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标题: 2008年自闭症研究取得的新进展 [打印本页]

作者: heping_zhu    时间: 2009-1-19 07:25
标题: 2008年自闭症研究取得的新进展
2008 Autism Science Achievements
http://www.autismspeaks.org/science/science_news/dawson_year_in_science_2008.php
作者: mxd899    时间: 2009-1-22 11:48
标题: re:以下是原文,恳请大侠帮译一下!!20...
以下是原文,恳请大侠帮译一下!!
2008 Autism Science Achievements
January 8, 2009
Dear friends,
On a sunny afternoon last June, the moving van arrived to our new home in North Carolina only to get stuck in the ditch while attempting to negotiate the driveway. Minutes later, a policeman arrived to direct traffic while a very large tow truck pulled the moving van out of the ditch. While we waited anxiously, I struck up a conversation with the young police officer who eventually asked what brought us from the Northwest to the Southeast. I explained that I had taken a new job with an organization called Autism Speaks whose headquarters are located on the east coast. His expression then became serious and he quietly stated that his first son had been diagnosed with autism and now he was concerned about his second child. For the next half hour or so, we talked about his concerns for his youngest child and his hopes and dreams for his first. That moment reaffirmed my decision to take my new job as Chief Science Officer at Autism Speaks – it captured what our work at Autism Speaks is all about: Making life better for individuals like that young police officer and his children.
It's not surprising that one of the first people I spoke with when I arrived in North Carolina was someone struggling with autism in their family. The high prevalence of autism means that autism touches virtually everyone. Fortunately, because of scientific research, increased awareness, and advocacy, this father was not only aware that his young son has autism and already understood that his second child was at higher risk for autism; he will also be armed with a road map for how to best help both of his children. Living in North Carolina, he can take advantage of the state-funded early diagnosis program available for free to all who live in this state. But, we still have a long way to go. The road map is still filled with detours, dead ends, and many bumps in the road. For some parents, the road map leads to a very positive outcome for their child, whereas for others, the road map seems to offer little help at all. Looking back on 2008, how far have we come? And what challenges lie ahead for 2009? Later, we will be highlighting the “Top 10 Autism Science Achievements” in our e-Speaks newsletter. For now, I offer one scientist's perspective on the scientific achievements of last year and a brief look forward to the year ahead.
What did we learn in 2008 about what causes autism? The year started out with a bang when Susan Christian, Ph.D. (from University of Chicago), Mark Daly, Ph.D. (from the Autism Consortium) and Steve Scherer, Ph.D. (from the Autism Speaks-funded Autism Genome Project) almost simultaneously reported that DNA deletions and duplications on chromosome 16 explain the cause of 1-2 percent of the cases of autism. Individuals who have deletions in this chromosomal region have a high likelihood of developing autism. Taken together with other known genetic disorders that cause autism, we now can account for the genetic cause of about 10-15 percent of cases of autism.
There are about 25 genes in this region of chromosome 16 that are related to brain function. The search is now on for which of those genes might be causing autism. Some hospitals are now regularly screening for these types of deletions and duplications as part of the standard diagnostic work-up of a child suspected of having autism.
Three lead scientists and their co-workers (Dan Geschwind, M.D., Ph.D., Matthew State, M.D., Ph.D., and Aravinda Chakravarti, Ph.D.) reported new evidence that a gene called Contactin Associated Protein-Like 2 (CNTNAP2) is a risk gene for autism, most likely influencing the development of neural circuitry for language development in males. Previous research had shown that a rare mutation in CNTNAP2 is associated with seizures, language delay, and autism. Children with this rare mutation typically have onset of seizures between 14-20 months of age, followed by regression in language, learning ability, and social skills. Dr. Geschwind, lead author of one of these reports, is a member of Autism Speaks' Scientific Review Panel and Scientific Advisory Committee. The research on CNTNAP2 utilized the Autism Speaks-supported Autism Genetic Resource Exchange (AGRE) data. It's remarkable to realize that only a decade ago, we didn't even know where to look for genes related to autism. Now, scientists have identified several specific autism risk genes. This has happened, in large part, because scientists from around the world began pooling together their genetic data in large collaborative studies. The AGRE data base and AGP project –both large genetic data bases funded by Autism Speaks – have played a central role in these discoveries. As we learn more about autism susceptibility genes, we will be able to screen the second child in the family for these genes so that early intervention can begin as soon as possible. Furthermore, by understanding which genes are involved in autism, we will begin to understand the biological basis of autism.
2008 also witnessed several reports focused on possible environmental risk factors for autism. Among the environmental factors reported to be associated with risk for autism were mother's use of epileptic drugs during pregnancy, premature birth, prenatal exposure to high levels of pesticides or insecticides, seizures during infancy, living in regions that experience high levels of precipitation, and being born in April, June, and October. At first blush, some of these environmental factors are hard to understand. Why would there be a higher prevalence in regions that get more rain? One factor might be a deficiency in vitamin D. There is ample evidence that vitamin D has an important role in both brain development and function. Last year, Autism Speaks funded a study to follow up on this hypothesis. How about being born in April, June, or October? This novel finding was reported in a paper by Andy Zimmerman, M.D. and Craig Newschaffer, Ph.D. and their colleagues. Dr. Newschaffer is an epidemiologist who is a member of Autism Speaks' Scientific Advisory Committee and Scientific Review Panel. Dr. Newschaffer and colleagues note that the presence of seasonal trends in autism spectrum disorder (ASD) supports a role for non-genetic factors operating during the pre- or peri-natal period. Such factors could be viral infections, temperature or hormonal fluctuations, and toxic environmental exposures, among others.
Perhaps no other report in 2008 made a bigger impact than the case of Hannah Poling, a child with mitochondrial disorder who developed autism after receiving multiple vaccinations. A vaccine injury compensation decision acknowledged that vaccines may have contributed to the development of autism in young Hannah. The case led to increased interest in the role of mitochondrial disorder as an underlying condition that might make a child more vulnerable to adverse effects of vaccines. Since the ruling, Autism Speaks has funded two of the world's experts on mitochondrial disorder, Doug Wallace, M.D. and Richard Haas, M.D. to conduct a large scale study of the prevalence and nature of mitochondrial disorder in autism. Dr. Wallace is a member of Autism Speaks' Scientific Advisory Board.
Like pieces of a jigsaw puzzle falling into place in one corner of a large and complex picture, the genetics research of the past decade or so is beginning to shed light on the biochemical basis of autism. Specifically, several findings suggest that autism and related developmental disorders that often result in autism, such as Rett Syndrome, are caused by abnormalities in the connections between neurons (synapses). There are several ways synaptic functioning can be affected. The goal is to eventually be able to intervene and correct the biochemical abnormalities so that synaptic functioning can return to normal. One of the exciting findings reported last year did just that in a mouse model of tuberous sclerosis. Tuberous sclerosis (TSC) is a genetic disorder caused by mutations in the TSC1 or TSC2 gene that results in mental retardation, autism, and seizures. By inactivating this gene in mice, it is possible to mimic the TSC syndrome. Such mice have learning and memory problems. Alcino Silva, Ph.D. and colleagues at UCLA showed that these learning deficits are related to hyperactivity of a biochemical pathway in the hippocampus, a brain structure involved in learning and memory. They then introduced a treatment that inhibited this pathway which eliminated the learning deficits in the mouse. This example of “recovery” from a genetic condition represents a true paradigm shift in our thinking about developmental disorders. It was previously thought that it would not be possible to reverse a developmental syndrome. These results suggest that the pathology is reversible – the brain circuits affected do not atrophy but rather remain in an immature state, and they can be later activated in such a way to repair the syndrome's consequences. This report, and others documenting similar results for Fragile X and Rett Syndrome, suggest that potentially functional brain circuitry is lying dormant that can be corrected through biochemical manipulation. Last year, Autism Speaks funded Adrian Bird, Ph.D. from the United Kingdom to extend this type of research in a mouse model of Rett syndrome. Although the translation from a mouse model to a treatment for humans will be extremely challenging, these findings are motivating scientists world-wide to pursue precisely that goal. In fact, human clinical trials for Fragile X syndrome and TSC, based on the mouse model work, were launched last year. Looking ahead in 2009, this area of research promises to be one of the most exciting.
There is currently no molecular marker or biological test that is capable of identifying autism at an early age. Last year, however, Jun Tan, M.D. Ph.D. and colleagues reported a potential biomarker for autism that can be measured from a blood spot. The biomarker is secreted amyloid precursor protein-alpha (sAPP). In their study, they found that 60% of children with autism showed elevated sAPP. Another potential early biomarker was reported by Judy Van de Water, Ph.D. and Lisa Croen, Ph.D. Dr. Croen is a member of Autism Speaks' Scientific Advisory Board. These scientists measured maternal antibody reactivity to the fetus during mid-pregnancy in mothers who had participated in a prenatal screening program in California. They found that mothers whose children developed autism had higher levels of this immune marker during pregnancy. Similar results were reported from a group at Johns Hopkins University. Autism Speaks continues to fund a wide range of research on early detection of autism based on both behavioral and biological markers, including how these immune markers interact with genes identified as risk factors.
Earlier detection and treatment will certainly result in better outcomes for individuals with autism. In 2008, the first peer-reviewed scientific articles were published on the topics of recovery from autism and prevention of the disorder through early intervention. Debby Fein, Ph.D., a member of Autism Speaks Scientific Advisory Board, has been documenting cases of recovery from autism for the past few years. Dr. Fein reviews evidence that between 3-25 percent of children no longer are diagnosed with autism and have normal cognitive, adaptive, and social abilities. Early predictors of recovery include higher IQ, and improved receptive language and imitation skills, but not necessarily the severity of autism symptoms. Most cases of recovery are the result of behavioral intervention. The second article, which I wrote, was the first to describe a model of prevention of autism via early detection and early intervention. The model describes how environmental enrichment through early intervention can mitigate the influences of genetic and environmental risk factors and alter the trajectory of brain development such that a subgroup of children never develops the full blown syndrome of autism.
Autism Speaks efforts directed toward increased awareness and insurance coverage for autism services continue to be high priority at our organization. Increasingly, however, we are also focusing our efforts on diagnosis and increasing access to services across the life span. Families of individuals with autism continue to have difficulty gaining access to care, even when services are available, and the costs are prohibitive. A report published in 2008 found that health care expenses associated with autism rose 20 percent from 2000-2004. Another report noted that families who have a child with ASD have an annual loss of $6,200 or 14 percent of their income. In yet another 2008 report, Michael Kogan, Ph.D. and colleagues noted that, compared to children with other special health care needs, children with autism are more likely to have many unmet needs for health care and family support. Employment, health, and emotional well-being of parents are all negatively affected. Parents are often required to stop or reduce work to care for their child. Thus, it is crucial that Autism Speaks continues to advocate for improved care, access to appropriate services, and financial and other types of support for families.
As new methods for autism detection and treatment become available, it is essential that we consider how these new findings are going to be disseminated to the practicing clinician. Discovery of a biomarker for early detection or a new medical treatment for autism will only have impact if clinicians in the community are aware of this information and use it. For example, in 2008, it was reported that rates of mortality in individuals with autism are twice that of the general population. Epilepsy and infectious disease were found to be the most common cause of mortality. This suggests that mortality in autism could be reduced with appropriate access to care and physician training.
One of my goals as CSO at Autism Speaks is to facilitate the dissemination of scientific discoveries into general practice. Last year, we instituted at new research portfolio focused on dissemination and policy. The science team at Autism Speaks is already working on several efforts aimed at improving dissemination. The Autism Treatment Network (ATN), a network of autism treatment centers funded by Autism Speaks, is focused on improving medical care for children with autism. Each ATN site has a multidisciplinary team that includes a pediatric gastroenterologist, sleep specialist and metabolic specialist. The goal is to define best practices in medical care for autism and increase access to improved medical care by publishing guidelines and training practitioners. The ATN received a major boost in funding in 2008 when it was awarded a $12 million dollar grant from the federal government to investigate nutritional and sleep problems in children with autism and develop guidelines for medical care. Last year, the ATN also had the good fortune of hiring an outstanding medical director, Daniel Coury, M.D. Dr. Coury brings with him a wealth of clinical and administrative experience, having served as the chief of developmental and behavioral pediatrics at the Nationwide Children's Hospital and the Ohio State University. Other Autism Speaks efforts on dissemination have involved collaboration with the NIH and other professional organizations, and are focused on developing and implementing large scale models for training in screening, diagnosis, and treatment. To ensure that the results of all research funded by Autism Speaks is communicated world-wide, we now require all grantees to post their publications on PubMed Central, an on-line database that provides free access to biomedical publications. In doing so, Autism Speaks became the first US-based non-profit advocacy organization to require this of their grantees.

