What is Down Syndrome?
Down Syndrome, also called trisomy21, is a genetic condition caused when an unusual cell division results in making an extra copy of chromosome 21 partially or fully, during the cell development of a baby in the womb. This extra chromosome may cause intellectual disability from mild to moderate in the developing babies. This also delays the child’s mental and physical growth and may cause risk of health problems. Down Syndrome is a lifelong condition which does not have a cure for it. If a child is with down syndrome special care is given by doctors in the early stage which helps in their life.
Kids with Down Syndrome Complications
Babies born with down syndrome have distinct flat faces and body features. Some may have some serious health problems in the later stage of life. Some of the common Symptoms are listed below
- Flattened face and small nose with a flat bridge.
- Small head and Short neck.
- Tongue that tends to stick out of the mouth.
- Upward slanting eyelids.
- Skin fold of the upper eyelid that covers the inner corner of the eye.
- Small, rounded ears.
- Wide, small hands with a single crease in the palm and short fingers.
- Small feet with a space between the first and second toes.
- Tiny white spots on the coloured part of the eye called the iris. These white spots are called Brushfield’s spots.
- Short height and poor muscle tone in infancy.
- Joints that are loose and too flexible
Some of the health problems they face includes
- Heart problems
- Hearing and vision problems, including crossed eyes and cataracts
- Gastrointestinal disorders
- Breathing issues, including asthma, and pulmonary hypertension
- Underactive thyroid
- Seizures
- Childhood leukaemia
- Early-onset dementia
Language and speech is also delayed and they have problems memorising or learning new things.
Screening and Diagnostic Tests for Down Syndrome
Diagnosing this condition in infants can be made when they are in the developing stage in the womb of a mother. Certain tests are taken for a pregnant woman to check for these disabilities in the foetus. Two types of tests are conducted on a pregnant woman to get a clear view of Down syndrome.
Test 1- Screening test
The screening test is taken during the first three months of pregnancy. This includes the first trimester combined test and the integrated screening test.
First trimester combined test
This is the most common way of screening test which involves
Blood Test: A blood sample is taken from the pregnant woman on her 10th or 13th week of pregnancy. This blood test measures the levels of pregnancy-associated plasma protein-A (PAPP-A) and the pregnancy hormone known as human chorionic gonadotropin (HCG). Levels of PAPP-A and HCG outside the standard range may indicate a problem with the baby.
Nuchal translucency testing: This test is done between weeks 11–14 of pregnancy. During this test the doctors look at the baby’s neck and check for a fold of tissue behind it. Babies with down syndrome tend to have a fluid that builds up making an extra fold behind the neck called nuchal fold.
To diagnose that the baby has Down syndrome, doctors use both of this screening test to analyse the test results.
Cell-free DNA test: This needs a blood sample of the pregnant mother in their second trimester where the baby’s DNA is circulating in the mother’s blood via the placenta. This can confirm whether the unborn baby is at a higher risk of any chromosomal abnormality like Down syndrome.
Ultrasound: Normal scanning of the foetus when it is more developed, may show the physical features of the babies and doctors can relate it when a foetus is with down syndrome.
The screening test gives 85 to 90% accuracy in screening the babies with down syndrome. If this screening test results happens to be positive, one can make the diagnostic test which gives the confirmation of Down Syndrome.
Test 2: Diagnostic test:
This test is conducted when the screening test is positive and doctors can proceed with the diagnostic test to find out whether the baby is having down syndrome. The test involves
- Chorionic villus sampling (CVS). This can be done during the first trimester where cells from the placenta are taken for diagnosis.
- Amniocentesis. This test is done during the second trimester, by taking the fluid from the amniotic sac surrounding the baby.
- Percutaneous umbilical blood sampling (PUBS). This is also done in the second trimester by using blood removed from the umbilical cord.
These tests are strictly done only after the screening test as they have the risk of miscarriage. In case, if the doctor suspects Down syndrome after a baby is born, a karyotype test (chromosome analysis) can confirm the diagnosis. This test is done by obtaining a blood sample from the new born baby.
Important Things for Parents to Know About Down Syndrome
- Children with Down syndrome may experience developmental delays and these kids are taken care of by early intervention services such as physical therapy, speech therapy, and occupational therapy which is a collaboration of my doctors and therapist. There is a wide range of physical and developmental therapies designed to help people with Down syndrome.
- They must have a routine up check with their doctors to detect any health conditions and treat them beforehand.
- Many children with down syndrome can also attend mainstream schools with the help and support of the parents and doctors.
- Many support groups are organised for the benefits of children with down syndrome. They can get connected with other kids and parents having a social life that improves their quality of life.
- Parents can get tips to handle kids at home from other parents and from support groups will be beneficial.
- The earlier you start treatment is always better for children with Down syndrome. All the listed therapies can help the child to achieve the milestones.
Down syndrome is a condition that can be effectively managed with early intervention, appropriate medical care, and a nurturing environment. Providing emotional support and care help in the child’s development and overall well-being.