Medical Guidelines Allied Health Professional Interventions Speech and language therapy The progressive ataxias may affect communication and/or swallowing function. The most obvious communication difficulty encountered is that of dysarthria which is a motor speech disorder resulting in altered voice quality, speech clarity, naturalness and intelligibility. Communication may also be affected in cases where there is an associated cognitive impairment impacting on language processing. In addition, any difficulties with executive functions may result in changes in communication behaviour. Difficulty in swallowing is a common symptom of ataxia, particularly as the disease advances. Depending on the pathophysiology of the disease, swallow dysfunction (dysphagia) may occur at the oral, pharyngeal and/or oesophageal stage of swallowing. For example, when there is cerebellar involvement, dysphagia may be characterised by reduced coordination of the oro-pharyngeal muscles involved in swallowing food and drink. Communication problems Read more General Assessment SLTs undertake a comprehensive assessment of each patient’s communication in the context of their life roles and wishes. Assessment may include perceptual and objective measures of motor speech function and cognitive linguistic functions. General guidance on speech assessment can be accessed through textbooks on motor speech disorders, as well as the clinical guidelines published by the Royal College of Speech and Language Therapists (www.rcslt.org). Cognitive linguistic problems can be screened through verbal fluency tasks. It is also highly important to consider the impact of communication difficulties on the individual’s participation in activities of daily living and life roles. Obtaining the views of the family and/or carers where appropriate is also recommended. Management may be targeted at the level of impairment, activity limitation or participation restriction, or any combination of these, based on the ICF framework180. A wide range of impact and quality of life assessments that have been developed for other patient groups, are also suitable for people with ataxia. I. Speech problems (dysarthria) Overview Dysarthria is a common symptom of the progressive ataxias. The main features vary, and may include any, or a combination of articulatory imprecision, excess and equal stress, harsh and/or tremulous voice quality, and slowed speech rate181–183. Ataxic dysarthria appears to be related to a disturbance in the neural mechanisms that underlie the coordination, temporal regulation, and quasi-automatic control of respiratory, phonatory, and articulatory movements for speech184. Some researchers view ataxic dysarthria as reflecting a global impairment of the respiratory, laryngeal, and articulatory subsystems of speech, although individual variations may be seen in the relative severity of these impairments according to the type of ataxia and disease duration185,186. Deterioration in dysarthria in the spinocerebellar ataxias (SCAs) tends to be slow (eg in one study deterioration was observed over a period of three years.)181 Furthermore, patients with early disease onset (before age 24) are reported to have more deterioration in voice quality as compared to patients with late disease onset (after age 43).181 In addition to ataxic dysarthria, patients may also present with features of spastic, bulbar or flaccid dysarthria reflecting a more diffuse pathophysiology. Features of spastic dysarthria have been noted in studies, including perceptions of a strained-strangled voice quality as part of the presentation181,187. It should be noted that the occurrence of symptoms other than those associated with an ataxia is variable, both across individuals as well as disease progression188. Changes in communication behaviour can occur at any point, and research into a range of neurological speech disorders suggest that patients’ perceptions of their speech impairment is not necessarily related to its severity as assessed by the SLT. Reports of patients feeling embarrassed about speaking, having difficulty talking on the telephone and having reduced confidence in communication leading to social isolation are commonly encountered in clinical practice189. Assessment There are no specific assessment procedures for ataxic dysarthria, instead, clinicians need to establish a comprehensive picture of motor speech control and function through a range of structured and unstructured tasks (oromotor performance, single word assessment, connected speech assessment). Segmental as well as suprasegmental aspects of speech need to be considered, and particular attention should be paid to performance variations across speech tasks associated with different cognitive and motor demands as patients can show significant differences in severity and nature of impairment across such tasks. Management A recent Cochrane review of treatment of ataxic dysarthria found no controlled behavioural treatment studies specific to ataxic dysarthria. A number of pharmaceutical studies performed showed little effect on speech performance190. In the absence of evidence based guidance on the most effective treatment, the clinician will need to devise individualised treatment programmes based on the findings of a comprehensive assessment. A programme may target the presenting speech impairment, as well as issues relating to the patient’s activity and/or participation180. Previous studies of therapy for ataxic dysarthria have shown only modest improvements in speech intelligibility when targeting individual speech parameters, such as respiratory support, speech rate, stress placement and clarity of articulation in isolation182,191. A study reported short and long-term improvement in phonatory and articulatory functions, speech intelligibility, and overall communication and job related activity following an intensive course of Lee Silverman Voice Treatment (LSVT) in a single case study of cerebellar dysarthria resulting from thiamine deficiency184. In addition, positive outcomes were reported for a combination of LSVT and gradually increasing utterance length and complexity in a case of ataxic dysarthria following brain injury from boxing192. The LSVT programme focuses on training patients to maximise their phonatory efficiency and increase articulatory effort by speaking loud193. In the