男孩被诊断自闭症几率是女孩四倍

Why do boys get diagnosed with autism four times as often as girls?

为什么男孩被诊断出患有自闭症的几率是女孩的四倍？

New research, including some of the latest data from the International Society for Autism Research annual conference last week, addresses this question, one of the biggest mysteries in this field. A growing consensus is arguing that sex differences exist in genetic susceptibility, brain development and social learning in autism -- and they are meaningful to our understanding of the disorder and how it will be treated.

新近的一项研究对自闭症领域中这个最大的谜团之一进行了论证，该研究涵括了来自2013年国际自闭症研究协会(International Society for Autism Research)年度会议的一些最新数据。一个日益达成的共识是，在自闭症患者的遗传易感性、大脑发育和社会学习这些方面都存在着性别差异，这对我们了解自闭症、该如何对症下药意义深远。

Yale University researchers presented results showing that being female appears to provide genetic protection against autism. Meanwhile, scientists at Emory University showed in preliminary work that boys and girls with autism learn social information differently, which leads to divergent success in interactions with other people.

耶鲁大学(Yale University)研究人员展示的结果显示，女性自身似乎会针对自闭症提供一种基因上的防护。与此同时，埃默里大学(Emory University)的科学家在初期研究中发现，患有自闭症的男孩和女孩在了解社会信息方面的表现并不相同，这就导致了他们在与他人互动的效果上也会有差别。

The new data, together with previously published studies, suggest that sex should be taken into account in diagnosing and in creating individualized treatment plans, according to experts.

专家们称，最新的数据与之前发表的研究都表明，在自闭症诊断和制定个性化治疗方案时，性别差异这一因素都应该考虑进去。

Autism, a developmental disorder characterized by deficits in social skills and repetitive behaviors, affects more than 1% of the population. It has long been known to be diagnosed more often in boys.

自闭症是一种发育障碍性疾病，其症状是存在社交技巧障碍及重复刻板的行为方式。全球有超过1%的人患有自闭症。长期以来，人们认为这种病在男孩身上更为常见。

Yet girls often appear to have more severe autism. The ratio, about four boys to every one girl overall, becomes even more lopsided when intelligence is taken into account. At higher intelligence levels, boys with autism often outnumber girls eight or 10 to one, say researchers.

然而，患有自闭症的女孩其症状一般较男孩更为严重。全球来看，自闭症患者的男女比例约为四比一，若将智力因素考虑进去，该比值将会更失衡。研究人员称，在智力水平较高的年龄层中，这个比例通常为八比一到十比一。

Why this ratio exists and how much it is skewed by misdiagnosis or underdiagnosis in girls isn't clear. More and more, however, scientists think the sex distribution is meaningful.

为什么会有这样的比例存在？有多少女孩是被误诊了或是医生未能作出全面的诊断？这些问题目前都不得而知。尽管如此，还是有越来越多的科学家认为，这种性别分布意义重大。

'It's such an important biological clue -- why do we have this excess in boys?' said Geraldine Dawson, the chief science officer of Autism Speaks, a research funding and advocacy group.

研究基金和倡导组织自闭症之声(Autism Speaks)的首席科学长杰拉尔丁•道森(Geraldine Dawson)说：“这是一个非常重要的生物学线索──为什么男孩的患病率会超出女孩这么多？”

Sex differences in autism and related disorders were relatively ignored until recently and still aren't well understood. The small number of girls who have the disorder meant that studies often didn't include enough girls to be able to reliably examine sex differences. Often, girls were excluded from studies altogether.

表现在自闭症及相关疾病上的性别差异相对而言一直被人忽略，直到最近才得到关注，但人们仍未透彻地了解它。患有此病的女孩数量如此之少，这意味着众多研究一般没有囊括足够多的女孩，其在性别差异方面的分析也就不太可信。通常情况下，这些研究都将女孩完全排除在外。

Understanding sex differences is important to getting the right diagnosis and treatment, said Christopher Gillberg, a child and adolescent psychiatry professor at the University of Gothenburg in Sweden. Because experts' understanding of the typical features of the condition is primarily based on research with boys, girls may be missed or misdiagnosed, he said. Some evidence suggests that girls are diagnosed, on average, later than boys.

