Abstracts Submitted: 257
Number of Users: 304
View Abstracts Submitted
Back to home Page
Introduction: Wilson Disease (WD) is a rare, inherited autosomal recessive disease of copper metabolism resulting in copper toxicity. WD occurs due to mutation of the ATP7B gene (Hefter, Arendt, Stremmel & Freund, 1993). A study conducted by Kim et al., (2008) reported that WD occur approximately 1 in 40,000 across Korean population. Presently there is no study talking about incidence & prevalence of WD in India However one of Indian study estimated that approximately 15-20 new cases of WD is registered annually in Bangalore (Devarbhavi, Singh & Adarsh, 2012). Clinical features of WD include many presentations ranging from asymptomatic state to chronic liver disease, neuropsychiatric manifestation, or acute liver failure. Ferenci et al 2003 reported that an individual mostly becomes symptomatic between the ages of 5 and 35 years. WD affects mostly liver, eyes, brain and combination of any. When eyes are affected due to WD than its mostly show 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 granular golden-greenish layer near the limbus (Patil et. al., 2013). Neurological manifestations are mostly present in 40-50% of clients with WD (Waise, 1962). Svetal et. al., (2001) 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 decrease in scholastic performance and hand-eye discoordination before neurological sign in WD (Taly, Meenakshi & Sinha, 2007). Micrographia, drooling, dysarthria, spasticity are other common neurological signs. Poujois et al., 2017 presented the case study of WD and reported the presence of dystonic dysarthria. In a large cohort of patients from Bangalore, the commonest neurological presentation includes parkinsonism 62.3%, dystonia 35.4%, cerebellar 28%, pyramidal signs 16%, chorea 9%, athetosis, 2.2%, myoclonus 3.4% and behavioral abnormalities 16% (Taly, Meenakshi & Sinha, 2007). Case presentation: An 18 year old male client reported to our clinic with complaint of unable to speak clearly. His motor function was normal till the age of 15 year and gradually started problem in tongue movements and swallowing. He was diagnosed with WD at the age of 16 year in one of private hospital of New-Delhi. He belonged to joint family with no history of consanguinity. He also reported no history of any liver disease in family however he reported that his maternal uncle had diplegia of lower limb due to paralytic attack. He also reported that he loosed 20 kg weight approximately in one year. Initially after diagnosis of WD he started avoiding social gathering due to speech issues but presently he is quite active and attends social gathering. To assess the extent of speech issues a complete speech battery was performed including detailed Oral Peripheral assessment, Voice assessment, Cranial Nerve assessment, Dysarthria assessment, Swallowing assessment, Rate of speech assessment and articulation assessment. Oral Peripheral Mechanism (OPM): A guideline given by Shipley (1992) was used to assess OPM. Assessment revealed that face drooped towards left, jerky and reduced range of jaw movements and grinding noise from temporomandibular joint while talking & chewing. Range of lips was reduced and strength was weak while puckering, on protrusion lip range was restricted & inadequate and client was not able to maintained intra-oral pressure. Occasionally nasal emissions were present. Client has jerky tongue movements, reduced range & speed of motion on protrusion. Tongue strength also reduced. On retraction tongue was deviated to left side, reduced range and speed of motion noticed. Client not able to elevated the tongue. Client also had weak gag reflex. On phonation of /a/ client soft palate & uvula was deviated towards left. Voice Assessment: To assess the voice, complete voice battery was performed which includes acoustic analysis, perceptual analysis and quality of life questionnaire. Praat was used to performed acoustic analysis. On acoustic analysis, client had poor HNR and high shimmer values. Buffallo III voice screening profile was used for perceptual analysis which revealed mild breathiness with mild rhinolalia aperta. Voice Related Quality of Life (VRQOL) questionnaire was used to assess client perception and it revealed client had problem while talking on phone and score reveled that client needs improvement in voice. S/z ratio was also performed and client scored 0.99 which is indicative of no laryngeal pathology. Client also had less Maximum Phonation Time (13.2 sec) than normative values. Articulation Assessment: Hindi-Photo Articulation Test (H-PAT) was performed to assess client articulatory skills at word level and assessment revealed that client had more distortion error in his speech. Client had 38.88% of articulation error on H-PAT. Speech Intelligibility: Speech intelligibility rating scale given by ISHA was used to assess speech intelligibility of client. Client scored “3” which indicate that speech can understand with concentration & effort especially by sympathetic listener. Cranial Nerve Examination: Cranial Nerves (CN) important for swallowing and speech were assessed using tasks given by love & webb (1991). Cranial nerves V, VII, IX, X & XII were assessed and result revealed that function of all nerves were inadequate except CN IX & X. Dysarthria Assessment: Frenchays’ Dysarthria Assessment (FDA) and assessment protocol by AYJNISHD (D) was performed. Result revealed that client had inadequate gait and lip seal. Client not able to performed AMR task for /ta/ sound. FDA result further revealed that tongue function and lip function is severely affected. Further result represented through graphical representation of FDA as shown in Figure 1. Swallowing Assessment: Protocol by AYJNSIHD (D) for swallowing assessment & cervical auscultation was performed to assess the clients’ swallowing skills. Report revealed that client had problem in chewing. Due to inadequate function of tongue client had difficulty in manipulation of food from one side of oral cavity to other side. Client had prolong oral transit time (>1.25 sec). Client occasionally had gurgly voice quality after having food. Drooling Assessment: Due to inadequate lip seal and lip strength client had drooling. To assess drooling, quantification of drooling scale was administered which indicate moderate severity. Rate of Speech: Rate of speech was calculated using procedure given by Shipley. Client rate of speech was 77 word per minute which less than the normative, so client had “slow rate of speech”. Writing Skills: Client had poor hand writing and misalignment. CONCLUSION: After completion of test battery we diagnosed the client as Mixed Dysarthria with dysphagia at oral preparatory stage. We can conclude that Wilson disease is one of the rare neurological disorder which affect clients speech, voice and swallowing mechanism. WD is affecting the client’s 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 Wilson disease.
© Copyright 2017 All Rights Reserved