Learning from atypical development: A systematic review of executive functioning in children and adolescents with the 22q11.2 deletion syndrome

IF 5.7 1区 心理学 Q1 PSYCHOLOGY, DEVELOPMENTAL Developmental Review Pub Date : 2021-06-01 DOI:10.1016/j.dr.2021.100962
Emma Everaert , Tessel Boerma , Iris Selten , Jacob Vorstman , Frank Wijnen
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引用次数: 1

Abstract

In this systematic review, we investigate executive functioning (EF) in a selected population: children and adolescents with 22q11.2 Deletion Syndrome (22q11DS). Studying a selected subset of the population can inform our understanding of typical development by reducing the etiological variability associated with phenotypic expression of EF. In 22q11DS, EF deficits are, at least in part, the consequence of the deletion on chromosome 22. However, the expression of EF phenotype in 22q11DS varies and is possibly influenced by certain risk factors that occur at increased rates in this population. As such, 22q11DS allows us to study the impact of these factors on EF in the context of one underlying genetic etiology.

This review shows that inhibition and shifting are impaired in children with 22q11DS, while updating may be spared in childhood. Notably, EF deficits are found in this population after controlling for intellectual abilities, supporting the hypothesis that EF and intelligence do not reflect the same construct. Current evidence suggests that risk factors previously identified in the general population, such as congenital heart defects or low socioeconomic status, may not impact EF in a similar way in 22q11DS. In the process of demonstrating how studying the 22q11DS population can inform and advance our understanding of EF development, we identify gaps in the literature and highlight opportunities for future research.

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从非典型发育中学习:22q11.2缺失综合征儿童和青少年执行功能的系统回顾
在这篇系统综述中,我们调查了一个选定人群的执行功能(EF):患有22q11.2缺失综合征(22q11DS)的儿童和青少年。通过减少与EF表型表达相关的病因变异性,研究一个选定的人群子集可以告知我们对典型发育的理解。在22q11DS中,EF缺失至少部分是22号染色体缺失的结果。然而,22q11DS中EF表型的表达有所不同,可能受到某些危险因素的影响,这些危险因素在该人群中发生率较高。因此,22q11DS使我们能够在一种潜在遗传病因的背景下研究这些因素对EF的影响。这篇综述表明,22q11DS患儿的抑制和转移功能受损,而在儿童期可能不会更新。值得注意的是,在控制了智力能力后,在这一人群中发现了EF缺陷,这支持了EF和智力不反映相同结构的假设。目前的证据表明,以前在普通人群中确定的风险因素,如先天性心脏缺陷或低社会经济地位,可能不会以类似的方式影响22q11DS的EF。在展示研究22q11DS人群如何能够告知和促进我们对EF发展的理解的过程中,我们发现了文献中的空白,并强调了未来研究的机会。
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来源期刊
Developmental Review
Developmental Review PSYCHOLOGY, DEVELOPMENTAL-
CiteScore
11.00
自引率
3.00%
发文量
27
审稿时长
51 days
期刊介绍: Presenting research that bears on important conceptual issues in developmental psychology, Developmental Review: Perspectives in Behavior and Cognition provides child and developmental, child clinical, and educational psychologists with authoritative articles that reflect current thinking and cover significant scientific developments. The journal emphasizes human developmental processes and gives particular attention to issues relevant to child developmental psychology. The research concerns issues with important implications for the fields of pediatrics, psychiatry, and education, and increases the understanding of socialization processes.
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