A look back on 2008 and look forward to 2009 would not be complete without noting the financial crisis that has affected the world economy. The crisis affects us all – families, individuals with autism, scientists, clinicians, businesses and nonprofit foundations. One of my biggest concerns is the loss of scientific momentum in the field of autism research. The last decade has witnessed a dramatic increase in the number of scientists who are turning their creative minds and efforts toward discovering the causes and effective treatments for autism. Many of these scientists are young people who are just starting their careers and rely on Autism Speaks to fund their fellowships and research. As a science, autism research is just now becoming mature enough to yield what promises to be truly ground-breaking discoveries. With the increased awareness of autism, government officials and universities are now paying attention to autism, devoting more resources, and investing in state-of-the-art autism centers of excellence. President-elect Obama has expressed his commitment to improving the lives of individuals with autism through research and improved access to high quality services. Now, more than ever, unifiedsupport for research and advocacy efforts has the potential to yield real change in the lives of individuals with autism and their families.
I fully recognize that, among the autism stakeholder community, there will always be real differences of opinion regarding what kinds of research are most important. I am reminded of another event of 2008 that occurred shortly after I started as CSO. I was delivering my first major talk on behalf of Autism Speaks, a bit chagrined because I had developed laryngitis. At the end of the talk, a man clearly agitated by my talk asked me why we wanted to cure people with autism. My talk was viewed as offensive to this man who was content to have autism and was proud of the unique and special gifts that people with autism bring to our world. Then, another man jumped up, equally agitated and began to angrily describe how his brother had suffered because of autism. He described how his brother had never learned to speak and how his brother's life had been greatly diminished by autism. In a whisper due to my laryngitis, I remarked that the very different and valid perspective that each of these men has reflects the tremendous heterogeneity among people with autism. Yet, both men have one thing in common – the desire to reduce suffering for people with this condition. Indeed, my email inbox is filled each day with a diversity of perspectives and opinions about what Autism Speaks should be doing. I read each of these emails with great interest. It is my belief, however, that we must strive to achieve one strong voice while, at the same time, allowing there to be a wide range of opinions and perspectives. I listen carefully to every voice, knowing that history has taught us that scientific truth is often what you least expect to find.
I believe we can maintain and accelerate the momentum we have achieved in autism science despite the economic challenges we face. I hope that every supporter of our efforts will stick with us through this difficult economic period, by whatever level of support is possible, and that every supporter will reach out to a friend or colleague to ask for their support so we can maintain our efforts by increasing the number of people who are devoted to these efforts.
Our promise to you is that our focus will remain unwavering. Scientific efforts will continue to focus on discovering the causes, treatments, and cure for autism, and disseminating that knowledge into the larger world to affect real change for all individuals with ASD and their families. Autism Speaks advocacy efforts will continue to focus on reducing stigma, improving quality of life, and increasing knowledge and awareness of autism. I hope you will join with us in that effort.
With best wishes for the New Year!

