Bookmark Us书签我们   Health AZ Guides亚利桑那州卫生指南 | Home 家  Down Syndrome 唐氏综合症 Down Syndrome唐氏综合症 Down Syndrome 唐氏综合症
Named after John Langdon Down, the first physician to identify the syndrome, Down syndrome is the most frequent genetic cause of mild to moderate mental retardation and associated medical problems and occurs in one out of 800 live births, in all races and economic groups.命名后，约翰兰登跌，首先医生确定综合症，唐氏综合症是最常见的遗传原因，轻度到中度智力迟钝和相关的医疗问题和发生在1 800名活产婴儿，在所有种族和经济团体。 Down syndrome is a chromosomal disorder caused by an error in cell division that results in the presence of an additional third chromosome 21 or "trisomy 21."唐氏综合症是一种染色体异常疾病所造成的错误在细胞分裂的结果，在场的另外三分之一21号染色体或“ 21三体。 ”
The Chromosomal Basis of Down Syndrome 染色体基础上唐氏综合征
To understand why Down syndrome occurs, the structure and function of the human chromosome must be understood.要理解为什么唐氏综合征发生，结构和功能的人类染色体必须理解。 The human body is made of cells; all cells contain chromosomes, structures that transmit genetic information.人体是由细胞;所有细胞含有染色体，结构，传递遗传信息。 Most cells of the human body contain 23 pairs of chromosomes, half of which are inherited from each parent.大多数细胞的人体含有23对染色体，其中一半是继承分别来自父母。 Only the human reproductive cells, the sperm cells in males and the ovum in females, have 23 individual chromosomes, not pairs.只有人的生殖细胞，精子细胞在男性和女性卵子中，有23个人的染色体上，而不是对。 Scientists identify these chromosome pairs as the XX pair, present in females, and the XY pair, present in males, and number them 1 through 22.科学家查明这些染色体对作为第二十条对，目前在女性，以及对代理，目前在男性，和一些他们1到22 。
When the reproductive cells, the sperm and ovum, combine at fertilization, the fertilized egg that results contains 23 chromosome pairs.当生殖细胞，精子和卵子在体外受精结合，受精卵结果包含23对染色体。 A fertilized egg that will develop into a female contains chromosome pairs 1 through 22, and the XX pair.受精卵将发展成为一个女性对染色体包含1到22 ，和二十对。 A fertilized egg that will develop into a male contains chromosome pairs 1 through 22, and the XY pair.受精卵，将发展成为一个男性对染色体包含1到22 ，和代理对。 When the fertilized egg contains extra material from chromosome number 21, this results in Down syndrome.当受精卵包含多余的材料染色体数目21日，这一结果在唐氏综合征。
The Genetic Variations That Can Cause Down Syndrome 该基因变异可导致唐氏综合症
Three genetic variations can cause Down syndrome.三种基因变异可导致唐氏综合症。 In most cases, approximately 92% of the time, Down syndrome is caused by the presence of an extra chromosome 21 in all cells of the individual.在大多数情况下，约92 ％的时间，是唐氏综合症的存在造成的额外21号染色体的所有细胞的个人。 In such cases, the extra chromosome originates in the development of either the egg or the sperm.在这种情况下，额外染色体起源于人的发展，无论是卵子或精子。 Consequently, when the egg and sperm unite to form the fertilized egg, three--rather than two--chromosomes 21 are present.因此，当卵子和精子团结起来，形成受精卵， 3 -而不是两个-染色体21本。 As the embryo develops, the extra chromosome is repeated in every cell.随着胚胎的发展，额外染色体重复在每一个细胞。 This condition, in which three copies of chromosome 21 are present in all cells of the individual, is called trisomy 21.这种情况，其中3份21号染色体存在于所有细胞的个人，被称为21三体。
In approximately 2-4% of cases, Down syndrome is due to mosaic trisomy 21.在大约2-4 ％的情况下，唐氏综合征是由于花叶21三体。 This situation is similar to simple trisomy 21, but, in this instance, the extra chromosome 21 is present in some, but not all, cells of the individual.这种情况是类似简单21三体，但是，在这种情况下，额外的21号染色体存在于一些，但并非所有细胞的个人。 For example, the fertilized egg may have the right number of chromosomes, but, due to an error in chromosome division early in embryonic development, some cells acquire an extra chromosome 21.例如，受精卵可能有正确的染色体数目，但是，由于一个错误的染色体分裂早期胚胎发育，细胞获得一些额外的21号染色体。 Thus, an individual with Down syndrome due to mosaic trisomy 21 will typically have 46 chromosomes in some cells, but will have 47 chromosomes (including an extra chromosome 21) in others.因此，个人与唐氏综合征由于花叶21三体通常会有46个染色体中一些细胞，但将有47个染色体（包括额外的21号染色体）在其他国家。 In this situation, the range of the physical problems may vary, depending on the proportion of cells that carry the additional chromosome 21.在这种情况下，各种物理问题可能会有所不同，这取决于细胞的比例携带额外的21号染色体。
