Topic 16.1. The impact of Friedreich ataxia on independent living
This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.
Topic Contents
16.1 The impact of Friedreich ataxia on independent living
Disclaimer / Intended Use / Funding
Disclaimer
The Clinical Management Guidelines for Friedreich ataxia (‘Guidelines’) are protected by copyright owned by the authors who contributed to their development or said authors’ assignees.
These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.
Guidelines users must seek out the most recent information that might supersede the diagnostic and treatment recommendations contained within these Guidelines and consider local variations in clinical settings, funding and resources that may impact on the implementation of the recommendations set out in these Guidelines.
The authors of these Guidelines disclaim all liability for the accuracy or completeness of the Guidelines, and disclaim all warranties, express or implied to their incorrect use.
Intended Use
These Guidelines are made available as general information only and do not constitute medical advice. These Guidelines are intended to assist qualified healthcare professionals make informed treatment decisions about the care of individuals with Friedreich ataxia. They are not intended as a sole source of guidance in managing issues related to Friedreich ataxia. Rather, they are designed to assist clinicians by providing an evidence-based framework for decision-making.
These Guidelines are not intended to replace clinical judgment and other approaches to diagnosing and managing problems associated with Friedreich ataxia which may be appropriate in specific circumstances. Ultimately, healthcare professionals must make their own treatment decisions on a case-by-case basis, after consultation with their patients, using their clinical judgment, knowledge and expertise.
Guidelines users must not edit or modify the Guidelines in any way – including removing any branding, acknowledgement, authorship or copyright notice.
Funding
The authors of this document gratefully acknowledge the support of the Friedreich Ataxia Research Alliance (FARA). The views and opinions expressed in the Guidelines are solely those of the authors and do not necessarily reflect the official policy or position of FARA.
16.1 The impact of Friedreich ataxia on independent living
Ellen W. Goh, Manuela Corti, Kathrin Reetz, Sub H. Subramony and Louise Corben
Like most progressive neurological conditions, the relentless nature of Friedreich ataxia (FRDA) can have a profound impact on the capacity to participate in daily activities, be they personal, social, vocational or community focused. The overwhelming impact on independence for people with FRDA is the associated motor impairment. In particular, people with FRDA have difficulty with multi‐joint movements (dysynergia), coordinating the spatial and temporal components of movement, terminal accuracy of movement (dysmetria), terminal accuracy of movement amplitude (tremor), maintaining consistent and appropriate force, truncal balance, muscle tone imbalance, muscle weakness and fatigue. Successful completion of most activities of personal (bathing, grooming, dressing, feeding and toileting oneself), domestic (meal preparation, household tasks) and community (driving, using public transport, shopping) activities involve multi‐joint movement, balance, muscle strength, endurance, intact sensation and adequate temporal and spatial control of movement. As the disease progresses, the limitations in everyday life become greater and with them the need for support.
Communication impairments are another common feature of FRDA that have an impact on independence. Dysarthria as a result of impaired co-ordination and weakness of muscles used to produce speech can affect a person’s ability to engage with carers and family and participate socially and in the work environment. A further impact of FRDA can be in relation to other medical co-morbidities which require specialist treatment and monitoring, particularly those related to the heart (cardiomyopathy), endocrine system (diabetes), spasticity/spasm and fatigue.
The use of digital and assistive technologies can be considered for people with FRDA to compensate for motor, communication and sensory deficits, for better management of personal, domestic, community and workplace activities, and for monitoring other medical co-morbidities. Some emerging digital and assistive technologies aim to enable remediation of deficits or encourage participation in activities to maintain function and to avoid further complications. The overarching aim of digital and assistive technologies for people with FRDA is to optimize their independence and participation in all daily activities.
Assistive technology for mobility
QUESTION: Should customized assistive technology for mobility (e.g., modified vehicles, wheelchair, transfer devices, walkers, adaptive seating and positioning) versus non-use be used for individuals with impaired independent gait/mobility with Friedreich ataxia?