作者: zw2008    时间: 2009-1-22 14:00
标题: re:我的孩子睡醒了,看不完了
我的孩子睡醒了,看不完了
作者: 骏杰    时间: 2009-1-22 23:00
标题: re:试着翻译——不一定正确,请大家谅解!...
试着翻译——不一定正确,请大家谅解!
在阳光明媚的下午,去年6月,移动车抵达我们的新家园在北卡罗莱纳州只卡住在沟里,而试图通过谈判的车道。几分钟后,一名警察来到指挥交通,而一个非常大的拖车拉动车出沟。虽然我们焦急地等待,我击中了与年轻的警官问谁最终给我们带来了从西北到东南。我解释,我已经采取了新的就业与组织讲的所谓自闭症总部设在东海岸。他的表情变得严肃然后,他悄悄地说,他的第一个孩子被诊断患有孤独症,现在,他担心他的第二个孩子。在接下来的半小时左右,我们谈到了他的关注,他最小的孩子和他的希望和梦想是他首次。重申我的那一刻决定采取新的工作,首席科技官在孤独症的讲话-占领我们的工作是什么自闭症的讲话就是:让生活更美好的个人一样,年轻的警官和他的孩子们。
这并不奇怪,第一个与我交谈的人当我抵达北卡罗莱纳州是有人在挣扎与孤独症家庭。高度流行自闭症意味着自闭症涉及几乎每一个人。幸运的是,由于科学研究,提高认识,和宣传,这不仅是父亲知道,他年幼的儿子已经有自闭症和理解,他的第二个孩子是在风险较高的自闭症患者,他也将携带的路线图,如何最好帮助他的孩子。居住在北卡罗莱纳州,他可以充分利用国家资助的早期诊断程序免费提供给所有谁生活在这个国家。但是,我们仍然有很长的路要走。路线图仍然是充满了曲折,死角,许多颠簸的道路。对于一些家长,路线图导致一个非常积极的成果,他们的孩子,而对另一些情况下,路线图似乎提供一些帮助的。回首2008年,我们有多远呢?和挑战摆在面前, 2009年?后来,我们将突出“十大科学成就孤独症”在我们的电子通讯讲话。现在,我提供了一个科学家的角度对科学成就和去年的简短期待来年。
我们学习什么, 2008年大约是什么原因导致自闭症?这一年开始时,伴随着一声巨响苏珊基督教,博士(来自美国芝加哥大学) ,马克戴利博士(从孤独症财团)和史蒂夫谢勒,博士(从孤独症的讲话资助孤独症基因组计划)几乎同时报道说, DNA缺失和重复解释16号染色体上的原因1-2百分之案件孤独症。个人谁有缺失的染色体区域在这个有很高的可能性发展中国家孤独症。连同其他已知遗传性疾病,导致自闭症,现在我们可以考虑的遗传原因,约10月15日的百分之案件孤独症。
大约有25个基因在这一地区的16号染色体有关的重要脑功能。搜索现在为这些基因可能是造成孤独症。有些医院现在定期检查这些类型的缺失和重复的一部分,标准诊断工作的子女涉嫌自闭症。
三个带头的科学家和他们的同事(丹Geschwind ,医学博士,哲学博士,马修国,医学博士,哲学博士,并Aravinda Chakravarti ,博士)报告了新的证据表明,基因Contactin相关蛋白样2 ( CNTNAP2 )是一种危险基因自闭症,最有可能影响发展的神经电路的语言发展的男性。以往的研究表明,一种罕见的基因突变的CNTNAP2与癫痫发作,语言延迟,与孤独症。这种罕见的儿童通常都发生突变的缉获量14-20个月之间的年龄,其次是回归的语言,学习能力,技巧和社交技能。博士Geschwind的主要作者之一,这些报告的成员,也是孤独症的讲话科学审查小组和科学咨询委员会。研究CNTNAP2利用自闭症讲话支持孤独症遗传资源交易所(同意)的数据。这是了不起的认识到,只有在十年前,我们甚至不知道在何处寻找相关基因的自闭症。现在,科学家已经确定了若干具体自闭症风险的基因。这种情况,在很大程度上是因为来自世界各地的科学家开始集中自己的基因数据的大型合作研究。基础数据的可靠性和AGP项目大型基因数据库资助孤独症的讲话-发挥了核心作用,这些发现。当我们更多地了解孤独症易感基因,我们将能够在屏幕上的第二个孩子在家庭中的这些基因,以便早期干预可以尽快开始。此外,通过了解哪些基因参与自闭症,我们将开始了解生物学基础孤独症。
2008年也出现了一些报告的重点可能造成的环境危险因素的自闭症。在环境因素的报告,与自闭症的风险是母亲的使用癫痫药物在怀孕期间,早产,产前暴露于很高的杀虫剂含量或杀虫剂,缉获婴儿期,生活在这一地区的经验,高水平的降水,并正在出生于4月, 6月和10月。乍一看,这些环境因素是很难理解。为什么会有较高的患病率在地区,获得更多的雨水?其中一个因素可能是缺乏维生素D ,有充分的证据表明,维生素D具有重要的作用,在脑发育和功能。去年,孤独症的讲话资助一项研究,以落实这一假说。如何出生在4月, 6月或10月?这种新发现报告的一份文件中由Andy齐默尔曼, MD和克雷格Newschaffer博士和他们的同事。 Newschaffer博士是一名流行病学家谁是会员的自闭症讲话的科学咨询委员会和科学审查小组。 Newschaffer博士及其同事注意到,在场的季节性趋势,自闭症谱系障碍(房间隔缺损)支持作用的非遗传因素在作业前或围产后期。这些因素可能是病毒感染,温度或荷尔蒙的波动,和有毒的环境暴露,等等。
或许没有其他报告在2008年作出了更大的影响的情况下比汉娜极化,儿童线粒体疾病谁开发孤独症在收到多个接种疫苗。疫苗工伤补偿决定承认疫苗可能的发展做出了贡献自闭症青年汉娜。案件导致的兴趣增加的作用,线粒体疾病为基本条件,可能使儿童更容易受到不利影响的疫苗。由于执政,孤独症的讲话已经资助两个世界的专家对线粒体疾病,道华莱士博士和理查德哈斯,医学博士,进行大规模的流行研究和性质线粒体障碍孤独症。华莱士博士的成员孤独症的讲话,科学咨询委员会。