In trisomy 21 and mosaic trisomy 21, Down syndrome occurs because some or all of the cells have 47 chromosomes, including three chromosomes 21.在21三体和21三体镶嵌，唐氏综合症发生原因，是因为部分或全部细胞有47个染色体，其中包括三个染色体21 。 However, approximately 3-4% of individuals with Down syndrome have cells containing 46 chromosomes, but still have the features associated with Down syndrome.然而，大约3-4 ％的个人与唐氏综合征细胞包含有46个染色体，但仍然有相关的功能与唐氏综合症。 How can this be?怎么能这样呢？ In such cases, material from one chromosome 21 gets stuck or translocated onto another chromosome, either prior to or at conception.在这种情况下，材料从一个21号染色体停顿或传导到另一染色体上，无论是以前或概念。 In such situations, cells from individuals with Down syndrome have two normal chromosomes 21, but also have additional chromosome 21 material on the translocated chromosome.在这种情况下，细胞从个人与唐氏综合症有两个正常的染色体21 ，但也有额外的21号染色体上的物质染色体的易位。 Thus, there is still too much material from chromosome 21, resulting in the features associated with Down syndrome.因此，仍有太多的材料从21号染色体，从而导致相关的功能与唐氏综合症。 In such situations, the individual with Down syndrome is said to have translocation trisomy 21.在这种情况下，个人与唐氏综合症据说易位染色体21 。
The Occurrence of Down Syndrome 发生唐氏综合症
Most of the time, the occurrence of Down syndrome is due to a random event that occurred during formation of the reproductive cells, the ovum or sperm.大多数时候，发生唐氏综合征是由于随机事件，发生在形成生殖细胞的卵子或精子。 As far as we know, Down syndrome is not attributable to any behavioral activity of the parents or environmental factors.据我们所知，唐氏综合症是不能归咎于任何行为活动的父母或环境因素。 The probability that another child with Down syndrome will be born in a subsequent pregnancy is about 1 percent, regardless of maternal age.的概率，另一个孩子唐氏症将诞生在随后的妊娠约为百分之一，无论产妇年龄。
For parents of a child with Down syndrome due to translocation trisomy 21, there may be an increased likelihood of Down syndrome in future pregnancies.对于孩子的父母与唐氏综合症由于染色体易位21日，有可能增加的可能性唐氏综合征在未来怀孕。 This is because one of the two parents may be a balanced carrier of the translocation.这是因为其中一人的父母可能是一个均衡的运营商的易位。 The translocation occurs when a piece of chromosome 21 becomes attached to another chromosome, often number 14, during cell division.易位发生在一块成为21号染色体附加到另一染色体上，往往是排名第14位，在细胞分裂过程中。 If the resulting sperm or ovum receives a chromosome 14 (or another chromosome), with a piece of chromosome 21 attached and retains the chromosome 21 that lost a section due to translocation, then the reproductive cells contain the normal or balanced amount of chromosome 21.如果由此产生的精子或卵子收到了染色体14 （或其他染色体） ，有一张21号染色体重视和保留了21号染色体失去一节由于易位，然后生殖细胞含有正常或平衡金额21号染色体。 While there will be no Down syndrome associated characteristics exhibited, the individual who develops from this fertilized egg will be a carrier of Down syndrome.虽然不会有唐氏综合症有关的特色展示，个人谁开发从这个受精卵将是一个载体，唐氏综合症。 Genetic counseling can be sought to find the origin of the translocation.遗传咨询可以设法找到原产地的易位。
However, it is important to realize that not all parents of individuals with translocation trisomy 21 are themselves balanced carriers.然而，重要的是要认识到，并非所有家长的个人与易位21三体本身是平衡的运营商。 In such situations, there is no increased risk for Down syndrome in future pregnancies.在这种情况下，没有任何风险增加唐氏综合征在未来怀孕。
Researchers have extensively studied the defects in chromosome 21 that cause Down syndrome.研究人员已经广泛研究的缺陷在21号染色体，造成唐氏综合症。 In 88% of cases, the extra copy of chromosome 21 is derived from the mother.在88 ％的情况下，额外的副本21号染色体是来自母亲。 In 8% of the cases, the father provided the extra copy of chromosome 21.在8 ％的情况下，父亲提供了额外的副本21号染色体。 In the remaining 2% of the cases, Down syndrome is due to mitotic errors, an error in cell division which occurs after fertilization when the sperm and ovum are joined.在剩下的2 ％的情况下，唐氏综合征是由于有丝分裂的错误，一个错误的细胞分裂发生在受精后的精子和卵子的加入。
Down Syndrome and Maternal Age 唐氏综合征和产妇年龄
Researchers have established that the likelihood that a reproductive cell will contain an extra copy of chromosome 21 increases dramatically as a woman ages.研究人员已经确定的可能性，生殖细胞将包含一个额外的副本21号染色体急剧增加作为一名女性，年龄。 Therefore, an older mother is more likely than a younger mother to have a baby with Down syndrome.因此，老年人的母亲更有可能比年轻的母亲有一个孩子与唐氏综合症。 However, of the total population, older mothers have fewer babies; about 75% of babies with Down syndrome are born to younger women because more younger women than older women have babies.然而，在总人口中，老年人较少母亲的婴儿;约75 ％的婴儿与唐氏综合征出生在年轻妇女因为越来越多的年轻女性比年长妇女的婴儿。 Only about nine percent of total pregnancies occur in women 35 years or older each year, but about 25% of babies with Down syndrome are born to women in this age group.只有约百分之九的总发生在怀孕的妇女35岁或以上每年，但约有25 ％的婴儿与唐氏综合征的出生的妇女在这个年龄组。
