Down syndrome

 

Down syndrome (sometimes called Down's syndrome) is a condition in which a baby is born with an extra copy of its 21st chromosome - hence its other name, trisomy 21. This causes delays in physical and mental development and disability. Most disabilities are lifelong and can shorten life expectancy. Recent medical advances, along with the cultural and institutional support of people with Down syndrome and their families, provide many opportunities to help overcome the challenges of this condition.

What causes Down syndrome? In all cases of childbirth, both parents pass on the inheritance to their offspring. These genes are regulated by chromosomes. As the baby's cells grow, each cell must receive 23 pairs of chromosomes, out of a total of 46 chromosomes. Half of the chromosomes are from the mother and a half from the father. In children with Down syndrome, one of the chromosomes does not differentiate well. The child ends up with three copies, or an additional copy, of chromosome 21, instead of two. This extra chromosome creates problems as the brain and body parts grow. According to the National Down Syndrome Society (NDSS), about 1 in 700 children in the United States are born with Down syndrome. It is the most common genetic disease in the United States. One factor that increases the risk of having a baby with Down syndrome is the mother's age. Women who are 35 years of age or older during pregnancy are more likely to become pregnant with Down syndrome than women who become pregnant at an early age. However, most babies with Down syndrome are born to mothers under 35 years of age because there are many births among young women.

Types of Down syndrome: There are three types of Down syndrome: Trisomy 21 means that there is an extra copy of chromosome 21 in all the cells. This is the most common form of Down syndrome. Mosaicism occurs when a baby is born with an extra chromosome in some but not all of its cells. People with mosaic Down syndrome tend to have fewer symptoms than those with trisomy 21. Transport; In this type of Down syndrome, children have only an extra portion of chromosome 21. There are 46 chromosomes in total. However, one of them has an additional chromosome 21 component attached.

What are the symptoms of Down syndrome? Although the chances of having a baby with Down syndrome may be limited by screening during pregnancy, you will not have any symptoms of having a baby with Down syndrome. At birth, babies with Down syndrome usually have certain symptoms, including features of a flat face, head and small ears, short neck, explosive language, eyes up, typically shaped ears, and poor muscle tone.  A baby with Down syndrome may be born a medium size, but it will grow smaller than a baby without the condition. People with Down syndrome usually have some degree of growth retardation, but it is usually mild to moderate. Delays in mental and social development may mean that the child may: have reckless behavior, bad judgment, little time for attention, and slow learning skills.  Medical problems are often associated with Down syndrome. This may include: congenital heart failure, hearing loss, blurred vision, cataracts (dark eyes), hip problems, such as sprains, leukemia, chronic constipation, sleep apnea (sleep disturbed during sleep), dementia (problems with thinking and memory), hypothyroidism (thyroid dysfunction), obesity, tooth decay is delayed, which causes problems with chewing and Alzheimer's disease later in life. People with Down syndrome are also more prone to infection. They may suffer from respiratory infections, urinary tract infections, and skin diseases.

Down syndrome test during pregnancy: Down syndrome screening is offered as part of antenatal care in the United States. If you are a woman over 35, the father of your child is over 40, or there is a family history of Down syndrome, you may want to get tested. In the first trimester; ultrasound and blood tests can detect Down syndrome in your fetus. These tests have a higher rate of false positives than tests performed in the later stages of pregnancy. If the results are abnormal, your doctor may follow amniocentesis after your 15th week of pregnancy. Second trimester; an ultra screen scan and quadruple marker (QMS) can help diagnose Down syndrome and other brain and spinal deformities. These tests are done between 15 and 20 weeks of pregnancy. If any of these tests are unusual, you will be considered at high risk for birth defects.

Additional prenatal tests: Your doctor may order additional tests to detect Down syndrome in your baby. This may include: Amniocentesis; your doctor takes a sample of amniotic fluid to check the number of chromosomes your baby has. The test is usually done after 15 weeks. Chorionic villus sampling (CVS); your doctor will take cells from your placenta to analyze the baby's chromosomes. These tests are done between the 9th and 14th weeks of pregnancy. It can increase the risk of miscarriage, but according to the Mayo Clinic, less than one percent only. A sample of umbilical percutaneous blood (PUBS, or cordocentesis); your doctor will take blood from the navel and test it for chromosomal defects. It is done after the 18th week of pregnancy. It has a high risk of miscarriage, so it is only performed if all other tests are uncertain. Some women choose not to take this test because of the risk of miscarriage. They prefer having a baby with Down syndrome rather than losing the pregnancy. Test at birth: At birth, your doctor will: examine your child's body, order a blood test called karyotype to confirm Down syndrome.

Treatment of Down syndrome: There is no cure for Down syndrome, but there are a variety of support and educational programs that can help people with the disease and their families. The NDSS is just one of several programs to monitor programs across the country. The programs available start with early intervention. Federal law requires states to provide medical care for eligible families. In these programs, special education teachers and therapists will help your child learn: sensory skills, social skills, self-help skills, motor skills, and language and cognitive skills. Children with Down syndrome often experience significant age-related events. However, they may be less educated than other children. School is an important part of a child's life with Down syndrome, regardless of intellectual ability. Public and private schools support people with Down syndrome and their families through integrated classes and special education opportunities. Schooling allows for meaningful social cohesion and helps students with Down syndrome develop essential life skills.

Samina Zaheer (Health Tips, Health Care).