Early developmental impact of sex chromosome trisomies on attention deficit-hyperactivity disorder symptomology in young children.

Early developmental impact of sex chromosome trisomies on attention deficit-hyperactivity disorder symptomology in young children.
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DOI:
10.1002/ajmg.a.62418
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发表时间:
2021-12
影响因子:
2
通讯作者:
van Rijn, Sophie
van Rijn, Sophie
中科院分区:
生物学3区
文献类型:
--
作者:
Kuiper, Kimberly;Swaab, Hanna;Tartaglia, Nicole;van Rijn, Sophie

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性染色体三体([SCT],XXX,XXY和XYY)的个体患神经发育问题的风险增加,因为性染色体基因的很大一部分影响大脑功能。精神病理学的风险也有所增加,包括注意力缺陷多动障碍(ADHD)。本研究旨在确定ADHD的早期标志物,提供了第一个调查ADHD的神经病学在非常年幼的儿童SCT。使用ADHD症状和正常行为(SWAN)家长报告问卷的优点和缺点,将1-6岁SCT儿童(n = 104)的ADHD神经病学的种类,类型和严重程度与基于人群的对照组(n = 101)进行比较。与对照组相比,SCT中ADHD的发病率明显更高,并且从幼儿时期就已经存在。ADHD注意力不集中症状在所有核型(XXX,XXY和XYY)中均显著增加,XYY男孩也表现出比对照组显著更多的多动/冲动症状。与对照组相比,SCT组的注意力不集中随着年龄的增加而更加明显。在SCT组中,24%的儿童在临床水平上有显著升高的ADHD症状。从很小的时候开始,SCT就与ADHD的风险有关,这表明其神经发育风险取决于早期大脑成熟。研究这一基因脆弱人群,可以对风险标志物进行前瞻性研究,以促进早期预防干预。
Individuals with sex chromosome trisomies ([SCT], XXX, XXY, and XYY)) are at increased risk for neurodevelopmental problems, given that a significant portion of the sex chromosome genes impact brain functioning. An elevated risk for psychopathology has also been described, including attention deficit‐hyperactivity disorder (ADHD). The present study aimed at identifying early markers of ADHD, providing the first investigation of ADHD symptomology in very young children with SCT. The variety, type, and severity of ADHD symptomology in 1–6‐year‐old children with SCT (n = 104) were compared with population‐based controls (n = 101) using the strengths and weaknesses of ADHD symptoms and normal‐behavior (SWAN) parent‐report questionnaire. ADHD symptomology was significantly more prevalent in SCT and already present from toddlerhood on, compared to controls. ADHD inattention symptoms were significantly increased in all karyotypes (XXX, XXY, and XYY), boys with XYY also showed significantly more hyperactivity/impulsivity symptoms than controls. Inattentiveness was more pronounced with increasing age for SCT, in contrast to controls. Within the SCT group, 24% of the children had significantly elevated ADHD symptoms at a clinical level. Already from an early age on, SCT is associated with a risk for ADHD, suggesting that its neurodevelopmental risk lies anchored in early brain maturation. Studying this genetically vulnerable population allows for the prospective study of risk markers to facilitate early and preventive interventions.
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