The incidence of Down syndrome rises with increasing maternal age.的发病率上升唐氏综合征与产妇年龄越来越多。 Many specialists recommend that women who become pregnant at age 35 or older undergo prenatal testing for Down syndrome.许多专家建议，妇女怀孕谁在35岁或以上接受产前检查的唐氏综合症。 The likelihood that a woman under 30 who becomes pregnant will have a baby with Down syndrome is less than 1 in 1,000, but the chance of having a baby with Down syndrome increases to 1 in 400 for women who become pregnant at age 35.的可能性，一个女人在30岁以下谁当选孕妇将有一个婴儿与唐氏综合征小于1 1000 ，但机会有一个婴儿与唐氏综合征提高到1 400谁的妇女在怀孕的35岁。 The likelihood of Down syndrome continues to increase as a woman ages, so that by age 42, the chance is 1 in 60 that a pregnant woman will have a baby with Down syndrome, and by age 49, the chance is 1 in 12.的可能性唐氏综合征继续增加作为一名女性的年龄，因此到42岁，机会是1 60 ，孕妇将有一个婴儿与唐氏综合症和49岁的机会是1比12 。 But using maternal age alone will not detect over 75% of pregnancies that will result in Down syndrome.但是利用产妇年龄不会单独检测75 ％以上的怀孕，这将导致唐氏综合症。
Relationship of Down Syndrome Incidence to Mothers' Age 关系唐氏综合症发病率，以母亲年龄
Mothers Age--------------Incidence of Down Syndrome母亲发病年龄--------------唐氏综合征
Under 30.....................根据30日..................... Less than 1 in 1,000不到1 1000
30...............................1 in 900 30 ............................... 1 900
35...............................1 in 400 35 ............................... 1 400
36...............................1 in 300 36 ............................... 1 300
37...............................1 in 230 37 ............................... 1 230
38...............................1 in 180 38 ............................... 1 180
39...............................1 in 135 39 ............................... 1 135
40...............................1 in 105 40 ............................... 1 105
42...............................1 in 60 42 ............................... 1 60
44...............................1 in 35 44 ............................... 1 35
46...............................1 in 20 46 ............................... 1 20
48...............................1 in 16 48 ............................... 1 16
49...............................1 in 12 49 ............................... 1比12
Source: Hook, EG, Lindsjo, A. Down Syndrome in Live Births by Single Year Maternal Age.来源：钩，如Lindsjo ，字母a.唐氏综合征活产婴儿中的单年孕产妇年龄。
Prenatal Screening for Down Syndrome 产前筛查唐氏综合征
Prenatal screening for Down syndrome is available.产前筛查唐氏综合征可用。 There is a relatively simple, noninvasive screening test that examines a drop of the mother's blood to determine if there is an increased likelihood for Down syndrome.有一个相对简单，无创性筛选试验，审查下降了母亲的血液，以确定是否有增加的可能性为唐氏综合症。 This blood test measures the levels of three markers for Down syndrome: serum alpha feto-protein (MSAFP), chorionic gonadotropin (hCG), and unconjugated estriol (uE3).这种血液检测措施水平的三个标志唐氏综合征：血清甲型胎儿蛋白（ MSAFP ） ，绒毛膜促性腺激素（ HCG ） ，以及未雌三醇（ uE3 ） 。 While these measurements are not a definitive test for Down syndrome, a lower MSAFP value, a lower uE3 level, and an elevated hCG level, on average, suggests an increased likelihood of a Down syndrome fetus, and additional diagnostic testing may be desired.虽然这些措施没有明确的检验唐氏综合症，低MSAFP价值， uE3较低的水平，和人绒毛膜促性腺激素水平升高，平均而言，意味着增加可能性唐氏综合征胎儿，和额外的诊断测试可以预期的。
Diagnostic Testing for Down Syndrome 诊断检测唐氏综合征
There are several prenatal diagnostic tests that can be performed to determine the occurrence of Down syndrome.有几个产前诊断测试，可以执行，以确定发生的唐氏综合征。 These tests include amniocentesis, chorionic villus sampling (CVS), and percutaneous umbilical blood sampling (PUBS).这些测试包括羊膜穿刺术，绒毛取样（ CVS ）的，并经脐血取样（酒馆） 。 However, before undergoing any of these diagnostic tests, patients and their families should seek detailed genetic counseling to discuss their family history in relationship to the risks and benefits of performing these diagnostic procedures.然而，在经历上述任何诊断化验，病人及其家属应寻求详细的遗传咨询，讨论他们的家族病史的关系，风险和利益履行这些诊断程序。
Amniocentesis, the removal and analysis of a small sample of fetal cells from the amniotic fluid, is widely available and involves a lower risk of miscarriage than chorionic villus sampling.羊膜穿刺术，清除和分析小样本的胎儿细胞从羊水，是普及和涉及的风险较低流产比绒毛取样。 However, amniocentesis cannot be done until the 14th to 18th week of pregnancy, and it usually takes additional time to determine whether the cells contain extra material from chromosome 21.但是，羊膜穿刺术不能做，直到14日至18日一周的怀孕，它通常需要更多的时间来判断是否含有细胞额外的材料21号染色体。
