Children with Down Syndrome do not grow as much as their peers, their facial features are flat, with upward slanting eyes, a small head and a short neck. However, physical appearance does not indicate the extent of cognitive impairment.

In India 23,000 to 29,000 children are born each year with Down Syndrome. This is quite a significantly larger number, but awareness of the condition and access to proper treatment and care is highly inadequate.

Down Syndrome is a genetic disorder that occurs due to the complete or partial replication of chromosome 21 due to abnormal cell division. This seemingly small defect results in a number of physical and emotional developmental issues in the individual. The severity of the disability due to Down Syndrome varies from one person to another, and therefore treatment will also vary.

Screening for Down Syndrome

Genetic Screening is an option today before and during pregnancy. If a person has a family history of medical conditions caused by a genetic mutation, getting screened before conception can help identify his/her risk of passing on the disease to their baby. If the screening test comes back positive, the couple needs to be briefed on their chances of having a child with Down Syndrome and any other options they have.

During pregnancy between the 10th and 14th week, there is a screening test to check for Down’s Syndrome. A nuchal translucency ultrasound is performed to determine the fluid at the back of the baby’s neck. This helps calculate the baby’s chances of having a genetic/ chromosomal anomaly. If the doctor suspects a possibility of Down Syndrome the mother may have to undergo Amniocentesis, a test in which the amniotic fluid is tested for chromosomal changes. If there is a chance the baby may have Down Syndrome, the parents will be informed, and the doctors will advise on further action.

Who needs Genetic Screening before conception?

• – A couple who already has a child with a genetic disorder.
• – Individuals with a family history of genetic/congenital disease
• – Individuals who are blood relatives and entered into consanguineous marriage
• – A woman who has had two spontaneous abortions
• – A woman aged 35 and above, and has not had a child
• – A woman who had a stillborn child with a physical appearance indicative of a genetic anomaly

Treating Down Syndrome

Babies with Down Syndrome may be of a healthy size and birth weight, however as they grow symptoms are more evident in terms of developmental delays and physical appearance. Children with Down Syndrome do not grow as much as their peers, their facial features are flat, with a upward-slanting eyes, a small head and a short neck. However, physical appearance does not indicate the extent of cognitive impairment.

Treatment options for Down Syndrome involve several different styles of therapy, depending on the severity of the condition. It is important to start treatment when the child is very young. This is termed as Early Intervention and includes interaction between the child and a team of professionals equipped to help children with Down Syndrome and their families cope with the condition through specialized programs and resources. As the child grows, the treatment intensifies, focusing on problem areas through methods that encourage the child without pressurising him/her.

Therapy Options for children with Down Syndrome are:

• Physical Therapy: Children with Down Syndrome often have weakened muscles and impaired motor skills. Physical Therapy helps the child improve motor skills, muscle tone, body posture and balance through a series of exercises and activities. Starting physical therapy at a very young age and continuing it lifelong helps the individual stay active, fit and strong.
• Speech Therapy: In most individuals with Down Syndrome, language and communication skills are rather underdeveloped. Being unable to express themselves correctly is often a cause of great frustration in children with Down Syndrome or any cognitive impairment. Speech Therapy helps improve their communication skills. Children with speech delays are thought to use sign language and pictures to communicate until she/he learns to speak. Speech Therapy is most often a very long process and needs to be nurtured by the family as well.
• Occupational Therapy: The goal of occupational therapy is to help the child do daily activities on their own starting with self-care skills like eating on one’s own, getting dressed, bathing, etc. The child is also taught how to do other activities such as holding a pencil, writing, and using gadgets such as a laptop or mobile phone. In some cases, the child will be provided with special tools to help them perform these everyday tasks better like a special type of pencil that offers a better grip or a style of clothing that is easy for them to put on. As the child grows, tasks dealt with in Occupational Therapy change. Teenagers and older individuals will be trained to perform tasks that will help them get a job. In essence Occupational Therapy
• Behavioural Therapy: Often children with Down Syndrome find it hard to communicate their feelings, causing them to act out or get aggressive. Behavioural Therapy provides them with tools that help them react and respond better. It helps them handle their emotions better. The Behavioural Therapist identifies situations that trigger negative responses and outbursts, and then develop strategies to avoid such a reaction.
• Music Therapy: This is a relatively new therapy option but has proved to have a positive impact on those with Down Syndrome. Be it learning a musical instrument or taking up singing lessons, music classes have a calming impact on the child. Going to a class and interacting with other children improve social skills. Learning rhythm helps the child understand concepts of movement and timing. Learning lyrics or notes, and playing them repeatedly enhances the child’s memory.

Besides therapy individuals with Down Syndrome may also require special medication to cope with health issues that are unfortunate by-products of the condition. They need proper attention and care, and a lot of encouragement to forget their disability and live a happy life.

Reviewed By:

DR.APARNA GILBERT

SENIOR REGISTRAR – PAEDIATRICS

MBBS, MD ( PAEDIATRICS)