Down Syndrome is also known as Trisomy 21. It affects 1 in 1,000 births and is a genetic condition that typically causes some level of learning disability.
It is usually caused by an extra chromosome number 21 in a baby’s cell. In most cases it isn’t inherited, it is simply the result of a one off genetic change in the sperm or the egg. There is a small chance of having a baby with Down Syndrome in any pregnancy, but the likelihood increases with the age of the mother.
Down Syndrome can be confirmed during pregnancy with an invasive test, either Chorionic Villus Sampling (CVS) or Amniocentesis. There is also a non-invasive test which is available privately. Otherwise a diagnosis is made soon after birth.
Common physical characteristics may include:
- Floppiness (Hypotonia)
- Eyes that slant upwards and outwards.
- A small mouth with a tongue that may stick out.
- Below average weight and length at birth.
- Their palm may have only one crease across it.
Although children may share these characteristics they do not all look the same. They will look more like their family members than other children with Down Syndrome.
Children with Down Syndrome have different personalities and abilities. They may be slower to learn skills like sitting, standing, walking and talking and often need more support as they grow, including extra help in school.
Medical problems
There are some medical conditions more common in children with Down Syndrome, these include:
- Problems with their heart and/or bowel.
- Difficulties with hearing and/or vision.
- A higher likelihood of infections.
- Approximately 1 in 10 likelihood of Autism Spectrum Disorder (ASD) or Attention Deficit Hyperactivity Disorder (ADHD).
Support
There is a lot of support available to help children with Down’s Syndrome lead healthy and fulfilling lives.
These include:
- Access to good healthcare and support for your child’s development, speech and language therapy, physiotherapy and Portage.
- Support group: Downs Syndrome Association.
www.downs-syndrome.org.uk - In the longer term people with Down Syndrome may be able to have relationships, go to work and live semi-independent lives.