像块拼图玩具落入发生在一个角落里的一个庞大而复杂的图片,遗传学的研究在过去十年左右开始揭示的生化基础孤独症。具体来说,一些调查结果显示,自闭症及相关发育障碍,往往导致孤独症, Rett综合症等,所造成的异常之间的联系,神经元(突触) 。有几种方法可以突触运作受到影响。我们的目标是最终能够进行干预和纠正的生化异常,使突触功能可以恢复正常。一个令人振奋的结果也与去年报告的公正,在一个小鼠模型的结节性硬化症。结节性硬化症(台糖)是一种遗传性疾病的突变所造成的TSC1或TSC2基因,结果在精神发育迟滞,自闭症,和癫痫发作。这种基因的失活的小鼠,可以模仿台糖综合征。这种小鼠的学习和记忆的问题。阿尔西诺席尔瓦博士和同事在加州大学洛杉矶分校表明,这些学习赤字有关多动症的生化途径中的海马,大脑结构参与学习和记忆。然后,他们介绍了治疗,抑制这个途径消除学习赤字鼠标。这个例子中的“恢复”从遗传条件提出了一个真正的范式转变的思考发育障碍。过去一般认为不可能扭转发展综合症。这些结果表明,病理是可逆的-受影响的大脑回路没有萎缩,而是留在一个不成熟的状态,他们可以稍后激活的方式来修复综合征的后果。这份报告,记录和其他类似的结果为脆性X和Rett综合症,表明潜在的脑功能电路处于休眠状态,可以得到纠正,通过生化处理。去年,孤独症的讲话资助阿德里安伯德,博士来自英国,延长这类研究在小鼠模型Rett综合征。虽然翻译的小鼠模型,以用于治疗人类的将是极其具有挑战性的,这些结果是激发科学家全世界范围内推行正是这一目标。事实上,人体临床试验的脆性X染色体综合症和TSC的基础上,小鼠模型的工作,是在去年推出。展望未来,到2009年,这一领域的研究将是一个最令人兴奋的。
目前没有分子标记或生物试验,它能够识别自闭症在幼年。去年,然而,谭军先生4 pH值。 4和同事报告了潜在的生物标志物的自闭症可衡量的血片。生物标志物分泌淀粉样前体蛋白- α ( sAPP ) 。在他们的研究中,他们发现, 60 %的自闭症儿童表明高架sAPP 。另一个潜在的早期生物标志物的报道朱迪范德水博士和丽莎Croen博士博士Croen成员自闭症的讲话,科学咨询委员会。这些科学家测定母源抗体反应对胎儿中孕的母亲谁参加了产前筛查计划在加利福尼亚州。他们发现,母亲的自闭症儿童发展水平较高的免疫标记在怀孕期间。类似的结果报告了一组在约翰霍普金斯大学。自闭症的讲话继续对基金的范围广泛的研究,及早发现孤独症基于行为和生物标志物,其中包括如何将这些免疫标记与基因鉴定为危险因素。
早期发现和治疗肯定会产生更好的成果,个人与孤独症。在2008年,第一次同行审查的科学上发表文章的题目恢复孤独症和预防这种疾病通过早期干预。黛比党,博士,孤独症的成员讲科学咨询委员会,已记录案件恢复自闭症在过去的几年里。博士党评语的证据表明, 3月25日之间的百分之儿童不再被诊断为自闭症及有正常的认知,适应,与社会的能力。早期预测恢复包括更高的智商,改善接受的语言和模仿能力,但不一定是严重的自闭症症状。大多数情况下,复苏的原因是行为干预。第二条,我写道,是第一次来描述模型通过预防孤独症的早期发现和早期干预。该模型描述了如何通过环境浓缩早期干预可以减轻的影响,遗传和环境危险因素和改变轨迹的大脑发育,例如,一个分组的儿童从来没有开发充分吹综合征孤独症。
自闭症讲话努力针对提高认识和保险自闭症服务继续高度重视在我们的组织。越来越多,然而,我们也集中我们的努力的诊断和增加获得服务的寿命。家庭的个人与孤独症继续很难获得照顾,即使提供服务,并且费用高昂。发表的一份报告发现, 2008年医疗保健费用上涨孤独症相关的百分之二十从2000-2004年。另一份报告指出,谁拥有家庭儿童房间隔缺损每年损失六二零零美元或百分之十四的收入。 2008年中的又一报告,迈克尔根博士和他的同事指出,儿童相比,与其他特殊保健需要,自闭症儿童更可能有许多需要没有得到满足的医疗保健和家庭的支持。就业,健康,和情感福祉的父母都是不利的影响。家长往往要求停止或减少工作,照顾他们的孩子。因此,至关重要的是,自闭症的讲话继续主张改善的照顾,获得适当的服务,以及金融和其他类型的对家庭的支援。
作为新方法孤独症诊断和治疗到位,至关重要的是,我们考虑如何使这些新发现将被分发给执业医生。发现了一个生物标记,以便及早发现或新的治疗孤独症只会产生影响,如果医生在社区已经知道了这一信息,并使用它。例如,在2008年,据报道,死亡率在个人与孤独症的两倍,是普通人群。癫痫症和传染性疾病被发现是最常见的死亡原因。这表明,死亡率可减少孤独症的适当获得照顾和医生的培训。
我的目标之一是民间社会组织在孤独症的讲话是促进传播科学发现一般的做法。去年,我们在制定新的研究组合侧重于传播和政策。科学小组孤独症的讲话已经工作的若干努力改善传播。孤独症治疗的网络(急性肾小管坏死) ,网络孤独症治疗中心资助孤独症的讲话,重点是改善医疗服务的儿童孤独症。每个急性肾小管坏死的网站有一个多学科小组,其中包括一个儿科肠胃,睡眠专家和代谢专家。我们的目标是确定最佳做法的医疗自闭症和增加获得改善医疗服务的出版方针和培训从业人员。收到的急性肾小管坏死的一个主要推动在2008年的资金时,被授予1200万美元的美元赠款联邦政府调查的营养和睡眠问题的自闭症儿童和发展的指导方针的医疗照顾。去年,急性肾小管坏死也有幸聘请优秀医务主任丹尼尔Coury ,医学博士Coury带来了丰富的临床和行政管理经验,具有担任行政长官的发展和行为儿科学在全国儿童医院与美国俄亥俄州立大学。其他自闭症讲话努力传播涉及与美国国立卫生研究院和其他专业组织,并主要集中在制定和实施大规模的培训模式的筛查,诊断,治疗。为了确保所有的研究结果资助孤独症的讲话传达世界各地,我们现在要求所有受赠后其出版物上PubMed的中央,一个在线数据库,提供免费获取生物医学出版物。在这样做时,孤独症的讲话成为第一个总部设在美国的非营利组织的倡导,要求其受赠本。