absence of properly controlled evidence that LSVT is suitable for administration to degenerative ataxias, care should be taken that no adverse effects are introduced through its application. As alternatives to LSVT, the patient can be advised of strategies to improve intelligibility, including over-articulation (clear speech), production of shorter phrases and more frequent breath top-ups. Management may also involve assisting patients to develop increased self-monitoring of their speech quality and identification of helpful speech strategies. When speech intelligibility levels fall below 50% or when reduced intelligibility has a significant impact on functional communication, alternative and augmentative means of communication (AAC) should be considered194. The SLT should discuss AAC options with each individual, their communication partners, and the multidisciplinary team. The individual’s language skills, cognitive functioning, motor and perceptual skills, and communication environment are all taken into consideration. AAC can take the form of simple systems such as pen and paper or use of an alphabet chart to supplement speech. Some patients may benefit from a high technology aid such as a Lightwriter with a choice of written and/or voice output. Switch activated communication aid systems should be trialled in cases where there is severe upper-limb and truncal ataxia which cannot be adequately alleviated by appropriate seating and set up. SLTs are frequently involved in sourcing funding for AAC equipment for individual patients. II. Cognitive problems Overview There is emerging research to suggest that patients with ataxia are at risk of cognitive impairment which, in turn, may impact on communication. There is a more detailed description of cognitive impairment and ataxia in the medical interventions section of these guidelines (see section Cognition). Altered communication associated with executive dysfunction includes difficulty in organising and planning verbal messages resulting in disrupted narrative sequences, also difficulty in generating ideas, judging and weighing options and forming inferences on information heard and read. The need for clinical prudence in being on the alert for cognitive disturbances when assessing, treating, and rehabilitating patients with cerebellar disease has been reported195. Speech and language therapists (SLTs) should therefore be looking for any signs of cognitive difficulties in patients with progressive ataxia that might impact on communication. Management Speech and language therapy management of cognitive communication difficulties will encompass education about the underlying impairments impacting on communication. The SLT will identify strategies to manage communication breakdown with the individual and their key communication partners. These strategies are practised within a supportive, therapeutic environment. Strategies include verbal and visual prompts which can be used by the individual or the communication partner in conversations to assist with topic management and turn-taking196,197. If an individual presents with word finding difficulties, general strategies as reported in the aphasia literature can be helpful. III. Hearing problems Overview Hearing problems are a known symptom of the progressive ataxias and can significantly impact on communication. Hearing problems including assessment, management and services available are described in more detail of these guidelines in the medical interventions section (see section Audiology & hearing). Management Management of the hearing difficulties associated with people with ataxia is challenging. The provision of conventional hearing aids (which are designed to make sounds louder, rather than make signals clearer), tend not to be useful. Provision of communication training including the use of listening strategies and lipreading may be helpful in optimising understanding as well as increasing awareness of the importance of quiet listening conditions. Radio-frequency FM listening devices have been reported to improve signal to noise ratio in some patients (see section Audiology & hearing). SLTs are best placed to advise patients on communication strategies. Additional support is available from hearing therapists attached to audiology departments or sense teams in the community. Swallowing problems (dysphagia) Read more Dysphagia in the progressive ataxias is often gradual and insidious in its onset. Studies indicate the cerebellum’s role in controlling the speed of oral muscle movements, and clinical experience is that the oral phase of the swallow is frequently affected198. Abnormal pharyngeal and oesophageal function were identified in a small group of patients with hereditary sensory ataxia199. Symptoms of dysphagia are listed in Table 12 and include difficulties controlling food or drink in the mouth, chewing, dribbling, coughing or choking on food or drink. Swallowing difficulties may be exacerbated when there are co-existing postural or hand-to-mouth coordination difficulties. Patients with dysphagia are at risk of malnutrition, dehydration, and recurrent chest infections198. Co-occurring cognitive impairment may place patients at additional risk due to their reduced ability to self-monitor and maintain a safe approach to eating and drinking, including compliance with recommended textures and safe swallowing strategies. Dysphagia can have a significant impact on quality of life, with patients reporting taking extra time for meals, embarrassment associated with eating and drinking leading to avoidance of social gatherings, and fear of choking200. Assessment The SLT will take a case history from the patient and/or family/carers. A comprehensive case history includes identification of signs and symptoms of dysphagia; current eating and drinking behaviour including individual dietary preferences; nutritional status and food supplementation. Given the progressive nature of dysphagia associated with ataxias, there may be under-reporting of swallowing difficulties as patients adopt compensatory approaches to their oral intake, including avoidance of particular food or liquid types. Rigorous questioning and a thorough examination for all signs and symptoms of dysphagia are therefore recommended (see Table 12 for signs and symptoms of dysphagia). SLTs conduct a full clinical examination