Down’s syndrome is a condition in which a baby is born with an extra copy of its 21st chromosome. The condition causes delays in both physical and mental development as well as disabilities. Many of the disabilities are lifelong and they can also reduce life expectancy.
People with Down’s syndrome and their families can now have institutional support. With recent medical advances, patients now have many opportunities to overcome the challenges caused by the condition and still lead otherwise healthy and fulfilling lives.
Causes of Down syndrome
Both parents pass on their genes, carried in chromosomes, to their babies. Each cell of the baby is supposed to have 46 pairs of chromosomes, 23 chromosomes from each parent. The developing fetus should have two pairs of chromosome 21.
But in children with Down’s syndrome, one of the chromosomes 21 fails to split properly and the baby ends up with a third extra, partial, copy of chromosome 21 instead of two. This extra chromosome interrupts the child’s growth even as the brain and physical features develop.
Types of Down’s syndrome
There are three types of Down syndrome:
- Trisomy 21: This is the most common variation of the syndrome where is an extra copy of chromosome 21 in every cell.
- Mosaicism: In Mosaicism, chromosome 21 failed to split properly into some of the cells but not all. This is a less severe form of the condition and there are fewer disabilities than in Trisomy 21.
- Translocation: In this type, babies have only an extra part of chromosome 21. Out of the total 46 chromosomes in the cell, only one of them has the extra piece attached.
Symptoms of Down’s syndrome
There are no signs that the baby has Down’s syndrome during pregnancy, though the condition can be detected during routine screening in the prenatal period. At birth, babies with Down’s syndrome usually have these physical characteristics:
- Flat facial features
- Small head and ears
- Short neck
- Bulging tongue
- Eyes that slant upward
- Asymmetrically shaped ears
- Poor muscle tone
A baby with Down’s syndrome will be of average size at birth but will develop slower than a normal child. There can also be mild to moderate physical, mental and social disabilities. The last two may manifest in:
- Impulsive behavior
- Poor judgment
- Short attention span
- Slow learning capabilities
People with Down’s syndrome may also have the following medical complications:
- Congenital heart defects
- Hearing loss
- Poor vision
- Cataracts (clouded eyes)
- Hip problems, such as dislocations
- Chronic constipation
- Sleep apnea (interrupted breathing during sleep
- Dementia (thought and memory problems)
- Hypothyroidism (low thyroid function)
- Late tooth growth, causing problems with chewing
- Alzheimer’s disease later in life
CAPAAR has the Best Pediatric Physiotherapist in Hulimavu, Bangalore. Down’s syndrome also makes people more vulnerable to infection. Patients may struggle with skin, respiratory, urinary and other infections.