Down syndrome is the most common cause of mental retardationDown syndrome is the most common cause of mental retardation. It is caused by the presence of an extra chromosome. Chromosomes contain sequences of DNA called genes that represent the genetic information that exists within a cell. Twenty-three distinctive pairs of chromosomes which is 46 in total. They are located within the nucleus (a region of the cell that is bounded by a specialized membrane, and which houses the genetic material).
When a sperm cell fertilizes an egg cell, the newly created zygote normally receives 23 chromosomes from each parent. The contribution of genetic information from each parent is what makes each baby a distinctive blend of both characteristics. In Down syndrome a mistake during division of the sperm or egg cell produces a cell with an extra chromosome 21. This event occurs during cell division and is referred to as nondisjunction, or the failure of all chromosomes to separately properly resulting in retention of one of the chromosomes in one of the two new daughter cells.
This is also called trisomy 21 and is accounted for 95% of all Down syndrome patients. A rare number of Down syndrome cases the original egg and sperm cells begins with the correct number of chromosomes but shortly after fertilization during the phase where cells are dividing rapidly a single cell can divide abnormally creating a line of cells with an extra chromosome 21. It’s called a cell line mosaicism. The individual with this type of down syndrome has two types of cells: some 46 chromosomes which is the normal number and some with 47.
Individuals who are mosaic for trisomy 21 typically have less sever sign and symptoms of the disorder. Another are location that can cause down syndrome is called a chromosome translocation. This is an even that unlike the numerical abnormally causing trisomy 21, there is a structural abnormality. Exchange of material from two different chromosomes during the production of sex cells can take place such that there is a whole chromosome 21 attached to another chromosome but the chromosome number is normal. These types of translocation involving chromosome 21, occur in about 3-4% of cases of Down syndrome.
Ancient cultures, such as those in Greece, Rome, and Egypt, put disabled infants to death. Compassion toward the disabled was awakened by the early Christian church, but its charitable influence waned during the middle ages. Down syndrome also affected this people due to no one really caring about what was going on with the ill children. Down syndrome has a lot of causes and this is normally what some parents want to know is why their child is born with this syndrome. Most times this is why they tell you while you are carrying your child you need to watch very closely and look for all signs of genetic disorders with pregnant.
Down syndrome is a chromosomal disorder as I said before. A baby is usually identified at birth through observation of a set of common physical characteristics. Babies with Down syndrome tend to be overly quiet. When I say that I mean less responsive with weak floppy muscles. With that being said a number of physical signs might be present. This includes a flat bridge of the nose which is smaller than normal. It’s a low set nose. They will tend to have a small mouth with a protruding tongue, upward slanting eyes and also extra folds of skin located at the corner of each eye, near the nose.
They will have small outwardly rotated ears and small hands as well. Usually they have an unusual deep crease across the center of the palm and a malformed fifth finger. They will have a wide space between the big and the second toes and unusual creases on the soles of the feet. They also experience shorter than normal height later on in their childhood. Before genetic testing became available, Down syndrome was diagnosed based on certain typical physical characteristics. Not all people with Down syndrome have all these characteristics though.
This can vary from certain people and are caused by the extra chromosomes. Individuals with Down syndrome also have joints that are looser than normal. Their skulls are short and broad. Newborns usually have extra skin on the back of their neck, and as the child gets older the neck often appears short and wider than usual. Facial shape is round in the newborn and also during infancy. When the child gets older their face shape becomes oval like. This is due to the underdevelopment they go through. Their cheeks are round and the teeth develop late and in an unusual order.
Although Down syndrome is not curable and there will be no cure for it, parents, researchers, and also the Down syndrome individuals try to make the best out of life and try dealing with it. Advances in medical treatment over the past 40 to 50 years for conditions such as heart defects and respiratory disease have led to dramatic increases in the life expectancy of those with Down syndrome.  Half of the children born with Down syndrome during the late 1960s survived to age 5. Bronchopneumonia, a respiratory illness and heart defects were the most common causes of death.
