October Awareness Month: Down Syndrome

October is Down Syndrome Awareness Month in the United States and it is a chance to put the spotlight on the condition and raise its public profile.  During October, people with Down syndrome are highlighted, showcasing their talents and accomplishments.  Down Syndrome Awareness Month is not about celebrating a disability; it is about educating the public and raising awareness about these unique people.

What is Down syndrome?

Down syndrome is a genetic condition in which a person is born with an extra chromosome.  Chromosomes are small portions of the genes in the body.  Genes determine how a baby will grow and develop in the womb and after birth.  

Having an extra pair of chromosomes can cause both physical and mental challenges for an infant.

What are the common physical characteristics associated with Down syndrome?

There are some common physical features which help identify if a baby has Down syndrome and these include:

• Short neck
• Almond shaped eyes that slant upward
• Flattened face, especially at the bridge of the nose
• Small feet and hands
• Small ears
• Tiny white spots on the iris of the eye
• A protruding tongue
• Single line on the palmar crease of the hand
• Small pinky fingers that may curve towards the thumb
• Shorter height in children and as adults
• Poor muscle tone
• Loose joints

How common is Down syndrome?

According to the Centers for Disease Control, Down syndrome is the most common chromosomal condition diagnosed in America.

When taking this figure into consideration it means that 1 out of every 700 babies born are diagnosed with Down syndrome. 

See Also: Down's syndrome: What Parents Need to Know

How many types of Down syndrome are there?

There are three different types of Down syndrome and people are often unable to tell the difference without looking at the chromosomal profile, because the physical characteristics and behaviors are very similar.  Listed are the three different types of Down syndrome and what makes each one different than the other:

• Trisomy 21: Approximately 95% of people born with Down syndrome have Trisomy 21. With Trisomy 21, each cell in the body has 3 separate copies of chromosome 21 rather than the usual 2 copies.
• Translocation Down syndrome: Only a small percentage of people have this type of Down syndrome.  This type occurs when an extra portion or a whole extra chromosome 21 is present, but it attached to a different chromosome instead of being a separate chromosome 21.
• Mosaic Down syndrome: With Mosaic Down syndrome, it is a combination or mixture of Trisomy 21 and Translocation Down syndrome.  For people with Mosaic Down syndrome, some of their cells have three copies of chromosome 21, but other cells only have two copies. 

What Are The Causes Or Risk Factors Of Down syndrome?

With an extra copy of chromosome 21, people with Down syndrome face physical and developmental challenges.  Medical researchers know Down syndrome is caused by an extra chromosome, but it is not known what other issues play a role in how and why the condition develops.  Women that are older than 35 years of age when they become pregnant are more likely to have a child born with Down syndrome. However, there is no definitive research which indicates that Down syndrome is caused by environmental factors or the activities of the parents before or during pregnancy.

Does Down syndrome run in families?

All three types of Down syndrome are genetic conditions, but only a small portion of all cases can be contributed to a family link.  

The age of the mother does not play a factor in the risk of Trisomy 21.  Most instances of Down syndrome are spontaneous and happen by chance.

How is Down syndrome diagnosed?

The American College of Obstetrics and Gynecologists recommends the option of screening and testing for Down syndrome for all pregnant women, no matter what the age.  Screening tests can show the likelihood that a woman is carrying a baby with Down syndrome.  Diagnostic testing can show if a baby has Down syndrome.  Amniocentesis, blood tests, ultrasound and chorionic villus sampling and DNA testing are all can examine genetic markers and physical characteristics which are indicative of an infant having Down syndrome.

What types of health problems are present among children with Down syndrome?

Some health issues among people with Down syndrome are more common than with the general population.  The following health conditions are higher among people with Down syndrome:

• Infections:  Respiratory infections are more common in those with Down syndrome, particularly during the first five years of life People with Down syndrome may have an increased chance of infections because their immune system may not be normally developed.
• Leukemia: People with Down syndrome have a 10-20% higher risk of developing leukemia. 
• Obstructive sleep apnea: This is a condition in which a person’s breathing is temporarily shuts down while sleeping.
• Eye diseases: Children with Down syndrome are more likely to have cataracts and other eye conditions which require prescription eyeglasses.
• Hearing: A large number of children with Down syndrome experience hearing loss, sometimes to a severe extent.  Mild hearing loss can lead to speech and language difficulties.
• Heart defects: Some children with Down syndrome are born with congenital heart defects.

See Also: New Findings Give Hope For Down's Syndrome Patients

Prognosis

Down syndrome is a lifelong condition and diagnosing it early is the key to helping babies and children improve their physical and intellectual capabilities.  

Many people who have Down syndrome lead a productive life, hold a job and live independently. By celebrating Down syndrome awareness, it can help everyone gain insight into the condition and provide people with an understanding they may not have had before.