Down Syndrome

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Down Syndrome

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The Biology Behind Down Syndrome

Current Research Being Done

The NICHD has conducted and supported Down syndrome research since its founding, including development of animal models to help study the syndrome, examination of specific genes and gene groups that may play a role in the syndrome, and understanding how maternal age plays a role in the disorder.

As of October 14th 2022, it was said that Viral Infections Are Less Frequent but More Severe in People With Down Syndrome Due to Oscillating Immune Response. People with Down syndrome are not frequently infected, but when present, these infections lead to more severe diseases.

Community Support Agencies

DSAT

-DSAT stands for The Down Syndrome Association of Toronto. -DSAT was created in 1987, and is an organization that is run by volunteers, parents and caregivers. -It is a non –profit charity, that rely strictly on fundraising, donations and grants which support these initiatives. -It is an association that has representation on school Boards, Committees and coalitions. -They have many programs such as sports and workout clubs, events for the families and much more. They also have events such as the buddy walk which is a walk for awareness and raises funds for Down syndrome.

History Of Down Syndrome

Down Syndrome was named after a British doctor named John Langdon Down. He fully described the syndrome as “Mongolism.” in 1866. The term Down syndrome didn’t become a term often used until the early 1970s. More was learned about the condition in 1959 when French Pediatrician/Geneticist Professor Jerome Lejeune discovered that individuals with Down syndrome have an extra chromosome. Shortly after, chromosome studies were developed to confirm the diagnosis of Down syndrome. The oldest case of down syndrome was over 4000 years ago.

Interesting Related Features

Independence In many countries, adults and children with Down syndrome are steadily improving. Many individuals with Down syndrome can live independently, take part in jobs, and enjoy normal recreational activities like many other people. Advances in medical care, better understanding of the developmental and educational needs of children with Down syndrome and increasing social acceptance are providing greater opportunities to grow and learn, and to participate in society.

Life Expectancy In 1983, the average life expectancy of a person with Down syndrome was 25 years old. As of today it is now 60, or even 70, years old.

Diagnosis The two basic types of tests available to detect Down syndrome during pregnancy are screening tests and diagnostic tests.

Diagnostic tests can typically detect whether or not a baby will have Down syndrome, but they can be more risky for the mother and developing baby.

A screening test can tell a woman and her healthcare provider whether her pregnancy has a lower or higher chance of having Down syndrome, and are safer for the mother and the developing baby.

Statistics Every year, about 6,000 babies born in the United States have Down syndrome. This means that Down syndrome occurs in about 1 in every 700 babies.

Symptoms

Major Birth Defects -Hearing loss -Obstructive sleep apnea, which is a condition where the -person’s breathing temporarily stops while asleep -Ear infections -Eye diseases -Heart defects present at birth

Signs after birth -A flattened face, especially the bridge of the nose -Almond-shaped eyes that slant up -A short neck -Small ears -A tongue that tends to stick out of the mouth -Tiny white spots on the iris (colored part) of the eye -Small hands and feet -A single line across the palm of the hand (palmar crease) -Small pinky fingers that sometimes curve toward the thumb -Poor muscle tone or loose joints -Shorter in height as children and adults

During Pregnancy Even though the likelihood of carrying a baby with Down syndrome can be estimated by screening during pregnancy, a person won't experience any symptoms of carrying a child with Down syndrome.

Treatments or Prevention

Unfortunately, there is no way to prevent Down syndrome. If someone is at high risk of having a child with Down syndrome or they already have one child with Down syndrome the person should consult a genetic counselor before becoming pregnant.

Treatments -They’re no treatments for down syndrome as it is a life long disability. However they’re various services around the world that help. -Services will often help babies and children with Down syndrome to improve their physical and intellectual abilities early in their life. These services include speech, occupational, and physical therapy. -Children with Down syndrome may also need extra help or attention in school. -A parent can also play a big part in the schooling process. Opportunities can be set up in the home environment to see what would happen at school so that the child knows what to expect and has some practice in similar situations.

Down Syndrome Occupational Therapy Demonstration

Risk Factors A factor that increases the risk for having a baby with Down syndrome is based on the mother’s age. Women who are 35 years or older when they become pregnant are more likely to have a pregnancy affected by Down syndrome than women who become pregnant at a younger age.

Cause Of Down Syndrome

There are three types of Down syndrome. Most times people can’t tell the difference between each type without looking at the chromosomes because the physical features and behaviors are so similar.

Mosaic Down syndrome About 2% of the people who have Down syndrome are effected by this type. For children with mosaic Down syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21. Children with mosaic Down syndrome may have the same features as other children with Down syndrome. However, they may have fewer features of the condition due to the presence of many cells with a typical number of chromosomes.

Translocation Down syndrome This type of down syndrome occurs for about 3% of people who have down syndrome. This occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.

Trisomy 21 About 95% of people with Down syndrome have Trisomy 21. With this type of Down syndrome, a person has three copies of chromosome 21, instead of two copies. This is caused by abnormal cell division during the development of the sperm cell or the egg cell. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.