WHAT IS DOWN SYNDROME?

Commonest chromosomal disorder. First described by Dr. John Langdon Down over 150 year ago (1866). Noted that persons with the condition have common characteristic facial features and varying degrees of learning disability.

 

  • Dr. Down, used the terms “mongolism” and “mongoloid” to describe the syndrome as he stated that there were similar physical characteristics of people with Down Syndrome to people from Mongolia and the Mongoloid race

 

  • Formerly persons with DS were called ‘Mongolian idiots’ and the syndrome was called ‘mongolism’

 

  • Not only is the word offensive to people with Down Syndrome but it is also offensive to Mongolians

 

  • After Mongolia became a member of the United Nations in 1961, it joined the World Health Organization in 1965 and asked for the word Mongoloid to be changed. From then on the disorder became known as Down Syndrome

WHAT IS WORLD DOWN SYNDROME DAY (WDSD)?

World Down Syndrome Day (WDSD) was first observed in 2006 in many countries around the world. On December 19 2011, the United Nations General Assembly declared 21 March as World Down Syndrome Day. The General Assembly decided to designate this day as World Down Syndrome Day, to be observed every year beginning in 2012. They invited all member states, relevant organizations of the United Nations system and other international organizations, as well as civil society, including non-governmental organizations and the private sector, to observe WDSD in an appropriate manner, in order to raise public awareness of Down Syndrome. Of note The Jamaica Down’s Syndrome Foundation were signatures to this successful appeal of Down Syndrome International (DSI) to the United Nations.

 

WHY MARCH 21?

The date for WDSD being the 21st day of the 3rd month was selected to signify the uniqueness of the triplication (trisomy) of the 21st chromosome which causes Down Syndrome.

LOTS OF SOCKS

Down Syndrome International invites everyone across the world to wear LOTS OF SOCKS on 21 March to raise awareness on World Down Syndrome Day (WDSD) and to get people talking about WDSD

WHAT IS THE CAUSE OF DOWN SYNDROME AND CAN IT BE CORRECTED?

 

Nearly 100 years after syndrome was described, a French paediatrician and geneticist Jerome Lejuene in 1959 discovered the cause of Down Syndrome – an extra chromosome 21

 

  • Problem that occur with the contribution of genetic material from the egg and sperm at the time of conception.

  • One pair of chromosome (the 21st pair) has an extra chromosome. Total 47 instead of 46

  • An extra chromosome 21 ---hence condition also called Trisomy 21 (three copies of chromosome 21)

  • As a woman’s eggs age there is a greater inclination for chromosomes to divide improperly. So a woman’s chances of giving birth to a child with DS increases with age.

 

Woman’s risk of conceiving a child with DS

 

By age 35, 1 in 400

By age 40, 1 in 100

By age 45, 1 in 30

 

  • Typically ,a woman who has one child with DS has only about a 1% chance of having another child with DS

 

  • Parents also carry the genetic translocation for DS ( Both men and women can pass the genetic translocation for Down Syndrome on to their children)

TO DATE NO WAY TO REVERSE/ CORRECT THE CONDITION!

 

However, early intervention, improved medical care, parent education and increased social acceptance result in children DS having better skills and higher level of functioning

 

HOW COMMON IS DOWN SYNDROME?

 

  • In Jamaica 1 in 868 live births

    • [JDSF 2006 Study Published in West Indian Medical Journal - WIMJ 2014; 63 (7):693]

 

  • This is in keeping with international experience of 1 in 800 to 1 in 1000 live births

 

  • Based on our birth rate, we therefore anticipate that approximately 50 babies will be born in Jamaica annually with this condition

 

  • Over 600 families currently registered with the Foundation

 

HOW IS DOWN SYNDROME DIAGNOSED?

 

Tests done during pregnancy:

 

  • Blood test early in pregnancy ---low level of alpha feto protein suggestive

 

  • Chromosome examination of tissue lining the babies sac at around 2 months into pregnancy


Chromosome examination of the fluid surrounding the baby at around 4 months of pregnancy





 

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