Down syndrome
disability; intellectual; chromosomal; disorder; Down; syndrome; Trisomy; 21; genetic; chromosome; gene; Down's; Downs; handicap; mental; retardation; global; developmental; delay; speech; pathology; therapy; intellectual ;
Contents
Down syndrome is named after Dr John Langdon Down who first identified the syndrome in 1866. Down syndrome is caused by an extra copy of chromosome 21 inside each of the body's cells. The extra chromosome causes certain physical characteristics (appearance) and affects intellectual development (thinking skills).
Down syndrome occurs in all races and cultures. Approximately 1 in every 800 babies are born with Down syndrome.
From birth, children with Down syndrome will need special services such as physiotherapy and speech pathology, to help their development and learning.
Children with Down syndrome are slower with learning, but they go on learning for the whole of their life.
Many children and adults with Down syndrome also have medical problems. Heart problems are common and if needed they can usually be corrected by surgery. Hearing and eye problems are also common. Regular checks will be necessary.
What is Down syndrome?
Down syndrome is a genetic condition. This means that medical specialists can tell that children have Down syndrome by checking their chromosomes (gene clusters).
- Each person has many millions of genes. Genes are found in our body cells and carry instructions for development and functioning. They are grouped together in clusters called chromosomes.
- Most people have 46 chromosomes in every cell of their body, but people with Down syndrome have 47 chromosomes.
- The extra chromosome means the baby develops differently during pregnancy.
- These differences include the way the baby looks, health problems and and their learning (a slower development of thinking and learning skills).
- Every child with Down syndrome is different. Children with Down syndrome do look alike, but they also look like their parents and family.
Causes of Down syndrome
- The exact cause or causes of Down syndrome are not known.
- Down syndrome is a chromosomal accident. It is not caused by anything the parents may have done before or during pregnancy.
- The syndrome can occur in any family.
- Babies with Down syndrome can be born to mothers of any age, but it occurs more often if the mother is older.
- Just because you have had a baby with Down syndrome does not mean you will have another baby with Down syndrome, however the risk is greater.
- There are tests that can be done during pregnancy that can tell you if you are having a baby with Down syndrome (blood tests, ultrasound tests and tests of the fluid around your developing baby). For more information have a look at the topic Screening tests for Down syndrome.
Characteristics of the syndrome
Certain physical appearances are associated with Down syndrome. These include:
- slanting eyes
- a wide space between the eyes
- small, flatter nose
- short fingers, hands, toes and feet
- short arms and legs.
Approximately 98% of people with Down syndrome are slower with learning. Most children will have a moderate intellectual disability.
Congenital heart defects (defects that develop before birth) are found in about 50 percent of these children. In some instances, corrective heart surgery may be necessary.
Some other medical problems occur often in children with Down syndrome, including:
- vision problems
- middle ear infections (in particular glue ear)
- nasal congestion.
As people with Down syndrome often have a number of medical problems, it is important to have the following checks:
- Physical examination - at birth, six weeks, then annually or more often if needed
- Heart examination - echocardiogram at birth (your paediatrician will arrange this)
- Thyroid function - at birth, six months, one year, then annually
- Vision test - at birth, then annually
- Hearing test - at birth, then annually
- Dental check - annually from age 2 years
Decreased (low) muscle tone and loose ligaments usually slow a child's motor development (movement skills). Physiotherapy is often useful.
Some children with Down syndrome may have an unstable joint in their neck which can affect their walking, cause neck pain or stiffness. Special x-rays can show this.
How is Down syndrome diagnosed?
- Doctors usually suspect a baby may have Down syndrome because of the appearance of the baby.
- It is diagnosed after birth by a blood test to look at the chromosomes.
- Tests for Down syndrome may be done during pregnancy. For more information have a look at the topic Screening tests for Down syndrome
More information is available from doctors and local Down syndrome associations.
What you can do
When a baby with Down syndrome is born, parents can feel shocked, angry and sad. Many parents find it useful to join support groups that provide both information and understanding. These groups often support other family members too, such as brothers, sisters and grandparents. Many families say that becoming involved in educational activities through playgroups or early intervention programs is helpful, also.
Some things you may want to consider:
- Most children with Down syndrome are healthy and active.
- Parents can support their child with Down syndrome by providing a caring and safe environment.
- It is important to give the child with Down syndrome opportunities like other children in the family.
- Children with Down syndrome will benefit from extra help in their early years, such as speech pathology, physiotherapy and the services provided in early intervention programs.
Children with Down syndrome benefit from lots of stimulation through many types of experiences with different people, places, toys, sounds, feelings, etc. These experiences help your child's development.
- Talk to your child as much as possible. A child needs to hear your voice even though she may not understand exactly what you are saying.
- Create an environment that suits your child's needs and abilities. Encourage movement and exploration.
- Encourage your child to play with toys of different sizes and textures.
- Accept that your child will develop at her own speed and in her own way.
- Understand that you may have to repeat an activity many times before your child can do it well.
- Say your child's name often, especially when you are giving praise.
You can take your child to early intervention programs for children with disabilities. Some programs are offered from birth.
Preschool and school
- Early intervention programs give you the chance to learn about the special needs of your child. They will also show you different ways to help your child to learn.
- Children benefit from mixing with other children. As well as going to early intervention programs, your child can go to childcare and preschool.
- Childcare centres and preschools are usually given special help when a child with Down syndrome attends.
- In Australia, most children with Down syndrome can go to their local school. Usually, they will receive support from special education support staff.
- Some children go to special classes and special schools.
- Children with Down syndrome can join in many of the lessons at school. They will need extra help to learn to read and write.
- It is important to concentrate on developing listening and talking skills. Speech is often slow to develop in children with Down syndrome. Therefore, the use of hand gestures (signs), short sentences, clear instructions and visual cues is a great help to these children.
- People with Down syndrome are slower to learn many things, but like everyone else they go on learning for all of their lives.
When they finish school, many people with Down syndrome learn to live independently. Most work in either supported or open employment.
Resources
South Australia
There are a number of agencies within South Australia that provide programs and assistance for young people and adults with Down syndrome, as well as for their families - see the topic Down syndrome - Resources.
References
Down Syndrome Research Foundation, 'Down Syndrome Issues & Interventions', 2000.
Hassold, Terry J & Patterson, David, 'Down Syndrome: A Promising Future Together', Wiley-Liss Inc, New York, 1999.
Lott, Ira T & McCoy, Ernest E 'Down Syndrome - Advances in Medical Care', Wiley-Liss Inc, New York, 1993.
Lorenz, Stephanie 'Children with Down's Syndrome - A guide for Teachers, etc.', David Fulton, London, 1996.
Rondal, Jean, Perera, Juan & Nadel, Lynn 'Down Syndrome - A Review of Current Knowledge', MacLennan & Petty, Sydney, 1996.
Stafford, Brian & Gunn, Pat 'New Approaches to Down Syndrome', Cassell, Sydney, 1996.
Tien, Barbara, 'Effective Teaching Strategies for Successful Inclusion - A Focus on Down Syndrome', The Prep Program, 1999.
The information on this site should not be used as an alternative to professional care. If you have a particular problem, see a doctor, or ring the Parent Helpline on 1300 364 100 (local call cost from anywhere in South Australia).
This topic may use 'he' and 'she' in turn - please change to suit your
child's sex.