Please note, this case study is based on a theoretical patient; information about the patient was provided to students in order that they could devise a case report.
Mrs B – Case History and Assessment
Mrs B (B) previously presented with relapsing-remitting Multiple Sclerosis (MS); she had relapses 15 and 10 years ago. Her partial recovery from the second relapse, and gradual deterioration and plateaus since then, suggest she is now in the secondary-progressive stage. Yorkston, Miller & Strand (2004), found this to be the case in around 50% of relapsing-remitting MS patients 10 years post-diagnosis. It is therefore likely that her communication, mobility and visual difficulties will continue to deteriorate, indicating management must cater for current and future needs (Yorkston & Beukelman, 2000).
B presents with mixed spastic-ataxic dysarthria. This is supported by a diagnosis of nystagmus; a common occurrence in ataxia due to cerebellar damage (Duffy, 2005). A lower facial weakness may be present; potentially due to unilateral upper motor neurone (UUMN) damage, as can be found in spastic dysarthria (Duffy, 2005). UUMN damage causes weakness and reduction of fine movements; the predominant features of her spasticity. Severity is moderate/mild due to her variable speed, mildy limited oral-motor control and articulatory errors (Enderby, 2007).
B has mild respiratory dysfunction, as is found in more than 50% of MS patients (Murdoch, Theodoros & Ward, 2000). B inhales at syntactically appropriate points during connected speech, and does not appear to inhale more regularly than would be expected. Loudness decay is sometimes evident (e.g. “tighten up the muscle perhaps”). Yorkston & Beukelman (2000) found this to be a perceptual feature of inadequate respiratory support. This is also a feature of ataxic dysarthria due to cerebellar lesions causing respiratory incoordination (Duffy, 2005).
Murdoch et al. (2000) cite Darley, Aaronson & Brown, who found decreased loudness control to be accompanied by reduced vital capacity in 35% of their MS subjects; this is in line with respiratory features of spastic and ataxic dysarthria (Duffy, 2005). These difficulties could be due to weakened respiratory muscles (Murdoch et al., 2000), reflecting UUMN lesions, as can be found in spastic dysarthria (Duffy, 2005). Due to inconsistency, ataxia is the more likely cause.
B’s voice exhibits a mildly harsh quality; this could be a sign of hyperfunctional laryngeal movement; often found in spastic dysarthria. Spasticity may result in hyperadduction of the true and false vocal folds (Duffy, 2005). Her mild respiratory impairment may be exacerbating this.
Regular production of glottal creak is also evident (e.g. “I just keel over”; when listing days of the week); this reflects the variability of phonatory features that may be present in those with MS; due to the widespread locations of neurological damage (Murdoch et al., 2000). Till & Alp (1991) (cited by Weismer, 1997) stated a multitude of movement disorders affecting the larynx may underlie individual symptoms. Weakness and reduced coordination of laryngeal structures as a result of spasticity may account for this perceptual feature (Duffy, 2005).
Darley, Aaronson & Brown (1975) found 25% of patients with MS exhibited hypernasality (cited by Murdoch et al., 2000). Minimal hypernasality is heard in B’s speech, for example, “magnifying” - /mæŋɪfaɪŋ/. Due to the low occurrence of this perceptual feature, and more recent findings that velopharyngeal dysfunction is rare in MS populations (Murdoch & Theodoros, 2000), B’s hypernasality may be the result of ataxia causing a reduction in the speed and coordination of velopharyngeal closure; this word alternates from nasal to non-nasal sounds rapidly.
Variability in B’s speech causes decreased naturalness (Duffy, 2005). At points, B uses scanning speech (e.g. “but now I’ve got nystagmus”), in which each syllable is spoken with equal stress and length. This inflexibility is more apparent during reading than conversation. Her rate is sometimes increased due to telescoping speech; an inconsistent merging of syllable strings (e.g. when talking about shadows), this can be a feature of ataxic dysarthria (Duffy, 2005).
B’s occasionally halting prosody could be a reflection of efforts to control spasticity; the pyramidal system controls skilled movement, so damage could cause a reduced ability to control the tongue and lips, making speech effortful with slower syllable production (Murdoch et al., 2000).
