April 27, 2022 | According to the Centers for Disease Control and Prevention, approximately 6,000 babies are born in the United State each year with Down syndrome. Chromosomes are small “packages” of genes in the body that determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is “trisomy.” Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby. Even though people with Down syndrome might act and look similar, each person has different abilities. People with Down syndrome usually have an IQ in the mildly-to-moderately low range and are slower to speak than other children.

April 27, 2022 | One in every 700 babies born in this county each year will have Down syndrome, making it the most common chromosomal condition diagnosed in the United States. There are three types of Down syndrome. It’s difficult to tell the difference between each type without looking at the chromosomes because the physical features and behaviors are similar. About 95 per cent of people with Down syndrome have Trisomy 21. With this type of Down syndrome, each cell in the body has three separate copies of chromosome 21 instead of the usual two copies. Translocation Down syndrome 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. A child with mosaic Down syndrome may have some cells that have three copies of chromosome 21, but other cells have the typical two copies of chromosome 21.

April 27, 2022 | Researchers know that Down syndrome is caused by an extra chromosome, but no one knows for sure why the condition occurs or how many different factors play a role. One factor that increases the risk for having a baby with Down syndrome is 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. However, the majority of babies with Down syndrome are born to mothers less than 35 years old, because there are many more births among younger women. A person with Down syndrome typically has a short neck, a flattened facial profile and upward slanting eyes. Because of their poor muscle tone, a child with Down syndrome may be slow to learn to turn over, stand and walk. Despite these delays, children with the condition can learn to participate in physical exercise activities like other children.

April 27, 2022 | There are several screening tests a pregnant woman can undergo to determine if her child will have Down syndrome. Diagnostic tests are usually performed after a positive screening test in order to confirm a Down syndrome diagnosis. Dr. Bradley Schaefer, director of the UAMS Division of Medical Genetics, says these tests look for changes in the child’s chromosomes that would indicate they have the condition. The tests include chorionic villus sampling, or CVS, which examines material from the placenta, and percutaneous umbilical blood sampling. Amniocentesis involves examining the amniotic fluid found in the sac surrounding the baby. According to Dr. Schaefer, many people with Down syndrome have the common facial features and no other major birth defects. However, some people might have one or more major birth defects or other medical problems, such as hearing loss, sleep apnea or eye diseases.

April 27, 2022 | Cognitive impairment, problems with thinking and learning, is common in people with Down syndrome and usually ranges from mild to moderate. Most children with Down syndrome develop the communication skills they need, although it might take longer for them to do so compared with other children. Early, ongoing speech and language interventions to encourage expressive language and improve speech are particularly helpful. Because it is a lifelong condition, services early in life will often help babies and children with Down syndrome to improve their physical and intellectual abilities. Most of these services focus on helping children develop to their full potential. These services include speech and physical therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes.