Dr. Bhushan Ambadkar
Psychiatrist
Down syndrome is a genetic disorder caused wherein the cells of a person contain an extra chromosome, namely, chromosome 21. Each chromosome is packed with hundreds to thousands of genes, which in turn is made up of deoxyribose nucleic acid (DNA). Genes contain information that determines the growth, development and distinctive traits in each individual. Ideally, every cell contains 23 pairs of chromosomes. However, people born with Down syndrome contain an extra copy of chromosome 21 or extra genetic material, which causes delays in the physical and mental development of the child.
Down syndrome is not a preventable disease; however, it can be detected before birth. Generally, people with Down syndrome have distinctive physical features and are at an increased risk of a few medical conditions. However, the difficulties faced by one person vary widely from another affected person. Although some people with Down syndrome need constant medical attention throughout their lives, there are many who lead healthy lives.
Three types of Down syndrome exist, namely:
Trisomy 21: This type of Down syndrome occurs due to the abnormal presence of an extra copy of chromosome 21. It accounts for 95% of the total cases.
Mosaicism: This type of Down syndrome occurs due to the presence of an extra copy of chromosome 21 in a few cells, while other cells contain the usual 23 pair of chromosomes. It accounts for about 1% of the total cases.
Translocation: The cells of people with this type of Down syndrome have an additional copy of chromosome 21 attached to another chromosome. The extra chromosome may be partial or complete. It is reported in 4% of the cases. It is the only type of Down syndrome that can be inherited from a parent.
The symptoms usually differ from one affected person to another. However, people with this disorder usually share a similar physical appearance. Some common physical signs of Down syndrome are listed below:
Due to developmental delay, children with Down syndrome take a longer time than other children to learn to sit, stand and walk. The problems associated with thinking, learning, and behaviour faced by people with Down syndrome are discussed below:
Causes
The presence of an extra copy of chromosome 21 is the only known cause of Down syndrome. However, the factors responsible for the presence of the extra chromosome in affected people are still unknown.
Risk Factors
One of the factors considered as a risk for having a child with Down syndrome is the mother’s age at the time of becoming pregnant. It is found that the chances of a child being affected with Down syndrome are higher in women who become pregnant after the age of 35 years. However, since most mothers give birth before the age of 35, higher cases of Down syndrome are seen in children born to younger women.
Down syndrome cannot be prevented; however, parents can take measures to reduce the risk of the disorder in children. Since the age of the women at the time of pregnancy is a potential risk factor, women can reduce the risk by planning the pregnancy before the age of 35 years.
Women who are at risk of having a child with Down’s syndrome are usually referred to a genetic counsellor. They will explain the risk of future pregnancies and discuss the various diagnostic tests that are available to detect the disorder.
Screening tests are performed during pregnancy to identify whether the child is at risk of Down syndrome. In a few cases, the child turns out to be completely healthy even though the mother tests positive during screening. Screening tests performed during pregnancy include:
Nuchal translucency testing: This test involves the use of ultrasound during the first trimester to detect fluids in the back of the child’s neck inside the womb. It is performed along with tests on the mother’s blood.
Triple/quadruple screen: This test measures certain markers in the mother’s blood during the second trimester.
Integrated screen: It involves all the above-mentioned tests performed during the first and second trimester.
Genetic ultrasound: It uses ultrasound to detect physical abnormalities in the child during 18-20 weeks of pregnancy. It is performed along with blood tests.
Cell-free DNA: This test studies the DNA of the child present in the mother’s blood. It is usually performed in the first trimester.
When the screening tests identify the risk of Down syndrome in the child during pregnancy, the doctors may recommend diagnostic tests to confirm the risk. The diagnostic tests performed include:
Percutaneous umbilical cord sampling (cordocentesis): This test provides the most accurate result. In this test, a sample of child’s blood present in the umbilical test is taken for testing during 18 to 22 weeks of pregnancy.
Chorionic villus sampling (CVS): This test is performed from 14 to 18 weeks of pregnancy. In this test, the sample is taken from the part of the womb called the placenta.
Amniocentesis: This test is performed from 15 to 20 weeks of pregnancy. In this test, the sample of the fluid inside the womb is taken for testing.
However, the diagnostic tests are associated with a slight risk of miscarriage. Hence, these tests are performed only in women who are at high risk of having a child with genetic disorders.
The doctors look for physical signs of Down syndrome in the child after birth. A karyotype test may be performed to confirm the diagnosis. In the test, the doctor looks at the blood sample of the child under a microscope to look for the presence of an extra copy of chromosome 21 in the cells.
Although many people born with Down syndrome have no major birth defects, some might have at least one birth defect or develop a medical problem later in life. Many children with the disorder may also have mild to moderate intellectual disability. Hence, there is no standard treatment for Down syndrome. The treatment required varies from one affected person to another depending on the medical condition, which is usually managed using medications or other means. Treatment for medical problems, especially birth defects, is initiated since birth.
A team of health professional usually looks after the child. The doctor may recommend specialised programs and resources during the early year of the child’s life to help the affected child as well as the parents. Various medical specialists such as cardiologist, geneticist, eye specialists, endocrinologists, hearing specialists, etc. may look after the child depending on the medical condition of the child.
Subsequently, various therapies may be recommended to help the child lead a healthy and productive life. Therapies that may be recommended include:
Speech therapy: To improve language and communication skills.
