Tag: chromosome 21

Down Syndrome Awareness Month

This month we have the opportunity to raise public awareness about the condition Down Syndrome, as we advocate for the inclusion and acceptance of people with Down Syndrome. It is an unfortunate fact that people with Down Syndrome continue to face stereotypes and misconceptions about their abilities. We urge you to take this month to learn more about this condition and help us to spread the message of acceptance and respect for all people with Down Syndrome all year round.

What is Down Syndrome?

Down Syndrome is a genetic condition that occurs when a person is born with an extra chromosome. People are typically born with 46 chromosomes, but a person with Down Syndrome has an extra copy or part of an extra copy or chromosome 21.

There are three different types of Down Syndrome, and they are all dependent on how the extra chromosome 21 presents within the diagnosed person.

The most common type of Down Syndrome is called Trisomy 21, and about 95% of people who are diagnosed with Down Syndrome are diagnosed with this type. Trisomy 21 means that each cell within the body has three copies of chromosome 21 instead of the usual two copies.

The second most common type of Down Syndrome is called Translocation Down Syndrome and only about 3% of people diagnosed with Down Syndrome have this type. Translocation Down Syndrome occurs when an extra part or a whole extra chromosome 21 is present but attached ‘trans-located’ to a different chromosome, rather than being separate as is the case of Trisomy 21.

The least common type of Down Syndrome is called Mosaic Down Syndrome and only 2% of people who are diagnosed with Down Syndrome have this type. Mosaic Down Syndrome means that some of the cells in the body have three copies of chromosome 21, but other cells in the body still only have the typical two copies. Because only some of the cells in the body contain this additional chromosome this type of Down Syndrome presents less dominantly in physical features than the other two.

How do I know if my child has Down Syndrome?

About 6,000 babies are born with Down Syndrome in the US every year: that’s about 1 in every 700 babies. Down Syndrome can be detected in utero with screening tests and/or diagnostic tests. Screening tests can tell you if your pregnancy has a higher or lower chance of resulting in a baby with Down Syndrome, but they do not provide an absolute diagnosis. Diagnostic tests on the other hand, can typically detect whether a baby will have Down Syndrome. Diagnostic tests can be risky and are not generally performed until after a positive screening test. They include Chorionic villus sampling (CVS) which examines the material from the placenta, Amniocentesis which examines the amniotic fluid, and Percutaneous umbilical blood sampling (PUBS) which examines the blood from the umbilical cord. Each of these tests look for changes in the chromosomes that would indicate a Down Syndrome diagnosis.

What causes Down Syndrome?

Researchers know that Down Syndrome occurs when a person is born with an extra chromosome 21, but they are unsure how or why the extra chromosome forms. Many researchers believe that there are several different factors that play a role in whether the extra chromosome 21 will form in utero, but they are not entirely sure what those factors are. It is known that the likelihood of a baby being born with Down Syndrome increases with a mother’s age, but because more women give birth before they turn 35, more babies with Down Syndrome are born to women under 35 years of age. Nothing that a parent does during pregnancy is known to cause Down Syndrome.

What are the complications of Down Syndrome?

About half of people with Down Syndrome also have a congenital heart defect. They are also more prone to hearing loss, ear infections, obstructive sleep apnea, respiratory issues, eye diseases, poor eyesight, Alzhemer’s disease, leukemia, thyroid disorders and intestinal blockages at birth that require surgery.

In addition to the physical complications that can come along with Down Syndrome, it can also cause intellectual and developmental symptoms that can lead to cognitive impairment. Similar to the physical complications these symptoms can range from mild to moderate and include short attention span, poor judgement, impulsive behavior, slow learning, and delayed language and speech development.

What is the treatment for Down Syndrome?

Making sure that a child with Down Syndrome receives services early in life will help them to improve their physical and intellectual abilities and ensure that they reach their full potential into adulthood. Most of the services recommended for children with Down Syndrome focus specifically on helping them minimize the effects of any intellectual or developmental symptoms the condition is responsible for. Early intervention services include speech therapy, occupational therapy, and physical therapy.

These therapies can be beneficial to children with Down Syndrome past the years of early intervention as well. Each person with Down Syndrome has different talents, and they all have the ability to thrive. Down Syndrome is a lifelong condition and children with Down Syndrome may need extra help or attention in school, but with the proper treatment plan and early intervention many people with Down Syndrome are able to be mainstreamed and attend regular classes with their peers.

If you child has been diagnosed with Down Syndrome and you are interested in learning more about how Schreiber’s Pediatric Therapies can help your child visit: http://www.schreiberpediatric.org/therapy-services/

As a nationally recognized pediatric facility, the Schreiber Center for Pediatric Development provides family-centered education and therapy programs for infants, children and adolescents with disabilities, developmental delays, and acquired injuries. Our goal-oriented approach maximizes each child’s ability to function independently within the community.