Head circumferences in twins with and without Autism Spectrum Disorders.
Head circumferences in twins with and without Autism Spectrum Disorders.
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DOI：
10.1007/s10803-012-1751-1
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发表时间：
2013-09
影响因子：
3.9
通讯作者：
Hallmayer J
中科院分区：
文献类型：
--
作者：
Froehlich W;Cleveland S;Torres A;Phillips J;Cohen B;Torigoe T;Miller J;Fedele A;Collins J;Smith K;Lotspeich L;Croen LA;Ozonoff S;Lajonchere C;Grether JK;Hallmayer J
目的：探讨头围（HC）与自闭症谱系障碍（ASDs）的遗传关系。对至少有一个双胞胎患有自闭症谱系障碍的双胞胎进行评估。比较了受影响个体和未受影响个体的HC，以及同卵和异卵对的HC相关性。404名受试者，年龄4-18岁。20%的男性和27%的女性ASD患者有大头畸形。未受影响的同卵双胞胎也有类似的比率（15%的男性和22%的女性）。统计分析显示，患病双胞胎和未患病双胞胎之间的HCs没有显著差异。患有asd的双胞胎和未受影响的双胞胎有相似的hc和较大头畸形的发生率。相关性表明hcc存在部分遗传。因此，大头畸形可能代表asd的一种内表型。
To determine the genetic relationship between head circumference (HC) and Autism Spectrum Disorders (ASDs). Twin pairs with at least one twin with an ASD were assessed. HCs in affected and unaffected individuals were compared, as were HC correlations in monozygotic and dizygotic pairs. 404 subjects, ages 4–18, were included. 20 % of males and 27 % of females with an ASD had macrocephaly. Unaffected co-twins showed similar rates (15 % of males and 22 % of females). Statistical analysis revealed no significant difference in HCs between affected and unaffected twins. Twins with ASDs and unaffected co-twins have similar HCs and increased rates of macrocephaly. Correlations demonstrated partial inheritance of HCs. Thus, macrocephaly may represent an endophenotype in ASDs.
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