Introduction
The following exercise is a case study of a 35-year-old man (‘R’) who was studied by Day and Parnell (Reference Day and Parnell1987). R was diagnosed at 23 years of age with Wilson's disease. He has had a 10-year contact with speech-language pathology since his diagnosis. The case study is presented in five sections: primer on Wilson's disease; client history and presentation; speech intervention: part 1; speech intervention: part 2; and speech outcome.
Primer on Wilson's disease
Wilson's disease is an autosomal recessive disorder that affects copper metabolism, leading to toxic accumulation of copper in the liver, central nervous system and kidneys (Beinhardt et al., Reference Beinhardt, Leiss, Stättermayer, Graziadei, Zoller, Stauber, Maieron, Datz, Steindl-Munda, Hofer, Vogel, Trauner and Ferenci2014). The disorder is also known as ‘hepatolenticular degeneration’, a term which reflects damage to the liver (‘hepato’) and the lenticular nucleus of the basal ganglia (‘lenticular’) as a result of copper deposits. Wilson's disease is caused by mutations in the ATP7B gene (Lorincz, Reference Lorincz2010). The prevalence of the disorder is estimated to be 1:49,500 (Møller et al., Reference Mei and Morgan2011). Lai and Tseng (Reference Lai and Tseng2010) estimated the annual incidence rate to be 0.27 per 100,000. There is evidence of gender differences in Wilson's disease, with more men than women developing the neuropsychiatric form of the disorder, and more women than men developing the hepatic form (Litwin et al., Reference Litwin, Gromadzka and Członkowska2012). There is a good, long-term prognosis for those individuals with Wilson's disease who receive adequate care (Beinhardt et al., Reference Beinhardt, Leiss, Stättermayer, Graziadei, Zoller, Stauber, Maieron, Datz, Steindl-Munda, Hofer, Vogel, Trauner and Ferenci2014).
Neurological and psychiatric symptoms are a common feature of Wilson's disease. In a sample of 126 patients with the disease, Mihaylova et al. (Reference Mihaylova, Todorov, Jelev, Kotsev, Angelova, Kosseva, Georgiev, Ganeva, Cherninkova, Tankova, Savov and Tournev2012) reported neurological signs in 82 subjects. The most frequently observed signs were tremor and dysarthria. Rigidity, bradykinesia and pyramidal signs were found in over 25% of patients. Dystonia, chorea, athetosis, ballismus and epilepsy were rarely observed in these patients. Moores et al. (Reference Moores, Fox, Lang and Hirschfield2012) examined 48 adult patients with Wilson's disease, 21 of whom presented with neurological symptoms. Diagnostic magnetic resonance imaging revealed basal ganglia and brainstem abnormalities and atrophy in 64%, 64% and 36%, respectively. At follow-up, 50% exhibited basal ganglia lesions and 55% displayed atrophy. Individuals with Wilson's disease have an increased lifetime prevalence of psychiatric disorders, including major depressive disorders and bipolar disorders (Carta et al., Reference Carta, Sorbello, Moro, Bhat, Demelia, Serra, Mura, Sancassiani, Piga and Demelia2012).
There has been little systematic investigation of dysarthria in Wilson's disease. This is despite the fact that dysarthria is a common neurological symptom of the disorder. Machado et al. (Reference Machado, Chien, Deguti, Cançado, Azevedo, Scaff and Barbosa2006) reported dysarthria in 91% of a sample of 119 patients with Wilson's disease. An early study of 20 patients with Wilson's disease reported the presence of a mixed dysarthria, with prominent ataxic, spastic and hypokinetic features (Berry et al., Reference Berry, Darley, Aronson and Goldstein1974). The 10 most common speech production errors in these individuals were reduced stress, monopitch, monoloudness, imprecise consonants, slow rate, excess and equal stress, low pitch, irregular articulatory breakdown, hypernasality and inappropriate silences. Speakers with Wilson's disease exhibit an impaired speech rate and impaired control of speech rate (Pernon et al., Reference Pernon, Trocello, Vaissière, Cousin, Chevaillier, Rémy, Kidri-Osmani, Fougeron and Woimant2013). Dysarthria in Wilson's disease has been found to correlate with lesions of the putamen and caudate (Starosta-Rubinstein et al., Reference Starosta-Rubinstein, Young, Kluin, Hill, Aisen, Gabrielsen and Brewer1987).