Chorionic villus sampling, conducted at 9 to 11 weeks of pregnancy, involves extracting a tiny amount of chorionic villi, tissue extensions that will eventually develop into a placenta.绒毛取样，进行9至11周的妊娠，包括提取一小数额的绒毛，组织扩展，最终将发展成为一个胎盘。 The tissue can be tested for the presence of extra material from chromosome 21.该组织可以测试是否存在额外的材料21号染色体。 The villi can be obtained through the pregnant woman's abdomen or cervix.绒毛可通过孕妇的腹部或子宫颈癌。 This type of sampling carries a 1-2% risk of miscarriage.这种类型的抽样携带1-2 ％的流产危险。
The third diagnostic method, percutaneous umbilical blood sampling or PUBS, is the most accurate method and can be used to confirm the results of CVS or amniocentesis.第三诊断方法，经皮脐血取样或酒吧，是最准确的方法，可以用来确认的结果，痉挛或羊膜穿刺术。 However, PUBS cannot be performed until later in the pregnancy, during the 18th to 22nd weeks, and carries the greatest risk of miscarriage.然而，酒吧无法执行，直到后来在怀孕期间，第18至第22周，并进行最大的风险流产。
New prenatal diagnostic techniques are currently being developed.新的产前诊断技术目前正在制定。 The NICHD has supported the development of a new, noninvasive test performed during the first trimester of pregnancy, that samples and separates fetal cells from the mother's blood.该NICHD支持发展的一个新的，非侵入性试验进行期间怀孕的头三个月，即样本和分离胎儿细胞从母亲的血液。 The goal is to compare the accuracy of this type of cellular level analysis with results obtained by amniocentesis or CVS.我们的目标是比较准确的这种类型的细胞水平的分析，结果获得了羊膜穿刺术或CVS 。
Diagnostic Tests for Down Syndrome 诊断试验的唐氏综合症
Amniocentesis 羊膜穿刺术
• The removal and analysis of a small sample of fetal cells from the amniotic fluid. •清除和分析小样本的胎儿细胞从羊水。
• Cannot be done until the 14-18th week of pregnancy •不能做，直到14 〜 18周妊娠
• Lower risk of miscarriage than chorionic villus sampling •降低流产的危险比绒毛取样
Chorionic Villus Sampling (CVS) 绒毛取样（ CVS ）的
• Extraction of a tiny amount of fetal tissue at 9 to 11 weeks of pregnancy •提取的少量胎儿组织在9至11周的妊娠
• The tissue is tested for the presence of extra material from chromosome 21 •该组织的测试是否存在额外的材料21号染色体
• Carries a 1-2% risk of miscarriage •带有1-2 ％的流产危险
Percutaneous Umbilical Blood Sampling (PUBS) 经脐血取样（酒吧）
• Most accurate method used to confirm the results of CVS or amniocentesis. •最准确的方法用来确定结果痉挛或羊膜穿刺术。
• The tissue is tested for the presence of extra material from chromosome 21 •该组织的测试是否存在额外的材料21号染色体
• PUBS cannot be done until the 18-22nd week •酒吧不能做，直到18 - 22周
• Carries the greatest risk of miscarriage •带有风险最大流产
Researchers are also developing a new method of diagnosis, called preimplantation diagnosis or blastomere analysis before implantation (BABI), which allows clinicians to detect chromosome imbalances before an embryo is implanted during in vitro fertilization.研究人员还开发一种新的诊断方法，所谓的胚胎植入前诊断或卵裂球植入前分析（巴比） ，让医生来检测染色体的不平衡在一个胚胎在植入体外受精。 This technique would primarily be used in couples who are at risk of passing on X-linked disorders, couples who have suffered repeated terminations of pregnancy, subfertile couples, or those at risk for single gene disorders.这项技术将主要用于夫妻谁是风险的转移X -连锁疾病，夫妻谁遭受了多次终止妊娠， subfertile夫妻，或有可能用于单基因疾病。 This technique, which allows the clinician to provide a genetic diagnosis prior to implantation, has been successful so far for cystic fibrosis, Tay Sachs disease, and Lesch-Nyhan syndrome.这项技术，这使得临床医师提供基因诊断植入前，已成功迄今囊肿性纤维化，西宁高盛疾病，自毁容貌综合症。 BABI allows a couple to begin their pregnancy knowing that the fetus is unaffected with the genetic disease of concern.巴比允许一对夫妇，开始他们知道，怀孕，胎儿不受影响的遗传性疾病的关注。 For couples at high risk, this procedure provides an alternative to prenatal testing in the first or second trimester.夫妻高风险，这个程序提供了一个替代产前检查中的第一或第二季度。
A Diagnosis of Down Syndrome 诊断唐氏综合征
A newborn baby with Down syndrome often has physical features the attending physician will most likely recognize in the delivery room.新生婴儿与唐氏综合征往往身体功能主治医生将最有可能承认产房。 These may include a flat facial profile, an upward slant to the eye, a short neck, abnormally shaped ears, white spots on the iris of the eye (called Brushfield spots), and a single, deep transverse crease on the palm of the hand.这些措施可以包括：一个单位貌，向上斜的眼睛，短脖子，耳朵形状异常，白色斑点的虹膜眼睛（称为Brushfield点） ，以及一个单一的，深刻的横向折痕的手掌。 However, a child with Down syndrome may not possess all of these features; some of these features can even be found in the general population.然而，孩子唐氏综合症可能不具备所有这些功能;一些这些功能，甚至可以发现在总人口中。