Now about 80% of those born with it survive to age 10, and about 50% of them survive to age 50 or beyond. The recent statistics from various study places show that the place of incidence of Down syndrome anywhere from 1 in 600 to 1 in 1,000 live births. An analysis published by various people. Bray and colleagues in 1998 of combined data from nine different studies found that the incidence varies from 1 in 1,445 live birth mothers at age 10 to 1 in 25 live births to mothers at age 45. Down syndrome really is a hard disorder to live with but at the same time it has its advantages.
Down syndrome has no treatment options but they have a lot of programs to help cope with this syndrome. The development of a child is a joyous thing. It involves amazing ohhs and ahhhs that would shock you every day your child does something new. All kids from the time their able to sit up by them and walks are learning new things everyday. Even as adults we learn new things everyday but still with Down syndrome, everything that they accomplish is outstanding. All kids learn to develop their fine motor skills but there are different aspects when it comes to Down syndrome children.
The development of motor skills is very hard. The first thing you have to do is have a laid out foundation of how you plan on teaching that child. This is very dependent on stability. Stability is being able to push open a heavy door. It’s being able to put on your shoes without falling. It is carrying a tray full of drinks. Its really a list that goes on but with this syndrome most things aren’t accomplished because down syndrome babies lack stability. Most of the people diagnosed wit this syndrome also tends to walk a little strange. They walk from side to side and always have their head twisted.
Now as kids get older and reach their age past ten, then your not exactly ok, but you can breathe a little. Most researchers are still concerned about the older ones but its really the babies that most are worried about. They tend to go through a lot as newborns and unto there early infants stages.  Babies with Down syndrome suffer a lot. They have a lot they feel and go through, but being an infant and not being able to talk doesn’t help at all. Being born with Down syndrome you experience how it is from that point on and for the rest of your life.
Children with this syndrome almost always have some degree of intellectual disability. That is why they learn slower and have difficulty with complex reasoning and judgment. The degree of intellectual impairment various tremendously. These kids do learn and what they do learn they will not forget. Down syndrome can not be prevented but it is People with Down syndrome, whatever their age, are people first. They are people with abilities, strengths and weaknesses like everyone else. They may have additional needs but first they have the same needs as everyone else of their age group.
The quality of health care, education and community support provided to children and adults with Down syndrome makes a real difference to their progress throughout life. This module provides an introduction to all the issues that need to be addressed to enable individuals with Down syndrome, and their families, to enjoy full and happy lives within their communities. It offers an overview of the development of individuals with Down syndrome from infancy to adult life. It also provides a summary of the causes of Down syndrome, the incidence and prevalence of the condition, life expectancy and associated education and health care needs.
Children with down syndrome experience problems with their digestive tract at a rate that is much higher than that of other children.  some of these problems such as blockage of the digestice tract can be life threatening and can require emergency surgery. Blockage or atresia of the esophagus or the duodenum can cause starvation if not corrected. Atresia occurs when the anal opening does not develop. This condition prevents solid waste from being eliminated from the intestinal tract and must be corrected surgically. Anal stenosis will allow waste products to pass, but will cause constipation.
Gastroesophageal feflux is also more common in individuals with down syndrome. During this stage food reenters the esophagus from the stomach. This can cause vomiting and irritation of the esophagus. You can also have vision problem s with down syndrome to. Theses problems are common with those suffering with down syndrome. Strabismus in which one or both euyes either truns in or out. Occurs in 43% of theses chuldren. It is caused by abnormal or incomplete development of the cneters in the brain that control the coordination of eye movements. This condition may require an eye patch, special glasses or even surgery.
Vision therapy may also be benificial and should be considered before surgery. Hearing problems also come with syndrome.  anatomical differences that result from trisomy 21 contribute to the larger percentage of hearing difficulties founf in individuals with down syndrome. Appromately 53% in children with down syndrome have hearing problems. This makes it more difficult to examine the ars for wax buildup and infection. The middle ear is smaller than normal, as well. This contributes to the presence of chronic ear infections in 40% to 60% of children with downs syndrome.
The shallow nasal bridge founfd in 61% of individuals with down syndrome also contributed. Collapse or blockage of the eustachian tube, which leads from the ear to the throat, causes fluid to build up in the middle ear and increases the risk of middle ear infection. In children with down syndrome the eustachian tubes are often smaller tha normal and have lowered muscle tone. Problems with fluid build up in the middle ear occur in 60% of indiviuals with down syndrome this fluid buildup interferes with hearing and can cause permanent hearing loss if it remains for a long peopif of time.
