World Down Syndrome Day

World Down Syndrome Day | 21 March 2019 …

World Down Syndrome Day (WDSD), 21 March, is a global awareness day which has been officially observed by the United Nations since 2012.

Down Syndrome International (DSi) encourages our friends all over the world to choose their own activities and events on WDSD to help raise awareness of what Down syndrome is, what it means to have Down syndrome, and how people with Down syndrome play a vital role in our lives and communities.

For this purpose DSi created this dedicated website as a single meeting place where the global community can share their experiences and advertise their activities (see WDSD World Events) and participate in DSi’s WDSD initiatives, including our WDSD Call To Action, the WDSD Global Video Event, the WDSD Conference at UN Headquarters, New York, the WDSD event at UN Geneva, the LOTS OF SOCKS campaign and the WDSD Awards.

Join in with us to create a single global voice for advocating for the rights, inclusion and well being of people with Down syndrome on 21 March. Each year the voice of people with Down syndrome, and those who live and work with them, grows louder.

What Do People Do?
World Down Syndrome Day is observed in more than 60 countries worldwide. Many organizations and communities, including the United Nations (UN) and Down Syndrome International, promote World Down Syndrome Day to raise people’s awareness and understanding of Down syndrome.

Activities and events that take place on March 21 showcase the abilities and accomplishments of people with Down syndrome. These events also focus on encouraging independence, self-advocacy and freedom of choices for people with Down syndrome.

Background
Down syndrome is a naturally occurring chromosomal arrangement that has always been a part of the human condition, being universally present across racial, gender and socio-economic lines. According to the UN, it affects about 1 in 800 births worldwide, causing intellectual disability and associated medical issues.

Organizations such as Down Syndrome International have been organizing various activities for World Down Syndrome Day since 2006. In November 2011, the UN decided to officially observe the event from 2012 onwards, inviting governments and businesses to take part in World Down Syndrome Day.

What You Should Know?

A syndrome is a set of medical signs and symptoms that are correlated with each other and, often, with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning “concurrence”. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words syndrome, disease, and disorder end up being used interchangeably for them. This is especially true of inherited syndromes. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the syndrome nomenclature. In other instances, a syndrome is not specific to only one disease. For example, toxic shock syndrome can be caused by various toxins; premotor syndrome can be caused by various brain lesions; and premenstrual syndrome is not a disease but simply a set of symptoms.

If an underlying genetic cause is suspected but not known, a condition may be referred to as a genetic association (often just “association” in context). By definition, an association indicates that the collection of signs and symptoms occurs in combination more frequently than would be likely by chance alone.

Syndromes are often named after the physician or group of physicians that discovered them or initially described the full clinical picture. Such eponymous syndrome names are examples of medical eponyms. Recently, there has been a shift towards naming conditions descriptively (by symptoms or underlying cause) rather than eponymously, but the eponymous syndrome names often persist in common usage.

Down syndrome is not a disease, disorder, defect or medical condition and therefore does not require treatment, prevention or a cure. It is inappropriate and offensive to refer to people with Down syndrome as “afflicted with” or “suffering from” it. People with Down syndrome can go to speech or motor therapy, but this does not treat Down syndrome itself.

Down syndrome is a naturally occurring chromosomal arrangement that has always been a part of the human condition. The sole characteristic shared by all people with Down syndrome is the presence of extra genetic material associated with the 21st chromosome. This happens because of an error during cell division when the egg and sperm first meet. The effects of that extra genetic material vary greatly from individual to individual.

Symptoms
Each person with Down syndrome is an individual — intellectual and developmental problems may be mild, moderate or severe. Some people are healthy while others have significant health problems such as serious heart defects.

Children and adults with Down syndrome have distinct facial features. Though not all people with Down syndrome have the same features, some of the more common features include:

Flattened face
Small head
Short neck
Protruding tongue
Upward slanting eye lids (palpebral fissures)
Unusually shaped or small ears
Poor muscle tone
Broad, short hands with a single crease in the palm
Relatively short fingers and small hands and feet
Excessive flexibility
Tiny white spots on the colored part (iris) of the eye called Brushfield’s spots
Short height
Infants with Down syndrome may be average size, but typically they grow slowly and remain shorter than other children the same age.

Intellectual disabilities
Most children with Down syndrome have mild to moderate cognitive impairment. Language is delayed, and both short and long-term memory is affected.

When to see a doctor
Children with Down syndrome usually are diagnosed before or at birth. However, if you have any questions regarding your pregnancy or your child’s growth and development, talk with your doctor.

