Speech treatment for people with hereditary ataxia – a feasibility study

Hereditary ataxias are frequently associated with ataxic dysarthria. The characteristics of ataxic dysarthria include imprecise articulation, distorted vowels, hypophonia, reduced speech rate, flat prosody and poor respiratory support. These changes lead to reduced speech intelligibility and a reduced effectiveness of communication which can affect quality of life. Communication breakdown has been ranked amongst the top three most upsetting symptoms of their disease by people with Friedreich’s Ataxia in a recent survey by Ataxia UK. Whilst we have significantly increased our understanding of the nature of the communication problems experienced by speakers with ataxic dysarthria, there are very few intervention studies and a recent Cochrane review concluded that “there is insufficient and low or very low quality evidence from either RCTs or observational studies to determine the effectiveness of any treatment for speech disorder in any of the hereditary ataxia syndromes.” (Vogel et al. 2014, p.1). Based on the speech symptoms prevalent across the various types of hereditary ataxia, one treatment approach that has potential to increase communication efficiency is Lee Silverman Voice Treatment (LSVT). This treatment approach focuses on increasing the level of loudness in a person’s speech. The method has been shown to positively affect the wider articulatory system, such as improving breath support for speech, slowing down rate, and improving voice quality and articulation, whilst at the same being simple enough for the patient to implement in everyday communication. There are many reports , including RCTs (Baumgartner et al. 2001, Ramig et al. 2018), showing the benefits of LSVT for people with Parkinson’s Disease (PD), as well as smaller studies on other disorders such as cerebral palsy (e.g. Boliek & Fox, 2014), traumatic brain injury and stroke (Wenke et al. 2008, Mahler & Ramig 2012). In addition, a single case study on a patient with ataxic dysarthria as a result of a thiamine deficiency demonstrated improvement in overall speech intelligibility following a course of LSVT (Sapir et al., 2003), highlighting its potential as a treatment for speakers with hereditary ataxias. However, further evidence about its effectiveness across a larger number of participants and a wider range of underlying neuropathologies is necessary before LSVT can be advocated as an appropriate treatment for people with ataxic dysarthria. We report on a feasibility study that aimed to investigate the effectiveness of LSVT to improve communication efficiency, and the acceptability of the approach to people with hereditary ataxia. We recruited 20 participants with hereditary ataxia and dysarthria (17 FRDA, one SPG7, one SCA6 and one unspecified cerebellar ataxia). 19 of these concluded treatment and all assessment points. Dysarthria severity levels ranged from mild to severe. Participants were offered extended LSVT on a 2 session a week basis over 8 weeks via Skype. Assessments included 2 baseline tests, as well as immediate and 6-8 week post treatment follow-ups, also conducted via Skype. Analysis included a range of speech measures, as well as qualitative assessments of voice handicap, communication participation, and fatigue, captured by rating scales as well as interviews. The interview data indicate that 16 of the 19 participants perceived considerable improvements to their communication following LSVT intervention, whilst three reported only minor improvements or no change. Prominent themes emerging from the interviews include the ability to produce longer utterances and speak for longer periods of time, decreased hypophonia, reduced anxiety and greater confidence. A further twelve participants also reported improvements in intelligibility, clearer speech and/or a reduced need to repeat themselves. The formal rating scales corroborate these qualitative results to some degree with the majority of participants showing improved scores after treatment, although this did not reach statistical significance due to variable group performance. Perceptual evaluations of intelligibility and naturalness of a reading sample showed similar results, with some participants showing improved scores after treatment, but not to the extent expressed in the qualitative evaluation. Acoustic voice analysis demonstrated statistically significant performance improvements following treatment, with increases in prolonged vowel length and reduced voice perturbation (jitter and shimmer) values. These effects were maintained 8 weeks post-treatment. Our study provides clear support for offering speech treatment such as LSVT for people with degenerative ataxia to improve their communication and psychosocial wellbeing. This finding is corroborated by a recent pilot study into intensive home-based treatment involving seven speakers with autosomal recessive spastic ataxia Charlevoix-Saguenay (ARSACS) by Vogel et al. (2019), which identified improvements in intelligibility and naturalness post-treatment