Estimates of hearing loss in people with down syndrome range from 60% to 80%. Hearing loss in children can contribute to language and speech difficulies as well as auditory attention. Monitoring for fluid buildup and infections of the middle ear should begin before the age of six months and should continue into adulthood. Hearin aids may be a choice as well. Another problem that occurs in down syndrome individuals is problems with thyroid gland. Weighing less than one ounce the thyroid is actually one of the largest endocrine glands. Thyroid hormones help regualte the synthesis of growth factore and many hormones.
Thyroid hormones are crucial for proper brain development during pregnancy. They are also important in normal growth. Because they are composed of the amino acid tyrosine, to which iodine molecules have been atattched adequate iodine in the diet is esstenial for their production. Another hormone produced by the thyroid gland is calcitonin which regulates the levels and metabolism of calcium. The hormones tri-iodothyonine and tetraiodothyonine are produced by the thyroid gland in a ratio of 1;14. t4 is secreted by the thyroid gland in responses to TSH. The active form, T3 is formed in the kidney, liver, and pleen by removal of one iodine molecule from T4. individuals with down syndrome also are 10 to 30 times more likely to develop Leukemia.  This is a type of cancer caused by the production of abnormal qhite blood cells by the bone marrow. These abnormal cells eventually crowd out normal white and red blood cells. There are two main types of leukemia. Acute and chronic. Acute leukemias develop slowly and the patienst condition worsens slowly. Chronic leukemia develops rapidly and the patients syptoms worsen quickly. About 10% of babies born with down syndrome develop a transient leukemia that usually goes away by 3 months of age.
About 20% to 30% of those with this transient condtion go on to develop acute leukemia. Babies who do not have down syndrome rarely have the transient form of leukemia. This higher risk of leukemia is in contrast to the risk of other types of cancer in individuals with down syndrome. The incidence of most types of solid tumors is muh smaller than in the general population. Down syndromes rates has also increased. From 1979 to 2003, the prevalence (total number of cases of a disease in a population at a specific time) of Down syndrome (DS) at birth increased by 31 percent, from 9 to 12 per 10,000 live births in 10 US regions.
Within the 10 regions, birth prevalence of DS ranged from a low of 9. 7 in Arkansas to a high of 13. 7 in Utah during 1997-2003. The number of infants born with DS was almost 5 times higher among births to older mothers (38. 6 per 10,000) than among births to younger mothers (7. 8 per 10,000). In 2002, DS was found to be present in about 1 of every 1,000 children and adolescents aged 0 to 19 living in 10 chosen regions of the United States, which means that approximately 83,000 children and adolescents with DS were living in the United States during that year. Prevalence of DS by age group was the highest in 0-3 year olds at 11. , declining to 10. 3 among 4-7 year olds, 9. 8 among 8-11 year olds, 8. 3 among 12-15 year olds, and 6. 0 among 16-19 year olds. A screening test will help identify the possibility of Down syndrome. Screening tests do not provide conclusive answers, but rather, they provide an indication of the likelihood of the baby having Down syndrome. An abnormal test result does not mean that your baby has Down syndrome. The goal with a screening test is to estimate the risk of t baby having Down syndrome. If the screening test is positive and a risk for Down syndrome exists, further testing may be recommended.
Diagnostic tests can identify Down syndrome before the baby is born. January issue of Obstetrics & Gynecology, the American College of Obstetricians and Gynecologists released guidelines recommending screening for Down syndrome to all pregnant women during their first trimester. Agnostic tests tend to be more expensive and have a degree of risk; screening tests are quick and easy to do. However, screening tests have a greater chance of being wrong; there are “false-positive” (test indicates the baby has the condition when the baby really does not) and “false-negatives” (baby has the condition but the test indicates they do not).