[sg_popup id=”587″ event=”click”]
[/sg_popup]STRENGTH OF RECOMMENDATION: ↑
[sg_popup id=”658″ event=”click”][/sg_popup]LEVEL OF EVIDENCE: ⨁◯◯◯
RECOMMENDATION: For individuals with Friedreich ataxia with impaired independent gait/mobility, we suggest the use of customized assistive technology for mobility (e.g., modified vehicle, wheelchair, transfer devices, walkers, and adaptive seating and positioning) to enhance independence in mobility, quality of life, and social and occupational participation, and to reduce falls.
JUSTIFICATION: Despite the low level of evidence in like conditions, expert clinicians who provide clinical care for individuals with Friedreich ataxia agree that the use of customized assistive technology for mobility can benefit independence in mobility, quality of life, and social and occupational participation, and reduce falls.
SUBGROUP CONSIDERATION: This recommendation is specifically for individuals with Friedreich ataxia with impaired independent gait/mobility. The guideline expert panel considers that all individuals with Friedreich ataxia might benefit from the use of digital and assistive technology.
Evidence to Recommendation Table PDFPersonal care and environmental control
QUESTION: Should customized assistive technology (personal care technology, environmental control [iPAD, home APPs, smart watches], ALEXA/ SIRI) versus non-use be used for individuals with impaired upper limb functionality with Friedreich ataxia?
[sg_popup id=”587″ event=”click”][/sg_popup]STRENGTH OF RECOMMENDATION: ↑
[sg_popup id=”658″ event=”click”][/sg_popup]LEVEL OF EVIDENCE: ⨁◯◯◯
RECOMMENDATION: For individuals with Friedreich ataxia with impaired upper limb functionality, we suggest the use of customized assistive technology for personal care and environmental control (e.g., iPad, home apps, smart watches, Alexa/Siri) to enhance independence in daily activities, quality of life, and social and occupational participation.
JUSTIFICATION: Despite the low level of evidence in only one like condition, expert clinicians who provide clinical care for individuals with Friedreich ataxia agree that customized assistive technology for personal care can benefit independence in daily activities, quality of life, and social and occupational participation in individuals with Friedreich ataxia.
SUBGROUP CONSIDERATION: This recommendation is specifically for individuals with Friedreich ataxia with impaired upper limb functionality. The guideline expert panel considers that all individuals with Friedreich ataxia might benefit from the use of digital and assistive technology.
Evidence to Recommendation Table PDFHealth monitoring
QUESTION: Should health monitoring/alert devices (e.g., monitoring heart rate, steps, sleep, ECG, activity, healthy eating, medication, glucose for diabetes) versus non-use be used for individuals with fatigue, fall risk, poor sleep, diabetes, etc, with Friedreich ataxia?
[sg_popup id=”587″ event=”click”][/sg_popup]STRENGTH OF RECOMMENDATION: ↑
[sg_popup id=”658″ event=”click”][/sg_popup]LEVEL OF EVIDENCE: ⨁◯◯◯
RECOMMENDATION: For individuals with Friedreich ataxia and fatigue, a risk of falls, poor sleep, diabetes and/or cardiomyopathy, we suggest the use of health monitoring/alert devices (e.g., monitoring heart rate, steps, sleep, ECG, activity, healthy eating, medication, glucose for Friedreich ataxia-related diabetes) to enhance independence in daily activities and quality of life and improve medication control.
JUSTIFICATION: Despite the low level of evidence, expert clinicians who provide clinical care for individuals with Friedreich ataxia agree that customized assistive technology for health monitoring can benefit independence in daily activities, quality of life, number of hospitalizations, sleep, diabetes and medication control in individuals with Friedreich ataxia.
SUBGROUP CONSIDERATION: This recommendation is particularly relevant to individuals with Friedreich ataxia who report fatigue or poor sleep, are at risk of falls, and/or have diabetes or cardiomyopathy.
Evidence to Recommendation Table PDFCommunication and workplace assistance
QUESTION: Should customized assistive technology for communication and to expand workplace opportunities (e.g., writing, speech, computer use, tablets, workplace design [adaptive seating and positioning], vision and hearing) versus non-use be used for individuals with impaired communicating ability and workplace difficulties with Friedreich ataxia?