To confirm the diagnosis, the doctor will request a blood test called a chromosomal karyotype.为了确认诊断，医生会要求验血所谓的染色体核型。 This involves "growing" the cells from the baby's blood for about two weeks, followed by a microscopic visualization of the chromosomes to determine if extra material from chromosome 21 is present.这涉及到“增长”的细胞从婴儿的血液大约两个星期，随后进行了可视化的微观的染色体，以确定是否额外的材料21号染色体存在。
When parents are told that their newborn baby has Down syndrome, it is not unusual for them to have feelings of sadness and disappointment.当父母被告知，他们的新生婴儿有唐氏综合症，这是不寻常的他们有感情的悲伤和失望。 Many parents report that at the time their child is first diagnosed with Down syndrome and during the weeks that follow, they feel overwhelmed by feelings of loss and anxiety.许多家长报告说，当时他们的孩子是第一次诊断唐氏综合征和在几周的后续，他们感到不知所措的感情损失和焦虑。 While caring for a child with Down syndrome frequently requires more time and energy, parents of newborn children with Down syndrome should seek the advice of a knowledgeable pediatrician and/or the many Down syndrome support groups and organizations available.虽然照顾孩子唐氏综合征经常需要更多的时间和精力，父母与新生儿唐氏综合征应寻求意见一项知识小儿科和/或许多唐氏综合症的支持团体和组织提供。
The doctor making the initial diagnosis of Down syndrome has no way of knowing the intellectual or physical capabilities this child, or any other child, may have.医生作出初步诊断唐氏综合征也没有办法知道的知识或身体能力这个孩子，或任何其他的孩子，可能有。 Children and adults with Down syndrome have a wide range of abilities.儿童和成人唐氏综合症有着广泛的能力。 A person with Down syndrome may be very healthy or they may present unusual and demanding medical and social problems at virtually every stage of life.一个人与唐氏综合症可能是非常健康，或者他们可能本不寻常的，并要求医疗和社会问题，几乎每一个阶段的生活。 However, every person with Down syndrome is a unique individual, and not all people with Down syndrome will develop all the medical disorders discussed below.然而，每个人与唐氏综合征是一种独特的个人，而不是所有的人与唐氏综合症将开发的所有医疗疾病下文讨论。
Down Syndrome and Associated Medical Disorders 唐氏综合征及相关疾病的医疗
During the first days and months of life, some disorders may be immediately diagnosed.在第一天，几个月的生活中，一些疾病可立即诊断。
Congenital hypothyroidism, characterized by a reduced basal metabolism, an enlargement of the thyroid gland, and disturbances in the autonomic nervous system, occurs slightly more frequently in babies with Down syndrome.先天性甲状腺功能低下症，其特点是降低基础代谢，扩大甲状腺和动乱的自主神经系统，出现更频繁地小幅婴儿与唐氏综合症。 A routine blood test for hypothyroidism that is performed on newborns will detect this condition if present.例行的血液检查甲状腺功能减退症是新生儿演出将检测到这种情况，如果本。
Several other well-known medical conditions, including hearing loss, congenital heart disease, and vision disorders, are more prevalent among those with Down syndrome.其他一些知名的医疗条件，包括听力丧失，先天性心脏病，而且视力障碍，更普遍的是那些唐氏综合症。
Recent studies indicate that 66 to 89% of children with Down syndrome have a hearing loss of greater than 15 to 20 decibels in at least one ear, due to the fact that the external ear and the bones of the middle and inner ear may develop differently in children with Down syndrome.最近的研究表明， 66至89 ％的儿童与唐氏综合症有听力损失大于15至20分贝，至少在一个耳朵，这是由于外耳和骨骼中，内耳可制定不同在儿童唐氏综合症。 Many hearing problems can be corrected.许多听力问题都可以得到纠正。 But, because of the high prevalence of hearing loss in children with Down syndrome, an objective measure of hearing should be taken to establish hearing status.但是，由于普遍存在的听力损失儿童的唐氏综合症，客观衡量听证会应当采取措施，建立听证会的地位。 In addition to hearing disorders, visual problems also may be present early in life.除了听力障碍，视力问题，也可能是本月初在生活中。 Cataracts occur in approximately 3% of children with Down syndrome, but can be surgically removed.白内障发生在大约3 ％的儿童与唐氏综合症，但可以手术切除。
Approximately half of the children with Down syndrome have congenital heart disease and associated early onset of pulmonary hypertension, or high blood pressure in the lungs.大约有一半的儿童与唐氏综合症有先天性心脏病及相关的早发性肺动脉高压，或血压高的肺部。 Echocardiography may be indicated to identify any congenital heart disease.超声心动图可以表明，以查明任何先天性心脏病。 If the defects have been identified before the onset of pulmonary hypertension, surgery has provided favorable results.如果缺陷已确认发生前肺动脉高压，外科手术提供了有利的结果。
Seizure disorders, though less prevalent than some of the other associated medical conditions, still affect between 5 and 13% of individuals with Down syndrome, a 10-fold greater incidence than in the general population.检障碍，但不太普遍比其他一些相关的医疗条件下，仍然影响到5至13 ％的个人与唐氏综合征， 10倍更多的发病率比一般人群。 There is an unusually high incidence of infantile spasms or seizures in children less than one year of age, some of which are precipitated by neonatal complications and infections and cardiovascular disease.有一个非常高的发病率或婴儿痉挛发作的儿童不到一岁以下，其中有一些沉淀新生儿并发症和感染和心血管疾病。 However, these seizures can be treated with anti-epileptic drugs.然而，这些缉获可以治疗抗癫痫药物。
