Down Syndrome Day – Things Parents Need To Know

World Down Syndrome Day is observed every year on 21 March by the World Health Organization (WHO) to raise awareness of the condition and encourage early intervention programmes. Down syndrome is a genetic disorder that occurs when an abnormal cell division leads to the generation of extra genetic material from a chromosome. Normally, a person has 46 chromosomes, but people with Down syndrome have an extra copy of chromosome number 21. This extra chromosome causes a number of developmental and cognitive challenges among patients with Down syndrome.

Also known as trisomy 21, this disorder is one of the most prevalent genetic birth diseases in children, affecting approximately 1 in every 830 live births. About 1.3 lakh babies are born with the condition every year in India. Despite these worrying statistics, due to lack of information and discussion, many children suffer from the condition.

What are the factors that can cause Down syndrome?

While it is known that an extra chromosome 21 can cause Down syndrome, the exact cause of this chromosomal abnormality remains unknown. A woman’s age at delivery is another factor that often increases the risk of having a baby with Down syndrome. Women over the age of 35 are found to have a higher risk of having a child with Down syndrome than women in the younger age group.

How many types of down syndrome are there?

To date, three types of Down syndrome have been identified. This includes:

1. Trisomy 21: This is a variant of Down syndrome in which there are three different copies of chromosome 21 instead of two.
2. Translocation Down Syndrome: This type of Down syndrome occurs when an extra chromosome 21 attaches to a different chromosome.
3. Mosaic Down Syndrome: It is a mixture of (two) some cells with a normal set of chromosome 21 and some cells with three copies of chromosome 21.

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What are the different types of tests available to detect Down syndrome?

With advances in technology and laboratory testing, Down syndrome can be detected in 90% of cases. Women in the early stages of their pregnancy can undergo the following tests to find out if their baby is going to be born with Down syndrome:

1. Fetal ultrasound to look for clinical signs in the fetus and blood markers to determine the risk of carrying a baby with trisomy 21.
2. genetic testing – It is one of the most effective ways to predict the future of the child and understand whether they are suffering from any other congenital disorder. Women who have had multiple miscarriages can have genetic testing done regularly to monitor their baby’s development.
3. screening tests – Couples who wish to marry or conceive may undergo screening tests to check whether their child is at risk of any inherited or genetic disease.

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What precautions can parents take after conception?

After a baby is born, parents should do some evaluations to help them get a better health outcome for the baby. Below are some tips that parents can follow to help their children:

1. Heart Defects (50%): There is a 50% risk of a baby being born with a structural heart defect. Therefore, an echo should be done regardless of the fetal scan to rule out any abnormalities.
2. Gastrointestinal problems: These are extremely common issues in newborns. Many newborns often have difficulty digesting food and often require a tube to feed them. If your child is constipated or rarely has a blockage (atresia) in the bowel, he or she will need a surgeon’s help to remove the blockage.
3. Deafness: Many children are born with hearing loss, which requires detection and action to improve their hearing and speech development. A child should undergo BERA to analyze his hearing for OAE before he is discharged from the hospital and by 3 months of age. The child needs to be followed closely if there are any unusual symptoms in the child.
4. Hypothyroidism: Children are at a higher risk of hypothyroidism and therefore it is extremely important to have their thyroid function checked.
   Other problems: Babies can have problems like apnea (temporary cessation of breathing), glaucoma, and thickened blood (polycythemia), which should be checked and addressed accordingly. It is recommended that a child should have a BERA (hearing test) and visual assessment by the age of three months.

In addition to these tests, a child should be assessed for developmental milestones including social communication skills, weight, height, sleep, and signs of snoring/sleep apnea.

Children with Down syndrome are also at risk of atlantoaxial subluxation, meaning instability between the first and second cervical bones, so they need to be monitored after age 3, and should avoid trampoline use. As they are growing, they are prone to obesity, sleep disorders, and celiac disease, which should be assessed by asking parents about symptoms of these diseases and an annual thyroid function test to help them stay healthy. Relevant tests such as tests should also be carried out. weight.

How can parents help their children lead a normal life?

In short, children with Down syndrome can go through a normal course of life with minimal problems and with regular monitoring and follow-up. Parents can use this basic checklist to help their child avoid any complications:

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1. Cardiac: Echo and cardiac review at birth and afterwards to monitor your baby’s heart function
2. Shortness of breath, snoring and frequent ear infections: You should regularly monitor these issues and reach out to a doctor if there is any concerning factor.
3. Development: Parents should keep an eye out for motor delays and social skill development and keep track of their child’s milestones. Regular follow-up with the doctor is strongly recommended to track the child’s progress.
4. Intellectual Disability and Social Development: This is a moderate risk that needs to be monitored at each visit to the pediatrician.
5. blood test: To check thyroid function at least annually, more often if necessary. Because children with Down syndrome have a higher risk of blood disorders such as leukemia, blood tests are important.
6. Gut issues: Any intestinal problems, celiac screening and follow up with a pediatrician or gastroenterologist will help in initial management.

With these steps, parents of children with Down syndrome can become more informed and empowered to lead normal lives for their children.

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