{"title":"患有fahr病的儿童的语言特征:罕见的神经退行性疾病病例报告","authors":"M. Anil, R. Rebello, J. Bhat","doi":"10.4103/jnsbm.JNSBM_178_19","DOIUrl":null,"url":null,"abstract":"Fahr's disease is a rare, neurodegenerative disorder characterized by abnormal deposits of calcium in areas of the brain that control movement. Cases of Fahr's disease in young children are rarely seen, and limited literature is available on speech and language manifestations. The present case report highlights the early speech and language manifestations of Fahr's disease in a 6-year-old female child. The child presented with deficits in oro-motor functions, with articulatory errors and reduced intelligibility of speech. The oro-motor movements were observed to be slow and sluggish. Language assessment revealed reduced vocabulary and delay in expressive language. Early literacy skills were seen to be emerging. Although the deficits in young children look subtle in comparison to the myriad complications exhibited by adults, the findings have substantial clinical implications. This article expands our understanding of Fahr's disease in children, its nature and onset, early signs and symptoms, assessment protocols to be used, and the possible management strategies. These findings can help researchers, students, and clinicians in clinics as well as research.","PeriodicalId":16373,"journal":{"name":"Journal of Natural Science, Biology, and Medicine","volume":"141 1","pages":"206 - 209"},"PeriodicalIF":0.0000,"publicationDate":"2020-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"3","resultStr":"{\"title\":\"Speech-language profile of a child with fahr's disease: Case report of a rare neurodegenerative disorder\",\"authors\":\"M. Anil, R. Rebello, J. Bhat\",\"doi\":\"10.4103/jnsbm.JNSBM_178_19\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Fahr's disease is a rare, neurodegenerative disorder characterized by abnormal deposits of calcium in areas of the brain that control movement. Cases of Fahr's disease in young children are rarely seen, and limited literature is available on speech and language manifestations. The present case report highlights the early speech and language manifestations of Fahr's disease in a 6-year-old female child. The child presented with deficits in oro-motor functions, with articulatory errors and reduced intelligibility of speech. The oro-motor movements were observed to be slow and sluggish. Language assessment revealed reduced vocabulary and delay in expressive language. Early literacy skills were seen to be emerging. Although the deficits in young children look subtle in comparison to the myriad complications exhibited by adults, the findings have substantial clinical implications. This article expands our understanding of Fahr's disease in children, its nature and onset, early signs and symptoms, assessment protocols to be used, and the possible management strategies. These findings can help researchers, students, and clinicians in clinics as well as research.\",\"PeriodicalId\":16373,\"journal\":{\"name\":\"Journal of Natural Science, Biology, and Medicine\",\"volume\":\"141 1\",\"pages\":\"206 - 209\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"3\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Natural Science, Biology, and Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4103/jnsbm.JNSBM_178_19\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Biochemistry, Genetics and Molecular Biology\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Natural Science, Biology, and Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4103/jnsbm.JNSBM_178_19","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Biochemistry, Genetics and Molecular Biology","Score":null,"Total":0}
Speech-language profile of a child with fahr's disease: Case report of a rare neurodegenerative disorder
Fahr's disease is a rare, neurodegenerative disorder characterized by abnormal deposits of calcium in areas of the brain that control movement. Cases of Fahr's disease in young children are rarely seen, and limited literature is available on speech and language manifestations. The present case report highlights the early speech and language manifestations of Fahr's disease in a 6-year-old female child. The child presented with deficits in oro-motor functions, with articulatory errors and reduced intelligibility of speech. The oro-motor movements were observed to be slow and sluggish. Language assessment revealed reduced vocabulary and delay in expressive language. Early literacy skills were seen to be emerging. Although the deficits in young children look subtle in comparison to the myriad complications exhibited by adults, the findings have substantial clinical implications. This article expands our understanding of Fahr's disease in children, its nature and onset, early signs and symptoms, assessment protocols to be used, and the possible management strategies. These findings can help researchers, students, and clinicians in clinics as well as research.