The incidence and severity of these associated medical ailments will vary in babies with Down syndrome and some may require surgery.的发病率和严重程度对这些疾病相关的医疗会有所婴儿与唐氏综合症和一些可能需要手术治疗。
Newborns 新生儿
Babies with Down syndrome often have hypotonia, or poor muscle tone.婴儿与唐氏综合征往往有肌无力，或穷人肌肉张力。 Because they have a reduced muscle tone and a protruding tongue, feeding babies with Down syndrome usually takes longer.因为他们减少肌肉张力和突出的舌头，喂养婴儿唐氏症通常需要更长的时间。 Mothers breast-feeding infants with Down syndrome should seek advice from an expert on breast feeding to make sure the baby is getting sufficient nutrition.母亲哺乳婴儿唐氏综合征应征询意见的专家母乳喂养，以确保宝宝获得足够的营养。
Hypotonia may affect the muscles of the digestive system, in which case constipation may be a problem.肌无力可能会影响肌肉的消化系统，在这种情况下，便秘可能是个问题。 Atlantoaxial instability, a malformation of the upper part of the spine located under the base of the skull, is present in some individuals with Down syndrome.寰枢椎不稳，一个畸形的上部脊椎位于颅底，目前在一些个人与唐氏综合症。 This condition can cause spinal cord compression if it is not treated properly.这种情况可能会导致脊髓压迫症如果不经适当处理。
Infants and Preschool Children 婴幼儿和学龄前儿童
Medical care for infants with Down syndrome should include the same well-baby care that other children receive during the first years of life, as well as attention to some problems that are more common in children with Down syndrome.医疗保健婴幼儿唐氏综合征应包括相同以及婴儿护理，其他儿童获得在最初几年的生命，以及注意一些问题，这些问题较常见于儿童的唐氏综合症。 If heart, digestive, orthopedic or other medical conditions were identified during the neonatal period, these problems should continue to be monitored.如果心脏，消化，骨科或其他医疗条件，确定在新生儿期，这些问题应继续进行监测。
During the early years of life, children with Down syndrome are 10-15 times more likely than other children to develop leukemia, a potentially fatal disease.在最初几年的生活，儿童与唐氏综合征是10-15倍的可能性比其他儿童白血病的发展，一个潜在致命的疾病。 These children should receive an appropriate cancer therapy, such as chemotherapy.这些孩子应该得到适当的治疗癌症，如化疗。 Infants with Down syndrome are also more susceptible to transient myelodysplasia, or the defective development of the spinal cord.婴幼儿唐氏综合征也更容易受到短暂脊髓发育不良，或有缺陷的发展，脊髓。
Compared to the general population, individuals with Down syndrome have a 12-fold higher mortality rate from infectious diseases, if these infections are left untreated and unmonitored.相对于总人口，个人与唐氏综合症有一个12倍的死亡率较高的传染病，如果这些感染不及时治疗和监测。 These infections are due to abnormalities in their immune systems, usually the t-cell and antibody-mediated immunity functions that fight off infections.这些感染是由于其异常的免疫系统，通常是T细胞和抗体介导的免疫功能，抵御感染。 Children with Down syndrome are also more likely to develop chronic respiratory infections, middle ear infections, and recurrent tonsillitis.儿童与唐氏综合征也更容易拟定慢性呼吸道感染，中耳感染，扁桃体炎和经常性。 In addition, there is a 62-fold higher incidence of pneumonia in children with Down syndrome than in the general population.此外，还有62倍肺炎的发病率在儿童唐氏综合症比一般人群。
Children with Down syndrome may be developmentally delayed.儿童与唐氏综合症可能是发展迟缓。 A child with Down syndrome is often slow to turn over, sit, stand, and respond.儿童与唐氏综合征往往是缓慢的移交，坐下，站立，并作出反应。 This may be related to the child's poor muscle tone.这可能是有关儿童的贫困肌肉张力。 Development of speech and language abilities may take longer than expected and may not occur as fully as parents would like.发展语言能力可能需要比预期更长的时间，并可能不会出现全面的父母想。 However, children with Down syndrome do develop the communication skills they need.然而，儿童做唐氏综合症发展沟通技巧，他们的需要。
Parents of other children with Down syndrome are often valuable sources of information and support.家长与其他儿童唐氏综合征往往是宝贵的信息来源和支持。 Parents should keep in mind that children with Down syndrome have a wide range of abilities and talents, and each child develops at his or her own particular pace.父母应该记住，儿童与唐氏综合征有一系列广泛的能力和才智，而且每个孩子的发展在他或她自己的特别步伐。 It may take children with Down syndrome longer than other children to reach develop mental milestones, but many of these milestones will eventually be met.它可采取儿童与唐氏综合征长于其他儿童达到开发智力的里程碑，但其中许多里程碑最终将得到满足。 Parents should make a concerted effort not to compare the developmental progress of a child with Down syndrome to the progress of other siblings or even to other children with Down syndrome.家长应作出协调一致的努力没有比较的发展进步的一个孩子，唐氏综合征的进展，其他的兄弟姐妹或什至与其他儿童唐氏综合征。