Causes
Human cells normally contain 23 pairs of chromosomes. One chromosome in each pair comes from your father, the other from your mother.

Down syndrome results when abnormal cell division involving chromosome 21 occurs. These cell division abnormalities result in an extra partial or full chromosome 21. This extra genetic material is responsible for the characteristic features and developmental problems of Down syndrome. Any one of three genetic variations can cause Down syndrome:

Trisomy 21. About 95 percent of the time, Down syndrome is caused by trisomy 21 — the person has three copies of chromosome 21, instead of the usual two copies, in all cells. This is caused by abnormal cell division during the development of the sperm cell or the egg cell.
Mosaic Down syndrome. In this rare form of Down syndrome, a person has only some cells with an extra copy of chromosome 21. This mosaic of normal and abnormal cells is caused by abnormal cell division after fertilization.
Translocation Down syndrome. Down syndrome can also occur when a portion of chromosome 21 becomes attached (translocated) onto another chromosome, before or at conception. These children have the usual two copies of chromosome 21, but they also have additional genetic material from chromosome 21 attached to another chromosome.
There are no known behavioral or environmental factors that cause Down syndrome.

Is it inherited?
Most of the time, Down syndrome isn’t inherited. It’s caused by a mistake in cell division during early development of the fetus.

Translocation Down syndrome can be passed from parent to child. However, only about 3 to 4 percent of children with Down syndrome have translocation and only some of them inherited it from one of their parents.

When balanced translocations are inherited, the mother or father has some rearranged genetic material from chromosome 21 on another chromosome, but no extra genetic material. This means he or she has no signs or symptoms of Down syndrome, but can pass an unbalanced translocation on to children, causing Down syndrome in the children.

Risk factors
Some parents have a greater risk of having a baby with Down syndrome. Risk factors include:

Advancing maternal age. A woman’s chances of giving birth to a child with Down syndrome increase with age because older eggs have a greater risk of improper chromosome division. A woman’s risk of conceiving a child with Down syndrome increases after 35 years of age. However, most children with Down syndrome are born to women under age 35 because younger women have far more babies.
Being carriers of the genetic translocation for Down syndrome. Both men and women can pass the genetic translocation for Down syndrome on to their children.
Having had one child with Down syndrome. Parents who have one child with Down syndrome and parents who have a translocation themselves are at an increased risk of having another child with Down syndrome. A genetic counselor can help parents assess the risk of having a second child with Down syndrome.

Complications

People with Down syndrome can have a variety of complications, some of which become more prominent as they get older. These complications can include:

Heart defects. About half the children with Down syndrome are born with some type of congenital heart defect. These heart problems can be life-threatening and may require surgery in early infancy.

Gastrointestinal (GI) defects. GI abnormalities occur in some children with Down syndrome and may include abnormalities of the intestines, esophagus, trachea and anus. The risk of developing digestive problems, such as GI blockage, heartburn (gastroesophageal reflux) or celiac disease, may be increased.

Immune disorders. Because of abnormalities in their immune systems, people with Down syndrome are at increased risk of developing autoimmune disorders, some forms of cancer, and infectious diseases, such as pneumonia.

Sleep apnea. Because of soft tissue and skeletal changes that lead to the obstruction of their airways, children and adults with Down syndrome are at greater risk of obstructive sleep apnea.

Obesity. People with Down syndrome have a greater tendency to be obese compared with the general population.

Spinal problems. Some people with Down syndrome may have a misalignment of the top two vertebrae in the neck (atlantoaxial instability). This condition puts them at risk of serious injury to the spinal cord from overextension of the neck.

Leukemia. Young children with Down syndrome have an increased risk of leukemia.

Dementia. People with Down syndrome have a greatly increased risk of dementia — signs and symptoms may begin around age 50. Having Down syndrome also increases the risk of developing Alzheimer’s disease.

Other problems. Down syndrome may also be associated with other health conditions, including endocrine problems, dental problems, seizures, ear infections, and hearing and vision problems.

For people with Down syndrome, getting routine medical care and treating issues when needed can help with maintaining a healthy lifestyle.

Life expectancy

Life spans have increased dramatically for people with Down syndrome. Today, someone with Down syndrome can expect to live more than 60 years, depending on the severity of health problems.

Prevention
There’s no way to prevent Down syndrome. If you’re at high risk of having a child with Down syndrome or you already have one child with Down syndrome, you may want to consult a genetic counselor before becoming pregnant.

A genetic counselor can help you understand your chances of having a child with Down syndrome. He or she can also explain the prenatal tests that are available and help explain the pros and cons of testing.

With Agency Report

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