B’s most apparent difficulty is imprecise articulation, which significantly impacts on her intelligibility; however her communication appears functional in conversation with the SLT, particularly when fatigue is minimal. Dykstra et al. (2007) cite Yorkston et al. who found a measure of comprehensibility; the level of speech intelligibility when contextual cues and signal-independent information are accounted for, a better estimate of functional communication ability than an action/impairment measure of intelligibility.
Consonant place is mainly effected, however vowel distortions are also apparent, e.g. ‘shadows’ - /shʌɡəz/. This is in line with a diagnosis of ataxia; cerebellar damage can cause reduced coordination and muscle tone, thus effecting articulatory speed and precision (Duffy, 2005). Spasticity causing a reduction in skilled, voluntary movement may also reduce articulatory precision (Duffy, 2005).
B’s tongue is likely to have reduced strength, rate and stamina, which may explain the slurred quality to her speech. Rice et al. (cited by Murdoch et al., 2000) found those with MS were unable to maximally exert muscle forces, resulting in weakness. This weakness could also be due to a reduction in maximum motor neurone firing rates caused by demyelination in MS, and the possibility that MS affects motor pathways to the tongue more significantly than to the lips or jaw (Murdoch et al., 2000).
Irregular articulation breakdown refers to in-coordination of repetitive movements (Duffy, 2005) and is a prominent feature of B’s speech. Cluster reductions e.g. /’ɪksæmɪ’neɪʃʌn/ - /əzæm’neɪʃʌn/ and omissions /ə’nɒnəmʌs/ - /ə’nɒnəs/, are heard. Telescoping speech is apparent, especially during longer utterances. Articulatory imprecision increases over time, suggesting fatigue may exacerbate this difficulty, this is confirmed by B; “you can hear my talking getting more and more difficult”.
Language and Cognition
Typically, language is not directly affected in MS, however Yorkston, Klasner & Swanson (2001) found cognitive changes could impact on language in terms of word-finding and verbal organisation. Foong et al. (1998) found cognitive changes to be especially likely as the disease is entering the progressive phase (cited by Yorkston et al., 2004). B reports mild memory problems and word-finding difficulties; Reischies et al. found a reduction in social activities and increased psychopathology in those with cognitive impairment (cited by Yorkston et al., 2004), meaning these difficulties could impact upon B’s social and emotional wellbeing. These difficulties do not cause communication break-down in the speech sample, however the SLT should assess this further if B feels an increased impact of these difficulties as her MS progresses.
The length and intensity of therapy will be determined by B’s level of fatigue; her speech deteriorates over the course of the video, suggesting sessions should be short. B’s management will alter over the course of the disease in line with its progression, following continued assessment by the SLT (Duffy, 2005). RCSLT clinical guidelines (2005) place importance on involving the client in goal negotiation, therefore B’s input will be essential when goal setting. This will ensure management is tailored to her priorities, and will increase motivation (James, McIntosh, Charles, Lyons & Leach, 2011). Long term goals must take current needs and potential future difficulties into account (Yorkston & Beukelman, 2000). Due to B now being in the secondary progressive phase of her MS, a functional component will form an important part of her management (Yorkston & Beukleman, 2000), rather than working only on speech subsystems that may further deteriorate (Duffy, 2005). This will aim to reduce the impact her dysarthria has on her ability to communicate.
An increased incidence of depression is found in those with MS (Yorkston et al., 2004). Karatepe, Kaya, Gunaydin, Demirhan & Gediziloglu (2011) found depression to have the biggest impact on quality of life (QOL) in MS patients. Mohr & Cox (2001) cite Devins et al. who suggest a correlation between perceived intrusion of a disorder on activities of daily living (ADL) and depression. B found the offer of a place at a disabled daycentre upsetting, suggesting low acceptance of her disability. She also states that when she sees friends, she cannot say much as her speech deteriorates over time. B is also unable to work. Pakenham (cited by Mohr & Cox, 2001) found depression to be associated with a reduction of social roles. It will be useful to find out more about the impact the MS is having, by asking her to judge the severity of her speech disorder, and gaining information on how it is impacting ADL’s (Yorkston et al., 2004). The SLT should monitor Mrs B in sessions to determine if depression may be an issue; if this is the case, referral to clinical psychology should be made.
