The power and promise of identifying autism early: insights from the search for clinical and biological markers.
The power and promise of identifying autism early: insights from the search for clinical and biological markers.
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发表时间：
2009-07
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通讯作者：
K. Pierce;S. Glatt;G. Liptak;L. L. McIntyre-L.
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作者：
K. Pierce;S. Glatt;G. Liptak;L. L. McIntyre-L.
导致自闭症的生物学变化可能发生在产前生活中。虽然在过去的十年中已经发现了这种疾病，但诊断的平均年龄仍然不是在平均3岁之前。这是因为自闭症仍然是一种行为定义的疾病，对可以做出自信诊断的年龄施加了限制。3岁之前自闭症的生物学基础的研究是必不可少的，可以最直接地通过前瞻性研究设计来实现。方法讨论了有关自闭症早期识别的文献，包括社交症状出现的时间尺度。还讨论了一种新的自闭症前瞻性研究方法，称为“1年健康婴儿检查方法”，该方法允许对12个月大的婴儿的单纯家庭进行自闭症前瞻性研究。虽然可能存在于微妙的，亚临床水平，早期的社会异常是不明确的检测之前，12个月的年龄在婴儿后来被诊断为自闭症谱系障碍。结论：使用1年健康婴儿检查方法或其他前瞻性设计，检查与早期大脑过度生长，小脑发育，基因表达模式和免疫系统功能相关的早期生物标志物可能是3岁以下早期诊断工作的关键。我们也注意到比较和对比孤独症的早期“签名”的重要性，在独生子女与多子女家庭，这可能是病因不同。
BACKGROUND The biological changes that lead to autism likely occur during prenatal life. Although earlier identification of the disorder has occurred within the past decade, the mean age of diagnosis is still not made before a mean age of 3 years. This is because autism remains a behaviorally defined disorder, placing limits on the age at which a confident diagnosis can be made. The study of the biological basis of autism prior to age 3 is essential and can most directly be achieved with prospective research designs. METHODS The literature on the early identification of autism is discussed, including the timescale for the onset of social symptoms. Also discussed is a new method for the prospective study of autism called the "1-Year Well-Baby Check-Up Approach," which allows for the prospective study of the disorder in simplex families with infants as young as 12 months of age. RESULTS Although likely present at subtle, subclinical levels, early social abnormalities are not clearly detectable prior to 12 months in age in infants later diagnosed as having autism spectrum disorder. CONCLUSIONS Using the 1-Year Well-Baby Check-Up Approach or other prospective design, examining early biomarkers related to early brain overgrowth, cerebellar development, gene expression patterns and immune system function may be key to early diagnosis efforts under 3 years. We also note the importance of comparing and contrasting the early "signature" of autism in children from singleton versus multiplex families, which may be etiologically distinct.