming fear through love. We have conceptualized this process as navigating between love and fear.

SOURCE:  Int J Environ Res Public Health. 2021 Apr 2;18(7):3724. doi: 10.3390/ijerph18073724. PMID: 33918362

The Role of Parent/Caregiver with Children Affected by Rare Diseases: Navigating between Love and Fear

Beni Gómez-Zúñiga  1 , Rafael Pulido  2 , Modesta Pousada  1 , Manuel Armayones  3

1. Faculty of Psychology and Educational Sciences, Universitat Oberta de Catalunya, 08018 Barcelona, Spain.

2. Education Department, Universidad de Almería, 04120 Almería, Spain.

3. eHealth Center, Universitat Oberta de Catalunya, 08018 Barcelona, Spain.

Read entire article

SOURCE:  https://medicalxpress.com/news/2021-05-key-parents-children-rare-diseases.html

Trust is key for the parents of children with rare diseases to live without anxiety

by Beatriz González, Universitat Oberta de Catalunya

May 27, 2021

Well-being, mobility, diagnosis and treatments covered

Chair of the HSP Support Group in the UK, Adam Lawrence, shares the results of the 8^th annual survey.

The survey attracted over 300 responses with 16 (5%) from Australia. The main findings include:

• Scores on a recognised scale of mental well-being are significantly lower than in previous years, possibly due to the effects of the global pandemic
• Unsurprisingly therefore, “information on improving mental health/well-being” is the number one ranking Well-being topic by a huge margin
• Mobility analysis shows much the same pattern as previous years and notably that scores on well-being are not related to severity of mobility impairment/type of mobility aids required
• By far and away the number one need identified in the Living with HSP category is “stretches and exercises that help”
• Getting an explanation of HSP on diagnosis ranks number one amongst topics on Diagnosis and Inheritance
• “Treatment options for spasticity” is also a clear first in the Treatments category
• Information about HSP topics show fairly equal interest in three areas – disease progression, burden of symptoms and understanding what affected genes do
• Of the 5 categories of survey questions – Living with HSP, Treatments, Well-being, Diagnosis & Inheritance and Information about HSP – Living with HSP ranks a clear first in importance with survey respondents, with Treatments ranking a solid second
• 74% of survey respondents consider that they understand HSP at least well
• 40% feel that their medical professionals understand their HSP at least well, with 32% saying that medical professionals somewhat understand and 28% saying they don’t understand at all
• When asked what a cure for HSP would look like:
  • For 29% it is stopping symptom progression
  • 45% say it is reversing symptoms, and
  • 23% say it is preventing the next generation getting HSP.

Read the full report

Source: https://hspjourney.blogspot.com/2021/02/2020-survey-results.html

Adam Lawrence, 28 February 2021

600 surveyed for their experience

A multinational online survey of over 600 people with spasticity found that Botox injections improved their lives.

People surveyed also say that a longer acting Botox would be well received.

This backs up the results of a 2020 study of the added effectiveness combining Botox and physio treatment.

Survey questions included the burden of spasticity on the ability to work, functioning, daily-living activities, and quality-of-life, the impact of BoNT A (Botox) therapy on patients’ lives, and the potential benefits of fewer injections.

It should be noted that Botox is not suitable for everyone with HSP, even if they have spasticity. Because weakness as well as spasticity occurs with HSP, the decision as to whether or not Botox is appropriate needs to be made on a case-by-case basis in consultation with medical professionals.

Abstract

Background: Patient- and caregiver-reported data are lacking on the burden of spasticity, and the impact of botulinum neurotoxin type A (BoNT-A) treatment for this condition, on patients’ daily lives. As recommended in recent guidance from the US Food and Drug Administration, online patient communities can represent a platform from which to gather specific information outside of a clinical trial setting on the burden of conditions experienced by patients and caregivers and their views on treatment options in order to inform evidence-based medicine and drug development.

Objective: The objective of our study is to characterize spasticity symptoms and their associated burdens on Western European and US patients and caregivers in the realms of work, daily activities, quality of life (QoL) as well as the positive and negative impacts of treatment with BoNT-A (cost, time, QoL) using Carenity, an international online community for people with chronic health conditions.

Methods: We performed a non-interventional, multinational survey. Eligible participants were 18 years old or older and had, or had cared for, someone with spasticity who had been treated with BoNT-A for at least 1 year. Patients and caregivers were asked to complete an internet-based survey via Carenity; caregivers reported their own answers and answered on behalf of their patients. Questions included the burden of spasticity on the ability to work, functioning, daily-living activities, and QoL, the impact of BoNT A therapy on patients’ lives, and the potential benefits of fewer injections.

Results: There were 615 respondents (427 patients and 188 caregivers). The mean age of patients and caregivers was 41.7 years and 38.6 years, respectively, and the most commonly reported cause of spasticity was multiple sclerosis. Caregivers were most often the parents (76/188, 40%) or another family member (51/188, 27%) of their patients. Spasticity had a clear impact on patients’ and caregivers’ lives, including the ability to work and injection costs. For patients, spasticity caused difficulties with activities of daily living and reduced QoL indices. The median number of BoNT-A injections was 4 times per year, and 92% (393/427) of patients reported that treatment improved their overall satisfaction with life. Regarding the BoNT-A injection burden, the greatest patient-reported challenges were the cost and availability of timely appointments. Overall, 86% (368/427) of patients believed that a reduced injection frequency would be beneficial. Caregivers answering for their patients gave largely similar responses to those reported by patients.

Conclusions: Spasticity has a negative impact on both patients’ and caregivers’ lives. All respondents reported that BoNT A treatment improved their lives, despite the associated challenges. Patients believed that reducing the frequency of BoNT-A injections could alleviate practical issues associated with treatment, implying that a longer-acting BoNT-A injection would be well received.

SOURCE:  JMIR Public Health Surveill. 2020 Dec 7;6(4):e17928. doi: 10.2196/17928. PMID: 33284124 ©Atul T Patel, Theodore Wein, Laxman B Bahroo, Ophélie Wilczynski, Carl D Rios, Manuel Murie-Fernández. Originally published in JMIR Public Health and Surveillance (http://publichealth.jmir.org), 07.12.2020.

Perspective of an International Online Patient and Caregiver Community on the Burden of Spasticity and Impact of Botulinum Neurotoxin Therapy: Survey Study

Atul T Patel ^# 1, Theodore Wein ^# 2, Laxman B Bahroo ^# 3, Ophélie Wilczynski ^# 4, Carl D Rios ^# 5, Manuel Murie-Fernández ^# 6

1  Kansas City Bone & Joint Clinic, Overland Park, KS, United States.

2  Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.

3  Department of Neurology, Georgetown University, Georgetown, DC, United States.

4  Carenity, Paris, France.

5  Ipsen Pharma, Boulogne-Billancourt, France.

6  Neurorehabilitation Unit, Ciudad de Telde Hospital, Las Palmas, Spain.

#  Contributed equally.