Observation of B in conversation with her sister and husband will provide important information on her level of participation, and highlight strategies that may assist conversation. RCSLT (2005) identified observation of communication between patients with dysarthria and their conversation partners as an important way of identifying and building on current strategies, and reducing communication barriers. Management decisions should also be influenced by analysis of conversation between dysarthric patients and their communication partners (Comrie, Mackenzie & McCall, 2001).
Although B is currently intelligible with context, as her MS progresses, she may need to make use of AAC. Early intervention will allow the SLT to discover what her communication needs are, and identify relevant vocabulary (Theodoros & Ward, 2000). If introduced too late, B may be unable to acquire the new skills necessary to use the device due to further neurological damage (Theodoros & Ward, 2000). AAC should be broached carefully with B; her acceptance is potentially low, and she may find the thought of AAC distressing, so careful education about the course of MS should precede this conversation if B consents. Her visual and mobility difficulties should be accounted for when making this decision.
Sustained phonation will provide additional information on respiratory control, vocal stability and loudness regulation. Diadochokinetic rates will provide further information on how ataxia may be influencing the rate and regularity of B’s speech (Yorkston et al., 2004).
Long Term Aims
1. To educate and support B and significant others
B will need information on her dysarthria type, normal respiratory function and how the SLT will be involved in her management. Education on the progression of MS and how this could affect her speech will be provided if that is her wish. Significant others will benefit from an increased knowledge of B’s communication difficulties, in order to understand and prioritise the use of communication strategies. Charitable societies can be referred to for information and support; Simmons-Mackie (2008) claim that support systems should be supplied to increase quality of life (QOL).
2. To provide communication strategies to B and her conversation partners to increase participation
B will benefit from being encouraged to use all means possible to convey her message. Currently, she is comprehensible, however providing a list of strategies in large print, for use now, such as focussing on slow and clear speech, and later on, such as an alphabet board, will increase her ability to manage further decline and aim to reduce the ongoing impact of her dysarthria on communication. Yorkston et al. (2004) cites Kraft (1998), who stated that therapy strategies should be provided which foresee the condition worsening. Her word-finding difficulties may be reduced by encouraging circumlocution, and encouraging communication partners to prioritise efficiency over accuracy (Duffy, 2005), such as providing the right word for B if needed.
The World Health Organisation (WHO, 2001) state that function and well-being are better improved when internal and external barriers are tackled. Dykstra, Hakel & Adams (2007) explain the significant influence the social and physical environment can have on the participation of those with reduced intelligibility. Environmental modifications, such as modifying noise levels, immediacy and number of speakers and lighting will be made, as these can contribute to level of intelligibility. The SLT will aim to increase B’s comprehensibility and, in conjunction with B and her communication partners, decide upon useful and relevant repair strategies. Yorkston, Strand & Kennedy (1996) found working with communication partners essential for generalisation of strategies.
It should be noted that B is currently still seeing her friends; however her dysarthria and fatigue are causing a reduction in participation. Dykstra et al. (2007) found maintenance of friendships which facilitate participation an important factor in maintaining an inclusive social environment; therefore keeping her current social circle is a priority. Her friends should be provided with strategies to increase their ability to communicate with B. B could be offered information on volunteering opportunities; these may be less intimidating than the disabled day-centre (Dykstra et al., 2007), and provide further opportunities to participate in conversation and generalise skills learnt in therapy. This is consistent with WHO (2001); outcomes should have a focus on societal aspects of health by incorporating patients’ involvement in important social roles (Simmons-Mackie & Damico, 2001).
3. To improve B’s respiratory support
Techniques to increase breath support should be employed. Good posture is the foundation for good breathing (Greene & Mathieson, 2006); B should be advised on the best posture for speech. If, as the course of her MS progresses, postural support becomes a more prominent need, referral to physiotherapy should be made – joint sessions may increase the generalisation of postural and communication strategies into other tasks. Initially, some instruction on diaphragmatic breathing may be useful to increase breath support and control of exhalation, which should in turn improve her vocal control (Theodoros & Ward, 2000). Breath patterning exercises, to establish how often Mrs B should breathe during speech will help her avoid speaking on residual air (Theodoros & Ward, 2000).