Unit 7.1 Primer on Wilson's disease
(1) Wilson's disease is an autosomal recessive disorder. Using your knowledge of genetics, explain what is meant by the term ‘autosomal recessive disorder’.
(2) Individuals with Wilson's disease can exhibit bradykinesia. Which of the following statements best captures this neurological sign?
Bradykinesia describes rapid, erratic movement in Wilson's disease.
Bradykinesia describes slowness of movement in Wilson's disease.
Bradykinesia describes involuntary, writhing movement in Wilson's disease.
Bradykinesia describes an intention tremor in Wilson's disease.
Bradykinesia describes a postural tremor in Wilson's disease.
(3) Depending on the underlying neuropathology, some forms of acquired dysarthria are static in nature (they may change in their features but not in severity over time). Other forms of acquired dysarthria are progressive in nature (they worsen over time as the underlying disorder which causes them deteriorates). Still other forms of acquired dysarthria ameliorate over time (they display improvement as the underlying disorder which causes them improves). Is dysarthria in the well-managed client with Wilson's disease likely to remain static, deteriorate or improve over time?
(4) Damage to which of the following neuroanatomical areas and structures appears to be related to the presence of dysarthria in Wilson's disease?
Client history and presentation
In 1974, when R was aged 23 years, he began to experience dysarthria, drooling, dysphagia, decreased mental function and some dystonia. Subsequently, he went on to develop right foot drop, postural changes, clumsiness of the upper extremities and marked personality changes. These changes manifested as intermittent periods of depression. R was diagnosed as having Wilson's disease. His older sister had been diagnosed two years earlier with the disorder and had died shortly thereafter.
Following diagnosis, R was prescribed Penicillamine (an agent used for the mobilisation and elimination of copper) and was placed on a low-copper diet. However, R did not comply with either his drug or dietary regimen. Between 1974 and 1976, he contacted a number of specialists in psychiatry, internal medicine and speech-language pathology for assistance with his problems. These contacts were of limited duration with the exception of a period of psychiatric treatment for depression which lasted 18 months. R's speech deteriorated significantly during his psychiatric treatment. In April 1976, a psychiatrist remarked that ‘speech (had) deteriorated almost to the point of being completely nonunderstandable…a direct result of the neurological damage associated with the (Wilson's) disease’. The psychiatrist also expressed the view that ‘while (R's) speech might improve slightly, the chances of significant improvement (were) poor’. In the same year, R attempted suicide by means of a drug overdose. He was hospitalised in a mental health facility after a short period in an intensive care unit. His marriage failed during this time.
When R first attended the Columbia Speech and Hearing Clinic at the University of Missouri in 1976, he was already profoundly dysarthric. His speech was described as ‘unintelligible for the most part’. His speech was non-functional, and he relied on written messages and sign language for communication. However, these other modes of communication were also of limited effectiveness. R also presented with drooling and dysphagia, had a fixed, grimace-like expression, and had oral and facial rigidity. On account of his severe speech disorder, R had been unable to work for two years. Accordingly, he received full disability compensation under social security.
Unit 7.2 Client history and presentation
(1) State three features of R's history prior to diagnosis, which are consistent with the clinical profile of Wilson's disease.
(2) R displayed poor compliance with his drug and dietary regimen. Which feature of R's clinical presentation directly contributed to his poor compliance? Does this same feature have any implications for the management of this client in speech-language pathology?
(3) Do you think R is at risk of aspiration pneumonia? Provide support for your answer.
(4) Why do you think written messages and sign language, like speech, were of limited effectiveness for R?
