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Autism

自閉癥

Why it's not “Rain Woman”

為什么它不是“雨女”

Women have fewer cognitive disorders than men dobecause their bodies are better at ignoring themutations which cause them

與男性相比，患有認(rèn)知障礙的女性較少，因?yàn)樗齻冏陨淼纳眢w能更好的忽略導(dǎo)致認(rèn)知障礙的基因突變

AUTISM is a strange condition. Sometimes its symptoms of “social blindness” (an inability toread or comprehend the emotions of others) occur alone. This is dubbed high-functioningautism, or Asperger's syndrome. Though their fellow men and women may regard them as abit odd, high-functioning autists are often successful (sometimes very successful) members ofsociety. On other occasions, though, autism manifests as part of a range of cognitiveproblems. Then, the condition is debilitating. What is common to those on all parts of the so-called autistic spectrum is that they are more often men than women—so much more oftenthat one school of thought suggests autism is an extreme manifestation of what it means,mentally, to be male. Boys are four times more likely to be diagnosed with autism than girls are.For high-functioning autism, the ratio is seven to one.

自閉癥是一種奇怪的狀態(tài)。有時(shí)它是由“社會(huì)失明”癥狀(無法閱讀或理解他人的情緒)導(dǎo)致的孤獨(dú)。這被稱為高功能自閉癥，或亞斯伯格癥候群。雖然他們的男性和女性同伴會(huì)認(rèn)為他們有點(diǎn)奇怪，但高功能自閉患者通常是成功的社會(huì)人士(有時(shí)非常成功)。然而，另一些場(chǎng)合，自閉癥表現(xiàn)為一系列認(rèn)知問題的一部分。那么，條件逐漸衰弱。對(duì)于那些所有被稱為自閉癥患者范圍的人來說共同點(diǎn)是男性遠(yuǎn)多于女性，以至于一個(gè)學(xué)校認(rèn)為自閉癥意味著一種極端的在心理上表現(xiàn)為一名男性。比起女孩而言，男孩有四倍的可能性被診斷為自閉癥。至于高功能自閉癥，比率達(dá)到7比1。

Moreover, what is true of autism is true, to a lesser extent, of a lot of other neurological andcognitive disorders. Attention deficit hyperactivity disorder (ADHD) is diagnosed aroundthree times more often in boys than in girls. “Intellectual disability”, a catch-all term forcongenital low IQ, is 30-50% more common in boys, as is epilepsy. In fact, these disordersfrequently show up in combination. For instance, children diagnosed with an autistic-spectrumdisorder[1] often also receive a diagnosis of ADHD.

此外，自閉癥的真相，在較小程度上，就是神經(jīng)病學(xué)的認(rèn)知障礙的真相。被診斷為注意力缺乏癥的男大約是女孩的三倍。“智力殘疾”，一個(gè)全面概括先天性智商低下的術(shù)語，在男孩中常見比例多達(dá)30%~50%，癲癇癥也是。事實(shí)上，這些疾病經(jīng)常共同出現(xiàn)。例如，被診斷為自閉癥譜系障礙的小孩經(jīng)常也收到ADHD的診斷。

Autism's precise causes are unclear, but genes are important. Though no mutation which, byitself, causes autism has yet been discovered, well over 100 are known that make someone withthem more vulnerable to the condition.

導(dǎo)致自閉癥的確切原因還不知道，但是基因很重要原因。雖然還沒發(fā)現(xiàn)是由于它自身的突變導(dǎo)致自閉癥，但超過100個(gè)基因被認(rèn)為是使某些人在環(huán)境影響下更容易受到攻擊的對(duì)象。

Most of these mutations are as common in women as in men, so one explanation for thedivergent incidence is that male brains are more vulnerable than female ones to equivalentlevels of genetic disruption. This is called the female-protective model. The other broadexplanation, social-bias theory, is that the difference is illusory. Girls are being under-diagnosed because of differences either in the ways they are assessed, or in the ways they copewith the condition, rather than because they actually have it less. Some researchers claim, forexample, that girls are better able to hide their symptoms.

