Topic 3.6. Dysphagia in Friedreich ataxia

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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

3.6.1 The effects of Friedreich ataxia on swallowing function
3.6.2 Functional consequences of dysphagia
3.6.3 Management of dysphagia

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.

3.6 Dysphagia in Friedreich ataxia

Adam P. Vogel, Lisa Graf, Maggie-Lee Huckabee and Matthis Synofzik

This chapter describes the effects of Friedreich ataxia on swallowing, the functional consequences of swallowing impairment (dysphagia), and strategies for managing dysphagia. In making recommendations for management, the authors were tasked with answering the question:

For individuals with Friedreich ataxia, what management strategies could be implemented for dysphagia?

3.6.1 The effects of Friedreich ataxia on swallowing function

Dysphagia (swallowing impairment) impacts all individuals with Friedreich ataxia (FRDA) at some stage during the disease (1). It worsens over time (2) and is linked to disease severity (3). Dysphagia in FRDA is characterized by slow oral and pharyngeal transit, poor bolus control, and delayed initiation of swallowing (1, 2). Specifically, FRDA can lead to decreased strength and coordination of the musculature used during swallowing. These changes often result in timing-based deficits, leading to increased risk of penetration and aspiration of food or liquids. Upper limb ataxia and difficulty controlling cutlery and cups while eating and drinking also impact mealtime safety.

At mid to later stages of FRDA, coughing or choking while drinking or during mealtimes and difficulty managing secretions become more common. Approximately 25% of people with FRDA are thought to aspirate silently on thin liquids (1), highlighting the need for detailed monitoring of mealtime safety.

3.6.2 Functional consequences of dysphagia

In some cases, dysphagia increases the likelihood of hospitalization for preventable conditions, such as pneumonia, delirium, urinary tract infections, and dehydration (4), and in most cases, it reduces quality of life (5). Changes to swallowing-related quality of life include extended mealtime duration (potentially intensified by upper limb ataxia and the challenges associated with feeding independently); altered self-perception (linked to changing roles within family and social groups); as well as reduced participation in social events and gatherings (1).

3.6.3 Management of dysphagia

Dysphagia management needs to consider impairment, function and swallowing-related quality of life (6). An important first step in management is comprehensive identification of how the dysphagia affects the individual with respect to impairment, activity and participation:

  • ● Impairment can be tested via imaging methods such as videofluoroscopy (VFSS) or fiberoptic endoscopic evaluation of swallowing (FEES). These tools can provide data on the characteristics of deficits as well as the presence of aspiration and penetration during swallowing.
  • ● Activity can be measured by administering purposely designed clinical bedside examinations (CBE) such as the Clinical Assessment of Dysphagia in Neurodegeneration (CADN) (3). CBEs like CADN yield data on the day-to-day sequelae of the impairments, such as trialing liquids and varying food textures and consistencies and anamnesis (case history).
  • ● Participation can be measured via standardized patient-reported outcomes or questionnaires that provide data on the impact of dysphagia on quality of life (7).


Four types of dysphagia management are potentially available for people with FRDA. These include behavioral swallowing intervention/swallowing rehabilitation, such as exercises; neuromuscular electrical stimulation; compensatory strategies, such as postural techniques and education on mealtime behaviors; and diet modification, including thickened fluids. There is currently no empirically documented population specific evidence on the benefit of swallowing therapy for individuals with FRDA. Evidence for the suggested therapies is based on diseases and disorders similar, but wholly distinct from FRDA. The presence of dysphagia in most individuals with FRDA highlights the need for effective and proven therapies for improving swallowing.

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Please note: Recommendations 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. Best Practice Statements are commonly accepted practices, as such formal rating of the quality of evidence by the GRADE process is not indicated. In addition if recommendations from the 2014 guidelines were deemed still relevant, although unable to undergo the scrutiny from a GRADE framework, they were also included as best practice statements.
Behavioral swallowing intervention

QUESTION: Should behavioral swallowing intervention/swallow rehabilitation versus no intervention be used for all people 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 people with Friedreich ataxia, the guidelines panel suggests that behavioral therapies are not used as a treatment for dysphagia.

JUSTIFICATION: There are no trials or published evidence supporting the use of behavioral therapies to improve swallow function in Friedreich ataxia.

SUBGROUP CONSIDERATION: This recommendation is for individuals with Friedreich ataxia with swallowing problems.
Evidence to Recommendation Table PDF

Compensatory strategies

QUESTION: Should compensatory strategies (postural techniques, mealtime behaviors) versus no compensatory strategies be used for all people 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 people with Friedreich ataxia, the guidelines panel suggests employing some compensatory strategies for improving swallowing safety in people with dysphagia.

JUSTIFICATION: There is some limited evidence supporting the use of compensatory strategies for improving dysphagia outcomes in neurological conditions other than Friedreich ataxia. This management approach is low impact and not likely to lead to any adverse effects.

SUBGROUP CONSIDERATION: This recommendation is for all individuals with Friedreich ataxia, to improve swallowing safety.

Evidence to Recommendation Table PDF
Modified diet/thickened fluids

QUESTION: Should modified diet and thickened fluids versus no diet/fluid modification be used for all people 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 people with Friedreich ataxia, we cannot recommend either modified diets/thickened fluids or no diet modification to improve swallow safety.

JUSTIFICATION: There are no data supporting the use of modified diet in Friedreich Ataxia.