As far as those individual kids with Down syndrome there is a lot that they can do, just as the regular ones. Kids with Down syndrome tend to have a sense of humor. Those with this disorder have slurred words and stutter but what you can understand they have pretty good conversation. Also in about 4 percent of all down syndrome cases the individual possesses not an entire third copy of chromosome 21 material, which has been incorporated via a translocation into a no homologous chromosome. In translocation pieces are swapped between two non-related chromosomes forming hybrid chromosomes.
The most common translocation associated with Down syndrome is that between the long arm (down gene area) of chromosome 21 and an end of chromosome 14.  The individual in whom the translocation has occurred shows no evidence of the aberration since the normal complement of genetic material is still present only a different chromosomes location. The difficulty arises when this individual forms gametes. A mother who possesses the 21/14 translocation, for example has one normal 21 one normal 14 and the hybrid chromosomes.
She is a genetic carrier for the disorder because she can pass it on to her offspring even though she is clinically normal. The mother can produce three types of viable gametes: one containing the normal 14 and 21. the presence of an extra copy of the long arm of chromosome 21 causes defects in many tissues and organs. One major effect of Down syndrome is mental retardation. The intelligence quotients of affected individuals are typically in the range of 40-50. The IQ varies with age but being higher in childhood than in adolescence or adult life.
The disorder is often accompanied by physical traits. Trisomy 21 is one of the most common chromosomal aberrations occurring in about 0. 5 percent of all conceptions and in one out of every seven hundred to eight hundred live births. About 15 percent of the patients institutionalized for mental deficiency suffer from Down syndrome. Before the chromosomal basis for the disorder was determined the frequency of Down syndrome births was correlated with increased maternal age. For mothers at age twenty the incidence of down syndrome is about 0. 5 percent which increases to 0. 9 percent by the age thirty-five and 3 percent at age forty-five. Comparing the chromosomes of the affected offspring with those of both parents have shown that the nondisjunction event is maternal about 75 percent the time. The maternal age effect is thought to result from the different manner in which the male and female gametes are produced. Gamete production in the male event in females. Formation of the female’s gametes begins early in embryonic life, somewhere but between the eight and twentieth weeks.
During this time, cells in the developing ovary divide rapidly by mitosis forming cells called primary oocytes. These cells then begin meiosis by pairing up the homologues. The process is interrupted now and the cells are held in a state of suspended animation until needed in reproduction, when they are triggered to complete their division. Most individuals with Down syndrome have intellectual disability in the mild (IQ 50–70) to moderate (IQ 35–50) range, with individuals having Mosaic Down syndrome typically 10–30 points higher. Dr.
Weihs notes the mental qualities of people with Down syndrome to be “unisexual,” “playful,” “affectionate,” “mischievous” and “imitative”. Language skills show a difference between understanding speech and expressing speech, and commonly individuals with Down syndrome have a speech delay. Fine motor skills are delayed and often lag behind gross motor skills and can interfere with cognitive development. Effects of the condition on the development of gross motor skills are quite variable. Some children will begin walking at around 2 years of age, while others will not walk until age 4.
Physical therapy, and/or participation in a program of adapted physical education (APE), may promote enhanced development of gross motor skills in Down syndrome children. A 2002 literature review of elective abortion rates found that 91–93% of pregnancies in the United Kingdom and Europe with a diagnosis of Down syndrome were terminated.  Data from the National Down Syndrome Cytogenetic Register in the United Kingdom indicates that from 1989 to 2006 the proportion of women choosing to terminate a pregnancy following prenatal diagnosis of Down syndrome has remained constant at around 92%.
In the United States a number of studies have examined the abortion rate of fetuses with Down syndrome. Three studies estimated the termination rates at 95%, 98%, and 87% respectively. Medical ethicist Ronald Green argues that parents have an obligation to avoid ‘genetic harm’ to their offspring, and Claire Rayner, then a patron of the Down’s Syndrome Association, defended testing and abortion saying “The hard facts are that it is costly in terms of human effort, compassion, energy, and finite resources such as money, to care for individuals with handicaps…
People who are not yet parents should ask themselves if they have the right to inflict such burdens on others, however willing they are themselves to take their share of the burden in the beginning some physicians and ethicists are concerned about the ethical ramifications of the high abortion rate for this condition.  Conservative commentator George Will called it “eugenics by abortion”. 60] British peer Lord Rix stated that “alas, the birth of a child with Down’s syndrome is still considered by many to be an utter tragedy” and that the “ghost of the biologist Sir Francis Galton, who founded the eugenics movement in 1885, still stalks the corridors of many a hospital”. Doctor David Mortimer has argued in Ethics & Medicine that “Down’s syndrome infants have long been disparaged by some doctors and government bean counters. Some members of the disability rights movement “believe that public support for prenatal diagnosis and abortion based on disability contravenes the movement’s basic philosophy and goals.