4. To reduce B’s speaking rate
B’s intelligibility and naturalness are significantly decreased by her articulatory and prosodic difficulties. Whilst some scanning speech was heard, this was mainly during reading activities, and has less impact than articulatory breakdown on her functionaol communication skills. Yorkston & Beukelman (2000) found speech intelligibility was improved through rate reduction. This strategy may be useful as the disease progresses; Yorkston et al. (2004) highlight the importance of rate control when an exacerbation increases a patients’ ataxia. This could be achieved with techniques which also target other areas of need, such as respiratory patterning, (Duffy, 2005) and over-exaggeration of speech movements to allow muscles with reduced strength time to articulate – thus reducing rate whilst increasing clarity (Yorkston et al., 2004).
Due to the degenerative nature of MS, outcome measurement is challenging, as generally the dysarthria will not improve (Yorkston & Beukelman, 2000). A functional measurement of communicative abilities and level of participation would be more relevant as B is now in the secondary progressive stage (Hinchliffe, Murdoch & Theodoros, 2000).
Observations made during assessment should be recorded using video; this can form a baseline of communication skills and repair strategies, their effectiveness, and B’s level of participation. This can then be compared to a recording taken after the therapy block to analyse if changes have occurred and how these were achieved, whilst highlighting additional new strategies.
In line with aiming to reduce the impact of MS, it is important to assess if B’s perception of her disability has changed, and measure if there has been an increase in her functional ability to manage in communicative events (WHO, 2001). A questionnaire detailing her abilities to communicate in different situations should be undertaken before and after the therapy block, such as the ‘Communicative Effectiveness Survey’ (Huckstad, Beukleman & Yorkston, 1998).
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Introduction Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disorder due to mutations in the senataxin gene resulting in progressive cerebellar ataxia, peripheral neuropathy and occasional oculomotor apraxia.1 Approximately 96% of the patents have raised serum alpha fetoprotein (AFP) levels.1 We present a patient presenting with ataxia and choreoathetosis, secondary to AOA2, whose serum AFP level was at the upper limit of normal range.
Case presentation A 17 year old college student, born of non–consanguineous parents, presented with a 5 year history of gradual onset, progressive impairment of co–ordination. He also reported gradual decline in his academic performance. There was no history of seizures, visual, bulbar or sphincter disturbances. He was a non–smoker and had no history of alcohol or drug abuse. Past medical and family history was unremarkable. Clinical examination demonstrated mild bradyphrenia and a subtle ataxic dysarthria. Cranial nerves were normal. Limb tone and power were unremarkable. Reflexes were normal in the upper limbs but knee jerks were reduced and ankle jerks were absent bilaterally. Plantars were downgoing. There was mild blunting of pinprick distally over the legs. His gait was mildly ataxic, more pronounced with tandem walking. Choreoathetoid movements were noted in his hands. The following investigations were either normal or negative: haematological, biochemical and copper studies, lipid profile, serum electrophoresis, creatine kinase, autoimmune screen, white cell enzymes, mitochondrial studies, vitamin E levels, acanthocytes, ataxia telangiectasia (A–T) and spino–cerebellar ataxia mutations. Genetic study for Friedreich's ataxia was negative. AFP level was 10 (normal range <10 kU/l). Electroneuromyography showed evidence of generalised axonal motor and sensory neuropathy. Magnetic resonance imaging of the brain revealed mild cerebellar atrophy. Further review at 6 months demonstrated evidence of mild oculomotor apraxia. Molecular genetic testing revealed compound heterozygous mutations in the senataxin (SETX) gene, resulting in loss of senataxin protein, confirming the diagnosis of AOA2.
Conclusion Oculomotor apraxia, although included in the acronym, is not obligatory for diagnosis of AOA2. A range of movement disorders including tremor, chorea and dystonia may be present in approximately 14% of the patients.1 AFP level may occasionally be in the upper range of normal and may increase with time. AFP is an important biomarker for recessive ataxias and should be included in the investigation of recessive cerebellar ataxias or adolescent movement disorders of unknown aetiology.