What is Down Syndrome?
Down Syndrome is a group of physical and mental symptoms that are the end result of a person having an extra copy of Chromosome 21. A fertilized human egg has 23 pairs of chromosomes. However, a person with Down Syndrome has 23 pairs of chromosomes and one more chromosome 21, making creating what is called trisomy 21, meaning the person has three chromosome 21’s. This changes the healthy development of a person’s brain and body.
Symptoms of Down Syndrome
Symptoms of Down Syndrome can be quite mild or very severe, and even though individuals with Down Syndrome may have the same symptoms does not necessarily mean they will look or act the same.
For those with down syndrome, the mental and physical development is often slower than in those that do not have the condition. Many people with Down Syndrome have an IQ that is usually classified as mild to moderate mental retardation. Some have slow language development and motor skills development.
Physical symptoms are similar to all individuals with Down Syndrome, even though some have mild symptoms, and others have severe symptoms. The physical symptoms include a flat face, upward slant to the eyes, short neck; ears are abnormally shaped, white spots on the iris of the eye, deep crease in the palm, loose ligaments, small hands, and little feet.
Health problems are very present with individuals with Down Syndrome and can include hearing problems congenital heart disease, celiac disease, intestinal problems, thyroid problems, eye problems, dementia, and skeletal problems.
Diagnosing Down Syndrome
Diagnosing Down Syndrome can begin as early as in the womb. Screening is often performed as part of the prenatal care; however, this is not something that is done automatically. The physician will ask the patient is she would like the screening to be performed. At one time, this was only offered to older women, as the chance for giving birth to a child with Down Syndrome was greater. Today, the American College of Obstetricians and Gynecologists has recommended that all women receive this test. Before making a decision to receive the test, you should discuss the pros and cons of your physician.
Many women take the first trimester combined test; however, the test can be wrong. Around 5% of women that have this test done receive a reading that they are at high risk for giving birth to a Down Syndrome baby, when, in fact, the risk is not present. The test will include an ultrasound and blood tests. Screening tests can also be performed during the second trimester. For those that received a result of possibly carrying a baby with Down Syndrome, an Amniocentesis can be achieved.
This test will be carried out by removing amniotic fluid surrounding the baby through a large needle that is inserted into the womb. A few other tests can also be performed during pregnancy. All of these should be discussed with your doctor as they do have a small chance of causing a miscarriage. After the infant is born, if the baby displays any of the characteristics of Down Syndrome, a test known as chromosomal karyotype can be performed. The test will analyze the baby’s chromosomes to determine if there is a copy of chromosome 21.
Treatments for Down Syndrome
There is no cure for Down Syndrome. Early detection will help the family and child life productive lives. In the majority of cases, the children may need speech therapy, exercises for gross and fine motor skills, and occupational therapy. Some children may begin in special education while others do just as well as in regular classes.
Lastly, don’t get stressed about the defect. Everything will be fine.