Down Syndrome: Causes, Features And Treatment Of The Genetic Disorder

Down syndrome is a genetic disorder that results from an extra copy of chromosome 21. Hence, it's sometimes referred to as trisomy 21. Unfortunately, this extra copy of chromosome has far-reaching implications for the overall development of the baby's brain and body during intrauterine and extrauterine life.

Globally, Down syndrome remains the most common chromosome abnormality in humans, occuring in about 1 per 800 births annually and resulting in approximately 17000 deaths. Furthermore, it is in recognition of the sheer enormity of Down syndrome that March 21 every year was designated as World Down Syndrome Day (WDSD) to raise public awareness about the condition while advocating for the rights, wellbeing and inclusion of persons living with it.


Highlighted below are answers to a few salient questions you may have as far as Down syndrome is concerned.

1. What is the cause of Down syndrome?

Patients with Down syndrome have 3 copies of chromosome 21 instead of the usual 2 copies due to non-separation of the 21st chromosome during sperm or egg development. While the exact cause of this disorder remains unknown, a number of factors that can increase a woman's risk of delivering a baby with Down syndrome have been identified. For instance, when the woman's age is above 35 years, her pregnancy is more likely to be affected by Down syndrome as well as other chromosomal abnormalities. Similarly, old age on the father's part also poses further risk when the woman is above 35 years. In addition, women who have had one child with Down syndrome usually stand about 1% risk of having a second baby with the disease.

2. What are the features of Down syndrome?

Children with Down syndrome often have a flattened face with a short neck and small ears. They tend to be shorter than their age-mates and have a poor muscle tone and loose joints. Furthermore, 47% of them have large tongues that may protrude out of their mouth. Also, a single line (palmar crease) that runs across the palm of the hand is not uncommon among children with Down syndrome.

3. What are the problems associated with Down syndrome?

Unfortunately, individuals affected by Down syndrome may also experience a number of problems that sometimes accompany the condition. For instance, they usually have relatively low IQ with mild-to-moderate intellectual disability. Also, they are at a higher risk of seizures and dementia. Other attendant problems may include hearing loss, sleep difficulties, ear infections and heart defects at birth. Although it is less common, some of the children may develop leukemia (cancer of the blood) during infancy and early childhood.

4. How is Down syndrome diagnosed?

Typically, Down syndrome is often diagnosed in two stages - screening tests followed by the more invasive diagnostic tests. The screening tests are safer for the mother and baby and help to determine whether a diagnostic test will be necessary. Examples of screening tests include obstetric ultrasound scan to examine the foetus in the womb coupled with series of blood tests and DNA analysis of the mother. To confirm a positive screening test, diagnostic tests such as amniocentesis, chorionic villus sampling or percutaneous umbilical blood sampling can be done. However, they carry an increased risk of miscarriage.

5. How is Down syndrome treated?

It is essential for parents of children with Down syndrome to understand that it is a lifelong condition and the child needs maximum support to realize his full potential. Services such as physiotherapy, occupational and speech therapy are indispensable at the early stage of their lives. They may also need extra attention in school to cope well in their studies. In early childhood, they need to be screened for common medical problems such as heart conditions and treatment offered where necessary. For instance, surgical repair of the heart is sometimes necessary as early as 3 months in children with a heart condition.

In conclusion, unrelenting family support coupled with an enabling environment cannot be over stressed in the care of these children to enable them live as normal a life as possible.
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