| Background Wilson’s disease is an autosomal recessive genetic disease located on ATP7 B copper enzymes mutations that can lead to metabolic disorders.The copper ions deposit in the cerebral basal ganglia,liver,cornea and other internal organs of the slow copper deposition,the clinical symptoms of extrapyramidal,liver cirrhosis and kayser-fleischer ring as the main performance.Moreover,extrapyramidal symptoms is complex and diverse,mainly dysarthria,myotonia,tremor abornmal expression,clumsy action,usually couple with dysmyotonia,which is one of the main manifestations of dysphonia.Dysmyotonia reduces the speech articulation and communication ability of WD patients.Clinical also found that more than 60% of brain-type WD patients with a certain degree of dysphagia.They easily lead to aspiration,dehydration,electrolyte imbalance,inhalation pneumonia and other complication if they did not treat effectively in time.Dysarthria and dysphagia both cause acertain impact on the patients’ quality of life and social life ability.Realated studies have shown that WD patients with dysarthria and dysphagia recover slowly after treatment,some patients with longterm handicapped symptoms,difficult to reverse,and often lift with varying degrees of sequelations.Therefore,selecting a comprehensive and targeted assessment method to find mild atypical WD patients with dysarthria and dysphagia,timely access to appropriate intervention measures is particularly important.At present,it is not yet found a relevant report about comprehensive clinical assessment methods in WD patients with dysarthria and dysphagia.The purpose of this study is to analyse systematically and detailly about WD patients with dysarthria and dysphagia,following the three steps of basic principles of initial screening-clinical function assessment-instrument evaluation,to explore the specific locations of its dysfunction and the severity state of the illness.Not only it can correctly guide us to select effective interventions,but also to abserve clinical effects of the treatment,which is a great significance to guide for clinical practice comprehensively.Objection Evaluate the WD patients with dysarthria by the Frenchay dysarthria assessment scale and fiber laryngoscopy,and assess the swallow function in WD patients with dysphagia using the standardized swallowing assessment(SSA)and video fluoroscopic swallowing study(VFSS).Meanwhile,using modified of Global Assessment Scale for Wilson’s Disease(GAS)to evaluate globle status of WD patients,also to further explore the relevance between brain MRI abnormal signal in WD patients and clinical classification,clinical manifestations and duration of the disease.So as to assess the WD patients comprehensively and systematicly,and guide the smooth implementation of clinical practice.Subjects and methods 1.Subjects According to the diagnosis and classification criteria of Wilson’s disease,participants were diagnosed and with varying degrees of dysarthria and/or dysphagia,excluded from severe cognitive impairment,mental disorders,severe liver and kidney dysfunction and other diaease that can not understand and cooperate with the study and will affect the dysarthria or dysphagia assessment or lead to misdiagnosis in patients.20 patients without dysarthria and dysphagia were selected as the control group of brain MRI,and also met the exclusion criteria.2.Methods 2.1 The assessment process of dysarthria Get a simple communication with WD patients after accessing to hospital,using Frenchay dysarthria assessment and fiber laryngoscopy to check its verbal function in WD patients suspected of dysarthria.The verbal function was assessed when WD patients were hospitalized again(mean 6-8 months).2.2 The assessment process of dysphagia Kubota drinking water test and SSA were two clinical assessment about swallowing function,they were carried out on WD patients suspected of dysphagia.As to the results,the VFSS examination was performed to observe the abnormal swallowing function as soon as possible,using VGF to assess the severity of WD patients with VFSS.2.3 Globle severity assessment The Global Assessment Scale for Wilson’s Disease was assessed in WD patients with dysarthria and/or dysphagia to assess the severity of disease.2.4 Brain MRI examination WD patients need to be scanning with 1.5T linear,whole body,double gradient magnetic resonance of Radiology Department in the First Affiliated Hospital of clinical medicine of Guangdong Pharmaceutical University.MRI routine scans include transversal and sagittal orientation,T1 weight imaging,T2 weight imaging,and FLAIR sequences.2.5 Other examination The mutations of ATP7 B gene in WD patients were detected by denaturing high performance liquid chromatography(DHPLC).The ultrasonography was performed in the First Affiliated Hospital of clinical medicine of Guangdong Pharmaceutical University,also detect the serum copper and ceruloplasmin.2.6 Statistical analysis SPSS 23.0 was used for statistical analysis.The results of the measurement data were expressed as x?±s.P<0.05 was considered statistically significant,P<0.01 was considered statistically notably significant.Results 1.Evaluation of dysarthria(1)The scores of FDA was significant different between Wilson-type and pseudo-sclerosis-type in WD patients with dysarthria.(2)Fiber laryngoscopy showed that tongue,lips and pharyngeal is the mainly abnormal structure that lead to the dysphonia in WD patients.And the severity of Fiber laryngoscopy examination was correlated with FDA assessment.(R=-0.672,P<0.01).(3)There was significant difference between the dysarthria assessment group before and after treatment(P < 0.05).There was significant difference between the MPT assessment group before and after treatment(P<0.01).There was a correlation between FDA and MPT(P=0.644,<0.01).2.Assessment of dysphagia(1)Kubota drinking water test showed that WD patients mainly suffered from mild-moderate dysphagia,few accompanied with severe dysphagia.(2)VFSS examination showed that lips,tongue and lower jaw were the main reason of dysphagia in WD patients.3.Study on the related factors of dysarthria and dysphagia(1)The correlation with the globe severity There was a correlation between the FDA,SSA and modified of GAS in patients with dysphagia,indicating that the severity of WD with dysarthria and dysphagia was related to the globe severity of the WD patients.(2)The correlation with the brain MRI(1)WD patients with dysplasia were divided into five groups according to the morphology of the lesions of brain MRI.Among them,strip shape group was the most severe,but mottling-type and patchy-type groups were relatively lighter.(2)The abnormal of dysarthria and dysplasia were significantly correlated with putamen and brain atrophy.(3)There was no significant correlation between intracranial lesions and course of disease.(3)The correlation with the ATP7 B mutation sites WD patients with c.2333G>T mutation was significantly heavier than those without c.2333G>T mutation in dysarthria,but not related to c.3443G>T mutation site.4.Study on the correlation of other factors(1)57.7% of the WD patients with dysarthria and/or dysphagia have splenomegaly,almost all patients are accompanied by varying degrees of liver damage or cirrhosis.(2)All patients with low serum copper;96.6%(56/58)of ceruloplasmin levels in WD patients with dysarthria and/or dysphagia were lower than low value.Conclusions 1.The main reason of dysarthria in WD patients is dystonia,and the severity of dysarthria is relate to the onset of age.2.The function was improved after treatment in WD patients with dysarthria,and MPT was a important indicator of Frenchay dysarthria assessment scale in WD patients.3.Lips,tongue and laryngopharynx were the mainly abnormal structure in patients with dysarthria,and less with the vocal cord.Dysphagia was mainly abnormal in lips,tongue and lower jaw.Both of them mainly involved in perioual muscle.4.The positions of abnormal signal in brain MRI were more wider and heavier as the disease condition worsened,and the severity of ysarthria and dysphagia would increased as well.But it had nothing to do with the length of the disease. |
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