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腭心面综合征的神经认知表型:发育视角

The neurocognitive phenotype in velo-cardio-facial syndrome: a developmental perspective.

作者信息

Antshel Kevin M, Fremont Wanda, Kates Wendy R

机构信息

Department of Psychiatry and Behavioral Sciences, State University of New York, Upstate Medical University, Syracuse, NY 13210, USA.

出版信息

Dev Disabil Res Rev. 2008;14(1):43-51. doi: 10.1002/ddrr.7.

Abstract

Although research has focused primarily on the wide range of variability in the cognitive phenotype between individuals with velo-cardio-facial syndrome (VCFS), we know relatively little about the extent to which within-individual expressions of the cognitive phenotype remain stable throughout development. General cognitive functioning in the low borderline range is the most consistent cognitive finding. Stronger reading decoding and spelling skills as well as auditory/verbal rote memory skills have been reported to be areas of relative strength. Conversely, significant visuospatial dysfunction, diminished math attainment, and executive dysfunction have all been reported as phenotypic. We propose several considerations that could advance our knowledge of developmental changes in the VCFS cognitive phenotype. The most salient of these is the need for more longitudinal designs with carefully matched control participants.

摘要

尽管研究主要集中在腭心面综合征(VCFS)患者之间认知表型的广泛变异性上,但我们对认知表型在个体发育过程中的个体内表达保持稳定的程度了解相对较少。低临界范围内的一般认知功能是最一致的认知发现。据报道,较强的阅读解码和拼写技能以及听觉/言语死记硬背记忆技能是相对优势领域。相反,显著的视觉空间功能障碍、数学成绩下降和执行功能障碍都被报道为该综合征的表型特征。我们提出了几个可以增进我们对VCFS认知表型发育变化了解的考虑因素。其中最突出的是需要更多纵向设计,并精心匹配对照参与者。

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