Speech profile of wilsons' disease

摘要

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.