What is Down Syndrome? Down syndrome (sometimes called Down's syndrome) is a condition in which a child is born with an extra copy of chromosome 21, hence its other name, trisomy 21. This condition results in physical and mental disability and handicap.
Many of these disabilities persist throughout life and may even shorten life expectancy. Despite this, patients with Down syndrome can lead healthy and productive lives. Recent medical advances, as well as cultural and passionate support for people with Down syndrome and their families, have opened up many opportunities to help them meet the challenge of dealing with this problem and ailments.
What Causes Down Syndrome?
In all cases of reproduction, both parents pass on their genes to their offspring. These genes are carried on chromosomes. As baby cells develop, each cell is expected to receive 23 pairs of chromosomes, for a total of 46 chromosomes. Half of the chromosomes come from the mother and the other half from the mother.
In children with Down syndrome, one of the chromosomes does not separate properly. Finally, instead of two copies, the baby has three copies, which is an extra partial copy of chromosome number 21. This extra chromosome causes problems in brain development and physical characteristics.
According to the National Down Syndrome Society (NDSS), about 1 in 700 babies in the United States is born with Down syndrome. It is the most common genetic disorder in the United States.
Types of Down Syndrome
There are three types of Down syndrome:
1. Trisomy 21
Trisomy 21 means that there is an extra copy of chromosome 21 in each cell. This is the most common form of Down syndrome.
2. Mosaic Down Syndrome
Mosaic occurs when a child is born with an extra chromosome in some but not all cells. People with mosaic Down syndrome have fewer symptoms than people with trisomy 21.
3. Robertsonian shift
In this form of Down syndrome, children have only one extra piece of chromosome 21. There are 46 chromosomes in total. However, one of them has an extra piece that attaches to chromosome 21.
Is my child at risk of developing Down syndrome?
Certain parents have a higher risk of having children with Down syndrome. According to the Centers for Disease Prevention and Control, mothers age 35 and older are more likely to give birth to a child with Down syndrome than younger mothers. This risk increases with the mother's age.
Research shows that the age at which one can become a parent also plays a role. In a 2003 study, they found that parents over 40 were at risk of having a child with Down syndrome.
Other parents who are at higher risk of having a child with this syndrome include:
- Those who have a family history of Down syndrome.
- Those who are carriers of a genetic mutation.
It is important to remember that none of these factors mean that you will definitely have a child with Down syndrome. But statistically and in a large population, these factors may put you at higher risk.
What are the symptoms of Down syndrome?
Although the likelihood of having a child with Down syndrome can be estimated with a screening test during pregnancy, you will not see any signs that you are having a child with Down syndrome.
At birth, babies with Down syndrome usually have certain characteristic symptoms, including:
- The flatness of the face
- Small head and ears
- Short neck
- A long tongue that extends slightly outside the mouth.
- Eyes squinted upward.
- Abnormally shaped ears
- Weak muscles
A baby with Down syndrome may be born medium-sized, but grow more slowly than children without Down syndrome.
People with Domme syndrome usually have some degree of disability and developmental delay, but it is usually mild to moderate. Delayed intellectual and social development may be a sign that the child has one of the following problems:
- Stressful behavior
- Poor cognitive ability
- Limited attention span
- Slow learning skills.
Medical problems commonly associated with Down syndrome include:
- Congenital heart failure
- Hearing loss
- Poor eye vision
- Cataracts (blurred vision)
- Pelvic problems, such as dislocation.
- Leukemia (cancer of the blood)
- Chronic constipation
- Sleep apnea (stopping breathing during sleep)
- Dementia (thinking and memory problems)
- Obesity
- Delayed tooth growth, leading to chewing problems.
- and later Alzheimer's disease
In addition, people with Down syndrome are more susceptible to infections. You can get respiratory infections, urinary tract infections, and skin infections.
Down syndrome screening during pregnancy
Down syndrome screening is recommended as part of routine prenatal care in the United States. If you are a woman over 35 and the father of your child is over 40, or if Down syndrome runs in your family, it is best to get screened.
The first trimester
An ultrasound and blood test may be enough to diagnose Down syndrome in your fetus. These tests have a higher false-positive rate than tests done in the last months of pregnancy. If the results are not normal, the doctor may perform an amniocentesis after the 15th week of pregnancy.
The second trimester
An ultrasound and quadruple marker test (QMS) can help diagnose Down syndrome and other brain and spinal cord disorders. This test is done between 15 and 20 weeks of pregnancy.
If either of these tests is abnormal, there is a high risk of having a baby with birth defects.
Other prenatal tests
Your doctor may order additional tests to diagnose Down syndrome in your baby. These tests may include:
Amniocentesis. Your doctor will use a needle inserted into the ventricle of the heart to take a sample of amniotic fluid to determine the number of chromosomes in the baby.
Paired villus sampling. Between weeks 8 and 12, a sample of the placenta is briefly removed for examination by inserting a needle into the cervix or abdomen.
Collection of subcutaneous cord blood samples. After 20 weeks, a small blood sample is taken from the umbilical cord using a needle inserted into the ventricle of the heart for further examination.
Some women choose not to have these tests because of the risk of miscarriage. They prefer the risk of having a child with Down syndrome to the risk of abortion.
After the child is born, Down syndrome can be diagnosed by examining the child's physical characteristics, blood, and tissues.
Reducing the symptoms of Down syndrome
There is no cure for Down syndrome, but there are a variety of education and support programs that can help people with Down syndrome and their families.
Existing programs begin in early childhood. Under federal law, eligible families must attend treatment programs. In these programs, experienced teachers and therapists will help your child learn:
- Sensory skills
- Social skills
- Self-help skills
- Motor skills
- Language and cognitive skills
Children with Down syndrome often meet age-related criteria. But they may be a little slower than other children.
School is an important part of the lives of children with Down syndrome, regardless of their intellectual abilities. Public and private schools support people with Down syndrome and their families with integrated classes and special educational offerings. Attending school helps students with Down syndrome learn important life skills such as socialization.
Living with Down syndrome
The life expectancy of people with Down syndrome has increased dramatically in recent decades. In 1960, babies with Down syndrome often did not reach the age of ten. Today, the average life expectancy for people with Down syndrome is between 50 and 60 years.
If you are raising a child with Down syndrome, it is important to communicate with healthcare professionals who understand the unique challenges of Down syndrome. In addition to serious conditions like heart failure or leukemia, people with Down syndrome may need protection from common infections like the common cold.
People with Down syndrome are now living longer and more productive lives than ever before. While they often face some unique challenges, they also can overcome these obstacles and succeed. Building a strong support network of experienced professionals and understanding family and friends is essential to the success of people with Down syndrome and their families.
Post a Comment
0Comments