World Down Syndrome Day 2018 – causes, symptoms, diagnosis, prevention and care

Down syndrome has no cure and prevention is only possible through prenatal screenings and diagnosis. Know more about this developmental disorder.

World Down Syndrome Day is on March 21.

We humans like to receive all things in excess. But excess is not always good, especially, when it comes to the chromosomal count in the body. An excess here can cause adverse effects leading to both mental and physical developmental delays.

Down syndrome is a condition wherein a person is born with some extra genetic material that leads to slow mental maturation and delayed or impaired physical development. Down syndrome is also known as Trisomy 21.

What causes Down syndrome?

Down syndrome is the outcome of a genetic abnormality that happens during the conception. There are no ways one can prevent the occurrence of Down syndrome, but it can be detected before a child is born.

Basics first - a baby receives genetic material from both the parents in form of chromosomes. There are 46 chromosomes that are inherited by the baby - 23 from the mother and 23 from the father.

In case of Down syndrome the baby receives an extra chromosome called chromosome 21 which accounts to a total of 47 chromosomes responsible for the genetic make-up of the baby. This chromosome is the reason for the developmental delays and the typical physical features associated with Down syndrome.

Though there are no known causes to ascertain the reason for such genetic defect and prevent the same, there are certain markers that can be a probable cause for the syndrome. Scientists are of the opinion that women aged 35 and beyond have a significant higher risk of giving birth to a baby with Down syndrome. At 30 a women has about a 1 in 1,000 chance of conceiving a child with Down syndrome. The probability increases to 1 in 400 when 35 and 1 in 100 when 40. Know is your baby at a risk of getting Down syndrome?

How is a child with Down syndrome different from a normal child?

A child born with Down syndrome has certain remarkable physical features and a slower developmental growth rate. The physical features and medical problems associated with Down syndrome can vary widely from child to child. Some of the common physical features that an affected child can suffer from are:

• Flat facial features
• Upward slanting of eyes
• Small ears
• A protruding tongue

Other medical conditions associated with Down syndrome are:

Hypotonia: A condition associated with low muscle tone and a characteristic of children suffering from Down syndrome. Sometimes this condition gets better with each passing year. This condition is typically the reason behind achieving delayed developmental milestones in babies. Children with Down syndrome often learn to sit, crawl and walk later than other kids their age.

Developmental delay: In toddlers Down syndrome can lead to delay in speech, digestive issues, learning motor skills, feeding self, hand-eye co-ordination etc. The condition also affects a child s ability to learn. The syndrome often leads to mild to moderate intellectual impairment in most. They also reach the simple developmental goals at a slow pace.

Congenital heart disease: Though many children affected with Down syndrome may not have major health problems, some of them could suffer from congenital heart disease. They are also at a risk of developing pulmonary hypertension leading to permanent damage in the lungs.

Hearing and vision problem: Due to the structural problems suffered during the developmental phase in the womb there can be fluid build up in the ears that can lead to hearing problem. Also children with Down syndrome usually have a problem of cross-eyed, near or farsightedness and an increased risk of cataracts. It is important to get checked by a otolaryngologist, a specialist in ear, nose and throat functions, to correct any problems that could affect the language and learning skills.

Other medical conditions: Children with Down syndrome also suffer from a host of other medical conditions like thyroid problems, intestinal abnormalities, seizure disorders, respiratory problems, obesity, increased susceptibility to infection, and a higher risk of childhood leukemia too.

How can Down syndrome be detected?

Since the condition cannot be cured it is necessary to detect the same before the child is born, right during pregnancy. Several prenatal tests and screening tests are done to detect the condition in the unborn child.

The screening tests include:

• Nuchal translucency scan or NT scan: This is done between 11 and 14 weeks of pregnancy, using an ultrasound to measure the fluid present in the folds of tissue behind a developing baby's neck. Usually babies with a genetic defect like Down syndrome tend to accumulate fluid behind their neck. The mother s age along with the NT scan results and a blood test gives an idea about the probability of a baby being born with the condition. Know why an NT scan is important during pregnancy?
• The triple marker or quadruple marker test: Done usually between the 15 and 18 week of pregnancy, this is a blood test done to check certain markers in the blood that can point to any chromosomal abnormality.
• Specialized screening: The results of the first trimester screening along with the blood tests of the second trimester gives a more accurate reading and probability of the baby suffering from Down syndrome.
• A detailed ultrasound. A detailed ultrasound or an anomaly scan done between the 18 to 20 weeks in conjunction with the blood tests checks the fetus for any kind of the physical traits abnormalities associated with Down syndrome.

The other invasive diagnostic tests include:

• Chorionic villus sampling (CVS). This is an invasive procedure that involves taking a sample from the placenta through a needle either inserted through the abdomen or the cervix. Though the results are more accurate with this kind of test the disadvantage is that it carries a slightly greater risk of miscarriage.
• Amniocentesis: Another invasive test that is done between the 15 and 20 weeks of pregnancy, involves removal of a small amount of amniotic fluid through a needle inserted in the abdomen. The cells are then analyzed for the presence of chromosomal abnormalities. Amniocentesis also carries a risk of preterm labour and miscarriage.

Often such invasive tests are not performed in every diagnostic lab. Special clinics with special permission can perform these invasive tests. Many hospitals and clinics also have banned these tests due to the risks attached. Also know about some new tests on the horizon for Down syndrome.

Even after such detailed analysis and tests the condition is not diagnosed before birth, a blood test might be done after the baby is born to check for the syndrome. This is only done if the doctor suspects that the baby is born with the condition based on the physical features of the infant.

Dealing with Down syndrome

If you have a child who is suffering from the condition first breathe deep and gather all your courage and might to face the world with dignity. Overcome all your fear and guilt as you could do nothing better from what you have done till now for your baby. The attitude you follow and reflect is what your baby will pick up despite the developmental barriers. Here is what you can do to help your baby.

Get help fast: Join a support group for parents and be an active participant. This will help you learn more about handling the condition and dealing with its various challenges.

Be regular with follow up treatment: If your baby is suffering from any other ailment remember that regular follow up and treatment is necessary to help the child lead a better life.

Initiate early learning: Many experts believe that early intervention can help a child with Down syndrome cope with the problems of physical impairment, speech and other occupational problems and accelerate growth. Also read how meaningful activities can help children suffering from Down syndrome.

Provide a friendly environment: Send your child to schools specialized for children with developmental disorders. Some schools also allow children with the condition to mix with other children to help and make them learn life skills in a better manner. Where to send your baby for a education can be a tough choice as some children have more specialized needs than the others. Nevertheless weigh and explore all your options. Talk to a developmental pediatrician for help.

Many kids with Down syndrome go from school to college and also hold jobs for their livelihood. Be patient and affectionate towards your child always, that will help your baby to at least get into the mode of a semi-independent living later in life.