Physical therapy: To improve balance and posture, increase strength and build motor skills. This is recommended, especially in children with poor muscle tone.
Behavioural therapy: To help the child cope with complicated behaviours and feelings.
Occupational therapy: To help the child learn the skills required for everyday tasks.
There are many assistive devices available currently to help people with Down syndrome function easily and effectively. Few such assistive devices include special touchscreen computer, modified pencil, etc.
Prognosis
Down syndrome is a lifelong condition, and currently, there is no cure for it. However, many of the medical conditions and traits associated with the disorder can be treated and
managed with the help of suitable treatment, therapies, education and support. People with Down syndrome are capable of having meaningful relationships, going to school/work, and lead a productive and healthy life like any other person. Most men with the disorder are unable to procreate, while only 1 in 2 women are able to mother a child. Many people with the disorder live up to the age of 60 years or more.
Complications
The medical conditions that commonly occur in people with Down syndrome are given below:
1. Cleveland Clinic. Down syndrome [Internet] [Updated May 30, 2020]. Available at: https://my.clevelandclinic.org/health/diseases/17818-down-syndrome. Accessed on Feb 16, 2020.
2. KidsHealth. Down syndrome [Internet] [Updated Sep, 2019]. Available at: https://kidshealth.org/en/parents/down-syndrome.html. Accessed on Feb 16, 2020.
3. familydoctor.org. Down syndrome [Internet] [Updated Nov 19, 2019]. Available at: https://familydoctor.org/condition/down-syndrome/. Accessed on Feb 16, 2020.
4. Centers for Disease Control and Prevention. Facts about Down syndrome [Internet] [Updated Dec 28, 2020]. Available at: https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html. Accessed on Feb 16, 2020.
5. Johns Hopkins Medicine Johns Hopkins All Children’s Hospital. Down syndrome [Internet]. Available at: https://www.hopkinsallchildrens.org/Patients-Families/Health-Library/HealthDocNew/Down-Syndrome. Accessed on Feb 16, 2020.
6. Stanford Children’s Health. Down syndrome (Trisomy 21) in children [Internet]. Available at: https://www.stanfordchildrens.org/en/topic/default?id=down-syndrome-trisomy-21-90-P02356. Accessed on Feb 16, 2020.
7. Boston Children’s Hospital. Down syndrome [Internet]. Available at: https://www.childrenshospital.org/conditions-and-treatments/conditions/d/down-syndrome. Accessed on Feb 16, 2020.
1. Cleveland Clinic. Down syndrome [Internet] [Updated May 30, 2020]. Available at: https://my.clevelandclinic.org/health/diseases/17818-down-syndrome. Accessed on Feb 16, 2020.
2. KidsHealth. Down syndrome [Internet] [Updated Sep, 2019]. Available at: https://kidshealth.org/en/parents/down-syndrome.html. Accessed on Feb 16, 2020.
3. familydoctor.org. Down syndrome [Internet] [Updated Nov 19, 2019]. Available at: https://familydoctor.org/condition/down-syndrome/. Accessed on Feb 16, 2020.
4. Centers for Disease Control and Prevention. Facts about Down syndrome [Internet] [Updated Dec 28, 2020]. Available at: https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html. Accessed on Feb 16, 2020.
5. Johns Hopkins Medicine Johns Hopkins All Children’s Hospital. Down syndrome [Internet]. Available at: https://www.hopkinsallchildrens.org/Patients-Families/Health-Library/HealthDocNew/Down-Syndrome. Accessed on Feb 16, 2020.
6. Stanford Children’s Health. Down syndrome (Trisomy 21) in children [Internet]. Available at: https://www.stanfordchildrens.org/en/topic/default?id=down-syndrome-trisomy-21-90-P02356. Accessed on Feb 16, 2020.
7. Boston Children’s Hospital. Down syndrome [Internet]. Available at: https://www.childrenshospital.org/conditions-and-treatments/conditions/d/down-syndrome. Accessed on Feb 16, 2020.
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Ayurveda can help prevent Down's syndrome. To help us understand more about this, Dr Smita Naram, Co-Founder, Ayushakti, shares her knowledge with us.
Down Syndrome is a genetic condition that has no cure as yet. But it can be managed very well with love and care. Read on to know it all.
Children suffering from Down Syndrome are at a higher risk of developing eye problems. Here are the common eye conditions that can affect these children and ways to mitigate the risk.
Green tea comes with many benefits. Now a new study says that it can even reduce facial dysmorphology in children with Down's syndrome.
Kids with this medical condition are often said to have a congenital heart defect.
Read this inspiring mother's story of how she dealt with her son, Mehul's Down syndrome.
in your prenatal stage, your doctor will talk about various diagnostic check-ups to ensure the status of your health and that of your unborn baby. One important reason is to check for a chromosomal abnormality like Down syndrome.
"No one supported my decision of adopting a child with Down's syndrome; my parents were against it, my friends warned that no girl would be willing to marry me!"
Down syndrome has no cure and prevention is only possible through prenatal screenings and diagnosis. Know more about this developmental disorder.
Genetic, thyroid conditions, cancer and other reasons of early menopause that you should know of.
The 37-year-old woman wanted to abort her 23-week-old foetus fearing it suffered from Down syndrome.
Researchers have identified a gene that can cause defects in insulin secretion in people with Type-2 diabetes as well as in those with Down syndrome.
Down syndrome linked to cortex thickness: Study
'Meaningful activities can help children with Down's Syndrome'
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