Down syndrome is a genetic disease caused by three major factors, genetics, chromosome formation and cell division. Through scientific research, scientists have made vast discoveries on how to “treat” people with the disease and how to help families cope with a child with Down syndrome. Through our research we hope to make more people aware of Down syndrome, how it is caused, how they can help and what is being done to treat people with the disease, so that one day it may be “curable.”
Down’s syndrome was discovered in the late 19th century by John Langdon Down. His scholarly work published in 1866 earned him the recognition as the “father” of the syndrome. “Jerome Lejeune identified Down syndrome as a chromosomal anomaly. Down syndrome is an extra partial or complete 21st chromosome, which results in the characteristics associated with Down syndrome.” “It is characterized by low muscle tone, flat facial profile, oblique palpebral fissures, dysplastic ear, single deep crease across the center of the palm, hyperflexibility, dysplastic middle phalanx of the fifth finger, epicanthal folds-small skin folds on the inner corner of the eyes, excessive space between large and second toe, and enlargement of tongue in relationship to size of mouth.”
One of the causes of Down syndrome is genetics. “Genetics are grouped along rod-like structures called chromosomes. Normally, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent.” However, in Down syndrome, the cells usually contain not 46, but 47 chromosomes; with the extra chromosome being a number 21. Because 95 percent of all cases of Down syndrome occur because there are three copies of the 21st chromosome, it is referred to as “trisomy 21.” Chromosomes can be studied by examining blood or tissue cells. Individual chromosomes are identified, stained, and numbered from largest to smallest; this visual display is known as a karyotype.
Another way that Down syndrome is caused is through cell division; usually through an error in non-disjunction. However, two other types of chromosomal abnormalities, mosaicism and translocation, are also implicated in Down syndrome-although to a lesser extent. Regardless of the type of Down syndrome, all people with Down syndrome have an extra 21st chromosome, which adds more genetic material, altering the course of development. “Nondisjunction is a faulty cell division which results in an embryo with three number 21 chromosomes instead of two. Prior to, or at, conception, a pair of number 21, in either the sperm or the egg, fail to separate.” As the embryo develops, the extra chromosome is replicated in every cell of the body. This faulty cell division is responsible for 95 percent of all cases of Down syndrome. It has been postulated that some environmental factors may be implicated in nondisjunction. However, the causes of nondisjunction are unknown even with years of research.
Mosaicism occurs when nondisjunction of the 21st chromosome takes place in one of the initial cell divisions after fertilization. “When this occurs, there is a mixture of two types of cells, some containing 46 chromosomes and some containing 47. Those cells with 47 chromosomes contain an extra 21st chromosome.” Because of the “mosaic” pattern of the cells, the term mosaicism is used. Some research has shown that individuals with mosaic Down syndrome are less affected than those with trisomy 21. However, broad generalizations are not possible due to the wide range of abilities that people with Down syndrome possess.
The last cause of Down syndrome is translocation. Translocation is a different type of chromosomal problem and occurs in only three to four percent of people with Down syndrome. “Translocation occurs when part of the number 21 chromosome breaks off during cell division and attaches to another chromosome. While the total number of chromosomes in the cells remains 46, the presence of an extra part of the number 21 chromosome causes the features of Down syndrome.” As with nondisjunction trisomy 21, translocation occurs either prior to or at conception. Translocation is not linked to maternal age, unlike nondisjunction. “Most cases are sporadic, chance events. However, in about one-third of cases, one parent is a carrier of a translocated chromosome. For this reason, the risk of recurrence for translocation is higher than that of nondisjunction.” Genetic counseling can be sought to determine the origin of the translocation.
Down syndrome is a disease that is very hard to understand. When a child has Down syndrome there are certain characteristics that set the child apart form other children. When we take a look at Down syndrome we need to understand that the physical features will be different than that of a normal developing child. The tiresome 21 that cause Down syndrome affect many areas of development. The area of development that are seen most of the time is the physical features meaning the face and their height.
When a person has Down syndrome they will look slightly different. The child’s head will be smaller than average. The nose tends to be smaller and the bridge of the nose seems to be somewhat low. The eyes are slightly different from the average. The child with Down syndrome their eyes are slanted upwards. The child’s mouth is relatively small and the roof of the mouth a bit short. These are just a few characters of a child with Down syndrome. Theses are different but they are very special children and should be treated the same as an average child.
The next feature that deals with the physical characters is the child’s growth. The child’s height is affect by the disease a great deal. The growth of a child with Down syndrome tends to be short and their built is stocky. Their growth up to age four is slightly behind average. Then it decreases each year. The height is different when we take a look at boys and girls. The average height of a boy with Down syndrome is about the same height of that of eight- year old child. That is about the tallest the boy will get. The average height of a girl with Down syndrome is about the same as a ten-year old girl. The average height of a man with Down syndrome is about five feet tall. The average height of a female is about four foot seven. Theses are the average but a child could access these levels.
Babies with Down Syndrome can have special medical problems. Although some of these problems can be quite serious, medical treatments have improved so much that today the vast majority of babies with Down Syndrome can grow up healthy and active. Extra genetic material can cause a wide variety of medical conditions, including heart, intestine and eye problems.
