Down’s Syndrome – What You Need to Know
Whether you are planning to have a baby or have already welcomed a new child into your family, there are many things to consider. One of the biggest concerns is whether or not your child will have Down’s Syndrome. Having a child with Down’s Syndrome means your child is at risk for a number of complications, including heart disease, high blood pressure, brain damage, and premature birth.
Symptoms
Typically, Down’s Syndrome symptoms involve a number of physical features and behavioral characteristics. Some people with Down’s syndrome will only have a few of these characteristics, while others may be more severely affected. They may also need assistance from therapists to ensure that they can lead independent lives.
Down’s syndrome is also associated with a number of gastrointestinal and heart problems. Approximately five to seven percent of people with Down’s syndrome have malformations of their digestive tracts. This can affect how their body digests food and can lead to health conditions as they grow older.
Another common symptom of Down’s syndrome is short stature. The average length of a child with Down’s syndrome is about two inches shorter than a child of the same age. This can make it difficult for the child to interact with other people and can make learning more difficult.
Down’s Syndrome symptoms can also include hearing problems, thyroid abnormalities, and gastrointestinal issues. Many people with Down’s Syndrome are prone to weight gain, which can increase their risk of health problems as they grow older.
During pregnancy, women who are at high risk for Down’s Syndrome should be offered genetic testing. They should also have a chance to undergo an ultrasound scan to look for any anomalies. This procedure is painless and will provide a detailed picture of the inside of the baby’s body.
The first physical feature of Down’s syndrome is often a ring of iris speckles, but there are many other phenotypic features. These include brachycephaly (flat head at the back), a small mouth, low ears, and a protruding tongue.
There is no known cure for Down’s Syndrome, but there are treatments that can help people lead independent and productive lives. These treatments may include physiotherapy, occupational therapy, and dietitian support. Some people with Down’s Syndrome may also benefit from speech and language therapy.
Finding out that your child has Down Syndrome may be a shock, but it’s important to learn more about the condition. Talk to your GP, midwives, and other healthcare professionals to learn more.
Causes
Several medical problems can occur in people with Down’s syndrome. Some of these include heart defects, learning disabilities, digestive problems, and poor immunity. These problems can be treated with therapies such as speech and language therapy, occupational therapy, and physiotherapy. These therapies can improve cognitive skills and allow children with Down’s syndrome to live healthy, independent lives.
One of the primary causes of Down’s syndrome is the presence of an extra copy of chromosome 21, known as trisomy 21. This extra chromosome affects every cell in the body. It causes characteristic physical features in Down’s syndrome, such as low muscle tone, vertical skin folds, short stature, and an abnormal head shape. Some people with Down’s syndrome have additional conditions, such as problems with the thyroid and hearing.
Many people with Down’s syndrome have poor immunity, which makes them more susceptible to infection. In addition, people with Down’s syndrome have a higher risk of developing blood disorders, such as leukemia. This increased risk is thought to be caused by an abnormal immune system.
People with Down’s syndrome are also more likely to develop health conditions as they grow older. Some of these conditions include sickle cell disease, which affects red blood cells. Another condition, called glue ear, is caused by a build-up of fluid in the middle ear.
Most Down’s syndrome babies are born to younger women. Some babies are born with all physical signs, while others have only mild physical abnormalities.
Down’s syndrome has no cure. Most people with the condition live long lives. However, a small number of children with Down’s syndrome will develop other conditions.
Down’s syndrome is an autosomal genetic disorder. It occurs when there is an extra chromosome inherited from one or both parents. People with Down’s syndrome are at a higher risk for blood disorders, learning disabilities, heart defects, and digestive problems. They are also at a greater risk for premature birth and miscarriage.
Because of the risk of developing health problems, people with Down’s syndrome need to get proper treatment as soon as possible. A pediatrician can help parents understand the risks and benefits of early intervention. They can refer the child to other healthcare professionals.