Early Intervention and Education 早期干预和教育
The term "early intervention" refers to an array of specialized programs and related resources that are made available by health care professionals to the child with Down syndrome.所谓“早期干预”是指各种专门的程序和相关资源，提供了医疗保健专业人员，儿童与唐氏综合症。 These health care professionals may include special educators, speech therapists, occupational therapists, and social workers.这些健康护理专业人员可包括特别教育工作者，言语治疗师，职业治疗师，和社会工作者。 It is recommended that stimulation and encouragement be provided to children with Down syndrome.这是建议，刺激和鼓励提供给儿童的唐氏综合症。
The evaluation of early intervention programs for children with Down syndrome is difficult, due to the wide variety of experimental designs used in interventions, the limited existing measures available that chart the progress of disabled infants, and the tremendous variability in the developmental progress among children with Down syndrome, a consequence in part of the many complicating medical factors.评价早期干预对儿童节目与唐氏综合征是困难的，由于各种各样的实验设计中使用的干预，有限的现有措施的推出，图表的进展残疾婴儿，和巨大的变异性的发展进步与儿童唐氏综合症，因此在部分医疗许多复杂的因素。 While many studies have been conducted to assess the effects of early intervention, the information is limited and contradictory regarding the long-term success of early intervention for children with Down syndrome.虽然许多研究已进行了评估的影响早期干预，信息是有限的，矛盾就长期成功的早期干预对儿童与唐氏综合症。
However, federal laws (Public Law 94-12) are in place to ensure each state has as a goal that "all handicapped children have available to them a free public education and related services designed to meet their unique needs."但是，联邦法律（公法94-12 ） ，以确保每个国家都作为一个目标， “所有残疾儿童都向他们提供免费的公共教育和相关服务，以满足其独特需求。 ” The decision of what type of school a child with Down syndrome should attend is an important one, made by the parents in consultation with health and education professionals.决定什么类型的学校的儿童与唐氏综合征应出席是一个重要的，所取得的父母协商，教育和医疗专业人员。 A parent must decide between enrolling the child in a school where most of the children do not have disabilities (inclusion) or sending the child to a school for children with special needs.家长必须决定招收之间的儿童在一所学校，大多数的孩子没有残疾（包含）或送孩子到一所学校有特殊需要的儿童。 Inclusion has become more common over the past decade.列入已变得越来越常见，在过去的十年。
Adolescence 青春期
Like all teenagers, individuals with Down syndrome undergo hormonal changes during adolescence.像所有的青少年，个人与唐氏综合征接受荷尔蒙在青春期的变化。 Therefore, teenagers with Down syndrome should be educated about their sexual drives.因此，青少年与唐氏综合症应该教育他们的性驱动器。 Scientists have medical evidence that males with Down syndrome generally have a reduced sperm count and rarely father children.科学家们的医疗证据显示，男性唐氏症通常有精子数减少，很少孩子的父亲。 Females with Down syndrome have regular menstrual periods and are capable of becoming pregnant and carrying a baby to term.女性唐氏症定期的月经周期，并能够成为孕妇和携带婴儿任期。
Adults with Down Syndrome 成人唐氏综合症
The life expectancy for people with Down syndrome has increased substantially.预期寿命为人民唐氏综合征已大大增加。 In 1929, the average life span of a person with Down syndrome was nine years. 1929年，平均寿命的人与唐氏综合症是九年。 Today, it is common for a person with Down syndrome to live to age fifty and beyond.今天，是很平常的一个人与唐氏综合征活到五十岁以后。 In addition to living longer, people with Down syndrome are now living fuller, richer lives than ever before as family members and contributors to their community.此外，长寿，人与唐氏综合症现在正生活全面，更丰富的生活比以往任何时候都作为家庭成员和贡献者他们的社区。 Many people with Down syndrome form meaningful relationships and eventually marry.许多人与唐氏综合症形式有意义的关系，并最终结婚。 Now that people with Down syndrome are living longer, the needs of adults with Down syndrome are receiving greater attention.现在，人们唐氏综合征是活得更长，需要的成人唐氏综合症得到更大的重视。 With assistance from family and caretakers, many adults with Down syndrome have developed the skills required to hold jobs and to live semi-independently.随着援助的家庭和照顾，许多成人与唐氏综合症发展所需的技能进行工作和生活的半独立。
Premature aging is a characteristic of adults with Down syndrome.过早老化的一个特点是成年人的唐氏综合症。 In addition, dementia, or memory loss and impaired judgment similar to that occurring in Alzheimer disease patients, may appear in adults with Down syndrome.此外，老年痴呆，或记忆丧失和判断力类似发生在阿尔茨海默病的患者，可能会出现在成年人的唐氏综合症。 This condition often occurs when the person is younger than forty years old.这种情况经常发生时，该人是年龄小于40岁。 Family members and caretakers of an adult with Down syndrome must be prepared to intervene if the individual begins to lose the skills required for independent living.家庭成员和照料成人唐氏综合症必须准备进行干预，如果个人开始失去所需的技能独立生活。