回顾在2008年,并期待着2009年将是不完整的没有注意到的金融危机已影响到世界经济。这场危机影响到我们所有人-家庭,个人与孤独症,科学家,临床医生,企业和非盈利性基金会。我的一个最大的担忧是丧失动力的科学领域中的自闭症研究。在过去十年中目睹了人数急剧增加的科学家在谈到谁是他们的创意思维和努力探索的原因和有效的治疗孤独症。许多这些科学家是青年人谁才刚刚开始自己的职业生涯,并依靠自闭症谈到基金的奖学金和研究。作为一门科学,自闭症研究只是现在变得成熟了,足以产生什么承诺要真正突破性的发现。随着人们日益认识自闭症,政府官员和大学现在关注自闭症,投入更多资源,并投资于国家最先进的自闭症英才中心。当选总统奥巴马表示,他致力于改善个人的生活与孤独症通过研究和改善获得高质量的服务。现在比以往任何时候, unifiedsupport研究和宣传工作,有可能产生真正改变个人的生活与孤独症和他们的家人。
我充分认识到,利益相关者之间的自闭症社区,总是会有真正的意见分歧,关于什么样的研究是最重要的。我想起了另一事件发生在2008年后不久,我开始为民间组织。我提供我的首个大满贯谈论自闭症的名义讲话,有点懊恼,因为我已经制定喉炎。结束时的讲话,一个人清楚地激动,我说话问我,为什么我们希望治愈自闭症的人。我的谈话被视为攻击这名男子是谁内容有自闭症,并引以为自豪的是独特和特别的礼物,人们自闭症使我们的世界。然后,另一名男子一跃而起,同样激动,并开始愤怒地描述了如何遭受他的兄弟,因为孤独症。他描述他的弟弟从来没有学会说话,如何他哥哥的生活已大大减少了孤独症。用耳语由于我国喉炎,我说的非常不同的和有效的角度看,这两个男子已经反映了人民之间的巨大异质性与孤独症。然而,男女双方有一个共同点-的愿望,以减少人民的痛苦与此条件。事实上,我的电子邮件收件箱中充满每天与各种各样的观点和意见,了解孤独症的讲话应该做的事。我读到这些电子邮件每个怀着极大的兴趣。我相信,但是,我们必须努力实现的一个强有力的声音,同时,在同一时间,使那里成为一个广泛的意见和观点。本人认真倾听每一个声音,知道历史告诉我们,科学真理往往是你最不期望找到。
我相信我们能够保持和加快的势头,我们已经取得的自闭症科学,尽管我们面临的经济挑战。我希望每一个支持我们的努力将继续坚持与我们通过这个经济困难时期,以任何程度的支持是可能的,并且每个支持者将接触到的朋友或同事,要求他们支持,让我们可以保持我们的努力,越来越多的人的数目谁致力于这方面的努力。
我们的承诺,你是我们的重点将继续坚定不移的。科学研究工作将继续把重点放在发现的原因,治疗和治愈自闭症,和传播的知识转变为更大的世界真正的变化影响的所有个人与房间隔缺损和他们的家人。自闭症讲话的宣传工作将继续把重点放在减少耻辱,提高生活质量,增加知识和认识自闭症。我希望你能同我们一道努力。
与最良好的祝愿新的一年!
作者: 张书利    时间: 2009-1-22 23:35
标题: re:楼上的你是不是用金山快译之类的软件翻译的...
楼上的你是不是用金山快译之类的软件翻译的?
作者: heping_zhu    时间: 2009-1-23 16:46
标题: re:Anyway, Thank 骏杰 for...
Anyway, Thank 骏杰 for your efforts!
作者: zczc628    时间: 2009-1-23 21:50
标题: re:读起来太费力。企望哪位高人整理一下
读起来太费力。企望哪位高人整理一下
作者: heping_zhu    时间: 2009-2-1 22:28
标题: re:[IMG=0,absmiddl...
     [IMG=0,absmiddle]http://www.autismspeaks.org/images/science/science_news/d_200901_Dawson.jpg[/img]
Chief Science Officer
Autism Speaks
(一) 去年6月,在一个阳光明媚的下午,我们搬家的车抵达了我们在北卡罗莱纳州的新家,车辆被卡在为车道的泥沟里;几分钟后,一名警察赶来指挥交通,调来了一辆非常大的拖车,将我们的车拉出泥沟,这时,我们都在焦急地等待,我与这位年轻的警官开始聊了起来。他问:是什么原因导致我们要从美国西北部搬到东南部来。我解释道,因为我已经接受了一项新的工作,这个机构称为自闭症论坛,它的总部在东海岸。年轻警官的面部表情开始变得很严肃。他平静地告诉我,他的第一个儿子已被诊断患有孤独症,现在,他很担心他的第二个孩子。在接下来的半小时多时间里,我们谈到了对他小儿子的忧虑,也谈到了对他大孩子的希望和梦想。就在那一刻,我坚定了我接受这项新工作的信念。即作为自闭症论坛的首席科学家。我们自闭症论坛组织工作的核心和全部内容就是:使得象年轻警官这样的家庭和他们的孩子们的生活更加幸福。(待续)

