What is Down Syndrome?
Down syndrome is a genetic condition that is associated with intellectual disability and developmental delays beginning at birth. It can result in:
- Characteristic facial appearance
- Weak muscle tone
- Heart defects
- Increased risk for vision and hearing problems
- Gastroesophageal reflux and celiac disease
- Increased risk for dementia
Where does Down Syndrome come from?
Down syndrome is caused by abnormal cell division at some point before birth. The most common form of Down syndrome occurs when a person has an extra copy of chromosome 21 in their cells. Other forms of Down syndrome are caused by only some cells having the extra copy or part of chromosome 21 attaching itself to another chromosome. This last variation is called Translocation Down Syndrome.
It is very unlikely that Down syndrome will be inherited from one of a child’s parents. The main risk factors are the age of the birthing person, the parents have already had a child who has Down syndrome, and whether or not either of the parents had a translocated chromosome 21, which accounts for 3 – 4% of children with Down syndrome.
Females over the age of 35 who become pregnant are more likely to have a pregnancy affected by Down syndrome than those becoming pregnant at a younger age. A genetic counselor could answer questions about your personal risk level.
What Down Syndrome symptoms do I look for?
There are characteristic physical features associated with Down syndrome, which is usually diagnosed at birth or before. The way they appear will vary and your child will still look like you in some ways.
- Short neck, with excess skin at the back of the neck
- Wide, short hands with short fingers
- A single, deep, crease across the palm of the hand
- A deep groove between the first and second toes
- Flattened facial profile and nose
- Small head, ears, and mouth
- Decreased or poor muscle tone
- Upward slanting eyes, often with a skin fold that comes out from the upper eyelid and covers the inner corner of the eye
- White spots on the colored part of the eye
How is Down Syndrome disorder treated?
First of all, there are many resources for people with Down syndrome and those who love them. Physicians, special educators, speech therapists, occupational therapists, physical therapists, and social workers can all be involved depending on what your child needs.
There is no single, standard treatment for Down syndrome and it can’t be cured, but there are ways to help someone with Down syndrome be more independent and self-sufficient. These treatments are tailored to each person based on their physical and intellectual needs as well as personal abilities.
Down syndrome also carries a greater risk for health problems and conditions, many of which may require immediate care right after birth, occasional treatment throughout childhood and adolescence, or long-term treatments throughout life. It’s important to keep up with the medical care and ensure that your loved one always has what they need.
Early intervention programs can provide resources and professional assistance that will have lasting effects to help your child’s life for the long-term. This assistance can begin shortly after birth and often continues until age 3 when most children receive interventions and treatment through a local school district, though that’s not the only source.
What should I do next?
Every child is their own person and has their own needs in order to live their best, healthiest life. If your child has Down syndrome and you’re looking for specialized care or support for their next developmental step, we’d love to be there to complement the healthcare professionals you may already be working with or planning to work with or to pick up where they left off.
Your community may have support groups for parents and caregivers or play groups for children who have Down syndrome. Sometimes all it takes is talking to someone who’s experiencing the same thing you are.
If you’re just beginning to search for the team who will help your child thrive, you may also find the following licensed healthcare professionals helpful.
- Pediatrician or primary care physician
- Mental health specialist