About Down Syndrome
Down syndrome is a genetic condition that occurs by chance at conception. It is named after Dr. John Langdon Down, who in England in 1862 was the first person to accurately describe the characteristics. Down syndrome is caused by the presence of an extra chromosome. Instead of the usual 46 chromosomes, a person with Down syndrome has a 47th chromosome. This occurs on the 21st chromosomal pair, where a person with Down syndrome has 3 chromosomes instead of 2.
There are three types of Down syndrome:
- Trisomy 21 (95%) extra chromosome on 21st chromosome pair in every cell
- Translocation (3-5%) extra chromosome 21 is attached to another chromosome in every cell
- Mosaic (1-2 %) mixture of cells, some with an extra chromosome 21 and some normal cells.
The estimated incidence of Down syndrome is 1 in 800 births. It is estimated therefore that 4 children with Down Syndrome are born in South Africa each and every day.
What are the physical features of a child with Down Syndrome?
Children may display one or more of the typical physical features associated with Down syndrome. These features include a wide flat face with slanted eyes, reduced muscle tone leading to floppiness and delayed crawling, smaller limbs, short fingers and a wider gap between the first and second toe.
Each child does have his/her own personality and many family features and characteristics. He/she will be more like his/her family than like any other person with Down syndrome.
Generally speaking, children with Down syndrome develop more slowly than their peers, arriving at each stage of development slightly later and staying there for longer. The developmental gap between children with Down syndrome and their peers widens with age.
Research has repeatedly indicated that stimulation during early developmental stages improves a child’s chances of developing to his or her fullest potential. Continuing education, positive public attitudes, and a stimulating home environment have also been found to promote the child’s overall development. Children with Down syndrome are likely to make the most rapid progress when they are fully socially included and accepted, benefiting from age appropriate role models and from the benefits of feeling that they are part of the ordinary community.
Due to a greater awareness by parents and teachers alike, each year in Europe, Australia and America, more children with Down syndrome are entering community playgroups, pre-schools, or local schools and joining in social activities with mainstream siblings and friends. Whereas the needs of the remaining children with Down syndrome with significant health and behaviour problems, or profoundly delayed development, will best be met in special segregated settings.
As parents we must be concerned with the wellbeing of our child with Down syndrome. We have so many things to keep track of i.e. medical needs, motor and communication skills, social and behavioural skills, early intervention and educational needs.
Children born with Down syndrome have an increased risk of congenital heart condition and low thyroid gland function. Cognitive development is generally delayed though there is a wide spectrum of intellectual ability, which is greatly improved with early intervention.
We have to create our “own” team that we can rely on to provide professional assistance throughout the growth and development of our children. Different therapies can be used in early intervention programs and throughout a person´s life to promote the greatest possible independence and development.
First contact is an outreach programme run by DSIEF whereby new parents of children with Down syndome are offered support and advice free of charge through leaflets at hospitals and clinics, by telephone and house visits.
The first years of life are very challenging in a child’s development. During this time they achieve the basic physical, social and self-help skills, they develop cognitive and early communication skills that lay the foundation for the future. Children with Down syndrome typically face delays in certain areas of development, therefore it is recommended that straight after the birth, early intervention and stimulation concepts are introduced at home … the sooner you start, the better.