作者: heping_zhu    时间: 2009-2-1 23:09
标题: re:(二)当我们抵达北卡罗莱纳州...
   
(二)当我们抵达北卡罗莱纳州时,第一个与我交谈的人竟然是家庭正在与自闭症作战的人。这丝毫不令我感到惊讶,几年来,由于自闭症的高度流行,自闭症实质上已敲击着每一位社会成员。幸运的是,由于科学研究的进步、社会的意识的增强,舆论的宣传,使这位父亲不仅较早地意识到他的第一个孩子患了自闭症,还也明白他的第二个孩子存在较大的患病风险;社会已经给他提供了一个规划或路线图,指导他如何帮助他的两个孩子。生活在北卡罗莱纳州,他可以利用州立基金,免费为他的孩子进行早期诊断和检查。然而,我们仍然有很长的路要走,我们的道路上还充满了曲折、泥泞和危险。对于某些家长而言,这种规划图为他们的孩子提供了非常积极的效果;然而,对另外一些家长而言,这个规划图没有太多的作用。回顾2008年,我们取得了多少成绩?展望2009年,我们面临着怎样的挑战?在随后的内容中,我们将强调“2008年自闭症科学的十大进展”。我以科学家的观点来简要概括去年取得的成就,并展望新的一年。(待续)
作者: heping_zhu    时间: 2009-2-2 02:19
标题: re:[IMG=0,absmiddle]htt...
[IMG=0,absmiddle]http://www.autismspeaks.org/images/science/science_news/d_200901_mark_daly_wide.jpg[/img]
     Mark Daly, Ph.D.
Assistant Professor, Harvard U.

(三)2008年,在是什么原因导致自闭症方面,我们学习到了什么?这一年,基督教徒苏珊博士(来自美国芝加哥大学)、Mark Daly博士(来自自闭症协会)和Steve Scherer博士(来自自闭症论坛资助的自闭症基因组计划)几乎同时报道说, 16号染色体的复制和DNA缺失问题可以解释自闭症成因的1-2个百分点。在这个染色体区域缺失的人有较高的风险会形成自闭症。连同其他已知的导致自闭症的遗传性疾病,现在我们可以解释自闭症案例的10%-15%是来自基因方面的原因。
在16号染色体区域有25个基因与脑功能相关。研究表明:可能是这些基因异常导致了自闭症。一些医院现在以常规筛查这种基因的缺失和复制作为自闭症可疑患儿的常规检查之一。


