男孩被診斷自閉症機率是女孩四倍
Why do boys get diagnosed with autism four times as often as girls?
爲什麼男孩被診斷出患有自閉症的機率是女孩的四倍？
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.
新近的一項研究對自閉症領域中這個最大的謎團之一進行了論證，該研究涵括了來自2013年國際自閉症研究協會(International Society for Autism Research)年度會議的一些最新數據。一個日益達成的共識是，在自閉症患者的遺傳易感性、大腦發育和社會學習這些方面都存在着性別差異，這對我們瞭解自閉症、該如何對症下藥意義深遠。
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.
耶魯大學(Yale University)研究人員展示的結果顯示，女性自身似乎會針對自閉症提供一種基因上的防護。與此同時，埃默裏大學(Emory University)的科學家在初期研究中發現，患有自閉症的男孩和女孩在瞭解社會信息方面的表現並不相同，這就導致了他們在與他人互動的效果上也會有差別。
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.
專家們稱，最新的數據與之前發表的研究都表明，在自閉症診斷和制定個性化治療方案時，性別差異這一因素都應該考慮進去。
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.
自閉症是一種發育障礙性疾病，其症狀是存在社交技巧障礙及重複刻板的行爲方式。全球有超過1%的人患有自閉症。長期以來，人們認爲這種病在男孩身上更爲常見。
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，患有自閉症的女孩其症狀一般較男孩更爲嚴重。全球來看，自閉症患者的男女比例約爲四比一，若將智力因素考慮進去，該比值將會更失衡。研究人員稱，在智力水平較高的年齡層中，這個比例通常爲八比一到十比一。
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.
爲什麼會有這樣的比例存在？有多少女孩是被誤診了或是醫生未能作出全面的診斷？這些問題目前都不得而知。儘管如此，還是有越來越多的科學家認爲，這種性別分佈意義重大。
'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.
研究基金和倡導組織自閉症之聲(Autism Speaks)的首席科學長傑拉爾丁•道森(Geraldine Dawson)說：“這是一個非常重要的生物學線索──爲什麼男孩的患病率會超出女孩這麼多？”
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.
表現在自閉症及相關疾病上的性別差異相對而言一直被人忽略，直到最近纔得到關注，但人們仍未透徹地瞭解它。患有此病的女孩數量如此之少，這意味着衆多研究一般沒有囊括足夠多的女孩，其在性別差異方面的分析也就不太可信。通常情況下，這些研究都將女孩完全排除在外。
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.
瑞典哥德堡大學(University of Gothenburg)兒童與青少年精神病學教授克里斯托弗•吉爾伯格(Christopher Gillberg)說，瞭解性別差異對作出正確的診斷和治療至關重要。他說，因爲專家們對該病典型特徵的瞭解主要基於對男孩們的研究，女孩可能就會被漏診或誤診。一些證據表明，女孩比男孩的平均確診時間要晚一些。
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.
吉爾伯格博士稱，除此之外，患有自閉症譜系障礙的兒童，其臨牀現象通常也比較複雜。大多數孩子還患有其他疾病，像注意力缺陷多動症、睡眠問題或癲癇症，這些都可能影響他們的身體機能。
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.
吉爾伯格和他的同事對100名存在社交障礙或注意力障礙的三到18歲女孩進行了檢查。有47名女孩被診斷出患有自閉症，她們中又有80%的人可能同時患有注意力缺陷多動症。幾乎所有的女孩都有抑鬱症、焦慮症和家庭關係問題。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.
瞭解性別差異還能給人帶來一些啓示，以便從更廣泛的層面上去闡述自閉症。專家推測，男孩可能會更容易患上自閉症，這也許是基因、激素使然，也可能是他們的腦部構造方式不同。
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.
儘管如此，從基因的角度來看，越來越多的證據表明，並不是說男孩比女孩更易染上自閉症，而是女孩受到了更多的保護，使其免於自閉症的侵擾。耶魯大學的研究人員在查看了幾千名自閉症兒童的DNA後於近期得出的新發現也進一步證實了上述說法。
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.
他們發現，事實上，與男孩子相比，女孩子大體上擁有更多與自閉症相關的高危基因突變，其平均值是男孩的兩倍。進行展示的耶魯大學博士後斯蒂芬•桑德斯(Stephan Sanders)說，儘管如此，女孩子卻不太會表現出自閉症症狀，這是因爲一些與女性性別相關的東西會使其免受該疾病的侵擾。
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，耶魯大學的科研人員開始質疑會不會是男性和女性在基因層面上經歷了兩種截然不同的疾病。桑德斯說，但進一步的研究引領他們得出了這樣的結論：男孩和女孩顯然受到的是同一種疾病的困擾。
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.
況且之前的證據也表明，就算男孩和女孩患上的可能是同樣一種病，他們處理信息的方式也可能會導致不同的結果產生。舉例而言，有關社會學習的研究發現，社會學習──這一似乎是影響自閉症譜系障礙兒童的核心過程──在男性和女性身上的表現就並不相同。
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.
埃默裏大學和亞特蘭大兒童健康中心馬庫斯自閉症中心(Emory University's and Children's Healthcare of Atlanta's Marcus Autism Center)的負責人亞美•克林(Ami Klin)及其他工作人員發現，患有自閉症的孩子更傾向於看着人們的嘴巴，而正常發育中的兒童則會更多地關注人的眼睛。道理是這樣的：眼睛更易提供大量的社會信息，比如情感或興趣。而自閉症兒童卻漏掉了這大把的信息，這也是他們在與他人互動時會出現社交障礙的原因之一。
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，馬庫斯的研究人員正在比較不同性別間發育正常的兒童和自閉症兒童的眼睛注視情況，結果卻出人意料。科學家分別向患有自閉症的52名男孩、18名女孩和發育正常的26名男孩、36名女孩放映了六段涉及社交互動情節的電影片段，比如一羣男孩在打棒球或是一羣孩子在聊天。通過使用眼球追蹤技術，科研人員能夠捕捉到孩子們的目光在整個播放時段都停留在了屏幕上的哪個地方。
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.
總體來說，不論男女，與發育正常的孩子相比，自閉症兒童更少將目光停留在眼部，這與之前的諸多研究結果一致。男孩的眼神交流總量與他們的社會功能缺陷總體水平直接相關。那些更少看別人眼睛的男孩在社交方面也更爲困難一些。
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.
埃默裏大學心理學研究生詹妮弗•森內(Jennifer Moriuchi)說，但是患有自閉症的女孩卻表現出一套相反的模式：那些相對更專注他人眼睛的女生，其社會功能缺陷一般更爲嚴重。
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.
這個團隊發現，男孩和女孩在看他人眼睛的時候，目光停留的時間有着顯著的不同。這表明，他們並未依循同樣的模式。
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.
該中心研究負責人沃倫•瓊斯(Warren Jones)說，這個小組在繼續探尋、理解男孩女孩在眼神交流方面的這些不同，而這又凸顯出了我們在女孩自閉症病症上的無知。
'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.'
克林博士說：“我們過去傾向於假設（患有自閉症的）男孩和女孩在適應日常生活時應該會做相同的事。但現在新的證據表明，情況正好相反。”
