Down Syndrome is a genetic condition that affects about 6000 babies in the United States every year. To understand any medical condition that is rooted in our genetic make-up, we first must understand a little bit about genetics. The human body is made up of cells. Within each cell is a specialized area known as the nucleus. The nucleus contains our genetic material, our chromosomes and DNA. If you remember from high school biology, DNA or Deoxyribonucleic Acid is a long chain of genetic material in the shape of a double helix. This long chain of material is packaged up by our bodies into chromosomes. Each person has 23 pairs of chromosomes. One copy came from our mother and one copy came from our father.
In the case of Down Syndrome there is an extra copy of chromosome 21, which is why you may hear Down Syndrome referred to as trisomy 21. In most cases, 95% according to the CDC, there is a true trisomy 21 in which an extra copy of chromosome 21 is present. Less frequently, about 3% of cases, you have Translocation Down Syndrome. In this case, a piece or complete extra copy of chromosome 21 is present. However, this materials has attached itself to another chromosome. The final and most rare is Mosaic Down Syndrome. In this case, the extra copy of chromosome 21 is only present in some cells.
The extra genetic material present in individuals with Down Syndrome has an impact on development and growth. There are both physical characteristics and medical conditions that may occur in children with Down Syndrome. Let’s start with common physical characteristics:
- A flattened face, especially across the bridge of the nose
- Almond-shaped eyes that slant upward and small ears
- Small hands and feet
- A single line across the palm of the hand (palmar crease)
- Shorter in height as children and adults
- Protruding tongue
In addition to these physical characteristics, individuals with Down Syndrome are at risk for several medical conditions. Not all individuals with Down Syndrome have these conditions. These are just areas to be aware of and know that your physician will monitor:
- Congenital Heart Defects: Conditions such as atrioventricular septal defect, patent ductus arteriosus, and tetralogy of Fallot. These conditions often require surgery, but some can be managed without.
- Atlantoaxial Instability: Increased movement between the 1st and 2nd vertebrae. Medical opinions on how to detect and manage this condition have fluctuated over the past 25 years or so. The most recent recommendations were published by the American Academy of Pediatrics in 2013. In general, the AAP recommends that testing such as X-Rays and MRIs are not needed unless changes in walking, use of hands, or bowl/bladder function are noted. However, special care should be given during medical procedures.
- Vision and Hearing
- Gastrointestinal Issues
- Decreased muscle tone
As a PT, what role do I play in the care and treatment of individuals with Down Syndrome? I have had the privilege of being one of the first therapy providers to work with infants with Down Syndrome during my years in early intervention. As a PT, the areas that I focus on most intensely are low muscle tone, especially as it impacts the development of gross motor skills.
- Low Tone Muscle Tone: As I described in a previous video, when low muscle tone is present, the resting/relaxed tension/tone in the muscle is low. The muscle often appears mushy and floppy. Due to this decreased muscle tone, active movement is more difficult. When the brain signals the muscle to contract, the resting tone is not present so each action requires more force to get to the resting position and then into the active movement. Children with low muscle tone have to work a lot harder to perform the movements and actions than children with average muscle tone. This means learning to move can be a lot of hard exhausting work. As a PT, when I work with kiddos with Down Syndrome I am focusing on strengthening their muscles so they are able to perform age appropriate gross motor skills and move throughout their environment in any way that makes them happy.
- Alignment: I am also keeping a very close eye on their alignment. When joints are surrounded and stabilized by muscles with low tone, often times there is extra movement (hypermobility). Over time, Hypermobility can lead to pain or excessive wear and tear on joints. This may not be evident until later in life, but in order to prevent it from happening it must be addressed when individuals are young.
Children with Down Syndrome can also benefit from occupational therapy services to improve fine motor and self-help skills. They may also benefit from speech/language therapy to improve communication skills. If low muscle tone is impacting a child’s ability to nurse and eat, assistance from an SLP may be helpful to work on these issues.
While direct therapy intervention is important, fitness and exercise that can be participated in through the lifetime is important too. Depending on the community where you live, there may be inclusive activities that allow individuals of all ability levels to participate in exercise. One of the most famous is the Special Olympics. Their website is full of resources and information for programs available near you. In my area, local community agencies provide activities like adaptive baseball, adaptive soccer, and even adaptive surfing.
Thanks so much for stopping by today. I hope you found this post helpful!
-Heather
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Hi Heather!
You mentioned in your video on low muscle tone that individuals with low tone often have their head forward, rounded shoulders and a protruding belly because they are relying on their skeleton to support them more than their muscles. Does strengthening the right muscles make it any easier to have better posture or is it always exhausting for them to “stand up straight” no matter how strong their muscles are?
Great question! Individuals with low muscle tone can absolutely strengthen their muscles to improve posture and increase endurance. I have a video on muscle tone that explains this topic (What is Muscle Tone?) and a blog post (https://www.pediatrictherapyessentials.com/what-is-muscle-tone/). Low Muscle Tone does not go away and strengthening may take a little longer, but with consistent effort strength and endurance can improve. Thanks so much for stopping by