作者: 子宜爸爸    时间: 2009-2-2 15:12
标题: re:感谢heping_zhu!好人有好报.希...
感谢heping_zhu!好人有好报.希望早日译完全文.
作者: 翔翔妈    时间: 2009-2-2 15:15
标题: re:谢谢楼主啊,又上了一课
谢谢楼主啊,又上了一课
作者: heping_zhu    时间: 2009-2-2 16:27
标题: re:[IMG=0,absmiddle]htt...
[IMG=0,absmiddle]http://www.autismspeaks.org/images/science/science_news/d_200901_geschwind.jpg[/img]
Dan Geschwind, M.D., Ph.D. Professor, UCLA
     (四)三个带头的科学家(Dan Geschwind博士,Matthew State博士和Aravinda Chakravarti博士)和他们的同事报告了他们的新发现。有一种称为Contactin Associated Protein-Like 2 (CNTNAP2)的基因是一种导致自闭症的危险基因,最有可能影响神经环路的发展,而神经环路影响语言的发展。以往的研究表明,CNTNAP2的异常转变与癫痫发作、语言延迟和自闭症相关。这种发生CNTNAP2基因病变的患童通常在14-20个月之间癫痫发作,随后发生语言、学习能力,技巧和社交技能的衰退。Geschwind博士是这个系列报告的主要撰写者,也是自闭症论坛科学审查小组和科学咨询委员会的成员。对CNTNAP2基因的研究,利用了自闭症论坛组织资助的自闭症遗传基因资源交换库的资源。很明显,仅仅在十年前,我们甚至还不知道在何处寻找与自闭症相关的基因。现在,科学家已经确定了若干具体的自闭症风险基因。这种情况,在很大程度上是因为来自于世界各地的科学家汇合了各自在基因及数据方面的研究,自闭症论坛资助的大型数据库(The AGRE data base and AGP project)发挥了核心作用。这些发现,使我们更多地了解了自闭症的易感基因,在存在这些基因的家庭中,我们也将能够凭以筛选第二个孩子,以便于可以尽快地开始早期干预。此外,通过了解哪些基因可能导致自闭症,我们也将开始了解自闭症的生物学基础。
作者: heping_zhu    时间: 2009-2-4 12:52
标题: re:[IMG=0,absmiddle]htt...
[IMG=0,absmiddle]http://www.autismspeaks.org/images/science/science_news/d_200901_37newschaffer.jpg[/img]
Craig Newschaffer, Ph.D.,
Professor, Drexel University
    (五) 2008年也有几份报告,它们的重点是证实自闭症可能存在环境风险因素。与自闭症引发相关的环境风险因素包括:母亲在怀孕期间服用癫痫药物、早产、产前暴露于很高的杀虫剂环境中、在婴儿期性颠痫发作、生活在降雨较高的地区、出生在四月、六月和十月。初看起来,一些环境因素让人难以理解的。比如:为什么在降雨量较高的地区流行率较高?一个可能的因素在这些地区人体缺乏维生素D,有足够的证据表明维生素D在头脑发育和功能方面发挥重要作用。去年,自闭症论坛资助了一项研究,这项研究进一步研究以上的季节性为假设。即为什么出生在四月、六月和十月,发生自闭症的可能性较高?研究者是Newschaffer博士和他的同事,他是一位流行病学家,研究报告认为:在自闭症谱系中的确存在季度趋势,这也支持在产前、围产期非基因因素理论。他们认为可能的影响因素有:滤过性毒菌引起的感染、荷尔蒙波动和有毒的环境中暴露等。
    (六)在2008年,或许没有其他报告比Hannah Poling案件更具有影响。这个孩子患了线粒体疾病,在接种多个疫苗后发展成为自闭症。这件疫苗伤补偿裁决案例表明:承认疫苗对小Hannah Poling形成自闭症有一定的影响。这个案例也引起了对线粒体疾病在自闭症形成中所扮演什么角色的关注。线粒体疾病作为一个潜在条件,使孩子更加容易受疫苗的副作用的攻击。发生以上裁决后,自闭症论坛资助了两位世界级的线粒体疾病专家,他们是Doug Wallace博士和Richard Haas博士,大量地研究自闭症中线粒体疾病的流行和性质。Doug Wallace博士是自闭症论坛科学咨询委员会的成员。

作者: heping_zhu    时间: 2009-2-5 00:17
标题: re:(七)正如要把七巧板这种智力拼...
     (七)正如要把七巧板这种智力拼图玩具的拼图块插入一个庞大而复杂的组合图片的某一角一样,过年十年多的基因研究正在逐步揭示自闭症的生物基础。特别是有几项发现表明:自闭症及相关的几种经常导致自闭症的疾病,比如Rett综合症是由于神经元或神经键的连接异常所造成的。治疗目标最终是能够介入和更正这种生化异常现象,从而使神经元的连续功能返回到正常状况。去年,令人振奋的发现之一是进行了一项对结节性脑硬化的小鼠的模型试验。结节性脑硬化是一种由于TSC1 和 TSC2基因的突变所产生的基因病变,结果导致智力迟钝、自闭症和癫痫发作。实验中,通过钝化这些基因在小鼠中的活动,模拟产生了TSC综合症的病况。试验鼠产生了学习和记忆的困难。UCLA的Alcino Silva博士和他的同事展示了这些学习困难与(脑内的)海马状突起的生化路径的活动过度是相关的。随后,他们介入了治疗,通过抑制这些路径,消除小鼠的学习困难,这个基因条件的“复原”实验提供了一个真实的范例,它扭转了我们对发展性疾病的思维惯例。原来,我们认为,要逆转一个发展性的综合症是不可能的。该项结果表明:病理是可逆的,受影响的大脑回路并没有萎缩,而是留在一个不成熟的状态,以后,它们可以通过修复这种综合症的结果的方式被激活。这份报告和其他相关X和RETT综合症的研究文件表明:脑电路的潜在功能是存在的,只是处于潜伏期,它们能够通过生化处理得以更正。去年,自闭症论坛资助英国的Adrian Bird,博士进一步进行这种小鼠模型的RETT症研究。尽管,从小鼠模型转移到对人类的治疗是极富有挑战性的,然而,这些发现正在激励着世界各地的科学家向这个方向努力。事实上,基于小鼠模型工作的,对人类的X染色体脆弱综合症症和TSC症的临床实验去年就启动了。展望2009年,这一领域的研究肯定将是一个最令人兴奋的探索之一。
      
