Down's Syndrome

Keywords

Down's syndrome, genetics, DNA, deoxyribonucleic acid, chromosome 21, trisomy 21, facial features, learning development, lower IQ, treatments.

Introduction

A genetic disease that wasn't fully understood until the 1970s, Down's Syndrome is where a baby has an extra chromosome (more precise, an extra copy of chromosome 21). This is known as 'trisomy', and you may find Down's Syndrome also being called Trisomy 21.

As a baby develops within the womb, and once born, Down's Syndrome can change how the body and brain develop, and this can cause mental and physical problems later in life.

Down's Syndrome Features

Although a child with Down's Syndrome can act like a normal child, they might have a lower IQ, or be slower to speak than other children. Some other features include:

• A flattened face
• Almond-shaped eyes that slant upwards
• A short neck
• Small ears
• A tongue that tends to stick out of the mouth
• Tiny white spots on the iris of the eye
• Small hands and feet
• A single line across the palm of the hand
• Small pinky fingers that can curve toward the thumb
• Poor muscle tone or loose joints
• Shorter in height throughout childhood and adulthood

Each year, up to 1,000 babies can be born with Down's Syndrome. This is the most common form of chromosome abnormality, and is the most widely known and recognised genetic disorder.

Interesting fact: in 1983, the average life expectancy of someone with Down's Syndrome was 25 years old. Today, that life expectancy is now around 60.

Testing and Diagnosis

Diagnosis can happen as early as 24 weeks in the womb. A pregnant woman can have a test to see if the baby is developing correctly, and there are two tests that can be taken, but none of them guarantee anything. For diagnostic tests, there are three types:

Chorionic villus sampling: this examines material from the placenta.

Amniocentesis: this examines the amniotic fluid (the fluid from the sac surrounding the baby).

Percutaneous umbilical blood sampling: this one examines a blood sample taken from the umbilical cord.

Treatments

Down's Syndrome is a lifelong condition, and there is no cure for it, however, if viewed from an early age, it can be helped in early life, with clinics running services that will help with mobility and intellectual abilities.

Once a child reaches school age, they may also need support with work and learning, and this is done through SEN placements, and other various supports they are entitled to.