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

Q3 Biochemistry, Genetics and Molecular Biology Journal of Natural Science, Biology, and Medicine Pub Date : 2020-07-01 DOI:10.4103/jnsbm.JNSBM_178_19
M. Anil, R. Rebello, J. Bhat
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引用次数: 3

摘要

Fahr病是一种罕见的神经退行性疾病,其特征是控制运动的大脑区域钙的异常沉积。年幼儿童中Fahr病的病例很少见到,关于言语和语言表现的文献有限。本病例报告强调了一名6岁女童Fahr病的早期言语和语言表现。儿童表现为运动功能缺陷,发音错误,言语可理解性降低。观察到运动缓慢和迟缓。语言评估显示词汇量减少,表达语言发育迟缓。早期的读写能力正在显现。尽管与成人所表现出的无数并发症相比,幼儿的缺陷看起来微不足道,但研究结果具有重要的临床意义。这篇文章扩展了我们对儿童Fahr病的理解,它的性质和发病,早期体征和症状,可使用的评估方案,以及可能的管理策略。这些发现可以帮助研究人员、学生和临床医生在诊所和研究。
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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.
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来源期刊
Journal of Natural Science, Biology, and Medicine
Journal of Natural Science, Biology, and Medicine Biochemistry, Genetics and Molecular Biology-Biochemistry, Genetics and Molecular Biology (all)
CiteScore
2.40
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0.00%
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0
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