According to the Center for Disease Control, the rates of children being born with Down syndrome rose by 24% from a census done during the periods of 1979 to 1983 and 1993 to 2003. In a study conducted in 2002, about 83,000 children and adolescents with this syndrome were living in the United States. Due to the complexity of the nature of this disorder, especially in terms of the causes, researchers still have a long way to go before they can fully understand this condition. Over the past few decades, the life expectancy of someone with this condition has risen from the average age of 10 to about 50 and older, and great strides continue to be made with regards to treatment and support programs being offered to those suffering from this condition, as well as the parents of children diagnosed with it.
What is Down Syndrome?
Down syndrome is also referred to as Trisomy 21, because it is caused from the genes on chromosome 21, and it is an inherited condition that was named after a doctor called Langdon Down, who was the first one to outline the symptoms of the syndrome in 1866. This condition is largely characterized by a cognitive impairment, but there are also a range of developmental issues that are associated with it, including difficulties in achieving developmental milestones. The extent of the difficulties faced by children with this condition depend on the severity of the syndrome, although it is now becoming easier for these individuals to become self-sustaining once they have become adults.
What Causes This Syndrome?
During conception, the fetus will inherit 23 chromosomes from each parent, which are usually located in the egg and sperm cell. When an individual inherits an extra two 21 chromosomes from the mother, as well as one from the father, the child develops Down syndrome, and this is because of the genes that usually make up these chromosomes. In very few cases, fetuses simply inherit the genes that are associated with chromosome 21, and this is enough for them to develop the symptoms of this syndrome.
In some cases, a fetus will develop what is called mosaic Down syndrome, and this occurs when the child inherits chromosome 21 genes, but they are limited to a few specific areas of the body. In these instances, the child might not suffer with all of the symptoms that are usually associated with this condition, which include severe cognitive impairment, and appear in varying degrees when the genes are located all over the body. In some cases, a child might struggle with the development of their muscles if the cells are located in this area, and so physical therapy might become much more important for these individuals than other forms of medical attention.
Researchers do not yet understand the direct link between chromosome 21 and this syndrome, but it is clear that one exists. Scientists that are conducting studies on this condition believe that the problem may have something to do with the way that genes interact with each other, and they think that these interactions might be altered due to the presence of these extra genes. It is also thought that, due to the presence of these extra genes, some may become underactive, while others will become overactive. In order to fully understand this link, studies are being conducted to identify the function of the individual genes within the body, although this is a slow process that has yet to yield comprehensive results.
The Symptoms of Down Syndrome
The symptoms that are usually associated with this condition tend to differ, depending on the severity of the case, but there are some common physical characteristics that have come to be known as common manifestations of this syndrome, and these include: poor muscle tone, developmental delays in terms of height and physical capabilities, white spots on the irises, shortened hands and fingers, and facial features such as a flattened nose, slanting eyes, small ears and a protruding tongue.
The developmental delays that are associated with this condition might not be evident when the child is born, but over time, they can greatly impede on the child’s developmental milestones. Children with this problem often crawl, walk and talk at a very late age, and they tend to find it difficult to begin refining their fine motor skills.
The physical characteristics that are symptomatic of this condition in a fetus tend to include: large gaps between the first and second toes, bright spots on the heart and hypoplasia. When this condition is being analyzed by an ultrasound, these are the symptoms that a medical professional will look for.
Risk Factors Associated With Down Syndrome
While it can be difficult to determine who is at risk and who isn’t, there are a few factors that will generally increase the chances of a women giving birth to a baby with Down syndrome, and these include:
When a woman has a baby at an advanced age
As a women ages her eggs age with her, and so the risk begins to increase over time. By the age of 35, a woman has a 1 in 400 chance of conceiving a baby with this syndrome. When a woman reaches the age of 45, her chances of conceiving a child with this syndrome rise to 1 in 35. The number of babies with this syndrome born to younger women is currently higher because the number of children being conceived within this age group is also much higher.
When a woman has already conceived a baby with Down syndrome
If a mother has already given birth to a baby with this condition, the chances of her having another child with the syndrome are 1%.
Men and women that carry a genetic translocation for Down syndrome
If one or both parents have this condition, there is a 50% chance that the baby will inherit it.
Prenatal Screening For Down Syndrome
In the past, parents had no way of knowing whether their child would be born with Down syndrome, but there are now various tests that are able to detect this condition in a fetus. In the event that the baby has inherited this condition, parents can then begin to take steps to prepare for the challenges that lie ahead.
