By Dr. Lahiru Peiris of Base Hospital Thambuttegama
This world is a beautiful and precious place and it belongs to each and every one of us. From humans to animals, we all have equal rights to live on this planet. It doesn’t matter whether you are fair or dark, tall or short, rich or poor. We have all gone through various medical-related issues since we were born. Those medical issues can arise when we are exposed to the world or they may be generated through genetics.
Down’s syndrome is one of the most common genetic disorders in the world, with a worldwide prevalence rate of one in 700 births. Typically, you have 46 chromosomes from both the mother and father, which are 23 pairs, but in Down’s, you get an extra copy of a chromosome, which is chromosome 21. This occurs shortly after fertilization. This extra chromosome will give rise to various medical issues.
This syndrome was first described by an English physician called John Langdon Down in the late 19th Century. It was the French physician Jerome Lejeune who discovered that Down’s syndrome is a chromosomal disorder.
Types
- Trisomy – during cell division, there will be an error which is called nondisjunction. That nondisjunction will cause chromosome 21 instead of the usual two. Then, that extra chromosome will develop in each and every cell in the body. 95% of Down’s syndrome cases are Trisomy 21
- Mosaicism – here, all the cells do not consist of 46 chromosomes. Some cells will consist of 47 chromosomes. People with Mosaic type will show fewer features compared to Trisomy 21. 1% of cases are found to be Mosaic
- Translocation – the total number of chromosomes is static but an extra pair of (complete or partial) chromosome 21 attaches to another chromosome. 4% of cases of Down’s syndrome are translocation
- Flattened face – over the bridge of the nose
- Small head
- Almond-shaped eyes – upward slanting
- Small ears – below the lateral end of eyes
- Short neck
- Small mouth
- Small hands and feet
- Single palmar crease
- Higher web space between the big toe and second toe
- Shorter in height
- Weak/floppy muscle tone
- Congenital heart disease – atrioventricular septal defect, ventricular septal defect
- Gastrointestinal problems – duodenal atresia
- Pneumonia
- Thyroid diseases
- Hearing loss
- Vision problems
- Leukemia
- Delay in development
- Fertility failure
- Mental abnormalities
- They will be like all other babies except for delays in starting activities
- They could grow up to be musicians and even dancers
- Learning disabilities can be detected, and they need special attention
- Psychological counselling can be helpful
- Down’s is a genetic disorder
- No cure has been found yet
- Early screening can be performed before the birth of the child
- It requires multidisciplinary management
- Activities and development may be delayed compared to other children