SUBGROUP CONSIDERATION: This recommendation is considered appropriate for people with Friedreich ataxia with moderate to severe dysphagia.

Evidence to Recommendation Table PDF
Neuromuscular electrical stimulation

QUESTION: Should neuromuscular electrical stimulation versus no swallowing intervention be used for all people 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 people with Friedreich ataxia, the guidelines panel suggests neuromuscular electrical stimulation is not used as a treatment for dysphagia.

JUSTIFICATION: There are no trials or published evidence supporting the use of neuromuscular electrical stimulation to improve swallow function in Friedreich ataxia.

SUBGROUP CONSIDERATION: This recommendation is for individuals with Friedreich ataxia with dysphagia.

Evidence to Recommendation Table PDF
Please note: Recommendations 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. Best Practice Statements are commonly accepted practices, as such formal rating of the quality of evidence by the GRADE process is not indicated. In addition if recommendations from the 2014 guidelines were deemed still relevant, although unable to undergo the scrutiny from a GRADE framework, they were also included as best practice statements.
Individuals with Friedreich ataxia who are experiencing difficulties in swallowing should be offered detailed expert counselling on dysphagia management strategies, with a focus on the specificities and mechanisms of dysphagia in degenerative ataxia, as well as their impact on the individual and their friends and families.

Lay summary of clinical recommendations for dysphagia in Friedreich ataxia


Swallowing difficulties (dysphagia) happen in almost all people with Friedreich ataxia and can worsen over time. Aspiration (food, liquid and/or saliva entering the lungs) is a problem with dysphagia, but is difficult to predict and warrants regular monitoring of swallowing function. Aspiration can lead to frequent coughing when eating or drinking. However, aspiration can also happen without coughing, which increases the risk of chest infection. Dysphagia can also lead to longer mealtimes and other changes to the quality of life of a person with Friedreich ataxia.

Why these recommendations?
Possible management strategies for dysphagia include:
● compensatory approaches, like controlled flow drinking containers or changing the way a person sits during mealtimes
● diet modification, such as avoiding foods known to cause coughing or using thickened fluids
● behavioral interventions designed to help swallowing, and
● neuromuscular electrical stimulation.

There are no randomized controlled trials or other high-quality research studies supporting any management strategies for dysphagia in Friedreich ataxia. The strategies used currently are based on studies in people with other neurological conditions as well as clinical experience.

There is some limited evidence to support the use of compensatory approaches to help swallowing problems in people with Friedreich ataxia. Although benefits of modified diets have not yet been shown, they are unlikely to be harmful. At this time, behavioral techniques or neuromuscular electrical stimulation are not recommended as treatments for dysphagia.

What does this mean for you as a person living with Friedreich ataxia or caring for someone living with Friedreich ataxia?
It is important for all people with Friedreich ataxia to discuss their swallowing with a healthcare professional. There are some strategies to help compensate for swallowing for people with Friedreich ataxia that may help to minimize dysfunction and optimize swallowing safely.

Who are these recommendations specifically for?
These recommendations are for all individuals with Friedreich ataxia with minor to severe swallowing difficulties.

Lisa Graf, MSc
University Hospital of Tübingen, Tübingen, Germany

Maggie-Lee Huckabee, PhD
Distinguished Professor, University of Canterbury, Christchurch, Canterbury, NZ
Email: maggie-lee.huckabee@canterbury.ac.nz

Matthis Synofzik, MD
Professor, Hertie-Institute for Clinical Brain Research & Center for Neurology, Tübingen, Germany
Email: matthis.synofzik@uni-tuebingen.de

Adam P. Vogel, PhD
Professorial Fellow, The University of Melbourne, Melbourne, Victoria, Australia
Email: vogela@unimelb.edu.au

1. Keage MJ, Delatycki MB, Gupta I, Corben LA, Vogel AP. Dysphagia in Friedreich ataxia. Dysphagia. 2017;32(5):626-35.

2. Keage M, Delatycki MB, Dyer J, Corben LA, Vogel AP. Changes detected in swallowing function in Friedreich ataxia over 12 months. Neuromuscul Disord. 2019;29(10):786-93.

3. Vogel AP, Rommel N, Sauer C, Horger M, Krumm P, Himmelbach M, et al. Clinical assessment of dysphagia in neurodegeneration (CADN): development, validity and reliability of a bedside tool for dysphagia assessment. J Neurol. 2017;264(6):1107-17.

4. Takizawa C, Gemmell E, Kenworthy J, Speyer R. A systematic review of the prevalence of oropharyngeal dysphagia in stroke, Parkinson’s disease, Alzheimer’s disease, head injury, and pneumonia. Dysphagia. 2016;31(3):434-41.

5. Rönnefarth M, Hanisch N, Brandt AU, Mahler A, Endres M, Paul F, et al. Dysphagia affecting quality of life in cerebellar ataxia – a large survey. Cerebellum. 2020;19(3):437-45.

6. Vogel AP, Brown SE, Folker JE, Corben LA, Delatycki MB. Dysphagia and swallowing-related quality of life in Friedreich ataxia. J Neurol. 2014;261(2):392-9.

7. Keage M, Delatycki M, Corben L, Vogel A. A systematic review of self-reported swallowing assessments in progressive neurological disorders. Dysphagia. 2015;30(1):27-46.

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.