Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders.
Dosage effects of X and Y chromosomes on language and social functioning in children with supernumerary sex chromosome aneuploidies: implications for idiopathic language impairment and autism spectrum disorders.
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DOI：
10.1111/j.1469-7610.2012.02573.x
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发表时间：
2012-10
期刊：
影响因子：
--
通讯作者：
Giedd JN
中科院分区：
文献类型：
--
作者：
Lee NR;Wallace GL;Adeyemi EI;Lopez KC;Blumenthal JD;Clasen LS;Giedd JN
额外的性染色体非整倍体（X/Y-非整倍体），即额外 X 和/或 Y 染色体的存在，与语言障碍和社交困难的发生率升高有关。然而，还没有一项研究对具有三体、四体和五体 X/Y 非整倍体的儿童的同一样本中的不同语言域和社会功能进行了检查。当前的研究试图填补文献中的这一空白，并检查 X 和 Y 染色体对语言和社会功能的剂量效应。参与者包括 110 名具有 X/Y 非整倍体的青少年（32 名女性）和 52 名具有典型发育的青少年（25 名女性），年龄（平均~12 岁；范围 4-22）和母亲教育程度相匹配。参与者完成了韦克斯勒智力量表，家长完成了儿童沟通量表2和社会反应量表，分别评估语言技能和自闭症特征。多余的 X 染色体和 Y 染色体都与结构和语用语言技能下降以及自闭症特征增加有关。 Y染色体的添加对实用语言产生了不成比例的更大影响；一条或多条 X 染色体的添加对结构语言的影响要大得多。鉴于我们将额外的 X 染色体与结构性语言障碍联系起来，而额外的 Y 染色体与语用语言障碍联系起来，X/Y 非整倍体可能为导致特发性语言障碍和自闭症谱系障碍的遗传机制提供线索。
Supernumerary sex chromosome aneuploidies (X/Y-aneuploidies), the presence of extra X- and/or Y-chromosomes, are associated with heightened rates of language impairments and social difficulties. However, no single study has examined different language domains and social functioning in the same sample of children with tri-, tetra-, and pentasomy X/Y-aneuploidy. The current research sought to fill this gap in the literature and to examine dosage effects of X- and Y-chromosomes on language and social functioning. Participants included 110 youth with X/Y-aneuploidies (32 female) and 52 with typical development (25 female) matched on age (mean~12 years; range 4–22) and maternal education. Participants completed the Wechsler intelligence scales and parents completed the Children’s Communication Checklist-2 and the Social Responsiveness Scale to assess language skills and autistic traits, respectively. Both supernumerary X- and Y-chromosomes were related to depressed structural and pragmatic language skills and increased autistic traits. The addition of a Y-chromosome had a disproportionately greater impact on pragmatic language; the addition of one or more X-chromosomes had a disproportionately greater impact on structural language. Given that we link extra X-chromosomes with structural language impairments and an extra Y-chromosome with pragmatic language impairments, X/Y-aneuploidies may provide clues to genetic mechanisms contributing to idiopathic language impairment and autism spectrum disorders.
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DOI：
10.1111/j.1469-7610.2004.00266.x
发表时间：
2004-05-01
影响因子：
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DOI：
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发表时间：
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影响因子：
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