The tests that can now be conducted to detect this syndrome in a fetus include: ultrasounds, the nuchal translucency test, and the alpha-fetoprotein screening test (or AFP). When the AFP test is used, it is usually administered between 15 and 20 weeks after conception. In order to conduct the test, a blood sample is drawn from the mother, and if the tests results indicate that the AFP, human chorionic gonadotropin, unconjugated estriol and inhibinA have altered, it is thought that the child might have Down syndrome. It is important to remember, however, that these tests cannot confirm, without error, that this syndrome is present in the fetus.
Diagnosing Down Syndrome
In order to diagnose this condition while the fetus is still in the womb, there are tests that are designed to analyze the makeup of the chromosomes, but it is important to remember that these are invasive procedures, which carry slight risks of inducing a miscarriage. The three tests that are conducted in order to diagnose this condition are: Chorionic villus sampling, amniocentesis and percutaneous umbilical blood sampling.
Complications Associated With Down Syndrome
There are a variety of complications that are usually associated with this syndrome, but the extent will usually depend on the severity of the condition. While some of the complications of this condition will remain dormant when the child is born, as he or she grows older, the symptoms become more prominent. These include: heart defects, infectious diseases, leukemia, dementia, obesity, sleep apnea and a range of physical problems with range from seizures to gastrointestinal blockages.
Prognosis
There is no known treatment for this condition, although those that are suffering with Down syndrome now have a much longer life expectancy than before. The prognosis of a patient with this syndrome will depend on the severity of their condition, as well as the associated manifestations that have developed, such as problems with the heart, but in many cases, people can now live up to 50 years old. With the appropriate support and treatment for associated symptoms, people with this condition can also now expect to obtain a much higher quality of life than before.
Treatments Being Offered For Down Syndrome
When this condition is diagnosed early, and the appropriate interventions are sought, children can expect to have a much high quality of life. The most important tool that parents need to seek out, when they find out their child has this condition, is information. Testing during the gestation period allows parents the opportunity to ensure that they are prepared for the challenges that lie ahead, and this can have a big impact on the abilities of the child, once he or she begins to face the challenges of their developmental milestones.
Intervention programs have been designed to begin stimulating children that are struggling with this condition from a very young age. These programs combine the skills of teachers and therapists, to ensure that the babies receive the appropriate amount of stimulation with regards to their motor, language and social skills.
Children with this condition tend to face a variety of challenges, which include physical, emotional and cognitive disabilities, and so parents usually draw on the skills of professionals from a range of fields as they go through the process of raising their child. It is important for parents to consider their choice of therapists and doctors right from the beginning, as this will ensure that they are more comfortable with the professionals of their choice when the time comes for them to begin attending consultations. The types of professionals that are usually called upon to assist in treating a child with this syndrome include: pediatricians, speech therapists, cardiologists, gastroenterologists, neurologists, occupational therapists and audiologists.
Coping With This Syndrome
While children with this condition need support in order to ensure that they have the best chances of functioning to the best of their abilities, it is just as important for parents to obtain support, since this type of task is extremely challenging. It is important for parents to be honest about their feelings, and to find others that understand what they are going through. Caring for a baby with this type of disability can be challenging physically, emotionally and financially, which is why establishing a support base is so necessary.
Parents might need to constantly refer their child to medical professionals, special needs teachers and counselors in order to provide them with adequate care, and so picking out this team will be one of their first priorities. Since many decisions will have to be made in the upcoming years, parents need to establish a strong trust with the professionals in whose hands they are going to put their child.
Emotional support is just as important for the parent as it is for the child, and so communicating with other parents who are going through the same thing is imperative. There are a range of social support groups around the country, as well as internet forums where parents come together to discuss the challenges that they have faced, experience that they have gained and generally provide support to one another as they are going through difficult phases of the process of raising a child with Down syndrome.
Preventative Measures
There are no known methods of preventing Down syndrome, although those that are at a higher risk for having a child with this condition might want to consult with a professional before they make the decision to fall pregnant. People who are interested in having a child, but find that they have already had a child with Down syndrome, or are at an age where having a child might be risky, should take the time to speak to a genetic counselor, since he or she will be able to take them through all of the risks, as well as the tests that can be conducted early to determine whether the child has this condition or not.
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