Down Syndrome

              Down Syndrome(a serious disease)

Down syndrome is a set of physical and mental traits caused by a geneproblem that happens before birth. Children who have Down syndrome tend to have certain features, such as a flat face and a short neck. They also have some degree of intellectual disability. This varies from person to person. But in most cases it is mild to moderate.

Down syndrome is a lifelong condition. But with care and support, children who have Down syndrome can grow up to have healthy, happy, productive lives.

Down syndrome is caused by a problem with a baby's chromosomes. Normally, a person has 46 chromosomes. But most people with Down syndrome have 47 chromosomes. In rare cases, other chromosome problems cause Down syndrome. Having extra or abnormal chromosomes changes the way the brain and body develop.

Experts don't know the exact cause, but some things increase the chance that you'll have a baby with Down syndrome. These things are called risk factors.

Your risk of having a baby with Down syndrome is higher if:

• You are older when you get pregnant. Many doctors believe that the risk increases for women age 35 and older.
• You have a brother or sister who has Down syndrome.
• You had another baby with Down syndrome.

If you've had a baby with Down syndrome and are planning anotherpregnancy, you may want to talk to your doctor about genetic counseling.

Most children with Down syndrome have:

• Distinctive facial features, such as a flat face, small ears, slantingeyes, and a small mouth.
• A short neck and short arms and legs.
• Low muscle tone and loose joints. Muscle tone usually improves by late childhood.
• Below-average intelligence.

Many children with Down syndrome are also born with heart, intestine, ear, or breathing problems. These health conditions often lead to other problems, such as airway (respiratory) infections or hearing loss. But most of these problems can be treated.

Your doctor may suggest that you have tests during pregnancy to find out if your baby has Down syndrome. You may decide to have:

• Screening tests, such as an ultrasound or a blood test during your first or second trimester. These can help show if the developing baby (fetus) is at risk for Down syndrome. But these tests sometimes give false-positive or false-negative results.
• Diagnostic tests, such as chorionic villus sampling or amniocentesis. These can show if a baby has Down syndrome. You may want to have these tests if you have abnormal results from a screening test or if you are worried about Down syndrome.

Sometimes a baby is diagnosed after birth. A doctor may have a good idea that a baby has Down syndrome based on the way the baby looks and the results of a physical exam. To make sure, the baby's blood will be tested. It may take 2 to 3 weeks to get the test results.Starting soon after birth, a baby with Down syndrome will be tested for health problems, such as eye, ear, or thyroid problems. The sooner these problems are found, the better they can be managed. Regular doctor visits can help your child stay in good health.

Your doctor will make a treatment plan that meets your growing child's needs. For example, most children with Down syndrome need speech therapy and physical therapy. Teens and adults with Down syndrome may need occupational therapy to learn job skills and learn how to live on their own. Counseling may help with social skills and emotional issues.

Down Syndrome - Cause

Down syndrome is caused by abnormal cell division in early embryodevelopment. Normally, a child inherits 46 chromosomes, 23 from each parent. Each chromosome carries DNA, called genes, which tell how the brain and body should develop.

But a fetus with Down syndrome has extra or abnormal chromosomes. Having extra genetic material changes the way the brain and body develop. The type of Down syndrome depends on how many cells have the extra or abnormal chromosomes.

Medical experts believe the cell changes most often start in a woman's egg before or at conception. Less often, the error occurs in sperm atconception. It is not known what causes the cells to divide abnormally. One type of Down syndrome, called translocation-type, may be passed down through families (inherited).

Down Syndrome - Symptoms

There are more than 50 features ofDown syndrome. But not every person with Down syndrome has all the same features or health problems. Some features and problems are common.

Body shape and size

• Short stature (height). A child often grows slowly and is shorter than average as an adult.
• Low muscle tone (hypotonia) throughout the body. Belly muscles with low muscle tone can make thestomach stick out.
• A short, wide neck. The neck may have excess fat and skin.
• Short, stocky arms and legs. Some children also have a wide space between the big toe and second toe.

Face shape and features

• Slanted eyes. The doctor may also notice small spots on the colored part of the eye (iris).
• A nasal bridge that looks pushed in. The nasal bridge is the flat area between the nose and eyes.
• Small ears. And they may be set low on the head.
• Irregularly shaped mouth and tongue. The child's tongue may partly stick out. The roof of the mouth (palate) may be narrow and high with a downward curve.
• Irregular and crooked teeth. Teeth often come in late and not in the same order that other children's teeth come in.

Health problems

Some health problems related to Down syndrome are:

• Intellectual disability. Most children with Down syndrome have mild to moderate cognitive disability.
• Heart defects. About half of the children who have Down syndrome are born with a heart defect.
• Hypothyroidism, celiac disease, and eye conditions.
• Respiratory infections, constipation, hearing problems, or dental problems.
• Depression or behavior problems associated with ADHD or autism.