這些突變?cè)谀行院团�性中是一樣普遍的，所以一個(gè)對(duì)分歧發(fā)生率的解釋是對(duì)于同等的基因毀壞，男性大腦比女性的更容易受傷害。這被稱為女性保護(hù)模式。另一個(gè)廣發(fā)的解釋是社會(huì)偏見理論，認(rèn)為這些不同是虛幻的。這些被診斷不足的女孩，因?yàn)樗齻儽辉u(píng)估的方式或?qū)Νh(huán)境的處理不同，而不是他們真的很少有這個(gè)癥狀。例如，一些研究者聲稱，女孩能更好的隱藏這些癥狀。

The weaker sex

弱勢(shì)性別

To investigate this question, Sebastien Jacquemont of the University Hospital of Lausanne andhis colleagues analysed genetic data from two groups of children with cognitive abnormalities.Those in one group, 800 strong, were specifically autistic. Those in the other, 16,000 strong,had a range of problems.

為了調(diào)查這個(gè)問題，洛桑醫(yī)科大學(xué)的醫(yī)生Sebastien Jacquemont和他的同事分析來自兩組患有認(rèn)識(shí)異常癥狀孩子的基因數(shù)據(jù)。一組有800人明顯確定患有自閉癥;另一組是明顯有一系列問題。

Dr Jacquemont has just published his results in the American Journal of Human Genetics. Hiscrucial finding was that girls in both groups more often had mutations of the sort associatedwith abnormal neural development than boys did. This was true both for copy-number variants(CNVs, which are variations in the number of copies in a chromosome of particular sections ofDNA), and single-nucleotide variants (SNVs, which are alterations to single genetic letters inthe DNA message).

醫(yī)生Jacquemont剛將他的研究成果發(fā)布在美國人類遺傳學(xué)雜志上。他的關(guān)鍵發(fā)現(xiàn)是兩組中，女孩比男孩更多有伴隨異常神經(jīng)發(fā)展種類的基因突變。這在拷貝數(shù)量變異組(CNVs，一組對(duì)DNA特定部分的染色體進(jìn)行復(fù)制)和單核苷酸變異組(SNVs，修改DNA信使中單獨(dú)的基因字母)兩組中都是對(duì)的。

On the face of it, this seems compelling evidence for the female-protective model. Since allthe children whose data Dr Jacquemont examined had been diagnosed with problems, if thegirls had more serious mutations than the boys did, that suggests other aspects of theirphysiology were covering up the consequences. Females are thus, if this interpretation iscorrect, better protected from developing symptoms than males are. And, as furtherconfirmation, Dr Jacquemont's findings tally with a study published three years ago, whichfound that CNVs in autistic girls spanned more genes (and were thus, presumably, moredamaging), than those in autistic boys.

從表面上看，這似乎是令人信服的女性保護(hù)模式證據(jù)。因?yàn)镴acquemont醫(yī)生檢驗(yàn)的所有孩子的數(shù)據(jù)都被診斷有問題，如果比起男孩，女孩有更嚴(yán)重的突變，那就表面他們生理機(jī)能的其他方面掩蓋了結(jié)果。如果這個(gè)解釋是正確的，因此女性比男性能在出現(xiàn)的癥狀中更好的保護(hù)自己。而且，作為進(jìn)一步的確認(rèn)，Jacquemont醫(yī)生的發(fā)現(xiàn)與一個(gè)三年前發(fā)布的研究成果相符，研究發(fā)現(xiàn)CNVs在自閉癥女孩中橫跨多個(gè)基因(也因此假設(shè)更具破壞性)，比患自閉癥男孩的多。

The counter-argument is that if girls are better at hiding their symptoms, only the moreextreme female cases might turn up in the diagnosed groups. If that were true, a greaterdegree of mutation might be expected in symptomatic girls as a consequence. However, DrJacquemont and his colleagues also found that damaging CNVs were more likely to be inheritedfrom a child's mother than from his or her father. They interpret this as further evidence offemale-protectedness. Autistic symptoms make people of either sex less likely to becomeparents. If mothers are the source of the majority of autism-inducing genes in children, itsuggests they are less affected by them.

