Down’s Syndrome, also known as Down syndrome or trisomy 21, is a genetic condition that results in physical and mental abnormalities that causes delays in physical and intellectual development. This genetic difference is present from conception itself affecting the person diagnosed throughout prenatal development, infancy, childhood and their adult life. Individuals with Down’s Syndrome have 47 chromosomes instead of the usual 46.
Health Capsule got in touch with Dr. Gemunu Hewawitharana, a pediatric neurologist, to shed light on the topic.
“Down syndrome is a genetic condition which is non-hereditary. It occurs when an error results in the coming together of chromosome 21. This condition occurs when an individual has 47 chromosomes in each cell instead of the usual 46 chromosomes. Trisomy 21 is caused by an error in cell division which is referred to as non-disjunction. This leaves an egg cell with an extra copy of chromosome 21 before or at conception. The extra copy of chromosome 21 is contributed by the maternal side.
“There are three ways Down syndrome could occur. Non-disjunction, translocation and mosaicism. Non-disjunction or in other words, trisomy 21 is the most common type of Down syndrome. It occurs when there are three, rather than the usual two number 21 chromosomes present in every cell of the body. The cause of nondisjunction isn’t known, but there is definitely a connection with maternal age. If the mother is older than 35 years of age, the chance her offspring might be diagnosed with Downs increases with the likelihood of the age of the mother. This doesn’t change the fact that the offspring of younger mothers are still at risk too. 95% of the time this genetic condition is non-inheritant,”Dr. Hewawitharana said.
When asked When asked how Down syndrome can be identified within young children, Dr. Hewawitharana stated that, “Children with Down Syndrome can be identified by their external appearance;
- Eyes that slant upward and outward
- Below average weight and length at birth
- Floppiness (hypotonia)
- Moon faced (round faced)
- Low set of ears
- A flat back on the head (flat occiput)
- A single crease on the palm
- Wider gap between the first and the
- Hearing and vision problems
- Recurrent infections such as pneumonia
Young children with Down syndrome have an increased risk of leukemia, dementia and congenital heart disease. Down syndrome can affect hormonal problems such as hypothyroidisms or in layman’s terms, thyroid hormone deficiency.
Although there is no ‘cure’ for down syndrome there is support available to help children with the condition to lead healthy, fulfilling lives. Rehabilitation programs involving multidisciplinary teams that include occupational therapists, physiotherapists, speech and language therapists and special educational teachers in addition to medical staff could help them reach their full potential. Making sure they have access to good healthcare would ensure their physical and psychological development,” added
Prenatal screening tests could help ensure a brighter future for those who are diagnosed with this genetic disorder. They could benefit with early interventions such as physical therapy, speech and language therapy. At the end of the day it all boils down to making sure that there would be ways and means of improving their quality of life.