Down Syndrome in the Workplace 唐氏综合征在工作场所
The Americans with Disabilities Act (ADA) makes it illegal for an employer of more than 15 individuals to discriminate against qualified individuals in application procedures, hiring, advancement, discharge, compensation, job training, and other terms of employment.在美国残疾人法案（腺苷脱氨酶）是违法的雇主15个以上的个人歧视合格的个人在申请手续，聘用，晋升，解雇，报酬，职业培训，和其他雇用条件。 The ADA requires that an employer provide reasonable accommodation for individuals who are qualified for a position.该反倾销协定规定，雇主提供合理的便利为个人谁是合格的立场。 More information about the ADA can be obtained from the Office of Civil Rights of the US Department of Health and Human Services, Washington, DC, 20201.更多信息腺苷脱氨酶可从办公室的公民权利的美国卫生与人类服务部，华盛顿特区， 20201 。
Future Directions in Down Syndrome Research 未来的方向在唐氏综合症的研究
Recently, it has been suggested that children with Down syndrome might benefit from medical intervention that includes amino acid supplements and a drug known as Piracetam.最近，有人认为儿童唐氏综合症可能受益于医疗干预，其中包括氨基酸补充剂和药物称为脑复康。 Piracetam is a psychoactive drug that some believe may improve cognitive function.吡拉西坦是一种精神药物，有些人认为可改善认知功能。 However, there have been no controlled clinical studies conducted to date using Piracetam to treat Down syndrome in the US or elsewhere that show its safety and efficacy.然而，还没有控制的临床研究进行了迄今为止使用脑复康治疗唐氏综合征在美国还是在其他地方，显示它的安全性和有效性。
Down syndrome researchers have developed a mouse model to analyze the developmental consequences of Down syndrome.唐氏综合征的研究人员开发出一种小鼠模型来分析发展造成的后果唐氏综合征。 Mice are used because a large stretch of mouse chromosome 16 has many genes in common with those on human chromosome 21.小鼠的使用，因为一个大伸展的小鼠16号染色体有许多共同的基因与那些对人类21号染色体。 Studying these models at varying stages of development will enhance our basic understanding of Down syndrome and facilitate the development of effective interventions and treatment strategies.研究这些模式在不同的发展阶段将加强我们基本的了解唐氏综合征和促进发展的有效干预和治疗战略。
Questions and Answers about Down Syndrome 问答唐氏综合症
• Is Down syndrome a rare genetic disorder? •是否唐氏综合症一种罕见的遗传性疾病？
Down syndrome occurs in 1 in 800 births.唐氏综合征发生在1 800万分之一。
• Do only older women give birth to babies with Down syndrome? •不要只有老年妇女生下的婴儿与唐氏综合征？
Researchers have established that the likelihood that a reproductive cell will contain an extra copy of chromosome 21 increases dramatically as a woman ages.研究人员已经确定的可能性，生殖细胞将包含一个额外的副本21号染色体急剧增加作为一名女性，年龄。 Therefore, an older mother is more likely than a younger mother to have a baby with Down syndrome, but older mothers account for only about 9% of all live births each year and 25% of Down syndrome births.因此，老年人的母亲更有可能比年轻的母亲有一个孩子与唐氏综合症，但高龄产妇只占约9 ％的所有活产婴儿每年25 ％的唐氏综合征产。
• Are all people with Down syndrome severely retarded? •是否所有的人与唐氏综合症严重弱智？
Most people with Down syndrome have IQ's that fall in the mild to moderate range of retardation.大多数人与唐氏综合症有智商的是属于轻度到中度范围的迟钝。 Some are so mildly affected that they live independently and are gainfully employed.有些人因此受影响轻微，他们独立生活和有酬就业。
• Can people with Down syndrome receive proper care at home? •能否人民唐氏综合征得到适当的照顾在家吗？
Home-based care and community living give them the opportunity to socialize and benefit from such interactions.家庭护理和社会生活让它们有机会社交，受益于这种相互作用。
• Should all children with Down syndrome be placed in special education classrooms? •如果所有儿童与唐氏综合征放在特殊教育教室？
While federal laws have been established to insure that all handicapped children have access to public education, children with Down syndrome can and have been included into a regular classroom.虽然联邦法律已经建立，以保证所有的残疾儿童有机会获得公共教育，儿童与唐氏综合征能，并已纳入正常课堂。
• Is there a cure for Down syndrome? •是否有一种治疗唐氏综合症？
Researchers have identified the genes that cause the characteristics of Down syndrome and are working to further develop mouse models, at varying stages of development, in order to enhance their basic understanding of Down syndrome and facilitate the development of effective interventions and treatment strategies.研究人员已经发现的基因导致的特点唐氏综合征，并正在努力进一步发展小鼠模型，在不同的发展阶段，以提高他们的基本的了解唐氏综合征和促进发展的有效干预和治疗战略。
Source: National Institutes of Health资料来源：美国国立卫生研究院
|
|
This Category is currently empty此类别目前空
| |
|