多学科诊断和治疗模式在羔羊沙弗综合征中的作用--病例报告。

IF 2 3区生物学 Q3 BIOTECHNOLOGY & APPLIED MICROBIOLOGY

Journal of Applied Genetics Pub Date : 2024-12-01 Epub Date: 2024-02-10 DOI:10.1007/s13353-024-00838-3

Urszula Sajewicz-Radtke, Ariadna Łada-Maśko, Małgorzata Lipowska, Bartosz M Radtke, Beata S Lipska-Ziętkiewicz, Katarzyna Krempla-Patron

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引用次数: 0

摘要

本病例研究阐述了针对一名患有羔羊沙弗综合征（LAMSHF）的 7 岁男性患者的多学科诊断和治疗模式。LAMSHF 是一种超罕见的遗传性神经发育障碍，由 SOX5 基因的杂合性改变引起。本文介绍了一种治疗认知功能和语言的综合模式。介绍的方法通过刺激基本认知功能来发展语言能力，从而使患者能够学习语言的抽象规则。结果发现，儿童的认知功能（推理能力和语言表达能力）得到了意想不到的改善，独立性也得到了提高。尽管 LAMSHF 的预后不佳，但仍需要继续刺激认知能力的发展，这一点在临床上具有重要意义。

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The role of multidisciplinary diagnostic and therapeutic model of care in Lamb-Shaffer syndrome - case report.

This case study illustrates a multidisciplinary diagnostic and therapeutic model of care for a 7-year-old male with Lamb-Shaffer syndrome (LAMSHF). LAMSHF is an ultra-rare genetic neurodevelopmental disorder, caused by heterozygous alterations in the SOX5 gene. An integrative model of therapy of cognitive functions and speech is described. The presented approach allows the development of language competences through stimulation of basic cognitive functions, which allows the learning of the abstract rules of an inflected language. A surprising, unexpected improvement in the cognitive functioning of the child was observed (both in terms of reasoning and speech), as well as an increase in his independence. The clinically important problem of the need for continued stimulation of cognitive development, in spite of the unfavourable prognosis associated with LAMSHF, is highlighted.

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来源期刊

Journal of Applied Genetics 生物-生物工程与应用微生物

CiteScore

4.30

自引率

4.20%

发文量

审稿时长

6-12 weeks

期刊介绍： The Journal of Applied Genetics is an international journal on genetics and genomics. It publishes peer-reviewed original papers, short communications (including case reports) and review articles focused on the research of applicative aspects of plant, human, animal and microbial genetics and genomics.