Topic 3.5. Dysarthria 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

3.5.1 Effects of Friedreich ataxia on speech and communication
3.5.2 Functional consequences of dysarthria
3.5.3 Management of dysarthria

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.


3.5 Dysarthria in Friedreich ataxia

Adam P. Vogel, Anja Lowit and Ellika T. Schalling

This chapter describes the effects of Friedreich ataxia on speech, the functional consequences of speech impairment (dysarthria), and strategies for managing dysarthria. 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 dysarthria?

3.5.1 Effects of Friedreich ataxia on speech and communication

Dysarthria is the core speech disorder in Friedreich ataxia (FRDA) (1, 2). Speech related physiological impairments in FRDA include poor breath support, incoordination of articulators, and slower movement. They lead to reduced intelligibility and naturalness of speech (deviation from healthy norm). Degraded intelligibility can make it difficult to communicate in day-to-day tasks, which is exacerbated when talking on the phone or in noisy environments. As well as motor deficits associated with speech, individuals with FRDA often present with cognitive inflexibility (3) that may lead to difficulties generating ideas, planning and organizing messages, and making inferences from spoken/written information due to the inability to process verbal information at speed (4). Auditory processing deficits are also described in FRDA related to hearing and processing speech and sound in complex noise environments (5). Two other functional domains can potentially impact on communication or access to alternative/augmentative forms of communication (AAC; e.g., unaided systems like gesture or aided systems such as speech generating devices): oculomotor and upper limb performance. Most individuals with FRDA retain adequate visual acuity (6, 7); however, this can change with disease progression. In contrast, many develop ocular motor fixation deficits (8). These deficits, coupled with the loss of upper limb dexterity (9) and dysarthria itself, complicate the use of traditional AAC technologies that rely on speech to text or mouse use on digital devices.

3.5.2 Functional consequences of dysarthria

Dysarthria manifests in slower speech, poor vocal control, hypernasality (10), dysphonia (11), and imprecise consonants (12) in the speaker. Dysarthria is debilitating and can render the speaker unintelligible (13). Speech is affected in almost all people with ataxia. Communication deficits can trigger altered self-identity (14) and impede or prevent both social and professional interactions (15). This leads to daily disadvantage and social marginalization through limitations in accomplishing tasks with associated emotional consequences (16, 17) and underemployment (15).

3.5.3 Management of dysarthria

There are three potential management strategies designed to improve speech function in Friedreich ataxia: behavioral therapy; alternative and augmentative communication (AAC); and pharmacological treatment.

Behavioral management is based on traditional models of speech therapy that focus on improving the underlying physiologic support for speech (e.g., improving trunk stability and breath support); modifying speech through compensatory speaking strategies (e.g., segmenting phrases and controlling rate to improve articulatory accuracy); improving clarity and naturalness of speech by practicing appropriate targets; improving self-monitoring; and managing the communication environment (e.g., reducing background noise levels when speaking, conversation partner training). Advice and guidance on improving speech is typically delivered by a therapist or via technology and is delivered intensively in the clinic or home. Intervention may be delivered individually or in a group format.

AAC is designed to provide capacity for individuals to use technology, devices or alternative forms of communication (such as eye gaze, writing) to replace or supplement spoken communication. It is often beneficial to work jointly with colleagues from the multi-disciplinary team, such as physiotherapists for trunk stability and occupational therapists for fine motor control and accessing augmentative communication devices.

Pharmaceutical treatments are commonly designed to halt or reverse disease progression or alleviate the symptoms of disease. However, there are currently no known drugs that specifically target amelioration of speech disorder (18).

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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.
Intensive behavioral interventions

QUESTION: Should intensive behavioral speech intervention versus no treatment 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 suggest the use of targeted intensive behavioral therapy for improving speech in individuals with dysarthria.

JUSTIFICATION: There is some limited evidence supporting the use of behavioral therapies for improving speech in Friedreich ataxia. Three small non-randomized trials show some preliminary evidence that some aspects of speech can improve in hereditary ataxias following intensive therapy (19-21). These therapies include methods for improving self-monitoring, biofeedback and diverse tasks designed to improve specific aspects of speech like breath support, vocal control and intelligibility. The studies suggest that some gains in intelligibility or voice quality can be achieved with intensive treatment. However, the data are derived from non-controlled, underpowered pilot studies.