Speech intervention: part 1
At the Columbia Speech and Hearing Clinic, R received intervention for his dysarthria during 22 of 28 consecutive semester sessions over a 10-year period. A range of therapeutic techniques were used to improve intelligibility. Progress was monitored through the use of intelligibility ratings performed by familiar and unfamiliar listeners. During the 10-year period of R's intervention, specific areas of emphasis and therapy procedures, and the length and complexity of target utterances were varied to meet R's changing needs and abilities. Medical supervision of R was maintained throughout this entire time. Even though certain drug and dietary controls were prescribed, R displayed poor compliance with them.
Between admission in 1976 and the winter semester in 1977, R's speech intelligibility in clinic increased significantly. Oral-motor exercises which were aimed at improving the flexibility and precision of the oral structures were attempted initially. However, these produced little gain and were consequently abandoned. There was also an early emphasis on increased vocal volume and differentiation of vowel productions. However, this also made little contribution to the improvement of intelligibility. The focus of therapy then turned for several years to the production of single consonants and consonant blends and clusters. The production of multisyllabic words and word-final consonants was particularly difficult for R and made a large contribution to his reduced intelligibility. R was encouraged to engage in self-monitoring of his productions and, with the assistance of the therapist, to achieve consistency in his standards of judgement. His reliance on gestural communication, which was largely confusing and unsuccessful, was discouraged. Throughout this time, R refused to consider the use of an augmentative or alternative communication system.
Unit 7.3 Speech intervention: part 1
(1) R's progress in therapy was monitored through the use of intelligibility ratings by familiar and unfamiliar listeners. Under which of the following conditions is R's speech likely to be rated as most intelligible?
A familiar listener rates R's production of an unseen list of words.
An unfamiliar listener rates R's speech production during conversation.
A familiar listener rates R's production of an unseen list of sentences.
An unfamiliar listener rates R's production of an unseen list of phrases.
A familiar listener rates R's speech production during a conversation where the topic is known.
(2) Therapy was continually adjusted to meet R's changing needs and abilities. Why is this type of ongoing adjustment important in the context of R's dysarthria?
(3) Oral-motor exercises were attempted early in R's therapy. Which of the following are true statements about these exercises?
Oral-motor exercises aim to improve the strength and range of articulatory movements.
Oral-motor exercises focus on the accurate production of speech targets.
Oral-motor exercises are contra-indicated in progressive dysarthria.
Oral-motor exercises include tasks such as tongue protrusion and elevation.
Oral-motor exercises focus on the accurate production of non-speech targets.
(4) Describe two aspects of this intervention which may have been adversely affected by R's psychiatric problems.
(5) R displayed maladaptive compensatory behaviour in response to his severe speech disorder. What is this behaviour? Why is it described as ‘maladaptive’?
Speech intervention: part 2
After intervention on the production of individual speech sounds proved to have limited benefit for speech intelligibility, the focus of intervention shifted to the use of suprasegmental guidelines on a continuous basis in contextual speech. The first two of these four guidelines emphasised the use of slowed rate and syllable-by-syllable production. This had a marked, positive effect on speech intelligibility for R. In fact, so considerable was the increase in R's intelligibility that he was able to secure part-time employment in 1980 for the first time since his diagnosis. In addition to these techniques, R was encouraged to make use of adequate respiratory support and appropriate pausing. He also received instruction in the use of stress and intonation patterns. However, these latter techniques were not as effective at improving intelligibility as slowed rate and syllable-by-syllable production. The third guideline encouraged the use of overarticulation within R's compensatory techniques. This required R to exaggerate articulatory movements. The fourth and final guideline, which complemented the third guideline, encouraged R to make use of increased mouth opening. This also increased R's intelligibility considerably. Notwithstanding these gains, R's motor speech skills were still highly vulnerable to the effects of physical fatigue. He was advised to rearrange his schedule in order to obtain sufficient rest, especially prior to therapy sessions. Because this advice was not always acted upon, R's compliance with this recommendation became a precondition for his enrolment in further therapy.
