Rutter M
Institute of Psychiatry, Kings College, London, UK.
Acta Paediatr. 2005 Jan;94(1):2-15. doi: 10.1111/j.1651-2227.2005.tb01779.x.
Several reviews have noted a huge increase in the rate of diagnosed autism spectrum disorders. The main aims of this paper are: 1) to use published empirical findings to consider whether the rise reflects a true increase in incidence, as distinct from the consequences of better ascertainment and a broadening of the diagnostic concept; and 2) to consider how epidemiological data may be used to test hypotheses about possible causal influences, using MMR and thimerosal as examples.
Search of the literature for studies with a large epidemiological base population, systematic standardized screening, a focus on an age group for which diagnostic assessments are reliable and valid, and diagnosis by trained professionals using high-quality research assessments. Also, search of a broader literature to consider the evidence from all epidemiological studies with respect to the hypothesized causal effect of MMR and thimerosal on autism spectrum disorders.
The true incidence of autism spectrum disorders is likely to be within the range of 30-60 cases per 10 000, a huge increase over the original estimate 40 years ago of 4 per 10000. The increase is largely a consequence of improved ascertainment and a considerable broadening of the diagnostic concept. However, a true risk due to some, as yet to be identified, environmental risk factor cannot be ruled out. There is no support for the hypothesis for a role of either MMR or thimerosal in causation, but the evidence on the latter is more limited.
Progress in testing environmental risk hypotheses will require the integration of epidemiological and biological studies.
多项综述指出，自闭症谱系障碍的诊断率大幅上升。本文的主要目的是：1）利用已发表的实证研究结果，探讨这种上升是否反映了发病率的真实增加，而非更好的确诊率和诊断概念拓宽的结果；2）以麻疹、腮腺炎、风疹三联疫苗（MMR）和硫柳汞为例，探讨如何利用流行病学数据来检验关于可能因果影响的假设。
检索文献，查找具有大量流行病学基础人群、系统标准化筛查、关注诊断评估可靠有效的年龄组，以及由训练有素的专业人员使用高质量研究评估进行诊断的研究。此外，检索更广泛的文献，以考虑所有流行病学研究中关于MMR和硫柳汞对自闭症谱系障碍假设因果效应的证据。
自闭症谱系障碍的真实发病率可能在每10000例中有30 - 60例，与40年前最初估计的每10000例4例相比大幅增加。这种增加很大程度上是确诊率提高和诊断概念大幅拓宽的结果。然而，不能排除某些尚未确定的环境风险因素导致的真正风险。没有证据支持MMR或硫柳汞在病因学中起作用的假设，但关于后者的证据更为有限。
检验环境风险假设的进展将需要流行病学和生物学研究的整合。