相反的觀點(diǎn)認(rèn)為如果女孩能更好的隱藏他們的癥狀，在被診斷的小組中，只有更極端女性案例會(huì)出現(xiàn)。如果這是正確的，那么在女孩癥候群中預(yù)期有更多程度的突變。然而， Jacquemont醫(yī)生和他的同事同樣也發(fā)現(xiàn)受損的CNVs遺傳于母親的可能性大于他或她的父親。他們解釋這進(jìn)一步證明了女性保護(hù)機(jī)制。自閉癥癥狀使任何性別的人都不大愿意成為父母。如果母親是孩子自閉癥誘導(dǎo)基因的主要來源，因此建議孩子們能少受到影響母體的影響。

None of this, though, explains the exact mechanism that makes boys more susceptible thangirls. On this question, too, there are two predominant theories. The first is that males aremore sensitive because they have only one X-chromosome. This makes them vulnerable tomutations on that chromosome, because any damaged genes have no twin to cover for them.One cognitive disorder, fragile-X syndrome, is indeed much more common in men for thisreason. Dr Jacquemont's study, however, found only a limited role for X-chromosomemutations. That suggests the genetic basis of the difference is distributed across the wholegenome.

即使沒有這個(gè)，準(zhǔn)確機(jī)制也說明男孩比女孩更易受到影響。在這個(gè)問題上，也有兩個(gè)主要的理論。第一個(gè)理論認(rèn)為男性更敏感， 因?yàn)樗麄冎挥幸粋�(gè)X染色體。這使對(duì)染色體的突變更易受影響，因?yàn)槿魏问軗p基因都沒有雙胞胎來掩蓋。認(rèn)知障礙，X染色體易損綜合癥，確實(shí)因?yàn)檫@個(gè)原因在男性中很常見。然而Jacquemont醫(yī)生的研究發(fā)現(xiàn)X染色體突變的作用有限。這表明該差異的遺傳基礎(chǔ)是分布在整個(gè)基因組的。

The other kind of explanation is anatomical. It is based on brain-imaging studies whichsuggest differences between the patterns of internal connection in male and female brains.Male brains have stronger local connections, and weaker long-range ones, than do femalebrains. That is similar to a difference seen between the brains of autistic people and of thosewho are not. The suggestion here is that the male-type connection pattern is somehow morevulnerable to disruption by the factors which trigger autism and other cognitive problems.Why that should be, however, remains opaque.

另一種解釋則是解剖學(xué)意義上的。它基于男性和女性大腦內(nèi)部連接模式差異的腦成像研究。男性大腦比起女性而言，有較強(qiáng)的本地連接，較弱的長范圍連接。這與是否患有自閉癥者大腦的不同相似。這表明男性類型連接模式在某種程度上更加易受因此自閉癥的其他認(rèn)知障礙因素得破壞。然而為什么會(huì)這樣，仍是未解之謎。

【重點(diǎn)解析】

1.regard as 認(rèn)為;認(rèn)作

例句:English has hurt me a thousand times, but I stillregard it as my first love.

英語傷我千百遍，我待英語如初戀。

2.likely to 傾向于;可能要

例句:The fires are likely to permanently deforestthe land.

這些火災(zāi)很可能會(huì)徹底毀掉這片土地上的森林。

3.diagnose with 診斷出;被診斷為

例句:Batch process fault diagnose with Petri net is a comparatively active research field atpresent.

Petri網(wǎng)用于間歇工業(yè)過程故障診斷是目前較為活躍的研究領(lǐng)域。

4.show up 露面;出席

例句:Scientists know that cancer may not show up for many years.

科學(xué)家們知道癌癥可能會(huì)潛伏多年。