of swallowing function comprising oral motor and sensory examination and observation of the patient during oral intake. An instrumental examination of swallowing is indicated when information gained from clinical examination is not sufficient to guide management of the presenting dysphagia. Instrumental examinations include videofluoroscopy (radiographic procedure) and/or a fibreoptic endoscopic evaluation of swallowing (FEES). Table 12: Signs and symptoms of dysphagia Signs of dysphagia Symptoms of dysphagia Recurrent chest infections Weight loss Dehydration Poor oral hygiene Observed coughing or choking during oral intake Dribbling Difficulty chewing food Food pocketing in the mouth or sticking in the throat Coughing Choking during oral intake Nasal regurgitation Avoiding specific food or liquid consistencies Anxiety associated with oral intake Taking long time to complete meals Avoidance of social eating Treatment Following comprehensive assessment, the SLT advises on management of the dysphagia. Dysphagia management is best conducted within a multidisciplinary team (MDT). The SLT works closely with the dietician, to ensure optimal nutrition and hydration via the oral and/or alternative route, as well as the physiotherapist/occupational therapist, to ensure optimal feeding/positioning and use of aids or adaptations to deliver food to mouth. There is growing clinical interest in the use of oral muscle strengthening exercises for swallowing in degenerative conditions although the evidence base is not well established. Strengthening exercises should specifically target underlying swallowing pathophysiology e.g. the use of the Shaker exercise to target reduced anterior hyoid tilt. Examples of management techniques are listed in Table 13. Table 13: Dysphagia management techniques Dysphagia management techniques Modification of consistency of food or drink Introduction of safe swallow strategies including use of a chin tuck position, double swallow, throat clear Advice regarding sitting posture and set up for oral intake Introduction of carer-initiated prompts to maintain safety eg: slow rate, small sips, avoiding talking with food or drink in mouth Advice on oral hygiene care Management of severe dysphagia should include consideration of alternative feeding routes when the oral route is no longer a viable option for maintaining adequate nutrition and hydration. Alternative feeding options, for example, percutaneous endoscopic gastrostomy tube (PEG) feeding should be discussed with the individual, their family and the MDT. The use of assistive devices developed for swallowing problems in the stroke population is currently not advisable due to lack of evidence for their effectiveness. Speech and language therapy service Read more It is clinically accepted that patients benefit from being seen at any stage during the disease progression and when they are experiencing specific difficulties with either their communication and/or swallowing. Provision of relevant and timely information is integral to the patient developing an understanding of their disease and supports the ‘expert patient role’, empowering patients to take responsibility for managing their condition effectively201. It is recommended that an open referral system should be in place where patients are able to access help from a SLT as and when required. Due to the nature of the progressive ataxias, speech and language therapy input needs to change over time in line with patient need. The newly diagnosed patient and their families may benefit from information regarding help that is available in the future should they require this, and symptoms to be aware of that would warrant assessment and advice from a SLT. When symptoms become more disabling, the SLT will take an active role in providing appropriate exercises or strategies to optimise communication and/or swallow function. Later in the disease, the SLT may be involved in advising on augmentative communication systems and/or alternative routes for nutrition and hydration. Recommendations Grade 1. If patients experience specific difficulties with either their communication and/or swallowing a referral to an SLT is recommended. An open referral system should be in place where patients are able to access help from a SLT as and when required. GPP 2. It is important that SLTs undertake a comprehensive assessment of each patient’s communication, which takes into consideration the impact of communication difficulties on the individual’s activities of daily living and life roles. GPP 3. Speech and language therapists should be vigilant for any signs of cognitive and/or hearing difficulties in patients with ataxia that might impact on communication and the management strategy should be modified accordingly. GPP 4. In the absence of evidence based guidance on the most effective treatment, the speech and language therapist will need to devise individualised treatment programmes for dysarthria based on the findings of a comprehensive assessment. GPP 5. When speech intelligibility levels fall below 50% or when reduced intelligibility has a significant impact on functional communication, alternative and augmentative means of communication should be considered. D 6. A comprehensive case history should be taken by the SLT including the identification of signs and symptoms of dysphagia and detailed current eating and drinking behaviour and individual dietary preferences. GPP 7. An instrumental examination of swallowing is indicated when information gained from clinical examination is not sufficient to guide management of the presenting dysphagia. GPP 8. A multidisciplinary approach is recommended to dysphagia management between the SLT and dietician, to ensure optimal nutrition and hydration, as well between the SLT and the physiotherapist/occupational therapist to ensure optimal feeding position and use of aids or adaptations (see table 13). GPP 9. Muscle strengthening exercises can be indicated and if so they should specifically target underlying swallowing pathophysiology. GPP This information is taken from Management of the ataxias - towards best clinical practice third edition, July 2016. This document aims to provide recommendations for healthcare professionals on the diagnosis and management of people with progressive ataxia. To view the full document, including references, click here.