What is Down Syndrome?

Down syndrome is a birth condition in which a person is born with an extra pair of chromosomes. It is a genetic disorder and not something that can be acquired or transmitted to a person during the course of his life.

 Ideally, a healthy baby has 46 chromosomes at the time of birth, but a baby with Down syndrome has an extra copy of a chromosome called Chromosome 21. This extra genetic material changes the way in which a baby’s body and brain development for the rest of its life, which can bring various challenges for a person for efficient day-to-day functioning. 

This inability can bring a lot of frustration in the person affected by his condition and his family and friends. Brilliant life Services aims at providing the necessary support, therapy, and services to help people with disabilities develop a positive approach to dealing with their condition. It also helps the families to understand the situation and cope with it in a better way. 

People with down syndrome can never be cured, but timely intervention can manage their symptoms effectively.

Let us try to understand this condition in detail:

Causes of Down Syndrome 

To understand the causes of Down Syndrome, let us first try understanding what a chromosome is. 

Chromosomes are an organisation of proteins and genes inside each cell of a human body. A healthy body has 23 pairs of chromosomes. When there is an extra copy of one of the chromosomes (Chromosome21) in a baby, that condition is called trisomy. Down syndrome is also referred to as trisomy21. A faulty cell division causes it at the time of conception, but the reason for the same can not be attributed to the mother or the father. 

Types of Down Syndrome 

There are three types of Down Syndrome.

• Trisomy 21 is the most common type of Down Syndrome where an extra pair of Chromosome 21 attaches itself to every cell of the body. Almost 95 percent of people with Down syndrome have this variant. 
• Translocation is that variant of Down syndrome where a copy of chromosome 21 attaches itself to just one other chromosome, usually chromosome 14.
• Mosaicism is a variant of Down syndrome where the faulty cell division of chromosome 21 happens only in the initial phase of cell formation and not after that. It is a very rare type of Down syndrome 

Let us try to understand the symptoms of Down Syndrome.

The symptoms of Down syndrome vary from person to person, but there are a few common characteristics. 

• There are a few physical traits that are common amongst many people who have Down syndrome, like, eyes that slant towards the corners, a flattened face, small stature, a flat nose, a short neck, and small arms and feet.
• Most people with this condition have comparatively lower IQ, and it causes cognitive and thinking impairment. 
• A less common symptom of this condition involves serious heart conditions. 
• Almost all children with Down syndrome speak slower than other kids. 

Although this condition cannot be cured, it can be managed. An organisation like Brilliant Life Services, which is one of the best Disability support services in Australia, can help create joyful opportunities for people with disabilities by giving them a fresh approach to tackle their situation with a lot of love and guidance.