Control groups in paediatric epilepsy research: do first-degree cousins show familial effects?

Control groups in paediatric epilepsy research: do first-degree cousins show familial effects?
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DOI:
10.1684/epd.2017.0898
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发表时间:
2017-03-01
期刊:
Epileptic disorders : international epilepsy journal with videotape
影响因子:
--
通讯作者:
Hermann BP
Hermann BP
中科院分区:
其他
文献类型:
--
作者:
Hanson M;Morrison B;Jones JE;Jackson DC;Almane D;Seidenberg M;Zhao Q;Rathouz PJ;Hermann BP

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确定患有特发性局灶性和遗传性全身性癫痫(病例)的儿童的一级表兄弟姐妹是否在认知、行为和大脑结构的测量中显示出任何关联。关联的存在/不存在解决了这样的问题:在解决小儿癫痫的认知、精神和神经影像学特征的研究中,一级表亲是否以及在何种程度上可以作为无偏见的对照。参与者是患有癫痫的儿童(8 - 18 岁),他们至少有一个一级堂兄弟姐妹参加了研究(n = 37),并且所有参加的堂兄弟姐妹(n = 100)。参与者接受了神经心理学评估、脑成像(皮质、皮质下和小脑体积),家长填写了儿童行为检查表(CBCL)。来自表亲对照的数据(42 个结果测量)在线性混合模型中对相应的癫痫认知、行为和影像测量进行回归,并检查病例-对照相关性。在涉及认知、行为和神经影像测量的 42 个未经校正的相关性中,只有 2 个具有显着性(p <0.05)。相关性中位数为 0.06。在无关联的情况下,检验 p 值分布是否偏离零分布并不显着 (p>0.25)。认知/行为和大脑成像测量也得到了类似的结果。鉴于病例与一级表亲在认知、行为和神经影像学方面的表现之间缺乏关联,结果表明遗传对对照组表现的影响不显着。一级表兄弟似乎是小儿癫痫认知、行为和神经影像研究的无偏见对照。
To determine whether the first degree cousins of children with idiopathic focal and genetic generalized epilepsies (cases) show any association across measures of cognition, behavior and brain structure. The presence/absence of associations addresses the question of whether and to what degree first degree cousins may serve as unbiased controls in research addressing the cognitive, psychiatric, and neuroimaging features of pediatric epilepsies. Participants were children (age 8 – 18) with epilepsy who had at least one first-degree cousin control enrolled in the study (n=37) and all enrolled cousin controls (n=100). Participants underwent neuropsychological assessment, brain imaging (cortical, subcortical and cerebellar volumes) and parents completed the Child Behavior Checklist (CBCL). Data (42 outcome measures) from cousin controls were regressed on the corresponding epilepsy cognitive, behavioral and imaging measures in a linear mixed model and case – control correlations were examined. Of the 42 uncorrected correlations involving cognitive, behavioral and neuroimaging measures, only 2 were significant (p <0.05). The median correlation was 0.06. A test for whether the distribution of p-values deviated from the null distribution under no association was not significant (p>0.25). Similar results held for the cognition/behavior and brain imaging measures separately. Given the lack of association between cases and first degree cousin performances on measures of cognition, behavior and neuroimaging, the results suggest a non-significant genetic influence on control group performance. First -degree cousins appear to be unbiased controls for cognitive, behavioral, and neuroimaging research in pediatric epilepsy.
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