Columbia Asia Hospital provides a insight into the disease called ‘Down Syndrome’

Dr Sharil Hegde, Consultant Paediatrics, Columbia Asia Hospital Hebbal

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. Though the disorder level varies for different people, the condition lasts a lifetime. The impact of the disorder is seen in behavioural and physical issues like poor attention span, slow learning ability and impulsive behaviour.

Cause:

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. The result of having an extra or an abnormal chromosome affects brain and body development.

Risk factors:

· Women getting pregnant after 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:

These days, 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.

Treatment:

As this condition cannot be reversed, people with Down Syndrome can only helped with interventions, support and proper care so they can lead better lives. Therefore there is no focussed or single treatment for Down Syndrome. It is based on a case to case basis depending on his or 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 checkups, so that early treatment is given for health problems.

Children with Down Syndrome are likely to develop heart conditions or digestive issues and these need to be treated immediately. Other medical conditions that may affect them are poor vision, hearing loss, leukemia, 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. Studies have shown that early intervention gives good results for children with Down syndrome.

Therapies available: There is a wide range of therapies available that help Down Syndrome patients’ development, independence and productivity. These include help with their sensory skills, motor skills, language skills, physical skills and self-help skills. Different therapies and experts can help in various ways. They have special schools that help them integrate into the mainstream of society.

Physical therapy

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. This can be done with the help of a therapist or by trained parents.

Speech therapy:

This therapy helps children with Down syndrome in improving their communication skills and therefore be more social. 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.

Occupational therapy:

This therapy is very crucial as it supports the children find their vocation in life. They are even 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 depression because of their inability to communicate with family. This may result in aggressive behavior or depression which needs to be addressed. Then there are hormonal changes during their teenage years that can cause behavioral issues. This requires serious and focussed intervention by therapists to help the children and their families.

Parental role:

Parents of children who have children with Down Syndrome have to be educated on the need to interact with other parents whose children have the same disorder. They also have to know that there are several ways to make the child independent and self-sufficient and the life expectancy of such children has increased to 50 now. This necessitates them to take all possible support systems available and not alienate the children 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.