Laboratory of Psychological and Educational Tests, Gdańsk, Poland.
Institute of Psychology, University of Gdańsk, Bażyńskiego 8 Street, 80-309, Gdańsk, Poland.
J Appl Genet. 2024 Dec;65(4):747-755. doi: 10.1007/s13353-024-00838-3. Epub 2024 Feb 10.
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.
本案例研究展示了一种针对患有 Lamb-Shaffer 综合征（LAMSHF）的 7 岁男童的多学科诊断和治疗模式。LAMSHF 是一种极为罕见的遗传性神经发育障碍，由 SOX5 基因突变引起。描述了一种认知功能和言语治疗的综合模式。所提出的方法通过刺激基本认知功能来发展语言能力，从而学习屈折语言的抽象规则。观察到患儿的认知功能（推理和言语）有惊人的、意外的改善，独立性也有所提高。突出了与 LAMSHF 相关的不利预后相关的临床重要问题，即需要持续刺激认知发展。
