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携带单胺氧化酶A基因启动子区域低活性等位基因*2R的男孩是否存在认知和学习障碍?

Do boys with MAOA_LPR*2R allele present cognitive and learning impairments?

作者信息

Silva Emanuelle de Oliveira, de Carvalho André Henrique Barbosa, Paiva Giulia Moreira, Jorge Carolina Andrade, Koltermann Gabriella, de Salles Jerusa Fumagalli, Haase Vitor Geraldi, Carvalho Maria Raquel Santos

机构信息

Universidade Federal de Minas Gerais, Instituto de Ciências Biológicas, Programa de Pós-graduação em Neurociências, Belo Horizonte MG, Brazil.

Universidade Federal de Minas Gerais, Ecologia e Evolução, Instituto de Ciências Biológicas, Programa de Pós-Graduação em Genética, Departamento de Genética, Belo Horizonte MG, Brazil.

出版信息

Dement Neuropsychol. 2022 Apr-Jun;16(2):162-170. doi: 10.1590/1980-5764-DN-2021-0071. Epub 2022 May 13.

Abstract

UNLABELLED

Monoamine oxidase A () polymorphisms have been associated with antisocial disorders. Less attention has been paid to the cognitive functioning of individuals with different alleles. No study has described the cognitive phenotype associated with the less frequent, low enzyme activity allele, MAOA_LPR*2R.

OBJECTIVE

We describe the cognitive correlates of boys having MAOA_LPR*2R allele, ascertained in a sample of school children with normal intelligence, not referred for behavioral disorders.

METHODS

Participants were eight boys, attending from the second to fifth grades in state-run schools. They were identified among 712 children with typical general cognitive ability, genotyped for MAOA_LPR polymorphism. Participants were assessed with general intelligence, mathematics and spelling achievement, and verbal and visuospatial working memory tests. Neuropsychological performance was compared to published standards, using 1 SD below the mean as a cutoff value for low performance.

RESULTS

Intelligence of boys with MAOA_LPR2R allele varied from above average (N=2) to low average in the other children. Five out of eight boys with the MAOA_LPR2R allele had low mathematics achievement, and three presented additional difficulties with spelling. Four out of eight children had low short-term and working memory performance.

DISCUSSION

This is the first study describing cognitive correlates and school performance in boys having the MAOA_LPR*2R allele. Having this allele, and therefore, probably low MAO-A activity, does not necessarily imply low intelligence or low school performance. However, learning difficulties, particularly in math, and low working memory performance were observed in boys having this allele. This suggests a role of in learning difficulties.

摘要

未标注

单胺氧化酶A()基因多态性与反社会障碍有关。对于具有不同等位基因个体的认知功能关注较少。尚无研究描述与频率较低、酶活性低的等位基因MAOA_LPR*2R相关的认知表型。

目的

我们描述了具有MAOA_LPR*2R等位基因男孩的认知相关性,该研究在智力正常、未因行为障碍转诊的学童样本中进行。

方法

参与者为8名在公立学校二至五年级就读的男孩。他们是在712名具有典型一般认知能力、进行了MAOA_LPR基因多态性基因分型的儿童中确定的。对参与者进行了一般智力、数学和拼写成绩以及言语和视觉空间工作记忆测试。将神经心理学表现与已发表的标准进行比较,以低于平均值1个标准差作为低表现的临界值。

结果

具有MAOA_LPR2R等位基因男孩的智力从高于平均水平(N = 2)到其他儿童中的低平均水平不等。8名具有MAOA_LPR2R等位基因的男孩中有5名数学成绩低,3名在拼写方面还有其他困难。8名儿童中有4名短期和工作记忆表现低。

讨论

这是第一项描述具有MAOA_LPR*2R等位基因男孩的认知相关性和学业成绩的研究。拥有这个等位基因,因此可能MAO - A活性低,并不一定意味着智力低或学业成绩低。然而,在拥有这个等位基因的男孩中观察到学习困难,特别是在数学方面,以及工作记忆表现低。这表明在学习困难中起作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f96a/9173787/69b520e95399/1980-5764-dn-1980-5764-dn-2021-0071-gf1.jpg

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