Down syndrome is the most prevalent chromosomal disorder. Around 6,000 newborns or roughly one in every 700 are born with Down syndrome. Yet this condition isn't talked about enough. Thus, World Down Syndrome Day is observed to create awareness about the disease. To learn more about it, we talked to Dr Sindhura Munukuntla, Consultant Paediatrician, Yashoda Hospitals, Hyderabad.
What is Down Syndrome
Chromosomes are DNA molecules with genetic material that confirm a baby’s body forms and functions. When a baby is born, it has 46 chromosomes i.e. 23 pairs. A baby, who suffers from Down syndrome, has an extra copy of one of these chromosomes on chromosome 21. In medical terms, having three copies of a chromosome is called trisomy, which is another name for Down syndrome. As a result of this additional copy, which alters the body and brain's growth, a newborn may experience difficulties with their mental and physical development.
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Physical Characteristics of Down Syndrome
According to Dr Munukuntla, the physical characteristics of Down syndrome include the following.
- A rounded face, an arched nose, and almond-shaped, upward-slanted eyes
- Tiny hands, small ankles, a small mouth, and a short neck
- Palm with a straight line across it (palmar crease)
- Joint weakening or poor tone
- Shorter in height
Types of Down Syndrome
There are three main kinds of this syndrome, and since all of their physical characteristics are similar, it is only possible to distinguish between them by chromosomal analysis.
Trisomy 21: The most prevalent form of Down syndrome, which affects 95% of cases, which causes each cell in the body to have three independent copies of chromosome 21 rather than two.
Translocation type: This is a rare kind of Down syndrome, which can be seen in around 3% of patients. It occurs when chromosome 21 has an extra duplicate. It is a translocation or attachment to another chromosome rather than being a distinct chromosome 21.
Mosaic Down syndrome: Generally, mosaic is a term used for a mixture or combination. About 2% of individuals with Down syndrome have mosaic Down syndrome.
Risk Factors of Down Syndrome
Multiple factors contribute to Down syndrome, but the specific cause is unknown. However, the mother's age at conception is one factor that raises the incidence of Down syndrome. A kid with Down syndrome is more likely to be born to a woman over 35. However, because there are so many births among younger women, the majority of newborns with Down syndrome are born to moms under the age of 35, according to Dr Munukuntla.
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Diagnosis of Down Syndrome
You can get Down syndrome diagnosed during pregnancy with the help of screening and diagnostic tests. However, the entire effects of Down syndrome on an infant cannot be fully predicted by screening or diagnostic tests.
A screening test can inform a mother of the likelihood of Down syndrome in her unborn child. Screening procedures are safer for the mother and the unborn child. These tests include ultrasound, quad screen, and triple screen.
While diagnostic techniques, such as chorionic villus sampling, amniocentesis, and foetal umbilical blood sample, can usually determine whether or not a baby will have Down syndrome, they can also be more dangerous for the mother and developing infant.
Other Health Conditions Affecting Kids With Down Syndrome
The following is a list of some of the common health issues that affect kids with Down syndrome:
- Loss of hearing
- Heart conditions
- Eye issues like cataracts, eye-watering, and squinting. Simple eye care and eyeglasses will help with these issues; however, surgery will be necessary for cataracts or squints.
- Compared to other youngsters, ear infections, colds, and sinus infections are more common.
- Poor muscle tone makes it difficult to sit, roll over, walk, or hold one's neck still.
- Mild to moderate cognitive decline and language delay.
- Before engaging in physical activity or sports, it is important to rule out joint dislocation at the neck in children with Down syndrome.
Management of Down Syndrome
Dr Munukuntla states some treatment measures you can follow for Down syndrome.
Visit your paediatrician regularly to treat the medical concerns. Early intervention and therapies including speech, occupational, behaviour, and sensory integration therapy can raise their level of social-emotional functioning. Check for local support groups which can be a very good place to learn about doctors, therapists, and other providers in your community.
Also Read: 5 Lesser-Known Facts About Down Syndrome
Health Checkups For Children With Down Syndrome
- Go for growth checkups every three months during the first year and then annually.
- Go for ear evaluation at least twice in the first year and then every year.
- Go for an eye evaluation every six months in the first year, then every year till the age of five, every two years till the age of 12 and every 3 years from > 12 years.
- Go for a thyroid profile checkup at the initial contact, at six months, and 12 months in the first year and thereafter every year.
- Go for a heart checkup at the initial contact and then as per the need.
- Sleep studies should be taken by all for four years.
- Go for a complete blood count after six months in the first year and then once annually till 12 years of age.
Tips for Parents With a Child With Down Syndrome
According to Dr Munukuntla, if you have a child with Down syndrome, there is nothing to be ashamed of or feel guilty about. These kids are capable of being educated, trained, and trusted as workers. They are extremely sociable, likeable, and friendly. They can receive training for self-employment, and with modest assistance, they can live independently.
They should be raised in a happy, healthy home where both parents and relatives are present if they are to develop to their full potential. Treat your child as you would other members of your family. As much as you can, engage in conversation and interaction with your child's surroundings.
Happy healthy parents make happy healthy children, and more happy parents make happy children with Down syndrome since they have an extra chromosome.
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