This is a genetic syndrome caused by having an extra copy of Chromosome 21. At conception, a fertilized egg usually has 23 pairs of chromosomes. In Down Syndrome there are 3 copies of genetic material on Chromosome 21. This changes the normal development of the brain and body.
Typical signs and symptoms of Down Syndrome include
- Mild to moderate decrease in IQ
- Low muscle tone
- Developmental delays
Typical physical signs of:
- Flat face with an upward slant to the eyes, short neck, and abnormally shaped ears
- A single deep crease in the palm of the hand
- White spots on the iris of the eye
- Small hands and feet
Associated health conditions can include:
- Heart defects
- Hearing problems
- Intestinal problems such as blocked small intestine or esophagus
- Celiac disease (sensitivity to gluten)
- Eye problems, such as cataracts
- Thyroid dysfunctions
- Skeletal problems
- Dementia-similar to Alzheimer’s
Down Syndrome cannot be cured. However, there are interventions that can allow the child to function at their optimal level.
These include:
- Speech, Occupational, and Physical therapies
- Special education classes
Risk factors for Down Syndrome include
- Advancing age of the mother, especially after 35
- Already having had a child with Down Syndrome
- Parents who themselves have an abnormality with Chromosome 21
External Resources
National Down Syndrome Society