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22q11.2缺失综合征患儿的数学学习障碍:综述

Mathematical learning disabilities in children with 22q11.2 deletion syndrome: a review.

作者信息

De Smedt Bert, Swillen Ann, Verschaffel Lieven, Ghesquière Pol

机构信息

Centre for Parenting, Child Welfare and Disabilities, Katholieke Universiteit Leuven, Leuven, Belgium.

出版信息

Dev Disabil Res Rev. 2009;15(1):4-10. doi: 10.1002/ddrr.44.

Abstract

Mathematical learning disabilities (MLD) occur frequently in children with specific genetic disorders, like Turner syndrome, fragile X syndrome and neurofibromatosis. This review focuses on MLD in children with chromosome 22q11.2 deletion syndrome (22q11DS). This syndrome is the most common known microdeletion syndrome with a prevalence of at least 1:4000 to 1:6000 live births. Although the clinical presentation of 22q11DS is quite variable, its major characteristics include velopharyngeal abnormalities, congenital cardiac anomalies, mild facial dysmorphism and learning difficulties. Children with 22q11DS show considerable difficulties in mathematics, despite relatively normal reading performance. While fact retrieval seems to be preserved, impairments in procedural calculation and word problem solving are particularly prominent. Children with 22q11DS also have substantial difficulties in understanding and representing numerical quantities, possibly related to poor visuospatial attention, which all might stem from their underlying abnormalities in the inferior parietal cortex. This review ends with a discussion on how research on genetic disorders might aid our understanding of MLD in general.

摘要

数学学习障碍(MLD)在患有特定遗传疾病的儿童中经常出现,如特纳综合征、脆性X综合征和神经纤维瘤病。本综述聚焦于22q11.2缺失综合征(22q11DS)患儿的MLD。该综合征是最常见的已知微缺失综合征,活产患病率至少为1:4000至1:6000。尽管22q11DS的临床表现差异很大,但其主要特征包括腭咽异常、先天性心脏异常、轻度面部畸形和学习困难。22q11DS患儿在数学方面表现出相当大的困难,尽管阅读能力相对正常。虽然事实检索能力似乎得以保留,但程序性计算和解决文字问题方面的障碍尤为突出。22q11DS患儿在理解和表征数量方面也存在很大困难,这可能与视觉空间注意力差有关,所有这些可能都源于其顶下小叶皮质的潜在异常。本综述最后讨论了关于遗传疾病的研究如何有助于我们总体上理解MLD。

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