What You Need to Know About Down Syndrome and a New Potential Therapy for it

Recently, a group of researchers at the National Institute of Health found that apigenin, a compound found in plants like celery, chamomile, peppermint and citrus fruits can reduce developmental delays associated with Down syndrome.

The study, published in the American Journal of Human Genetics, has only been conducted in culture cells and animal models.

Down syndrome, also called trisomy 21, is a genetic condition in which a baby is born with an extra 21st chromosome. Normally, humans have 23 pairs of chromosomes. One part of each pair comes from the mother and the other comes from the father. The extra chromosome in Down syndrome leads to both mental and physical delays and disability in the baby.

What causes Down syndrome

In gametogenesis (formation of gametes aka eggs and sperm), each gamete gets only one set of chromosomes ? they have only 23 chromosomes instead of 23 pairs. However, a random fault during the process can cause a gamete to have a pair of 21st chromosomes. When such gametes take part in fertilisation, it leads to Down syndrome.

This type of Down syndrome is not inheritable. Sometimes, however, Down syndrome occurs due to a mutation in the genome and may be transferred from parent to offspring. In this case, the parent does not show symptoms of the condition because the mutation is balanced in the 21st pair. However, the child would have the symptoms typical of the condition.

Symptoms of Down syndrome 

Not all children with Down syndrome have the same symptoms or the same level of disability. They will have their own levels of development and development pace. Here are some symptoms of the condition:

• Flat face and back of the head
• Underweight
• Protruded tongue and small ears, neck and mouth
• Swallowing difficulties
• Slanting, almond-shaped eyes
• Cognitive impairment including learning difficulties, short attention span, delayed speech development and mental retardation

Down syndrome diagnosis

Down syndrome can be screened for and diagnosed either during pregnancy or after the birth of the child. Screening during pregnancy tells the mother if her child is likely to develop the condition but it does not confirm the diagnosis.

Tests like amniocentesis (done between week 15-20 of pregnancy) and chronic villus sampling (done between week 11-14 of pregnancy) provide more comprehensive results.

Treatment of Down syndrome

Since it is a genetic condition, Down syndrome has no cure yet. Children need therapy and medication as per their level and type of disability. For example, a speech therapist may be needed to help improve communication skills, special diet and antacids may be required for those with associated digestive issues. Those with learning difficulties need special education programmes while surgery may be needed for those born with a heart defect.

Those with Down syndrome can live a fairly normal life when given the right treatment and family support.

For more information, read our article on Down syndrome.

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