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 Table of Contents  
CASE REPORT
Year : 2020  |  Volume : 8  |  Issue : 2  |  Page : 287-289

Speech profile of wilsons' disease


1 Department of Audiology & Speech-Language Pathology, Sound for Life, New Delhi, India
2 Department of Otolaryngology, Speech and Hearing Unit, PGIMER, Chandigarh, India

Date of Submission24-Mar-2020
Date of Decision06-Aug-2020
Date of Acceptance28-Sep-2020
Date of Web Publication23-Dec-2020

Correspondence Address:
Mr. Himanshu Verma
Department of Otolaryngology, Speech and Hearing Unit, PGIMER, Chandigarh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/amhs.amhs_40_20

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  Abstract 


Wilson disease (WD) is rare, inherited autosomal recessive disease of copper metabolism resulting in copper toxicity. Studies reported that it may occur due to the mutation of the ATP7B gene. The present study highlights the speech and swallowing issue in the individual with WD. In this case, we are reporting a male of 18 years with no history of consanguinity and family history of any disease or disorder. He was first diagnosed with WD at the age of 16 years with the first sign of gradual deterioration in speech intelligibility and motor functions appearing at the age of 15 years. Present literature lacks the studies related to the speech profile of WD; therefore, we aimed to assess the complete speech battery, which will provide the baseline for further speech and swallowing rehabilitation. Based on complete assessment, the client was diagnosed with mixed dysarthria and swallowing issues at oral preparatory and oral stage of swallowing. The client also had poor handwriting skill. The present case study focuses on speech, swallowing, and communication issues of WD, which will further help in better understanding of the symptoms related to speech, swallowing, and communication as well as help in the rehabilitation process.

Keywords: Dysarthria, dysphagia, speech intelligibility, Wilson's disease


How to cite this article:
Dogra N, Verma H. Speech profile of wilsons' disease. Arch Med Health Sci 2020;8:287-9

How to cite this URL:
Dogra N, Verma H. Speech profile of wilsons' disease. Arch Med Health Sci [serial online] 2020 [cited 2021 Apr 18];8:287-9. Available from: https://www.amhsjournal.org/text.asp?2020/8/2/287/304727




  Introduction Top


Wilson disease (WD) is a rare inherited autosomal recessive disease of copper metabolism which occurs due to mutation of the ATP7B gene.[1] There is a lack of epidemiological studies related to WD however; one study reported that WD occurs approximately 1 in 40,000 across the Korean population.[2] In the Indian scenario, we found one epidemiological study which estimated that approximately 15–20 new cases of WD registered annually in Bangalore.[3] Ferenci et al., 2003[4] reported that an individual mostly becomes symptomatic between the ages of 5–35 years. Clinical features include many presentations ranging from asymptomatic state to chronic liver disease, neuropsychiatric manifestation, or acute liver failure. This disease affects mostly liver, eyes, brain and combination of any. As the disease progresses specific symptom related to the eyes start manifesting that is the appearance of the Kayser-Fleischer (K-F) ring, which is also consider to be hallmark feature of WD. K-F ring are corneal copper deposits within descement membrane, appearing as granulargolden-greenish layer near the limbus.[5] Neurological manifestations are mostly present in 40%–50% of clients with WD.[6] Svetel et al.,[7] categorized neurological manifestation of WD as: (a) an akinetic-rigid syndrome similar to Parkinson's disease, (b) pseudosclerosis dominated by tremor, (c) ataxia, and (d) a dystonic syndrome. Many studies reported behavioral changes such as deterioration in scholastic performance and hand-eye coordination before the presence of neurological sign.[8] Micrographia, drooling, dysarthria, spasticity are other common neurological signs. Poujois et al., 2017[9] presented the case study of WD and reported the presence of dystonic dysarthria. As per other study from Bangalore, authors studied the large cohort of patients and reported the most common neurological presentation were  Parkinsonism More Details (i.e., 62.3%), 35.4% dystonia, 28% cerebellar, 16% pyramidal signs, 9% chorea, 2.2%athetosis, 3.4% myoclonus, and 16% behavioral abnormalities.[8]

As per our knowledge, there are limited numbers of studies available in the literature related to the speech profile of WD. Hence in the present study, we are trying to highlight the speech and swallowing-related issues, which will be helpful in planning the treatment and management.


