有关唐氏综合症的事实和常见问题解答

GLOBAL的重要新资源-GLOBAL成年人唐氏综合症医疗护理指南


在美国,唐氏综合症是 资金最少的主要遗传病 by our National Institutes of Health despite being the most frequent chromosomal disorder. Because of this, and because of lack of funding from other government organizations, there is surprisingly little known definitively about the condition.

The 全球 Down Syndrome Foundation 致力于为医学和基础研究提供资金,这将为仍然存在的许多问题提供答案。

什么是唐氏综合症?
唐氏综合症的病因是什么?
唐氏综合症的人口是多少?
您应该了解美国的唐氏综合症患者吗?
医疗问题和护理如何影响唐氏综合症患者?
患有唐氏综合症的婴儿将如何影响我的家人?
你怀孕了–如果您的医生提供了产前检查以查看您的婴儿患有唐氏综合症怎么办?
美国患有唐氏综合症的人的未来是什么?
有哪些障碍?

关于唐氏综合症的事实:什么是唐氏综合症?

1.唐氏综合症以英国医生的名字命名, John Langdon Down,他是第一个对有条件的人的共同特征进行分类的人。

2. Dr. Jerome Lejeune 被发现的唐氏综合症是一种遗传性疾病,一个人拥有三个21号染色体,而不是两个。

  • There are also very rare forms of Down syndrome (less than 6%) called Translocation Down Syndrome or Mosaic Down Syndrome in which not all of the chromosome is triplicated or not all cells of the body carry the extra chromosome.

3. Down syndrome is the most frequently occurring chromosomal disorder and the leading cause of intellectual and developmental delay in the U.S. and in the world.

唐氏综合症的病因是什么?

1.唐氏综合症的病因尚不清楚。

  • In a process called non-disjunction, the two copies of chromosome 21 fail to separate during formation of the egg, resulting in an egg with two copies of the chromosome. When this egg is fertilized, the resulting baby ends up with three copies of chromosome 21 in each of its cells. The cause of this non-disjunction remains unknown.

2. The chance of having a baby with Down syndrome increases with the mother’s age; however, about half of babies born with Down syndrome are born to mothers under 35 years old simply because more young women are having babies.

3. Down syndrome has nothing to do with race, nationality, socioeconomic status, religion, or anything the mother or father did during pregnancy.

4.乱伦和唐氏综合症之间没有相关性。

5. Between two and four percent of the time, a person is born with Mosaic translocation Down syndrome (mDs) whereby some but not all of the cells have an extra copy of the 21st chromosome and the other cells are not affected. Translocation happens when a piece of chromosome 21 becomes attached to another chromosome during cell division.

In the case of hereditary Translocation Down syndrome (a rare one to two percent of all people with Down syndrome), an extra chromosome 21 is inherited from one of the parents.

唐氏综合症的人口是多少?

1.美国疾病控制中心(CDC)在2011年估计唐氏综合症的发病率是 691例活产中有1例 (从1990年的1087分之一提高到)

2. The estimate that 90% of pregnant women in the U.S. who get a diagnosis of Down syndrome through amniocentesis choose to terminate IS INACCURATE.

  • 此统计数据基于所做的研究,这些研究合并了美国,英国和欧洲在 mid- to late 1990s. 这些数字并不代表当时或今天美国人口的态度。
  • A more targeted 2012 review of just United States data and termination rates following a prenatal diagnosis for Down syndrome estimates 1995年至2011年的终止率约为67%.

3.令人惊讶的是,目前尚不知道美国患有唐氏综合症的人群。 What we do know is:

  • 38% of Americans 认识唐氏综合症的人。
  • Because of the increase of live births of people with Down syndrome and the recent dramatic increase in their lifespan, over the next 20 years a significant increase in the population of people with Down syndrome in the U.S. is expected.
  • The population of people with Down syndrome in the U.S. has been estimated to be over 400,000. However, this number is derived from faulty assumptions – the total population from the 2000 US census, 281.4 million people, divided by the most current frequency of live births, 691 equaling 407,236. Unfortunately, this technique takes no account of the gradual increase in frequency or the increase in lifespan of people with Down syndrome. Thus, we don’t actually know how many people with Down syndrome currently live in the U.S.4. Some estimates put the worldwide population of people with Down syndrome at more than 6 million. More research is needed to ascertain whether this number is accurate.

您应该了解美国的唐氏综合症患者吗?

1.今天,唐氏综合症患者的平均寿命为 大约60年.

2. 大多数DS儿童在轻度至中度认知障碍范围内起作用。

3. People with Down syndrome have physical and intellectual delays from birth but there is a wide variety of abilities within the population that are impossible to predict ahead of time.

4.根据法律,美国唐氏综合症患者必须接受适当的免费公共教育.

5.越来越多的唐氏综合症患者独立生活。

6.一小部分但越来越多的唐氏综合症患者选择结婚并共同生活。


 

医疗问题和护理如何影响唐氏综合症患者?

1. People with Down syndrome are significantly predisposed to certain medical conditions including congenital heart defects, sleep apnea, and Alzheimer’s disease. There is also evidence of an increased risk of celiac disease, autism, childhood leukemia and seizures.

