Down syndrome is a congenital disorder that causes intellectual disability and physical abnormalities like a flat face, small head and ear, a short neck and poor muscle activity.
This disorder is caused by a variance in the number of chromosomes. Normally, a person has 46 chromosomes. People with Down syndrome have been found to have 47 chromosomes. This is true in most cases but in very few cases, other chromosome problems too cause Down syndrome.
- Women getting pregnant after the age of 35.
- If one of the parents has a sibling with a Down syndrome.
- If the parents have an older child with Down syndrome.
Screening for Down syndrome
There are tests to screen foetal health during pregnancy. These include an ultrasound and blood tests in the first trimester, a quadruple test marker in the second trimester, amniocentesis, chronic villus sampling and percutaneous umbilical blood sampling.
As this condition cannot be reversed, people with Down syndrome can be helped with interventions, support and proper care so they can lead better lives. There is no focussed or single treatment for Down syndrome.
It is based on a case to case basis, depending on his/her physical and intellectual development and needs, so that the treatment only leads to a better lifestyle. Initial treatment for Down syndrome is about ensuring that the child has regular medical check-ups.
Kids with Down syndrome are likely to develop heart conditions or digestive issues and this need to be treated immediately. Other medical conditions that may affect them are poor vision, hearing loss, leukaemia, chronic constipation and obesity.
People with Down syndrome need a holistic approach for their treatment and they need a full team of caretakers who can give support.
These include experts like personal physician, speech therapist, special educators and social workers and of course the parents.
There is a wide range of therapies available that help patient’s development, independence and productivity. These include help with their sensory skills, motor skills, language skills, physical skills and self-help skills. There are special schools that help them integrate into the mainstream of society.
There are plenty of activities and exercises to help people with Down syndrome build better motor skills, increase nerve and muscle strength and improve physical abilities.
Physical therapy plays an important role in a child’s development. It can be done with the help of a therapist or by trained parents.
This therapy helps children with Down syndrome in improving their communication skills. If these children do not go through the speech therapy, they may not speak for a long time or much later than normal children of the same age.
As these children grow up, they feel the need to socialise and communicate. In case of a speech problem, a therapist can help the children communicate through sign language. These activities help in conversation, pronunciation, reading and comprehension.
This therapy is very crucial as it supports the children find their vocation in life. They are encouraged to become independent and discover skills and abilities to complete their routine tasks. This also supports children with Down syndrome become independent in basic activities like eating, bathing, dressing, reading and writing.
As the children progress in the learning programme, they attempt to identify their career skills and find jobs that match their abilities.
Often, children with Down syndrome display emotions of frustration and feel low because of their inability to communicate with family. This may result in aggressive behaviour or depression which needs to be addressed. Then, there are hormonal changes during their teenage years that can cause behavioural issues. This requires serious and focussed intervention by therapists to help the children and their families.
Parents of children who have children with Down syndrome have to be educated on the need to interact with other parents whose kids have the same disorder.
They also have to know that there are several ways to make the child independent and self-sufficient, as the life expectancy of people with Down syndrome has increased to 50 now.
This necessitates them to take all possible support systems available and not alienate the child from others or society. There are special educators, medical practitioners and social workers who can help children with Down syndrome lead a respectable and independent life.
The author is a Consultant Paediatrics at Columbia Asia Hospital, Hebbal