Management of the ataxias : towards best clinical practice

This document aims to provide recommendations for healthcare professionals on the diagnosis and management of people with progressive ataxia. The progressive ataxias are rare neurological conditions, and are often poorly understood by healthcare professionals. Diagnosis has generally been a long process because of the rarity and complexity of the different ataxias1. In addition, many healthcare professionals are unsure how best to manage the conditions and there is sometimes a feeling that little can be done for these patients1,2 Although there are no disease-modifying treatments for the majority of the progressive ataxias, there are many aspects of the conditions that are treatable and it is thus important that this is recognised by the relevant healthcare professionals. The diagnosis and management of the few treatable causes is also of paramount importance. All this highlights the importance of producing these guidelines: in order to increase awareness and understanding of these conditions, and lead to their improved diagnosis and management. With new developments in genetic technologies and the discovery of more genes, diagnosis is improving and has great scope to continue to do so. In addition, research is advancing and many human trials to test medications are taking place, making us more optimistic that disease-modifying treatments will be found for the progressive ataxias

Symptom burden of people with progressive ataxia, and its wider impact on their friends and relatives : a cross-sectional study

Background: Progressive ataxias are complex disorders that result in a wide variety of symptoms. Whilst we currently have a relatively good understanding of the symptom patterns associated with the various types of ataxia, and how these diseases progress over time, their impact on the person with ataxia is less well understood. In addition, little is known about how carers, friends and families are affected by them. This paper aims to provide preliminary information on the presence and impact of medical symptoms and day-to-day challenges on people with ataxia and their friends and relatives. Method: Data were extracted from a survey by Ataxia UK for their members. The views of 366 people with ataxia and 52 friends and relatives are reported. Data were analysed for the entire groups, as well as for the three most common ataxia types represented in the sample, Friedreich's ataxia, inherited ataxia (excluding Friedreich's ataxia), and cerebellar ataxia of unknown cause. Results: The survey confirmed the symptom patterns described in previous research, but further showed that the impact of these symptoms can vary across ataxia populations. Similar findings were observed for day-to-day challenges. Friends and relatives experienced similar challenges to people with ataxia, indicating that support provided has to consider those supporting people with ataxia as well as the patient. Respondents also highlighted limitations in terms of accessing support services, and not all services were able to cater fully to their specific needs. Conclusion: This study begins to provide information that can be used in further research to explore the needs of people with ataxia and their carers, friends, and relatives. Such research will support treatment trial design, ensuring patients' needs are considered, help to tailor support services to their needs, and ensure health care professionals have the necessary skills to fully address them

ClearSpeechTogether : a rater blinded, single, controlled feasibility study of speech intervention for speakers with progressive ataxia

Background: Progressive ataxias frequently lead to speech disorders and consequently impact on communication participation and psychosocial wellbeing. Whilst recent studies demonstrate the potential for improvements in these areas, these treatments generally require intensive input which can reduce acceptability of the approach. A new model of care – ClearSpeechTogether – is proposed which maximises treatment intensity whilst minimising demands on clinician. This study aimed to establish feasibility and accessibility of this approach and at the same time determine the potential benefits and adverse effects on people with progressive ataxias. Method: The study targeted people with progressive ataxia and mild-moderate speech and gross motor impairment. ClearSpeechTogether consisted of four individual sessions over two weeks followed by 20 patient-led group sessions over four weeks. All sessions were provided online. Quantitative and qualitative data were collected for evaluation. Results: Nine participants completed treatment. Feasibility and acceptability were high and no adverse effects were reported. Statistical tests found significantly reduced vocal strain, improved intelligibility for reading, and increased participation and confidence. Participant interviews highlighted the value of group support, from psychosocial perspectives and in supporting speech strategy internalisation and generalisation. Discussion: ClearSpeechTogether presented an effective intervention in a small group of people with progressive ataxia. It matched or exceeded the outcomes previously reported for intensive, individual therapy while minimising clinician time demands. Furthermore, its unique peer led group intervention design appeared effective in addressing intractable psychosocial issues. ClearSpeechTogether is potentially cost-effective, providing intensive delivery with few clinician sessions, thus maximising the input available from health care providers