    该论文的主体内容就译到此了。同时,再次强调:生物疗法目前仍是颇有争议的非主流疗法。可以说,此乃一家之言。仅供家长们了解和参考。但科学的努力和追求是无至境的,体现了人类的信心、决心和勇气,表现了科学探索的坚韧不拔和持之以恒的精神,相信将来会有一天,人类将揭开autism病魔的面纱并驾驭它!
作者: 苗苗妈    时间: 2009-2-5 13:36
标题: re:非常感谢您为我们带来的好消息,同时谢谢您...
非常感谢您为我们带来的好消息,同时谢谢您,辛苦了.
作者: tatada    时间: 2009-2-6 22:10
标题: re:领用了 ,谢谢你了 。。
领用了 ,谢谢你了 。。
作者: 王彦文    时间: 2009-2-7 11:47
标题: re:谢谢你,辛苦了
谢谢你,辛苦了
作者: zczc628    时间: 2009-2-7 22:32
标题: re:heping_zhu : 谢...
heping_zhu :
     谢谢!辛苦了!谢谢!
     功力!
作者: 牛由    时间: 2009-2-13 10:22
标题: re:先谢谢楼主.
先谢谢楼主.
作者: 牛由    时间: 2009-2-13 10:24
标题: re:http://news.yaho...


http://news.yahoo.com/s/hsn/20090212/hl_hsn/babygestureslinkedtovocabularydevelopment

Baby Gestures Linked to Vocabulary Development

THURSDAY, Feb. 12 (HealthDay News) -- New research suggests the income and education levels of parents are connected to a baby's skills with gesturing, which in turn can indicate whether a child will develop strong language abilities.

"The children who are gesturing about more things in their environment have larger vocabularies later," said study author Meredith L. Rowe. "And we see that children from higher socioeconomic levels are gesturing more."

The research doesn't prove that children in less privileged families gesture less and therefore grow up with more limited vocabularies. Nor is every baby destined to follow the general patterns found by researchers.

"We're not saying that gesture is the whole story," added Rowe, a postdoctoral scholar at the University of Chicago. But the links uncovered in the study do help researchers "pinpoint some things that seem to matter," she said.

While they don't get quite as much attention as words, gestures are also an effective form of communication: Think of sign language, for instance. Babies, in fact, start gesturing before they speak, Rowe said.

In the new study, Rowe and researchers examined 50 children from the Chicago area when they were 14 months old and then again at 4.5 years. The researchers filmed 90-minute videos of the kids interacting with their parents at home for the first session, and tested their vocabulary in the second.

The findings were published in the Feb. 13 issue of Science.

The researchers found that the level of gesturing at 14 months is linked to the vocabulary level at 4.5 years; the income and education of parents also played a role. For instance, during the first session, the children from high-income households gestured 24 times, compared to 13 gestures from kids in low-income homes. And when both groups were tested for vocabulary, the kids from the high-income families scored 117, compared to 93 in the other group.

Spencer Kelly, a gesture researcher and an associate professor of psychology at Colgate University in New York, said children from more privileged households might live in homes with more objects, such as toys and furniture. As a result, they may "provide more opportunities for parent and child to use gestures when talking about things."

It's also possible that the children might have more opportunities for activities with their families, because there may be fewer children and more free time, Kelly said. "Much research has shown that these sorts of social activities help children learn language."

Why does all this matter? "Above and beyond what children and parents say with their words, what they do with their hands is important for how children develop language," Kelly said. "These results fit with recent research demonstrating that hand gestures enhance learning and memory in educational contexts, such as gaining new math skills or acquiring new words in a foreign language."

In the big picture, gesture appears to influence vocabulary, "which is a strong predictor of students' success," said Rowe. "If they're lagging in vocabulary, they might not have much of a chance to catch up."

The next step, she said, is to see if helping kids gesture more will help them develop better vocabulary.


作者: laoqiang    时间: 2009-2-13 20:30
标题: re:本人教育程度和收入都不高,因此看不懂上面...
本人教育程度和收入都不高,因此看不懂上面的文章。知道牛兄通晓多国文字,还请翻译成法文或德文为妥,实在不行,中文亦可。
作者: 牛由    时间: 2009-2-15 10:33
标题: re:Bonne Saint Valentin...
Bonne Saint Valentin!

现在各种语言的转换工具很多,别说法文德文,牛来西亚文也不在话下.不过我们还是说母语吧.

21楼的这则消息主要是强调一下早教的重要,虽然不见得有什么新意,但有些事情就是要翻来覆去多种角度去重复.这里面画蛇添足提到的一些结论,很自然会让楼上这位教育程度和收入比较欠缺的朋友不爽,只是考虑到以下几点,我们还是可以原谅原作者的: (1)这是资本主义的期刊 (2)这里讲的是典型小孩,家长基本上处在比较自然的放任状态 (3)SCIENCE 虽然是顶级学术期刊,失察现象时有发生.比如几年前,韩国的黄禹锡教授就是在它上面发表了丕胎干细胞方面的研究突破,一时名声大振,被韩人视为民族英雄,以为他会夺得诺贝尔奖.结果论文全是编的.
作者: 秋爸爸    时间: 2009-2-15 17:03
标题: re:不管22楼是真枪假枪,附和一下,按照楼上...
不管22楼是真枪假枪,附和一下,按照楼上牛兄提供的翻译思路,立刻用谷歌翻译将上面的Bonne Saint Valentin!给译了一下,中文意思是:博讷圣瓦伦丁!(这里恳请日后一定先告知原文是哪国的,害得我试了多次)
一下子读懂了,豁然开朗了,还是母语好啊!

德文意思是:Gute zum Valentinstag!
顺带着把日韩俄几国也给翻出来了,虽晚了点儿,但仍可供各种母语网友明年来查看享用。

ボンサンバレンティン!
보는 성 발렌틴!
Bonne Святого Валентина!

这谷歌真好:一贴一点,一句外国话就通读过去了,啊嚎~!
但还是期盼自己也能知识渊博如楼上那样:不贴不点,所有外国话都能通读过去了,啊嚎~!
作者: 落霞    时间: 2009-2-26 16:35
标题: re:感谢
感谢




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