This document provides information about Down syndrome, including its causes, risk factors, types, symptoms, diagnosis, treatment, and prevention. Down syndrome is a chromosomal disorder caused by the presence of all or part of an extra copy of chromosome 21. It was first described in 1887 by John Langdon Down. The estimated worldwide incidence is between 1 in 1,000 to 1 in 1,100 live births. Over 95% of cases are caused by Trisomy 21, where there are three copies of chromosome 21 instead of the typical two copies. Screening and diagnostic tests during pregnancy can determine if a fetus has Down syndrome. Therapies after birth focus on physical, speech, occupational and behavioral therapy. While Down syndrome cannot be

2. DOWN SYNDROME
PRESENTED BY,
Mrs.J.JEBA AROKKIA KANI M.Sc.,M.Phil.,
ASSISTANT PROFESSOR,
ANNASAMY RAJAMMAL COLLEGE OF NURSING,ATHIYOOTHU.

3.  Is a chromosomal disorder caused by the presence of all
or part of a third copy of chromosome 21.
 Most common chromosome abnormality in human
being.
DEFINITION

4. DISCOVERY
Discovered by John Langdon Down, the British doctor
He described
the condition in
1887

5. INCIDENCE
The estimated incidence of Down syndrome
is between 1 in 1,000 to 1 in 1,100 live births
worldwide.
Each year, approximately 3,000 to 5,000
children are born with this chromosome
disorder.

6. RISK FACTORS
Mother who already had
one child with Down
syndrome
Parents who are carriers
of Down syndrome
Advanced
maternal
age( above
35)

7. DNA AND CHROMOSOMES
• In the nucleus of each cell, the DNA molecule is
packaged into thread-like structures
called chromosomes.
• Each chromosome is made up of DNA tightly
coiled many times around proteins called histones
that support its structure.
• DNA and histone proteins are packaged into
structures called chromosomes.

9. AUTOSOMES
 An autosome is any chromosome that is not a
sex chromosome (an allosome)
 Humans have 22 pairs of autosomes (or 44 in
total) that are numbered 1 through 22.
 These numbers indicate the size of
the autosome.
 For example, chromosome 1 is the longest, and
chromosome 22 is the shortest

10. CHROMOSOMES

11. ALLOSOMES
 The 23rd pair is sex chromosomes
It can be either a longer X -chromosome
or a
shorter Y-chromosome

12. Trisomy 21
About 95% of people with Down syndrome have
Trisomy 21.
With this type of Down syndrome, each cell in the
body has 3 separate copies of chromosome 21
instead of 2 copies.

13.  About 3% of people with translocation Down
syndrome
 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.

14.  This type affects about 2% of the people with
Down syndrome.
 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. (some containing the usual 46
chromosomes and others containing 47)

16. Mental Symptoms
 Down syndrome also affects a person’s ability to think,
reason, understand, and be social.
 Children with Down syndrome often take longer to
reach important goals like crawling, walking, and
talking.
 As they get older, it may take more time before they get
dressed and use the toilet on their own.
 In school, they may need extra help with things like
learning to read and write.

17. Complications
• Heart defects
• Gastrointestinal (GI) defects
• Immune disorders
• Sleep apnea
• Obesity
• Spinal problems
• Leukaemia
• Dementia
• Others-endocrine problems, dental problems, seizures,
ear infections, and hearing and vision problems

19. Chorionic villus sampling
Examines material from the placenta

20. Amniocentesis
Examines the amniotic fluid (the fluid from the sac surrounding the
baby)

21. PERCUTANEOUS UMBLICAL BLOOD
SAMPLING
Examines the blood from umbilical cord

22. DIAGNOSIS AFTER BIRTH
The diagnosis can be suspected based on the
physical appearance of the child
The child's chromosome to be diagnosed to
determine if a translocation is present
This may help determine the risk to child's
parents having further children with down
syndrome

23. THERAPIES
• Physical therapy
• Speech therapy
• Occupational therapy
• Behavioral therapy

24. Can Down syndrome be prevented?
 Down syndrome can’t be prevented
 But parents can take steps that may reduce the risk.
 Women can reduce the risk of Down syndrome by
giving birth before age 35.

25. THEME OF 2020
"We Decide"
For World Down Syndrome Day 2020, Down
Syndrome International focuses on the theme "We
Decide": all people with Down syndrome should have
full participation in decision making about matters
relating to, or affecting, their lives.

26. THEME
• Demonstrate human beings themselves decide what is
important and who should be signified in decision
making
• People having down syndrome must not be
discriminated and should not be decided as “ ugly ”
taking upon their physical looks

27. 1.Isabella Springmuhl Tejada-
Designer

28. 2.Karen Gaffney—Athlete

29. 3.Sujeet Desai—Musician

30. 4.Pablo Pineda—Dip T BA

31. 5.Madeline Stuart-Super model

33. THANK YOU