Overlaps between autism and language impairment: phenomimicry or shared etiology?
Overlaps between autism and language impairment: phenomimicry or shared etiology?
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DOI：
10.1007/s10519-010-9381-x
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发表时间：
2010-09
影响因子：
2.6
通讯作者：
Bishop, D. V. M.
中科院分区：
文献类型：
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作者：
Bishop, D. V. M.
传统上，自闭症谱系障碍 (ASD) 和特定语言障碍 (SLI) 被视为具有不同病因的不同病症。然而，这些疾病同时发生的几率高于偶然水平，表明有共同的病因。然而，模拟表明，加性多效性基因不能解释观察到的亲属语言障碍发生率，患有 SLI 的先证者比患有 ASD + 语言障碍的先证者更高。另一种解释是“表象学”，即共病病例中的语言障碍可能是 ASD 风险因素的结果，与 SLI 中看到的情况不同。然而，这无法解释为什么分子遗传学研究发现了 ASD 和 SLI 的共同风险基因型。本文探讨了非加性遗传影响是否可以解释家族和分子发现。涉及 G × G 相互作用的修改模拟获得了与观察值更一致的亲属的共病水平和损伤率。模拟进一步表明，不同基因型的表型性状得分的分布形状可以提供基因是否参与上位性的证据。
Traditionally, autistic spectrum disorder (ASD) and specific language impairment (SLI) are regarded as distinct conditions with separate etiologies. Yet these disorders co-occur at above chance levels, suggesting shared etiology. Simulations, however, show that additive pleiotropic genes cannot account for observed rates of language impairment in relatives, which are higher for probands with SLI than for those with ASD + language impairment. An alternative account is in terms of ‘phenomimicry’, i.e., language impairment in comorbid cases may be a consequence of ASD risk factors, and different from that seen in SLI. However, this cannot explain why molecular genetic studies have found a common risk genotype for ASD and SLI. This paper explores whether nonadditive genetic influences could account for both family and molecular findings. A modified simulation involving G × G interactions obtained levels of comorbidity and rates of impairment in relatives more consistent with observed values. The simulations further suggest that the shape of distributions of phenotypic trait scores for different genotypes may provide evidence of whether a gene is involved in epistasis.
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影响因子：
4
作者：
Bill, Brent R.;Geschwind, Daniel H.
通讯作者：
Geschwind, Daniel H.
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