  Case Report Top


An 18-year-old male client reported to us with the complaint of unable to speak clearly. We conducted the detailed case history using the interview method, which revealed that his motor function was normal till the age of 15 years and gradually, tongue and swallowing functions began to deteriorate. He belonged to joint family with no history of consanguinity. At the age of 16 years, he was diagnosed with WD at private hospital in Delhi. After the diagnosis of WD he started avoiding social gathering due to speech issues as reported by subject. No significant medical history or liver disease in the family was reported; however, his maternal uncle had diplegia of lower limb due to paralytic attack.

The assessment of speech and swallowing issues were done through performing complete speech test battery which included detailed oral peripheral assessment, voice assessment, cranial nerve (CN) assessment, dysarthria assessment, swallowing assessment, rate of speech assessment and articulation assessment.

Oral peripheral mechanism examination

A guideline given by Shipley[10] was used to assess the oral peripheral mechanism (OPM). The assessment revealed that the face drooped toward the left and grinding noise from temporomandibular joint was present while talking and chewing. Jaw movement was jerky, and the range of movements was reduced. The range and strength of the lip movement were reduced and inadequate, especially while puckering. Case was not able to maintain intra-oral pressure adequately, and nasal emissions were present while speaking. He had jerky tongue movements, reduced range, and speed of motion on protrusion. Tongue strength was reduced. On retraction tongue was deviated toward the left side, reduced range, and speed of motion noticed. Case was unable to elevate the tongue and had weak gag reflex. On phonation of a client, soft palate and uvula were deviated toward left.

Voice assessment

To assess the voice, complete voice battery was performed, which includes acoustic analysis, perceptual analysis, and quality of life questionnaire. Praat (freely available acoustic analysis software) was used to perform acoustic analysis. On acoustic analysis, the client had poor harmonic-to-noise ratio and high shimmer values. Buffallo III voice screening profile[11] was used for perceptual analysis, which revealed mild breathiness with mild rhinolalia aperta. Voice Related Quality of Life questionnaire[12] was used to assess client's perception and revealed that client had a problem while talking on the phone, and scores also suggested that client needs improvement in voice quality. For s/z ratio task client scored 0.99, which is indicative of no laryngeal pathology. The client also had reduced Phonation Time (13.2 s) than normative values.

Articulation assessment

Hindi-Photo Articulation Test (H-PAT) was performed to assess client's articulatory skills at word level and assessment revealed distortion error in his speech were more prevalent. Client had 38.88% of articulation error on H-PAT. Articulatory skills were more affected at multisyllabic words and in connected speech.

Speech intelligibility

Speech intelligibility rating scale given by AYJNIHH was used to assess the speech intelligibility of client. Client scored “3” which indicates that speech can be understood with concentration and effort, especially by sympathetic listeners.

Cranial nerve examination

CNs important for swallowing and speech were assessed using tasks given by Love and Webb.[13] CNs V, VII, IX, X and XII were assessed, and result revealed that function of all nerves except CN IX and X were inadequate, as shown in [Table 1].
Table 1: Summary of cranial nerve assessment

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Dysarthria assessment

Frenchays' dysarthria assessment (FDA)[14] and assessment protocol by AYJNISHD (D) was performed. Result revealed that the client had inadequate gait and lip seal. Client was not able to perform diadochokinetic task for/ta/sound. FDA result further revealed that tongue and lip functions were severely affected. Detailed FDA result is presented through graphical representation, as shown in [Figure 1].
Figure 1: The summary of Frenchays' dysarthria assessment. The unshaded area represents the amount of impairment

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Swallowing assessment

Protocol by AYJNSIHD (D) for swallowing assessment and cervical auscultation were performed to assess the client's swallowing skills. The report revealed that the client had a problem in chewing. Due to inadequate functioning of the tongue client had difficulty in the manipulation of food from one side of oral cavity to other side. Client had prolonged oral transit time (>1.25 s). The client sometimes had gurgly voice quality after having food. He also reported that he lost approximately 20 kg weight in 1 year.

Drooling assessment

Due to inadequate lip seal and lip strength, drooling could be observed. To assess drooling, quantification of the drooling scale[15] was administered which indicate moderate severity.

Rate of speech

Rate of speech was calculated using procedure given by Shipley.[10] Client's rate of speech was 77 words per minute, which is less than the normative and indicates that client had “slow rate of speech.”