Peter Singer argued that “neither hemophilia nor Down’s syndrome is so crippling as to make life not worth living from the inner perspective of the person with the condition. To abort a fetus with one of these disabilities, intending to have another child who will not be disabled, is to treat fetuses as interchangeable or replaceable. If the mother has previously decided to have a certain number of children, say two, then what she is doing, in effect, is rejecting one potential child in favor of another.
She could, in defence of her actions, say: the loss of life of the aborted fetus is outweighed by the gain of a better life for the normal child who will be conceived only if the disabled one dies. Individuals with Down syndrome have a higher risk for many conditions. The medical consequences of the extra genetic material in Down syndrome are highly variable and may affect the function of any organ system or bodily process. Some problems are present at birth, such as certain heart malformations. Others become apparent over time, such as pilepsy. Other things Down syndrome patients go through are very emotional. For people with Down syndrome it is very hard to cope with the everyday activities. It is also hard on the family, especially the parents. It can be very frustrating for the parents to cope with having a child with Down. People born with Down syndrome require so much more extra attention than that of a normal child. Suggestions from some psychologists are for the parents to go to some kind of group sessions to talk to other parents who have children with Down.
Therefore, someone else can understand the frustrations that they go through in raising their child. People with Down syndrome have a lot of different emotions running through their mind and body. People with Down syndrome, whatever their age, are people first. They are people with abilities, strengths and weaknesses like everyone else. They may have additional needs but first they have the same needs as everyone else of their age group. The quality of health care, education and community support provided to children and adults with Down syndrome makes a real difference to their progress throughout life.
This module provides an introduction to all the issues that need to be addressed to enable individuals with Down syndrome, and their families, to enjoy full and happy lives within their communities. It offers an overview of the development of individuals with Down syndrome from infancy to adult life. It also provides a summary of the causes of Down syndrome, the incidence and prevalence of the condition, life expectancy and associated education and health care needs. Further modules in this series address each of these issues in detail.
Down syndrome patients also have another way to look at things. The most of the time feel different and out of place. Most would like to know who Down syndrome affects. For instance what race and what are the ratios of living past a teenager Children and adults with Down syndrome have a wide range of abilities. A person with Down syndrome may be very healthy or may have unusual and demanding medical and social problems at virtually every stage of life. It’s important to remember that every person with Down syndrome is a unique individual. Each child will develop at his or her own pace.
It may take children with Down syndrome longer than other children to reach develop Down syndrome cannot be cured. However, early treatment can help many people with Down syndrome to live productive lives well into adulthood. Children with Down syndrome can often benefit from speech therapy, occupational therapy, and exercises to help improve their motor skills. They might also be helped by special education and attention at school. Some of the medical problems common in people with Down syndrome, like cataracts, hearing problems, thyroid problems, and seizure disorders, can be also treated or corrected.
It has been suggested that children with Down syndrome might benefit from medical treatment that includes amino acid supplements and a drug known as Piracetam. Piracetam is a drug that some people believe may improve the ability of the brain to learn and understand. However, there have been no controlled clinical studies with Piracetam to date in the U. S. or elsewhere that show its safety and efficacy. The life expectancy for people with Down syndrome has increased substantially. In 1929, the average life span of a person with Down syndrome was nine years. Today, it is common for a person with Down syndrome to live to age 50 and beyond.
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. Many people with Down syndrome form meaningful relationships and eventually marry. Now that people with Down syndrome are living longer, the needs of adults with Down syndrome are receiving greater attention. With assistance from family and caretakers, many adults with Down syndrome have developed the skills required to hold jobs and to live semi-independently mental milestones, but many of these milestones will eventually be met.