What is Down Syndrome?

Down syndrome is a genetic disorder that causes intellectual and physical delays and can cause serious health problems.

Down syndrome is caused by an extra 21st chromosome in each cell of your body. This additional chromosome can make it difficult for your body to function normally.

The features of Down syndrome vary widely, ranging from mild to severe. While some people with Down syndrome are able to live independently, many need lifelong care and supervision.

Down syndrome is a genetic disorder caused by the presence of an extra chromosome. This extra chromosome results in the physical traits of Down syndrome, as well as learning disabilities and cognitive delays. The extra chromosome can be inherited from either parent or be a translocation, which occurs when the two chromosomes that are supposed to pair up during meiosis don’t do so. There are three types of Down syndrome: trisomy 21 (nondisjunction), translocation and mosaicism. Translocation occurs when there is an exchange of genetic material between two chromosomes, while mosaicism occurs when there are two separate cell lines present in one individual.

How Many Babies are Born with Down Syndrome?

There is no cure for Down syndrome. However, there are many ways to help children with Down syndrome live happy, healthy and productive lives.

The number of babies born with Down syndrome has changed over time. In the United States, about 6 out of every 1,000 babies are born with Down syndrome.

In the United Kingdom, about 1 out of every 700 babies is born with Down syndrome.

Babies with Down syndrome have a higher risk of complications before birth and during labor and delivery than other babies. Many of these complications can be prevented or treated with prenatal care and specialized care after birth.

Types of Down Syndrome

Down syndrome is a genetic condition. It occurs when the child inherits an extra chromosome from his or her mother and father. The extra chromosome affects development and growth of the child and causes some of the characteristics that we associate with Down syndrome.

There are three main types of Down syndrome:

Trisomy 21 is the most common type of Down syndrome. It accounts for about 95 percent of all cases, according to the National Down Syndrome Society.

Monosomy 21 is rarer than Trisomy 21, but still accounts for about 4 percent of all cases. This form is caused by a deletion in the cells’ DNA during conception or early in fetal development.

Translocation trisomy 21 accounts for less than 1 percent of all cases. This type occurs when two chromosomes swap places during cell division, resulting in an extra chromosome 21 in some cells and not others (see image).

Causes and Risk Factors

There are many factors that can contribute to the development of IBD. These include:

Genetics. There’s some evidence to suggest that genetics play a role in the development of IBD, particularly ulcerative colitis. The disease tends to run in families, so if you have a parent or sibling with IBD, there’s an increased chance that you’ll develop it as well.

Environment. Certain environmental factors may trigger IBD and aggravate symptoms. These include smoking, diet and stress. Smoking has been linked with worsening of symptoms in both UC and CD, while certain foods can trigger symptoms in UC patients. Stress can also worsen symptoms for some people with IBD, but not all patients experience this effect from stress.

Age at diagnosis. Children younger than 10 years old are more likely than older children or adults to develop Crohn’s disease (CD). In contrast, ulcerative colitis (UC) usually develops before age 30 years in most people with the condition.

Diagnosis

The first step in diagnosing Down syndrome is to evaluate the child’s physical characteristics and medical history, including:

Physical characteristics: The child has a flat facial profile, a small chin, and eyes that slant upward. Other common physical features include a flat back of the head (known as occupant), folds of skin at the back of the neck, an upward-slanting mouth with an open space between the upper lip and the gum, smaller-than-normal ears, and poor muscle tone. Many people with Down syndrome have a degree of mental retardation. Although some individuals with Down syndrome have no physical abnormalities, most have some degree of mental retardation.Many people with Down syndrome are prone to medical problems such as heart defects, congenital heart disease or respiratory disorders such as sleep apnea.

Medical history: The doctor will ask about any previous medical conditions or illnesses related to birth defects or other conditions that might indicate Down syndrome or other chromosome problems such as Turner’s syndrome (an XO karyotype).

Blood tests: The doctor may order one or more blood tests to confirm the diagnosis of Down Syndrome.

Screening Tests

Screening tests are used to identify people at high risk for a disease. They are not diagnostic. They can detect the presence of a disease or condition in people who do not have any symptoms. Screening tests can help you decide if you should see your doctor for further testing.

Screening tests are often used to find the cause for certain symptoms, such as fatigue or chest pain.

Screening tests are also used to find treatable health problems that may be causing a person’s symptoms (called “early detection”). This is called screening for disease prevention or screening for life-saving therapies (also known as screening for early intervention).

Screening may be done as part of routine health care or as part of an organized program (such as mammography or Pap smears).

Diagnostic Tests

Ultrasound (sonogram). This test uses sound waves to create pictures of your baby in the womb. It can show whether or not your baby has certain birth defects, including Down syndrome. Ultrasounds are usually done between weeks 11 and 14 of pregnancy (earlier if you’re having twins or triplets).

Blood test . A blood test can tell whether or not your body is making certain hormones that help cells develop normally during pregnancy. Normally, these hormones rise during pregnancy in women who aren’t carrying babies with Down syndrome. But if you make too much or too little of these hormones, it may indicate that there’s something wrong with your baby’s chromosomes—and that he or she might be at risk for having Down syndrome.

Treatments

The goal of treatment for Down syndrome is to provide the individual with the best quality of life possible. There is no cure for Down syndrome, but there are many ways to help people with Down syndrome live longer, healthier lives.

Treatment for Down syndrome focuses on providing support and care for people with Down syndrome throughout their lives. This includes physical, occupational and speech therapy as well as psychological counseling.

People with Down syndrome need more medical care than other people. They are more likely to develop severe illnesses such as leukemia, dementia and heart problems than other people. They also have an increased risk of respiratory infections, thyroid problems, vision loss and hearing loss as they get older.

The following treatments are used to treat Down syndrome:

Physical therapy can help someone with Down syndrome improve their motor skills so they are able to move more easily and perform everyday activities. Physical therapists may use stretching techniques or exercises such as walking or running on a treadmill to help improve muscle tone and flexibility. A physical therapist may also teach parents how to safely lift their child if he or she has limited mobility in order to prevent injury from falls or mishandling by others who may handle the child without proper training or knowledge about his or her medical condition.