Writing skills

Client had poor handwriting skill with misalignment, as shown in [Figure 2].
Figure 2: Writing sample of the client

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  Discussion Top


After completion of the test battery, we diagnosed the client as Mixed Dysarthria as his dysarthric speech features were not limited to one type as revealed in speech assessment, whereas Poujois et al.[9] reported the presence of dystonic dysarthria in patient with WD. This may lead to the hypothesis that WD may have a varying range of representations of dysarthria depending upon on severity and its effect on neurological functioning. Due to poor OPM client had difficulties in swallowing, which resulted in “Dysphagia at the oral preparatory stage.” In the present study, we were not able to used instruments like fiberoptic endoscopic evaluation of swallowing or videofluoroscopy to assess the swallowing function due to the unavailability of the same. During case history, the client also expressed that he avoids social gathering and meeting with new people due to poor speech skills and drooling, same was also reported by Taly et al.[8] Articulation examination revealed distortion as a major articulatory error. This may be due to poor intra-oral pressure and poor orofacial musculature strength and range, which is a neurological representation of the WD.


  Conclusion Top


We can conclude that WD is one of the rare neurological disorder which affects clients' speech, voice, and swallowing mechanism. WD affects the clients' day to day activities and hence impaired quality of life. This is one of the case-report exploring the speech and other related impairment in WD. In future, we will focus on speech, swallowing, and communication rehabilitation process and successful outcomes.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Hefter H, Arendt G, Stremmel W, Freund HJ. Motor impairment in Wilson's disease, II: Slowness of speech. Acta Neurol Scand 1993;87:148-60.  Back to cited text no. 1
    
2.
Kim GH, Yang JY, Park JY, Lee JJ, Kim JH, Yoo HW. Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system. Genet Test 2008;12:395-9.  Back to cited text no. 2
    
3.
Devarbhavi H, Singh R, Adarsh CK. The clinical, laboratory characteristics, natural history and outcome in 201 patients with Wilson disease. Hepatology 2012;56 (Suppl S1):826A.  Back to cited text no. 3
    
4.
Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sternlieb I, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003;23:139-42.  Back to cited text no. 4
    
5.
Patil M, Sheth KA, Krishnamurthy AC, Devarbhavi H. A review and current perspective on Wilson disease. J Clin Exp Hepatol 2013;3:321-36.  Back to cited text no. 5
    
6.
Walshe JM. Wilson's disease. The presenting symptoms. Arch Dis Child 1962;37:253-6.  Back to cited text no. 6
    
7.
Svetel M, Kozic D, Stefanova E, Semnic R, Dragasevic N, Kostic VS. Dystonia in Wilson's disease. Mov Disord 2001;16:719-23.  Back to cited text no. 7
    
8.
Taly AB, Meenakshi-Sundaram S, Sinha S, Swamy HS, Arunodaya GR. Wilson disease description of 282 patients evaluated over 3 decades. Medicine (Baltimore) 2007;86:112-21.  Back to cited text no. 8
    
9.
Poujois A, Pernon M, Trocello JM, Woimant F. Dystonic dysarthria in Wilson disease: Efficacy of zolpidem. Front Neurol 2017;8:559.  Back to cited text no. 9
    
10.
Shipley KG. Assessment in Speech-Language Pathology: A Resource Manual. San Diego: Singular Pub Group; 1992.  Back to cited text no. 10
    
11.
Wilson DK. Voice Problems of Children. 3rd ed. Baltimore, USA: Williams & Wilkins; 1987.  Back to cited text no. 11
    
12.
Hogikyan ND. The Voice-Related Quality of Life (V-RQOL) measure: History and ongoing utility of a validated voice outcomes instrument. Perspect Voice Disord 2004;14:3-5.  Back to cited text no. 12
    
13.
Love RJ, Webb WG. Neurology for the Speech-Language Pathologist. 2nd ed. Boston: Butterworth-Heinemann; 1991.  Back to cited text no. 13
    
14.
Enderby P. Frenchay Dysarthria Assessment. Texas: Pro-Ed; 1983.  Back to cited text no. 14
    
15.
Thomas-Stonell N, Greenberg J. Three treatment approaches and clinical factors in the reduction of drooling. Dysphagia 1988;3:73-8.  Back to cited text no. 15
    


    Figures

  [Figure 1], [Figure 2]
 
 
    Tables

  [Table 1]



 

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