瑞典哥德堡大学(University of Gothenburg)儿童与青少年精神病学教授克里斯托弗•吉尔伯格(Christopher Gillberg)说，了解性别差异对作出正确的诊断和治疗至关重要。他说，因为专家们对该病典型特征的了解主要基于对男孩们的研究，女孩可能就会被漏诊或误诊。一些证据表明，女孩比男孩的平均确诊时间要晚一些。

In addition, the clinical picture for children with an autism-spectrum disorder is often complex. Most have other conditions as well, like attention-deficit hyperactivity disorders, sleep problems or epilepsy, which may affect their functioning, Dr. Gillberg said.

吉尔伯格博士称，除此之外，患有自闭症谱系障碍的儿童，其临床现象通常也比较复杂。大多数孩子还患有其他疾病，像注意力缺陷多动症、睡眠问题或癫痫症，这些都可能影响他们的身体机能。

He and his colleagues evaluated 100 girls between the ages of 3 and 18 who had social or attention deficits. Forty-seven were diagnosed with autism. As well, 80% of those with autism also could be diagnosed with ADHD. Virtually all the girls had depression, anxiety and family relationship problems.

吉尔伯格和他的同事对100名存在社交障碍或注意力障碍的三到18岁女孩进行了检查。有47名女孩被诊断出患有自闭症，她们中又有80%的人可能同时患有注意力缺陷多动症。几乎所有的女孩都有抑郁症、焦虑症和家庭关系问题。

Understanding sex differences also has implications for elucidating the condition more broadly. Experts speculated that perhaps boys were somehow more vulnerable to autism because of, for instance, genes, hormones or different ways their brains are wired.

了解性别差异还能给人带来一些启示，以便从更广泛的层面上去阐述自闭症。专家推测，男孩可能会更容易患上自闭症，这也许是基因、激素使然，也可能是他们的脑部构造方式不同。

From a genetic standpoint, however, there is growing evidence that boys aren't more susceptible to autism, but rather girls are more protected from it. Yale researchers added to this thinking with new findings presented last week in which they looked at the DNA of several thousand children with autism.

尽管如此，从基因的角度来看，越来越多的证据表明，并不是说男孩比女孩更易染上自闭症，而是女孩受到了更多的保护，使其免于自闭症的侵扰。耶鲁大学的研究人员在查看了几千名自闭症儿童的DNA后于近期得出的新发现也进一步证实了上述说法。

They found that girls actually had substantially more high-risk genetic mutations associated with autism than boys, on average twice as many. Yet, because girls develop autistic features less often, something about being female is protective against the condition, said Stephan Sanders, a postdoctoral fellow at Yale University who presented the work.

他们发现，事实上，与男孩子相比，女孩子大体上拥有更多与自闭症相关的高危基因突变，其平均值是男孩的两倍。进行展示的耶鲁大学博士后斯蒂芬•桑德斯(Stephan Sanders)说，尽管如此，女孩子却不太会表现出自闭症症状，这是因为一些与女性性别相关的东西会使其免受该疾病的侵扰。

The Yale scientists then wondered if the males and females might actually be experiencing two distinct disorders at the genetic level. But further research led them to conclude that boys and girls appear to be suffering from the same ailment, Mr. Sanders said.

接着，耶鲁大学的科研人员开始质疑会不会是男性和女性在基因层面上经历了两种截然不同的疾病。桑德斯说，但进一步的研究引领他们得出了这样的结论：男孩和女孩显然受到的是同一种疾病的困扰。

There is also early evidence that even though boys and girls may have the same condition, the way they process information could lead to different outcomes. For instance, studies of social learning, the core process that appears affected in children with autism-spectrum disorders, have found differences between the two sexes.

