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What Is Down Syndrome?

A French physician Jerome Lejeune discovered in 1959 that people who have the characteristics of Down Syndrome as described by John Langdon Down, all had one thing in common. They all had in common the fact that instead of the normal 46 chromosomes they had and extra chromosome or an extra partial chromosome. One in every 733 live births results in a baby born with Down Syndrome. Down Syndrome is a genetic condition.

The genetic syndrome affects female and male babies. It can strike any race or economic class. It is the most common of all genetic syndromes. Some sort of chromosomal mishap causes more than half of all miscarriages. An extra copy of the 21st chromosome is what makes the most common form of Down Syndrome.

Pregnant women over the age of 35 have the highest risk of giving birth to a baby with Down Syndrome. Her chances are 1 in 400 that she will conceive a child with Down Syndrome. At age 40 her risk has just increased to 1 in 110. Once she has her 45th birthday she now has a 1 in 35 chance of conceiving a child with Down Syndrome. Today more women are postponing having a family for career or educational reasons so more woman are older when they decide to start a family.

Facts:

There are approximately 5,000 Down Syndrome babies born every year in the United States.

80% of children born with Down Syndrome are born to moms who are 35 years old or younger.

Most individuals who have Down Syndrome have IQs that range from mild to moderate retardation.

Children with Down Syndrome are capable of being educated.

Individuals with Down Syndrome live at home with their families, go to school, have jobs, participate in sports, are active in their communities, socialize and have families.

Physical Characteristics:

A single transverse palmar crease across one or both hands

An almond shape to their eyes

Shorter than normal limbs

Poor muscle tones

Protruding tongue

Higher risk for congenital heart defects

Higher than normal risk for gastroesophageal reflux disease

Possible ear infections

Possible obstructive sleep apnea

Possible thyroid dysfunctions

Flat nasal bridge

Proper medical care, a nurturing environment, and education can together improve the lifestyle of the individual with Down Syndrome

A larger than normal space between the large toe and the 2nd toe

An IQ in the mild retardation range (IQ 50-70) or in the moderately retarded range (IQ 35-50)

Small oral cavity

Enlarged tongue near the tonsils

Short neck

White spots on the iris of the eye known as Brushfield spots

Very flexible joints

The symptoms of Down Syndrome can vary from one child to the next. One child with Down Syndrome may need a lot of medical intervention and the next child may have mild symptoms and lead a near normal life being healthy and leading an independent lifestyle. The symptoms can range from mild to severe.

Down Syndrome cannot be prevented as it is genetic in nature. It can however be detected during pregnancy. The medical issues associated with Down Syndrome can be treated and there are many community resources available to assist families dealing with downs.