Characteristics of Early Language Development in Children With Williams Syndrome.

IF 1.7 4区 生物学 Q3 GENETICS & HEREDITY
Dan Yao, Wei-Jun Chen, Fang-Fang Li, Ji-Yang Shen, Chai Ji
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Abstract

Williams Syndrome (WS) is a rare neurodevelopmental disorder characterized by dissonance in cognition and language. The purpose of this study was to investigate the characteristics of early language development in WS children. Seventeen children, aged 2-5 years, diagnosed with WS in the outpatient department of child healthcare in our hospital from December 2020 to June 2023, were included in this study. In the same period, 39 children with global developmental delay (GDD) diagnosed in the outpatient department of child healthcare in our hospital were included as the control group. All children underwent cognitive and language development assessments. The language development characteristics of WS children and the differences between WS children and children with total developmental delay were observed and analyzed. WS children had weaker language comprehension ability but significantly stronger expression ability than GDD children. Intra-group comparison found that most children in the WS group expressed better than they understood; the level of expression is relatively higher than the level of comprehension. While most children in the GDD group understood better than they expressed, the level of comprehension is relatively higher than the level of expression. In addition, the language imitation ability of WS children is significantly better than that of GDD children. Our findings suggest the outstanding feature of verbal ability is expression ability and language imitation ability of WS children; the comprehension ability is still weak. These findings can help us explore intervention methods that enable WS children to reach their full potential, so as to provide guidance for the education and rehabilitation strategies for WS patients.

威廉姆斯综合征儿童早期语言发展的特点。
威廉斯症候群(WS)是一种罕见的以认知和语言失调为特征的神经发育障碍。本研究旨在探讨WS儿童早期语言发展的特点。本研究纳入2020年12月至2023年6月在我院儿童保健门诊诊断为WS的17例儿童,年龄2-5岁。同期选取在我院儿童保健门诊确诊的39例全面性发育迟缓(GDD)患儿作为对照组。所有儿童都接受了认知和语言发展评估。观察和分析WS儿童的语言发展特点以及WS儿童与完全发育迟缓儿童的差异。WS儿童的语言理解能力弱于GDD儿童,但表达能力明显强于GDD儿童。组内比较发现,WS组大多数患儿表达好于理解;表达水平相对高于理解水平。虽然GDD组大多数儿童的理解能力强于表达能力,但理解水平相对高于表达水平。此外,WS儿童的语言模仿能力明显优于GDD儿童。研究结果表明,WS儿童言语能力的突出特征是表达能力和语言模仿能力;理解能力还很弱。这些发现可以帮助我们探索使WS儿童充分发挥其潜力的干预方法,从而为WS患者的教育和康复策略提供指导。
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来源期刊
CiteScore
3.50
自引率
5.00%
发文量
432
审稿时长
2-4 weeks
期刊介绍: The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts: Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders. Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .
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