People with Down syndrome can experience delays in physical growth, mild to a moderate cognitive disability, as well as having characteristic facial features. Knowledge of this condition and its levels of ability will allow you to better understand how to support individuals with Down syndrome. About 6,000 babies are born in the U.S. each year with Down Syndrome. It is the most common chromosomal disorder. There are many physical therapy considerations for children with Down syndrome that can help build strength, coordination, and balance.
Types of Down Syndrome
When the sperm or egg cell are developing, abnormal cell division occurs. This results in Down syndrome. There are three different types of the disorder to be aware of.
The most common type of Down syndrome is trisomy 21. 95 percent of the time, Down syndrome is caused by this, and it affects about 5,000 babies each year. Instead of the usual pairing of each chromosome, there is a third copy in each cell in the body.
Translocation Down Syndrome
This type of Down syndrome is caused by the rearranging of chromosome material. Just like trisomy 21, there are three number 21 chromosomes, however, one of those is attached to another chromosome rather than being separate.
Mosaic Down Syndrome
This is the rarest form of Down syndrome. People with Mosaic Down syndrome have a mixture of cells. Some have two copies of chromosome 21 like the general public and others have three. It’s also known as mosaicism. This type can be more difficult to detect as only one to two percent of individuals have it. The cell mixture offering some normal and some trisomy 21 in the body shows fewer characteristics and leaves many undiagnosed with this condition.
Detecting Down Syndrome
Down syndrome is often done during pregnancy with prenatal testing. The diagnostic test, Chorionic villus sampling (CVS), can identify this condition by retrieving cells from the placenta to analyze the fetus’s chromosomes. It’s usually performed between ten and thirteen weeks of pregnancy (within the first trimester).
Test to detect Down syndrome can also be done after birth using karyotype, which is a chromosomal analysis. This diagnostic test determines the number of chromosomes in the cell nuclei as well as their visual appearance. Additionally, physical features of Down syndrome can often be noted visually after birth.
Is It a Disability?
Due to the presence of the extra chromosome, the way the child’s brain and body develop is affected. This can lead to developmental delays. It may also cause intellectual disability and increase the individual’s risk for particular medical issues. Down syndrome affects about one in every seven hundred children and is the most common genetically caused intellectual disability.
Behaviors of Down Syndrome
It’s been noted that children with Down syndrome tend to be very empathetic to the feelings of others around them. If someone close to them is experiencing strong feelings such as anger or anxiety, those feelings can be picked up by the child. It’s recommended that positive reinforcement is implemented for good behaviors and unexpected or poor behavior is ignored.
Other behaviors associated with this genetic disorder include speech and language development delays, problems holding attention, difficulty sleeping, tantrums or stubbornness, cognitive delays, and prolonged issues when toilet training. Many of these behaviors will show in all children as they begin to grow and learn.
Is it Heredity?
Though Down syndrome is a genetic condition, it’s not usually hereditary. The cell divisions for trisomy 21 and mosaicism are random and not inherited from either parent. However, one third of people with translocation Down syndrome inherited it. That’s only about 1 percent of people with Down syndrome. It is possible for both parents to carry the translocation Down syndrome gene without any symptoms or signs to indicate it.
What Are the Statistics?
When furthering your understanding of Down syndrome and its types, it’s essential to know the statistics surrounding it. Down syndrome is not preventable, however, it’s ideal to know the risks and have as much time to plan as possible.
Most Babies Born with Down Syndrome
In regard to maternal age, 80 percent of children with trisomy 21 or mosaic Down syndrome are born with mothers under thirty-five years old. However, these numbers are slightly skewed—younger women have more babies so the number of Down syndrome cases is inevitably higher.
Most at Risk Age Group for Having Babies with Down Syndrome
Mothers older than thirty-five years old are more likely to have a baby affected by this condition. The National Down Syndrome Society states that women thirty-five years of age or older have approximately a one in three-hundred-fifty chance of having a baby with Down syndrome. By age forty, this number increases to one in one hundred. Finally, one in thirty babies conceived at age forty-five will have Down syndrome.
Likelihood of Having Multiple Children with Down Syndrome
There is a risk of having an additional child with trisomy 21 Down syndrome. If a woman has a child with this genetic condition, the likelihood that she will conceive a second child with Down syndrome is about one in one hundred before age forty. For individuals with a child with translocation Down syndrome, there is about a 10-15 percent risk if the mother is the carrier and a three percent if the father is the carrier.
Variations in Features
Some of the common physical features that make Down syndrome identifiable are:
- A flattened bridge of the nose and face
- Upward slanting, almond-shaped eyes
- Smaller ears, hands, and feet
- A shortened neck
- A protruding tongue that often sticks out
- White spots on the irises
Physical Limits and Therapies
The major physical need associated with children with Down syndrome is low muscle strength. As with any child, gross motor skills must be developed and maintained. Improving muscle tone and strength allows a child to sit, crawl, walk, explore, and interact with others. Physical therapy considerations for children with Down syndrome are activities that work to improve strength in muscles and help with coordination, balance, posture, and movement.
Chariot Innovations created the MiraColt, a therapeutic riding horse simulator for developing these gross motor skills. Equine therapy has been proven to work many muscles at once while stimulating the brain to allow for all-over therapy to take place in a single session. This machinery offers such therapy from the comfort of a therapy office.
A Down syndrome diagnosis shouldn’t hinder you from being a family. Early detection will help you prepare for whatever hurdles you’re going to face. With your help, children with Down syndrome are extremely capable of meeting many of the same developmental milestones as other children. There is a lot to know about this genetic disorder and its types. Find groups and organizations advocating for Down syndrome to seek the additional support you’ll need as your family finds its way.