关于自闭症孩子的兄弟姐妹的新研究,研究人员想要研究环境与遗传因素
2010年9月22日,由巴尔的摩太阳报记者
Meredith Cohn报道
Autism is a collection of related neurobiological conditions that is being reported more often. Researchers are now exploring genetic and environmental factors that may contribute to the disorders that affect social interactions and communication. M. Daniele Fallin, an associate professor of epidemiology at the Johns Hopkins Bloomberg School of Public Health, is the principal investigator of a multistate study, called the Early Autism Risk Longitudinal Investigation, or EARLI, that is looking at siblings of those with the disorders.
在这里输入译文 自闭症经常被报道为一种神经生物学的相关条件的集合。研究人员目前正在探索遗传和环境因素,可能有助于疾病的研究,影响社会的互动与沟通。M. Daniele Fallin是约翰霍普斯金大学彭博公共卫生学院的流行病学的副教授,是这个多态研究的首席研究员称为早起自闭症风险纵向调查,或者EARLI,是针对病人的兄弟姐妹展开的调查研究。
The study is funded federally and by Autism Speaks, a national advocacy and science organization that will hold Walk Now for Autism Speaks outside M&T Bank Stadium on Oct. 30. The 5K walk and festival aim to raise funds and awareness. Fallin discusses the disorders and the study.
在这里输入译文 这项关于自闭症的研究是由联邦政府资助的,10月30日国家宣传和科学组织将会为自闭症患者在体育场举行一场除了M&T 银行以外的步行活动。这个5公里的步行活动和节日的目的是筹集资金和增强人们的意识,讨论疾病的发展和研究。
Question: How common have autism diagnoses become?
在这里输入译文 问题:被诊断为自闭症的案例有多常见?
Answer: The CDC now estimates that 1 in 110 children has some type of Autism Spectrum Disorder, a term that includes autism, Asperger's and several related conditions. The prior CDC estimate, from two years earlier, was 1 in 150, but it's unclear if we're seeing a true rise in ASDs, the result of broadened criteria or better diagnosis — or a combination of those factors.
在这里输入译文 回答:目前,据疾病预防控制中心估计,在110个孩子中就有一个孩子患有自闭症,一个包括自闭症的研究中,阿斯伯格和几个相关条件的类型。根据疾病预防控制中心估计,在两年前,自闭症病例为150个孩子中有一个患者,但是目前我们还不能确定自闭症患者数量的上升,这也许是扩大诊断标准或是诊断的更科学的结果——或许是这些因素的结合。
Q: What does it mean to have autism?
在这里输入译文 问:患有自闭症意味着什么?
A: ASDs are a spectrum of neurobiological disorders that affect communication, social interactions and repetitive behaviors. But what's striking is the range of function and dysfunction. With classic autism, people might be nonverbal or display behaviors such as rocking, hand flapping or self-injury. With Asperger's, they might be extremely verbal but perhaps socially awkward. Many people with ASDs have sensory difficulties, and some have gastrointestinal problems. In short, no two people on the autism spectrum are exactly alike, but all seem to have some level of impaired communication.
在这里输入译文 答:自闭症是一种会影响沟通,社交和重复性行为的神经生物学范畴的疾病。但是,这种疾病最引人注目的是功能和功能障碍的范围。自闭症的典型行为,患者可能会出现如摇摆,用手拍打或者自我伤害的非语言行为。像是阿斯伯格,他们的表现可能是极口头的行为但是也有可能引起社交尴尬。很多患有自闭症的人感觉困难,有些人还有胃肠道问题。总之,好像没有完全相同的自闭症患者,但是他们似乎都有一定程度上的沟通障碍。
Q: Why has it been so hard to figure out a cause? And why are researchers focusing on genetic and environmental risks?
在这里输入译文 问:为什么找出一个原因如此困难?又为什么研究人员如此关注遗传和环境风险?
