Down Syndrome is a genetic condition caused by an extra genetic material in Chromosome 21. Chromosomes are the carries of all genetic information (from eye colour to in living things, and humans have 23 pairs, (46 in total). A person with down syndrome will have 47 chromosomes instead of 46.
Due to the extra material in the chromosome, the condition manifests itself in various ways including low muscle tone, small stature and an upward slant to the eye.
March 21 is the World Down Syndrome Day, and here are a few things to know about the condition:
- There are three types of Down Syndrome
Trisome 21 is the common type of this condition, making up 90-95% of cases. It results from the failure of chromosomes to separate during fertilisation. It is not hereditary.
The rare Mosaic type happens when the chromosome 21 does not separate after fertilisation, meaning that some cells have 47 chromosomes and others have 46. A person living with this condition will have mild symptoms of Down Syndrome because some cells are normal.
The translocation type manifests when the extra material (usually found in chromosome 21) attaches itself to Chromosome 14 or other chromosomes. This is a hereditary condition.
- Globally, the prevalence is 1 in 1000
According to the United Nations, approximately 3,000 to 5,000 children are born with the condition each year.
The World Health Organisation states that
Sixty to 80 percent of children with Down Syndrome have hearing deficits. Forty to 45 percent of children with Down Syndrome have congenital heart disease. Intestinal abnormalities also occur at a higher frequency in children with Down Syndrome. Children with Down Syndrome often have more eye problems than other children who do not have this chromosome disorder.
It further states that the condition can be managed with “parental care and support, medical guidance and community-based support systems like special schools”.
Down Syndrome diagnosis/prognosis varies
Down syndrome can be diagnosed prenatally and at birth. According to the US National Down Syndrome Society, two tests can be performed before the baby is born. The screening test provides the probability of a fetus having the condition, while the diagnostic test provides a definitive answer.
At birth, the physical symptoms of down syndrome are used to identify the condition. However since some children will not show this, chromosomal analyses called karyotype and FISH are conducted to confirm the diagnosis.
Handbook for new parents in Kenya
The Down Syndrome Society of Kenya (DSSK) has created a parents’ handbook (PDF) to provide them with information about the condition. The DSSK is a non-profit organisation that seeks to bring together parents/guardians of and people living with down syndrome.
The handbook contains information parents need to know when it comes to raising their children, from developmental milestones to health challenges.
This year’s World Down Syndrome Day calls upon people living with Down Syndrome to tell the world about the things they can bring to the community. It seeks to
- explain how people with the condition make meaningful contributions throughout their lives and in all sectors;
- highlight how myths and negative attitudes deny individuals with the condition the opportunities to make such contributions;
- Empower people with Down syndrome and their supporters (parents, guardians and caregivers) to advocate for their rights and opportunities contribute to the society
- highlight the benefits of enabling people with Down syndrome to make meaningful contributions to stakeholders in order for them to share the message and create enabling environment.