Down Syndrome which is also called Down’s Syndrome , is a genetic defect that causes mental and physical developmental delays which show up as notable disabilities in children and adults.
This genetic defect also shortens the life expectancy of adults with Down syndrome, although advances in medical science enable many of them to cope with their disabilities and live long and healthy lives.
What are chromosomes?
In a nutshell, each human cell has a nucleus which controls all cell activity, i.e., it is the command center. Each nucleus houses one chromosome which is a large amount of tightly packed genetic material called DNA. If laid out, the DNA in a single chromosome would be nearly 2m in length.
Human beings have 23 pairs of chromosomes broken down into 22 pairs of numbered chromosomes (autosomes) and a pair of sex chromosomes X and Y, so there are a total of 46 chromosomes in total.
Technically, one parent contributes one chromosome to each pair, so a baby gets half of its chromosomes from the mother and half from the father.
How does a baby get Down syndrome?
In Down syndrome, a baby is born with an extra or partial copy of chromosome 21.
The extra or partial copy of chromosome 21 doesn’t separate properly, with the baby ending up with two chromosome 21 and an extra or partial copy, which is what causes delays in normal mental and physical development.
There are three types of Down Syndrome, namely:
Trisomy 21 – the most common form of Down Syndrome where there is an extra copy of chromosome 21 in every cell.
Mosaicism – the extra chromosome is present in some, but not all cells. This is a less severe form of Down Syndrome.
Translocation – there is only an extra part of chromosome 21, i.e., out of the 46 chromosomes, one has an extra piece of chromosome 21 attached to it.
Chances of a baby having Down Syndrome
Medical research has found some factors that increase the chances of having a baby with Down Syndrome, such as:
Maternal Age – mothers aged 35 and older have higher chances of having a Down Syndrome baby.
Paternal Age – fathers aged 40 and older have twice the chance of having a Down Syndrome baby.
Family History – chances increase if there is a family history.
Genetic translocation – a phenomenon where the chromosomes are re-arranged.
Important Note: Having one of these factors is not a guarantee of having a baby with Down Syndrome, but it may increase the chances. Hence it is important for both parents to go for health screenings before starting a family, if they fall into any of the above groups.
Characteristics of babies with Down syndrome
- eyes slanting upwards
- flat facial features
- small head and ears
- short neck
- bulging tongue
- slow or very poor mental and physical development
Down Syndrome children and adults usually have impaired developmental disability, such as:
- impulsive behaviour
- very short attention span
- slow learning capability
- bad judgement
Medical complications that accompany people with Down syndrome
Due to their delayed and often weak physical development, children and adults that have Down syndrome have medical conditions which include:
- dental problems
- heart defects
- poor hearing and vision
- respiratory infections
- skin infections
- urinary tract infections
Treatment for people with Down syndrome
There is no known cure for people with Down syndrome, but advances in the medical and educational field have made various forms of assistance available to help people are born with Down syndrome cope better with their disabilities, which will improve their health, mobility and quality of life.
Therapy plays a vital part in improving the following living skills:
In the past, babies born with Down syndrome did not live for more than 10 years. With modern care facilities and stronger family support, many adults with Down syndrome can live up to 50 or even 60 years of age, as they can overcome many more obstacles nowadays. Early intervention is crucial for children born with Down syndrome, to teach them how to adapt to life better with their disabilities.
We hope this general article discussing Down syndrome is informative to our readers, though it should not be taken as medical advice. Readers are always encouraged to consult a qualified medical practitioner for proper medical advice.
23rd September 2020 20:30
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