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

Evidence to Recommendation Table PDF
Augmentative and alternative communication

QUESTION: Should augmentative and alternative communication (AAC) versus no AAC 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: We cannot recommend either the use or non-use of AAC to treat dysarthria in individuals with Friedreich ataxia.

JUSTIFICATION: There are no trials or published evidence supporting the use of AAC in Friedreich ataxia.

SUBGROUP CONSIDERATION: This recommendation is for individuals with Friedreich ataxia with dysarthria. AAC may be best suited to individuals who have severe dysarthria and are not receptive to behavioral or pharmacological interventions.

Evidence to Recommendation Table PDF
Pharmacological interventions

QUESTION: Should pharmaceutical intervention versus no pharmaceutical 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, we suggest that pharmaceutical therapies are not used to treat dysarthria.

JUSTIFICATION: Very few published studies have used speech as an outcome measure in pharmaceutical trials for Friedreich ataxia. There is very low evidence supporting the use of any pharmaceutical therapies to improve dysarthria in Friedreich ataxia. One open label trial showed minor changes in acoustic outcomes related to timing in the high dose group (versus low dose group) (22). These findings were not verified against listener-based judgements.

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

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.
In the absence of strong evidence supporting widespread adoption of treatment for speech problems, interventions to improve the communication skills of listeners (i.e. communication partners of speakers with ataxia) could be incorporated into care plans. These include focused attention during conversations, communicating in quiet environments, and identification of strategies to ameliorate communication breakdowns, with practice of the strategies in a supportive environment.

Lay summary of clinical recommendations for dysarthria in Friedreich ataxia


Individuals with Friedreich ataxia often develop problems with their speech (dysarthria). There are some potential treatments for speech problems, but as yet there is not enough research to show the benefits of some of these possible treatments.

Behavioural treatment is currently the primary management option available to individuals with Friedreich ataxia who have problems with their speech. There is some evidence suggesting that intensive drill-based therapy (regular and frequent therapy) delivered for at least three weeks may be effective in improving some aspects of speech, including intelligibility (how well a person can be understood by a listener) and voice quality.

Why these recommendations?
Augmentative and alternative communication (AAC) is the use of technology (such as speech to text), devices (often needing the use of a mouse) or alternative forms of communication (such as eye gaze, writing) to replace or help spoken communication. There are currently studies investigating the use of AAC for improving communication in Friedreich Ataxia, but there is not yet enough evidence showing benefit to people with Friedreich ataxia who have problems with their speech to recommend its use.

There are no studies showing that any medication can help to improve speech in Friedreich ataxia.

Behavioural treatments for dysarthria are supported by some preliminary studies suggesting they can help to improve speech in individuals with Friedreich ataxia. Behavioural therapy is typically safe and is very unlikely to lead to any harm to the individual.

What does this mean for you as a person living with Friedreich ataxia or caring for someone living with Friedreich ataxia
For individuals with dysarthria it is important to have the type and severity of your speech problems assessed, and to discuss options for intensive behavioural therapies with your doctor or other health professional. These therapies are focussed on improving intelligibility and naturalness of speech.

Who are these recommendations specifically for?
These recommendations are for Individuals with Friedreich ataxia with changes to their speech.

Anja Lowit, PhD
Professor, Strathclyde University, Glasgow, UK
Email: a.lowit@strath.ac.uk

Ellika T. Schalling, PhD, SLP
Professor, Uppsala University, Uppsala, Sweden
Email: ellika.schalling@neuro.uu.se

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

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18. Vogel AP, Folker J, Poole ML. Treatment for speech disorder in Friedreich ataxia and other hereditary ataxia syndromes. Cochrane Database Syst Rev. 2014(10):CD008953.

19. Lowit A, Egan A, Hadjivassiliou M. Feasibility and acceptability of Lee Silverman voice treatment in progressive ataxias. Cerebellum. 2020;19(5):701-14.

20. Vogel A, Rommel N, Synofzik M. Intensive speech rehabilitation in degenerative ataxias improves intelligibility (Abstract). Mov Disord. 2018;33(Suppl 2):S281.

21. Vogel AP, Stoll LH, Oettinger A, Rommel N, Kraus EM, Timmann D, et al. Speech treatment improves dysarthria in multisystemic ataxia: a rater-blinded, controlled pilot-study in ARSACS. J Neurol. 2019;266(5):1260-6.

22. Yiu EM, Tai G, Peverill RE, Lee KJ, Croft KD, Mori TA, et al. An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levels. J Neurol. 2015;262(5):1344-53.

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.