Diagnosis
Until very recently, the only screening test for Down’s Syndrome was the question of age. The result was a 5% false-positive rate. But, over the last few years, the accuracy of screening has improved dramatically. This has led to an increase in the number of Down’s syndrome diagnoses. It has also led to an increase in the number of women who undergo invasive tests.
A noninvasive prenatal screening test can detect an extra 21 chromosomes in the fetus. It is called the Wolfson Institute test and it has been shown to be 85% accurate. But, the test is not available on the NHS.
The Wolfson Institute test measures the serum levels of four second-trimester markers and two first-trimester biochemical markers. It is also based on ultrasound measurements. But, it is not available in Iceland.
Another test is the “triple test” which measures the serum levels of three markers. This is a much more accurate way of identifying high-risk women than a blood test. In some cases, the diagnosis is confirmed with a trophoblastic biopsy.
The medical community is awash with a number of new approaches to prenatal diagnosis. However, these are still in development. Community-based antenatal care should be aware of these developments and communicate them to women and families.
The “triple test” also demonstrates the concept of the routinization of prenatal screening. This creates the illusion of informed consent. But, it doesn’t actually change the patient’s medical care.
The most interesting development is the noninvasive prenatal screening test. The test detects the extra 21 chromosomes in cell-free DNA. It is available from 10 weeks gestation and has no risk of miscarriage.
Despite the advances in screening, there are still many concerns about the impact of screening on pregnant women. Researchers need to find out why more women are not screened. They should also explore why some parents choose not to undergo invasive tests.
In the end, the best possible outcome is that more women are screened. This may be achieved by removing the fear of testing and replacing it with an approach that offers greater safety and accuracy.
Complications
Several medical conditions affect individuals with Down’s syndrome. Some of the most common are heart problems, vision problems, hearing issues, and attention issues. Fortunately, there are therapies available that can address the unique needs of children with Down’s syndrome.
Approximately half of the children with Down syndrome will have a heart defect. Heart defects are usually associated with poor blood flow and reduced heart capacity. In some cases, heart surgery is required. Occasionally, a heart defect will require the use of oxygen therapy.
Another common condition in people with Down’s syndrome is an underactive thyroid gland. The thyroid gland is located in the lower neck. It is a butterfly-shaped organ that produces hormones. This condition may lead to weight gain, lethargy, and decreased energy.
The most common type of heart defect in people with Down’s syndrome is Atrioventricular Septal Defect. In this condition, a hole is left in the heart that prevents the heart from allowing blood to flow between all of the chambers. The condition can lead to pulmonary hypertension, which can cause lasting lung damage if not treated. It is important to diagnose the condition early.
Another complication of Down’s syndrome is celiac disease. This disease is caused by an intolerance to a wheat protein called gluten. Symptoms are usually mild. However, in older children, the condition can lead to weight gain and obesity.
Some individuals with Down’s syndrome may have gastrointestinal anomalies, which may include a tracheoesophageal fistula. 12% of Down’s syndrome patients will require surgery to correct these issues.
Other common Down’s Syndrome complications are short-sightedness and anger. People with Down’s Syndrome often have small ears and upslanting palpebral fissures. They may also have flat faces and small hands. These deformities are known to affect the survival rate of people with Down’s Syndrome.
Down’s Syndrome is the most common genetic form of mental retardation. It is estimated that about 1 in every 700 babies born alive has the disorder. Down’s Syndrome is a genetic condition that is caused by the presence of an extra chromosome. It is also referred to as trisomy 21.
Health Sources:
Health A to Z. (n.d.). HSE.ie. https://www2.hse.ie/az/
U.S. National Library of Medicine. (n.d.). https://www.ncbi.nlm.nih.gov/
Directory Health Topics. (n.d.). https://www.healthline.com/directory/topics
Health A-Z. (2022, April 26). Verywell Health. https://www.verywellhealth.com/health-a-z-4014770
Harvard Health. (2015, November 17). Health A to Z. https://www.health.harvard.edu/health-a-to-z
Health Conditions A-Z Sitemap. (n.d.). EverydayHealth.com. https://www.everydayhealth.com/conditions/
