Downs syndrome

DOWN SYNDROME OVERVIEW

Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.

Down syndrome varies in severity among individuals, causing lifelong intellectual disability and developmental delays. It's the most common genetic chromosomal disorder and cause of learning disabilities in children. It also commonly causes other medical abnormalities, including heart and gastrointestinal disorders. People with Down syndrome usually have an IQ (a measure of intelligence) in the mildly-to-moderately low range and are slower to speak than other children.

TYPES OF DOWN SYNDROME

1. Trisomy 21: About 95% of people with Down syndrome have Trisomy 21.2 With this type of Down syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies.
2. Translocation Down syndrome: This type accounts for a small percentage of people with Down syndrome (about 3%).2 This occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.
3. Mosaic Down syndrome: This type affects about 2% of the people with Down syndrome.2 Mosaic means mixture or combination. For children with mosaic Down syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21. Children with mosaic Down syndrome may have the same features as other children with Down syndrome. However, they may have fewer features of the condition due to the presence of some (or many) cells with a typical number of chromosomes.

CAUSES

There are three types of Down syndrome with different causes, including:

1. Trisomy 21.
2. Translocation.
3. Mosaicism.

SYMPTOMS

PHYSICAL SYMPTOMS

1. A flattened face, especially the bridge of the nose
2. Almond-shaped eyes that slant up
3. A short neck
4. Small ears
5. A tongue that tends to stick out of the mouth
6. Tiny white spots on the iris (colored part) of the eye
7. Small hands and feet
8. A single line across the palm of the hand (palmar crease)
9. Small pinky fingers that sometimes curve toward the thumb
10. Poor muscle tone or loose joints
11. Shorter in height as children and adults

COGNITIVE SYMPTOMS

1. Walk and move (gross and fine motor skills).
2. Speak (language development skills).
3. Learn (cognitive skills).
4. Play (social and emotional skills).
5. As a result, it may take your child longer to do the following things:

1. Toilet training.
2. Speaking their first words.
3. Taking their first steps.
4. Eating food independently.

BEHAVIIRAL SYMPTOMS

Behavioral symptoms of Down syndrome could include:

1. Stubbornness and tantrums.
2. Difficulty paying attention.
3. Obsessive or compulsive behaviors.

ASSOCIATED PROBLEMS

1. Heart problems.
2. Thyroid abnormalities.
3. Gastrointestinal problems like constipation, gastroesophageal reflux and celiac disease.
4. Autism, challenges with social skills, communication and repetitive behaviors.
5. Alzheimer’s disease 

STATISTICS