Child and Adolescent Psychiatry, Department of Psychiatry, School of Medicine, Stanford University, Stanford, CA 94305, USA.
J Autism Dev Disord. 2013 Sep;43(9):2026-37. doi: 10.1007/s10803-012-1751-1.
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 (16 % 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.
为了确定头围（HC）和自闭症谱系障碍（ASD）之间的遗传关系。评估了至少有一对双胞胎中一个患有 ASD 的双胞胎。比较了受影响和未受影响个体的 HC，以及同卵和异卵双胞胎的 HC 相关性。共纳入 404 名年龄在 4-18 岁的受试者。20%的男性和 27%的女性 ASD 患者存在头围过大。未受影响的同卵双胞胎也有类似的比例（男性 16%，女性 22%）。统计分析显示，受影响和未受影响的双胞胎之间的 HC 没有显著差异。患有 ASD 的双胞胎和未受影响的同卵双胞胎的 HC 相似，并且头围过大的发生率增加。相关性表明 HC 存在部分遗传。因此，头围过大可能是 ASD 的一种内表型。