  • Some research shows that people with Down syndrome who have certain heart defects or childhood leukemia are more likely than their typical counterparts to recover or recover quickly.
  • 需要更多的研究来评估唐氏综合症人群中此类疾病的实际发生频率和恢复情况。
  • 这些疾病很多都可以治疗,唐氏综合症的许多人都不会患有这些疾病。

2. It is rare for a person with Down syndrome to have a solid tumor cancer or cardiovascular disease, including heart attack and stroke.

3.虽然患有唐氏综合症的儿童和成人 may 具有共同点,他们看起来更像是直系亲属,而不是彼此。

  • Common but not universal features include short stature, round face, almond-shaped and up-slanting eyes. Such features are not medical conditions.

4. Appropriate medical care for children and adults with Down syndrome is very important. It can make a major difference for that person’s physical and intellectual development.

5. Early intervention for babies with Down syndrome is very important. The appropriate physical and speech therapies for the first five years can make a major difference for that child’s physical and intellectual development.

唐氏综合症的婴儿会如何影响一个人’s family?

It is understandable that parents are concerned about how a child with Down syndrome will affect their family, including siblings. Every family is unique and may deal with the idea of, or the birth of, a baby with Down syndrome differently. Despite potential challenges, personal accounts and studies show that many families that have a child with Down syndrome are stable, successful and happy, and that siblings often have increased tolerance, compassion and awareness. In fact, a major study on marriages and Down syndrome shows the divorce rate among parents of children with Down syndrome is lower than the national average.

你怀孕了–如果您的医生提供了产前检查以查看您的婴儿患有唐氏综合症怎么办?

全球 Down Syndrome Foundation together with the 全国唐氏综合症大会 have created a pamphlet for pregnant women that addresses questions related to prenatal testing for Down syndrome. Many testing companies and doctor’s offices will be providing this pamphlet at the point of diagnosis. Please click here 访问或下载免费的小册子。

美国患有唐氏综合症的人的未来是什么?

Of course, there is no way to know what the future holds for anyone. In most ways, however, babies, children and adults with Down syndrome are more like other people than not. Babies and children with Down syndrome need all the same love and care as their typical peers. Most adults with Down syndrome have the same aspirations and desires as a person who does not have Down syndrome.

What we do know is that the future of people with Down syndrome in the U.S. has dramatically improved over the last several decades and is on an upward trajectory:

1.唐氏综合症患者不再住院,寿命增加了一倍以上,并且 主流美国人坚信 在人权和公民权利方面有条件的人。

2.自1970年代以来,公立学校必须依法向患有唐氏综合症的儿童提供免费和适当的教育。

3. In the U.S. many people with Down syndrome complete high school, more are going on to a postsecondary education and a handful have even received graduate degrees. An increasing number of colleges and universities have programs that are specifically designed for differently-abled students. Go to ThinkCollege.net 有关专上课程和资源的列表。

4. Some people with Down syndrome live independently or in an assisted independent arrangement, and a small but growing number have a romantic relationship and even get married.

5.许多患有唐氏综合症的人可以工作,自愿和投票。

6. Actors such as Chris Burke, who played Corky in Life Goes On, and Lauren Potter, 饰演Becky Jackson的人 Glee, 强调唐氏综合症患者的能力。

7. 主流美国人 strongly support government programs that provide education and training for people with Down syndrome, support their families and research into the condition.

8. 主流美国人 相信如果美国人能帮助患有唐氏综合症的人,他们的生活就会更好。

有哪些障碍?

在患有唐氏综合症的人们享受他们应有的平等和未来之前,有几个大障碍需要克服。

1. Medical communities in the U.S. have not caught up with society’s positive view about people with Down syndrome or the idea of “new” Down syndrome.

2. Recent surveys in the U.S. of parents, doctors, and medical students indicate that outdated and inaccurate information about Down syndrome is being provided to pregnant women who are prenatally diagnosed or at birth of their child.

  • Despite 1980s legislation in the U.S. to the contrary, some doctors still believe lifesaving procedures should be denied a person with Down syndrome; in some countries individuals with Down syndrome are still institutionalized.

3. There is a major lack of funding for research benefitting people with Down syndrome, even compared to other conditions and diseases.

  • 美国国立卫生研究院(NIH)用于唐氏综合症研究的资金启动了 2001年持续急剧下降 –因此,今天的唐氏综合症是美国资金最少的主要遗传病;
  • However, NIH’s National Institute of Childhood Health and Human Development is now working hard to correct the disparity of funding for people with Down syndrome and is taking the lead on educating other institutes at NIH.

4. Without research funding, best practices in terms of how people with Down syndrome learn in a classroom cannot be studied nor tools created for teachers and parents.

5.没有研究经费,就不可能有 集中式患者注册表,数据库或生物库 该系统可以帮助希望参与临床试验或教育研究的唐氏综合症患者。

6. Without research funding, the frequency and recovery rates of heart conditions and other diseases in people with Down syndrome cannot be properly estimated, nor can they be properly ameliorated or cured.

7. Without research funding, studying people with Down syndrome cannot help the tens of millions of Americans who suffer from diseases that people with Down syndrome have in much higher numbers.

全球唐氏综合症基金会正在与 国立儿童健康与人类发展研究所,唐氏综合症,国会唐氏综合症核心小组, 全国唐氏综合症大会, 研究唐氏综合症 and others to ensure that the National Institutes of Health and other Federal Government agencies provide a fair share of research funds to help people with Down syndrome.

If you have any questions or comments, or would like to learn more about the 全球 Down Syndrome Foundation please contact us at [email protected].