Over forty percent of babies with Down Syndrome are born with heart defects. For decades these defects meant early death, but today advanced medical treatment with drugs and life-saving surgery are common, even almost routine. There are several types of heart defects. The most common is called an Endocardial cushion defect. This means that the walls between the two upper chambers and the two lower ones of the heart, as well as the valves between them, maybe deformed. There may also be a whole between the two lower chambers. This condition is called Ventricular Septal defect. There are less common defects, involving a whole between the two upper chambers, problems with the heart valves, and the major arties attach to the heart. Most children with down syndrome have the same quality of sight as other children and develop the same control of their eyes, but because eye sight can affect other facets of development, it is especially important to make sure your child’s eye sight is normal as early as possible. The three most common eye defects are crossed eyes, nearsightedness, farsightedness and cataracts. The ears of babies with Down Syndrome tend to be smaller than normal, which can cause some problems. This middle ear is smaller as well, and that is where most ear problems start. The middle ears of children can often become filled with fluid. Treatment of ear infections ranges from medicine to surgery, depending on the severity of the ear congestion. Other problems that children with Down Syndrome may have are thyroid problems and vertebrae instability.
Human development is a complex process of growing and acquiring skills. The foundations of the developmental process are in a baby’s genetic make-up and their environment. There are many factors such as psychological, biological, cultural and environmental factors that have a tremendous impact on the way one develops. Development is an evolving process that is subjected to both positive and negative influences. Erik Erikson developed a psychosocial theory that divided the development process into eight stages. We will examine the first three of these eight stages and compare how a child who is considered to be “normal” develops in contrast to a child who is born with Down syndrome develops. These first three stages are crucial to the development of a child in that the changes that occur during these times are extraordinary. A child will develop a general control over their body and will become a social being.
The first stage is Trust vs. distrust, which takes place during the first year of infancy. In this stage it is very important for the infant to learn that they can trust their primary caregiver for affection, protection and comfort. If this is not learned, then the child will develop distrust because their needs are not being met. This is a time for laying foundations. Being able to establish love, security and trust will help motivate a baby to move, explore and challenge themselves. Babies born with Down syndrome are no different than a baby who is “normal” at this stage of development. It is just as important for them to learn how to trust their primary caregiver and it is even more important their needs are being met at this stage of development. As a child with down syndrome advances to the next stage, their development tends to slow down. Babies in this stage are working on their gross motor skills such as crawling, walking and using large muscles like the legs and arms. For a simple task like smiling, it can take a month or two longer for a baby with Down syndrome to achieve that task. Another task like rolling over, can happen when a baby is about 8 months for a Down syndrome baby compared to about 3 months for a child who is normal.
The second stage, Autonomy vs. shame and doubt, covers the years 1-2. During this stage, children gain control over eliminative functions, learn to feed themselves and are allowed to play alone and develop a sense of independence. If a child is too restricted during this stage, then they can develop a sense of shame and doubt about their own abilities. For infants, this stage represents a period of transition. Changes that will occur at this stage are so critical for the baby’s life. There are three major changes that will occur during this stage. The first is the start of independent movement. The next is the understanding of object permanence and the third is the beginning of the use of language. An activity such as sitting alone, can happen for a normal child around 7 months. For a Down syndrome child, it can be expected to happen around 10 or 11 months. Another activity, crawling, will usually happen around 12-13 months for a Down syndrome baby where as this usually occurs around 8 months for a normal child. Not that much of a difference really, even a “normal” child can take a little longer to develop these activities.
The third stage, Initiative vs. guilt, takes place from 3 to 5 years. This is where the children’s motor and intellectual abilities continue to increase. This is a period of intense skill development. It is so important in this stage for a caregiver to accept the child’s developing initiative. If they fail to do so, a feeling of guilt will be instilled upon the child. Some of the tasks being accomplished in this stage for a Down syndrome baby are standing, walking, talking in words and sentences. These tasks are being accomplished, but at about 6 to 7 months behind a normal child. It is so important for the parents to be involved in their baby’s development, especially when that child has Down syndrome. Most of the children will choose to learn new tasks in the way that is easiest for them. Because of the unique characteristics particular to babies with Down Syndrome, they need special guidance to help them master these stages of development.
In many ways, raising a baby with Down syndrome will be the same as raising any other baby. But there will be some differences as well. As a parent of a child with Down syndrome, you have to be very conscious about the childs development. You will have to help direct his or her development and also join in, in this work.. Teaching is a very important job of the parents and the professionals as well. One of the methods a parent can use is observing. The characteristics a parent would be observing are responsiveness, is the child alert? Is he or she aware of his environment? A parent would also be observing movement. This would include observing how a child grasps objects or is the child using just one side of the body? A third area of observation would be communication. What you would be observing here is looking to see if the child understands familiar words or names. You could also just be observing to see if certain activities or movements motivate the child to talk. A couple of other areas that should be observed are sensory input, responsiveness or energy level.
There are a variety of teaching strategies that can be used to make teaching your child more effective. You need to be a consistent as you possibly can. Being more consistent in your approach will foster new learning. You also have to have well-defined expectations. If the goals you set are too lofty for your child, then these tasks might not get accomplished. You also need to be very positive in your approach. You’ll need to use a lot of praise a d other positive rewards in order to motivate your child to learn. Repetition is also a very important part of the learning process for your child. You as a parent, might get bored easily with repetition, but it is important to stay focused in this step. Lastly, take small steps. Too big a task might mean not being able to accomplish certain tasks.