A: A lot of past research has focused on either a genetic cause or an environmental cause, but we're moving beyond that one-or-the-other approach. Scientists have identified multiple genes and mutations that seem to be related to ASDs, but it's more complex than just genetics. Environmental factors — whether diet, infections or exposures — may influence how genes are expresse#p#分页标题#e#d. ASDs are a varied set of conditions — and they may well have combinations of genetic and environmental risks. Further, when considering environmental factors that may combine with genes, both experiences of the mother during pregnancy and of the child during early life may be relevant.
在这里输入译文 答:过去的很多研究都集中在遗传原因或者环境原因上,但是我们也是在超越过去的方法,途径。科学家们发现多基因和基因突变似乎和自闭症有关,但它比遗传学更加复杂。环境因素——无论是饮食,感染或者暴露——都会影响基因的表达。自闭症是不同条件的集合——他们有可能是遗传和环境风险的组合。此外,还要考虑可能与基因结合相关的环境比如母亲在怀孕期间的经验和儿童在生命早期的环境。
Q: What will you learn from the Early Autism Risk Longitudinal Investigation that you are participating in?
在这里输入译文 问:你从你参加过的早期自闭症风险纵向调查中学到了什么?
A: Research shows that younger siblings of a child with ASD have a higher rate of ASDs themselves. So we are enrolling mothers who have a child with ASD, then following them at the start of a new pregnancy until that new baby turns 3. This approach allows us to gather a lot of information as it occurs during pregnancy and early life, which increases the accuracy of the data. As we gather information about maternal health, diet, behavior and environmental exposures, we're also getting biological samples, including blood and hair. All this gives us important genetic and environmental data so that many risk factors can be considered in the same study. Once the baby is born, the child will receive free developmental assessments from 6 months until age 3. The families get reports on their child's development, so if any red flags arise, parents can take that information and seek early intervention, which is key to getting the best outcome for a child. EARLI is a major undertaking, being conducted here in Maryland, in Pennsylvania and in California. We want to enroll a total of 1,200 mothers over the course of the 10-year study.
在这里输入译文 答:研究表明,自闭症孩子的弟弟妹妹的自闭症的概率也很高。所以我们征集有自闭症孩子的母亲,然后研究孕妇在怀孕初期直到这个新生儿三岁为止的活动。这个方法是我们获得了很多信息,因为它发生在怀孕期间和生命初期,这增加数据的准确性。当我们收集关于产妇保健,饮食,行为和环境风险的信息的同时,我们也得到了血液,头发等生物样品。这一切给了我们重要的基因和环境数据,使许多可以被考虑在相同的研究中。一旦这个孩子出世,他将获得6个月至3岁的免费发育评估。这些家庭得到他们孩子的发展报告,如果孩子发生了意外,家长可以利用这些信息寻求早期干预,这是为孩子寻求一个最好的结果的关键。EARLI是一个意义重大的项目,在宾夕法尼亚州,马里兰州和加利福尼亚州正在进行。我们希望可以为在这个研究过程长达十年的项目征集1200位母亲。
Q: Could the study help you prevent or better treat autism?
在这里输入译文 问:这个研究可以帮助你更好的预防和治疗自闭症吗?
A: EARLI can't prevent ASDs for the families who participate. But the free developmental assessments can assist families in seeking early intervention if their new child is showing signs of a delay. Results from EARLI won't be available for a number of years. But in time, we hope that EARLI does uncover risk factors for autism, potentially leading to prevention or better treatment in the long term.
在这里输入译文 答:EARLI项目不能防止参与研究的家庭的孩子患上自闭症。但是,如果这些家庭的孩子出现发育延迟现象,自由发展评估可以帮助他们寻找早期干预的方法。EARLI项目的研究结果无法持续使用多年。但是我们希望EARLI没有发现自闭症的危险因素,研究出在长期内可以预防和更好的治疗自闭症的潜在因素。