R's intelligibility was also compromised by hypernasality. R's hypernasal speech did not respond to traditional therapy techniques. Accordingly, a palatal lift appliance was recommended, which R used for approximately two years. By 1983, R's hypernasality had improved so much that even on days when he did not wear his palatal lift to therapy, his hypernasal speech had diminished considerably. Eventually, R was able to maintain improvements in his velopharyngeal control in the absence of the device, only resorting to its use during periods of fatigue.
Although R made considerable speech gains in clinic, he failed to generalise the use of his compensatory guidelines to communicative situations outside of clinic. Consistent with the therapeutic goal of helping R achieve optimal intelligibility and functional speech that was appropriate to his communicative needs in a range of settings, R was encouraged to assume ever greater responsibility for self-evaluation of his intelligibility and his use of the guidelines. Daily logs, which included ratings of intelligibility and consistency in use of the guidelines, were used for this purpose. Both R and his communicative partners completed these logs on a consistent basis. There was some deterioration in R's speech performance in the summer semester in 1985 when these logs were not completed. R married for the second time in 1983. R's wife occasionally attended therapy sessions in order to become acquainted with objectives and techniques which she could implement at home. It is expected that with greater involvement of R's wife in providing support, behaviour maintenance and feedback to R, he might be able to be discharged permanently from therapy.
Unit 7.4 Speech intervention: part 2
(1) Practice on speech sound production was minimally effective in terms of improving R's intelligibility. Accordingly, the focus of therapy changed to the implementation of suprasegmental guidelines. Which of the following speech production subsystems is targeted by these guidelines?
(2) Explain how slowed rate serves to increase the intelligibility of R's speech.
(3) Traditional therapy techniques did not improve R's hypernasality. Name one such technique. What is known about the efficacy of this particular technique?
(4) R achieved a satisfactory result in terms of resonation through the use of a palatal lift appliance. Explain how this appliance works to reduce hypernasal speech.
(5) Generalisation of improved speech skills beyond the clinic was an area of difficulty for R. What two main approaches were adopted to ensure that generalisation was achieved?
Speech outcome
R received intervention for his dysarthria over a 10-year period. At the outset of therapy, R was judged to have only 5% intelligibility (rated sentence by sentence) in connected speech. By the end of therapy, this had increased to an average of 95% intelligibility. During his 10-year period of intervention, R experienced several episodes when there were significant decreases in his intelligibility. These episodes could be accounted for by factors in R's lifestyle which he did not adequately manage and by R's underlying neurological disorder. When audiotaped samples of R's conversational speech from 1977 and 1985 were analysed and ranked according to the relative prominence of deviant speech features, it was found that whereas reduced intelligibility was first-ranked in 1977, it had dropped to fifth-ranked in 1985. This reflected R's success in using his compensatory techniques to achieve the major goal of treatment, optimal intelligibility and functional speech. The most prominent deviant speech features recorded in 1985 were imprecise consonants and prolonged phonemes. R's improved communicative status has enabled him to engage in full-time employment for the last three years. He has been remarried for two years and is the father of an infant son.
Unit 7.5 Speech outcome
(1) What contribution did R's articulation of individual speech sounds make to his overall intelligibility by the end of therapy?
(2) Throughout the 10-year period of R's intervention, his intelligibility decreased on certain occasions. Describe two factors which contributed to these episodes of reduced intelligibility in R.
(3) Increasingly, speech-language pathologists are asked to defend the cost-effectiveness of their interventions to clients. How would you defend the cost-effectiveness of the intervention that R has received?
(4) Charting R's speech progress over an extended period of time posed a number of challenges. Describe two such challenges.
(5) The decision to continue therapy in order to maximise the intelligibility of R's speech was motivated in part by his refusal to accept a form of augmentative or alternative communication. What does this decision reveal about how therapy can best be conducted?
