Down Syndrome

Our bodies are made up of trillions of cells.

In each cell, there are tiny structures called “Chromosomes”.

Chromosomes control how our body forms and functions.

Most people have 23 pairs of chromosomes in each of their cells (46 in total).

Someone diagnosed with Down Syndrome, means they have 3 copies of chromosome 21 (47 in total).

There are 3 types of Down Syndrome:

1.  Trisomy 21: This means the person has 3 copies of chromosome 21 in all of their cells.

2. Mosaic Down Syndrome: This means the person has 3 copies of chromosome 21 in some of their cells.

3. Translocation Down Syndrome: This means the person has the 2 usual copies of chromosome 21, and the 3rd copy of chromosome 21 is attached to another chromosome.

Down Syndrome involves a wide range of symptoms and severities which means that every person will present differently.

Symptoms in children and adults can include:

• Having an Intellectual Disability

• Physical features

  • Small head

  • Round and flat face

  • Short neck

  • Upward slant of the eyes

  • Smaller in size compared to someone their age

• Delays in reaching childhood milestones, such as smiling, sitting up, and walking 

• Poor muscle tone

• Difficulty learning

• Delayed speech

• Difficulty to speak clearly

• Difficulty sleeping

• Problems with weight

• Problems with eyesight and hearing

There is no research to explain why someone is born with an extra chromosome 21.

The only risk factor thought to be linked to Down Syndrome is the age of the mother when she gets pregnant.

Down Syndrome can be diagnosed before birth with prenatal tests.

After birth, Down Syndrome can be confirmed with a blood test.

While there is no cure for Down Syndrome, diagnosis and specifically tailored treatment are important for improving quality of life.

Services available to help with Down Syndrome include:

Paediatrician: A Paediatrician can help treat and provide routine childhood care.

Psychology: A Psychologist can help to develop emotion regulation skills.

Positive Behaviour Support: A Behaviour Support Practitioner can help to understand behaviours of concern, provide strategies, and build skills.

Occupational Therapy: An Occupational Therapist can support independence and participation in daily life.

Speech Pathology: A Speech Pathologist will focus on developing communication skills.

1. Down Syndrome was named after an English Physician, John Langdon Down, who first described it.

2. Trisomy 21 is the most common type of Down Syndrome.

3. 1 in every 1100 babies in Australia are diagnosed with Down Syndrome.

Better Health

https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/down-syndrome

Cleveland Clinic

https://my.clevelandclinic.org/health/diseases/17818-down-syndrome

Down Syndrome Australia

https://www.downsyndrome.org.au/about-down-syndrome/what-is-down-syndrome/

https://www.downsyndrome.org.au/wp-content/uploads/2021/02/About-Down-Syndrome_English_2021.pdf

Health Direct

https://www.healthdirect.gov.au/down-syndrome

Mayo Clinic

https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977

National Down Syndrome Society

https://ndss.org/about

Raising Children Network

https://raisingchildren.net.au/disability/guide-to-disabilities/assessment-diagnosis/down-syndrome

U.S. Centers for Disease Control and Prevention

https://www.cdc.gov/birth-defects/about/down-syndrome.html#:~:text=Down%20syndrome%20is%20a%20genetic,healthy%20lives%20with%20supportive%20care.