况且之前的证据也表明，就算男孩和女孩患上的可能是同样一种病，他们处理信息的方式也可能会导致不同的结果产生。举例而言，有关社会学习的研究发现，社会学习──这一似乎是影响自闭症谱系障碍儿童的核心过程──在男性和女性身上的表现就并不相同。

Kids with autism tend to look more at people's mouths, while typically developing children look more at the eyes, Ami Klin, head of Emory University's and Children's Healthcare of Atlanta's Marcus Autism Center, and others have found. The thinking was that eyes tend to provide a lot of social information, such as emotion or interest, and the kids with autism miss out on a lot of this information, which contributes to their social impairment in interactions with others.

埃默里大学和亚特兰大儿童健康中心马库斯自闭症中心(Emory University's and Children's Healthcare of Atlanta's Marcus Autism Center)的负责人亚美•克林(Ami Klin)及其他工作人员发现，患有自闭症的孩子更倾向于看着人们的嘴巴，而正常发育中的儿童则会更多地关注人的眼睛。道理是这样的：眼睛更易提供大量的社会信息，比如情感或兴趣。而自闭症儿童却漏掉了这大把的信息，这也是他们在与他人互动时会出现社交障碍的原因之一。

But in new work, Marcus researchers are comparing sex differences in eye gaze in typically developing children and those with autism, and have been surprised by the findings. The scientists showed six film clips involving social interactions, like boys playing baseball or kids chatting, to 52 boys and 18 girls with autism as well as to 26 and 36 typically developing boys and girls, respectively. Using eye-tracking technology, they were able to capture where on the screen children looked during the entire clip.

在最新的工作中，马库斯的研究人员正在比较不同性别间发育正常的儿童和自闭症儿童的眼睛注视情况，结果却出人意料。科学家分别向患有自闭症的52名男孩、18名女孩和发育正常的26名男孩、36名女孩放映了六段涉及社交互动情节的电影片段，比如一群男孩在打棒球或是一群孩子在聊天。通过使用眼球追踪技术，科研人员能够捕捉到孩子们的目光在整个播放时段都停留在了屏幕上的哪个地方。

Overall, both girls and boys with autism looked less often at the eyes compared with typically developing kids, consistent with previous studies. The amount of eye contact from the boys related directly to their overall level of social disability. Boys who looked less at the eyes were more socially disabled.

总体来说，不论男女，与发育正常的孩子相比，自闭症儿童更少将目光停留在眼部，这与之前的诸多研究结果一致。男孩的眼神交流总量与他们的社会功能缺陷总体水平直接相关。那些更少看别人眼睛的男孩在社交方面也更为困难一些。

Girls with autism, however, showed the opposite pattern: Those who focused relatively more to the eyes tended to experience worse social disability, said Jennifer Moriuchi, an Emory psychology graduate student.

埃默里大学心理学研究生詹妮弗•森内(Jennifer Moriuchi)说，但是患有自闭症的女孩却表现出一套相反的模式：那些相对更专注他人眼睛的女生，其社会功能缺陷一般更为严重。

The team found significant differences in timing of when girls or boys would look at the eyes, suggesting they aren't following the same cues.

这个团队发现，男孩和女孩在看他人眼睛的时候，目光停留的时间有着显著的不同。这表明，他们并未依循同样的模式。

The group is continuing with its work to understand these differences in engagement with the eyes, which highlights just how little is known about how autism manifests in girls, said Warren Jones, research head at the center.

该中心研究负责人沃伦•琼斯(Warren Jones)说，这个小组在继续探寻、理解男孩女孩在眼神交流方面的这些不同，而这又凸显出了我们在女孩自闭症病症上的无知。

'We tended to assume that boys and girls [with autism] do the same thing when they adjust to everyday life,' Dr. Klin said. 'There's emerging evidence that it's to the contrary.'

克林博士说：“我们过去倾向于假设（患有自闭症的）男孩和女孩在适应日常生活时应该会做相同的事。但现在新的证据表明，情况正好相反。”