[sg_popup id=”587″ event=”click”][/sg_popup]STRENGTH OF RECOMMENDATION: ↑
[sg_popup id=”658″ event=”click”][/sg_popup]LEVEL OF EVIDENCE: ⨁◯◯◯
RECOMMENDATION: For individuals with Friedreich ataxia with impaired communication and workplace difficulties, we suggest the use of customized assistive technology for communication and the workplace (e.g., writing, speech, computer use, tablets, workplace design [adaptive seating and positioning], vision and hearing) to enhance independence in communication, improve quality of life and increase occupational participation.
JUSTIFICATION: Despite the low level of evidence in like conditions, expert clinicians who provide clinical care for individuals with Friedreich ataxia agree that customized assistive technology for communication can benefit independence in communication, quality of life and occupational participation in individuals with Friedreich ataxia, particularly in the later stage of the disease.
SUBGROUP CONSIDERATION: The provision of customized assistive technology is particularly relevant to individuals with advanced Friedreich ataxia who may have concurrent issues related to upper limb ataxia, visual difficulties and eye movement problems.
Evidence to Recommendation Table PDFCompensatory or remedial interventions with digital and assistive technology may improve independence for individuals with Friedreich ataxia.
Prescription of a manual or powered wheelchair or scooter should be preceded by an assessment of the home/school/work and community environment the equipment will be used in.
A comprehensive prescription of a manual or powered wheelchair or scooter should be completed by a qualified clinician familiar with the specific issues related to Friedreich ataxia.
A validated assessment and evaluation tool for wheelchair and seating prescription may be used to guide the process of prescription and evaluation.
In prescribing a manual wheelchair and seating system, functional capacity should not be impeded for the sake of an anatomically correct seated posture.
Appropriate training should be provided for the safe use of a wheelchair or scooter in the home or community environment.
Suitability of the seating and wheelchair system should be evaluated on an annual basis in adults and biannually in children.
Lay summary of clinical recommendation for digital and assistive technologies in Friedreich ataxia
Why these recommendations?
These recommendations are about the use of digital and assistive technologies such as modified wheelchairs, adaptive seating, environmental controls, apps and smart watches. These technologies may help individuals with Friedreich ataxia with work, leisure, social and daily activities that involve communication, mobility and upper limb function. They may also be useful for individuals for whom it is important to maintain health and well-being, such as for management of diabetes or maintaining healthy eating.
Due to a lack of studies, there is little direct evidence showing the benefits of using digital and assistive technologies in individuals with Friedreich ataxia. However, the clinical experience of the authors and published research in other neurological conditions supports the consideration of using such technologies.
What does this mean for you as a person living with Friedreich ataxia or caring for someone living with Friedreich ataxia?
It might be important for you to talk to your allied health and medical clinicians to see if the use of digital and assistive technologies may be appropriate for you.
Who are these recommendations specifically for?
These recommendations are relevant to all individuals with Friedreich ataxia, particularly those who have lived with the condition for a long time and have many inter-related issues that may interfere with independence, such as speech, mobility and upper limb problems.
Louise Corben, PhD
Principal Research Fellow, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia
Email: louise.corben@mcri.edu.au
Manuela Corti, P.T., PhD
Assistant Professor, University of Florida, Gainesville, Florida, USA
Email: m.corti@peds.ufl.edu
Ellen W. Goh, BAppSc(OccTherapy)
Neurosciences Clinical Lead Occupational Therapist, Monash Health, Melbourne, Victoria, Australia
Email: ellen.goh@monashhealth.org
Kathrin Reetz, MD
Professor for Translational Neurodegeneration, Department of Neurology, RWTH Aachen University, Aachen, NRW, Germany
Email: kreetz@ukaachen.de
Sub H. Subramony, MD
Professor of Neurology and Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA
Email: s.subramony@neurology.ufl.edu
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These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.
This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.
It is our expectation that going forward individual topics can be updated in real-time in response to new evidence versus a re-evaluation and update of all topics simultaneously.