IntegraGen , Evry , France ; Department of Child and Adolescent Psychiatry, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Université Pierre et Marie Curie , Paris , France.
IntegraGen Inc. , Cambridge, MA , USA.
Front Pediatr. 2014 Apr 23;2:32. doi: 10.3389/fped.2014.00032. eCollection 2014.
There are many societal and cultural differences between healthcare systems and the use of genetic testing in the US and France. These differences may affect the diagnostic process for autism spectrum disorder (ASD) in each country and influence parental opinions regarding the use of genetic screening tools for ASD.
Using an internet-based tool, a survey of parents with at least one child with ASD was conducted. A total of 162 participants from the US completed an English version of the survey and 469 participants from France completed a French version of the survey. Respondents were mainly females (90%) and biological parents (94.3% in the US and 97.2% in France).
The mean age of ASD diagnosis reported was not significantly different between France (57.5 ± 38.4 months) and the US (56.5 ± 52.7 months) (p = 0.82) despite significant difference in the average age at which a difference in development was first suspected [29.7 months (±28.4) vs. 21.4 months (±18.1), respectively, p = 7 × 10(-4)]. Only 27.8% of US participants indicated that their child diagnosed with ASD had undergone diagnostic genetic testing, whereas 61.7% of the French participants indicated this was the case (p = 2.7 × 10(-12)). In both countries, the majority of respondents (69.3% and 80% from France and the US, respectively) indicated high interest in the use of a genetic screening test for autism.
Parents from France and the US report a persistent delay between the initial suspicion of a difference in development and the diagnosis of ASD. Significantly fewer US participants underwent genetic testing although this result should be regarded as exploratory given the limitations. The significance of these between country differences will be discussed.
美国和法国的医疗体系和基因检测的使用存在许多社会和文化差异。这些差异可能会影响两国自闭症谱系障碍（ASD）的诊断过程，并影响父母对 ASD 遗传筛查工具使用的看法。
使用基于互联网的工具，对至少有一名 ASD 儿童的父母进行了调查。共有 162 名来自美国的参与者完成了英文版调查，469 名来自法国的参与者完成了法语版调查。受访者主要为女性（90%）和亲生父母（美国为 94.3%，法国为 97.2%）。
法国（57.5±38.4 个月）和美国（56.5±52.7 个月）报告的 ASD 诊断平均年龄无显著差异（p=0.82），尽管首次怀疑发育差异的平均年龄存在显著差异[29.7 个月（±28.4）比 21.4 个月（±18.1），p=7×10（-4）]。只有 27.8%的美国参与者表示其被诊断为 ASD 的孩子接受了诊断性基因检测，而 61.7%的法国参与者表示接受了这种检测（p=2.7×10（-12））。在这两个国家，大多数受访者（法国和美国分别为 69.3%和 80%）表示对使用基因筛查测试来诊断自闭症非常感兴趣。
法国和美国的父母报告称，从首次怀疑发育差异到诊断 ASD 之间存在持续的延迟。尽管鉴于存在局限性，该结果应被视为探索性的，但接受基因检测的美国参与者明显较少。两国之间这些差异的意义将进行讨论。
