Down’s syndrome is one of the most leading cause of intellectual disability, and millions of these people face various health challenges including learning and memory, Alzhemer’s disease, congenital heart disease, Hirschprung disease and cancer. The incidence of trisomy is influenced by maternal age and differs in population (between 1 in 319 and 1 in 1000 live births).
Down’s syndrome has high genetic complexity and phenotype variability. Trisomic foetuses are at elevated risk of miscarriage and people with Down’s syndrome are twice as likely to developed several medical conditions. Recent advancement in medical treatment with social support has increase the life expectancy for Down’s syndrome population.
Characteristics of Down’s syndrome
Everyone born with Down’s syndrome will have some level of learning disability, but this will be different for each person.
Types of Down syndrome
There are three types of Down’s syndrome:
- Trisomy 21: means there’s an extra copy of chromosome 21 in every cell. This is the most common form of Down syndrome.
- Mosaicism: this occurs when a child is born with an extra chromosome in some but not all of their cells. People with mosaic Down syndrome tend to have fewer symptoms than those with trisomy 21.
- Translocation: In this type of Down syndrome, children have only an extra part of chromosome 21. There are 46 total chromosomes. However, one of them has an extra piece of chromosome 21 attached.
Causes of Down’s syndrome
Down’s syndrome is caused by an extra chromosome in a baby’s cells. In most cases, this is not inherited, it’s simply as a result of one-off genetic change in the sperm or egg. There’s a small change of having a kid with Down’s syndrome with any pregnancy, but the likelihood increase with age of the mother.
For instance, a woman in her 20s has about 1 in 1,500 chance of having a baby with Down’s while a woman in her 40s has a 1 in 100 chances of having a baby with the disorder. There is no evidence that anything done before or during pregnancy increases or decreases the chances of having a kid with Down’s syndrome.
Living with Down’s syndrome
Support is available for children and adults with the disorder to lead a healthy and fulfilling live. Some of these support include:
- Access to good healthcare, including a verity of different specialists
- Organisations like the Down’s syndrome Association, who provide support and information, and can also put you in touch with other families who have a child with the disorder.
- Support for your child’s development, this may include speech and language therapy and physiotherapy.
Many people with Down’s syndrome are able to go to mainstream schools, leave home, have relationships, work and lead largely independent lives.
For more information please speak to you doctor or General Practitioner.