Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. It can be caused by trisomy 21, translocation, or mosaicism. Common symptoms include distinctive facial features, poor muscle tone, cognitive delays, and heart defects. While there is no cure, early intervention including speech, physical, and occupational therapy can help children with Down syndrome reach their full potential. Lifespan and quality of life have improved significantly in recent decades for those living with Down syndrome.

1. DOWN SYNDROME
By: Ishika Chawla

2. AGENDA
 Definition
 Causes
 Types: Trisomy 21
Translocation
Mosaic
 Nature vs Nurture- Is it inherited?
 Risk Factors
 Symptoms
 Difference Between Normal & Down Syndrome Child
 Complications

3. AGENDA
 Early Intervention
 Treatment- Speech Language Therapy
Physical Therapy
Occupational Therapy
 Is there a cure for Down Syndrome
 Facts
 Question

4. What is Down
Syndrome?
•Down syndrome is a genetic disorder
caused when abnormal cell division
results in an extra full or partial copy of
chromosome 21. This extra genetic
material causes the developmental
changes and physical features of Down
syndrome

5. Causes
 Human cells normally contain 23 pairs of chromosomes.
One chromosome in each pair comes from your father, the
other from your mother.
 Down syndrome results when abnormal cell division
involving chromosome 21 occurs. These cell division
abnormalities result in an extra partial or full chromosome
21. This extra genetic material is responsible for the
characteristic features and developmental problems of
Down syndrome

6. Types:
 Trisomy 21: It is most common type of Down syndrome .Instead of 22
chromosomes in cell there are 23 chromosomes. A person who is suffering
with Down syndrome have 47 chromosomes rather than 46.It is caused by
abnormal cell division during the development of sperm cell or the egg cell. It
is accounted for 95% cases .
 Translocation: This occur when part of chromosome 21 becomes attached
(translocated) onto another chromosome, before or at conception. Children
have the usual two copies of chromosome 21, but they also have additional
material from chromosome 21 attached to the translocated chromosome.
Translocation is accounted for only 4% cases.
 Mosaic: Most rare form of down syndrome. Children have some cells with
extra copy of chromosome 21. This mosaic of normal and abnormal cells
caused by abnormal cell division after fertilization. As compared to other,
cases of this disorder are minor (1%)

7. Nature vs Nurture
There are no known behavioral or
environmental factors that causes down
syndrome

8. Is it Inherited?
• Most of the time Down Syndrome isn’t inherited.
It’s caused by a mistake in cell division during the
development of embryo, egg or sperm.
• Translocation Down Syndrome is the only form
of disorder that can be passed from the parent to
child. However, only about 4% of children have
translocated down syndrome. And only half of
these children inherited it from their parents.

9. Risk Factors
 Advancing maternal age: A women’s chances of giving birth
to down syndrome child with age because older eggs have a
greater risk of improper chromosomal division
 Having had one child with DS: Typically, women having one
child with DS has about 1% chance of having another baby
with DS.
 Being carriers of the genetic translocation DS: Both men
and women can pass the genetic translocation DS on to
their child.

10. Symptoms
• A distinct facial appearance: Flattened facial features
• Small heads
• Short neck
• Protruding Tongue
• Upward slanting eyes
• Unusually shaped ears
• Poor muscle tone
• Broad, short hands with single crease in palm
• Relatively short fingers
• Excessive Flexibilty

12. Symptoms
• Short attention span
• Poor judgment
• Impulsive behavior
• Slow learning
• Delayed language and speech development
Cognitive and behavioral problems may include:

13. Difference between normal and DS
child

14. Complications
 Heart defects. About half the children with Down syndrome are born with some type of
congenital heart defect. These heart problems can be life-threatening and may require
surgery in early infancy.
 Gastrointestinal (GI) defects. The risk of developing digestive problems, such as GI
blockage, heartburn (gastroesophageal reflux) or celiac disease, may be increased.
 Immune disorders.
 Sleep apnea.
 Obesity
 Spinal problems
 Leukemia
 Dementia.
 Delayed speech
 Other problems. Down syndrome may also be associated with other health conditions,
including endocrine problems, dental problems, seizures, ear infections, and hearing and
vision problems.

15. Early Intervention
Early intervention is a systematic program of therapy, exercises
and activities designed to address developmental delays that may
be experienced by children with Down syndrome – with the
goal of enhancing the development of infants and toddlers and
helping families understand and meet the needs of their
children.

16. Speech Language Therapy
Speech language treatment tends to correspondence and language abilities
by concentrating on explanation, cognitive skills, and fortifying the oral
muscles (tongue, lips). speech language treatment can be utilized at the
newborn child and baby stages. The general objective is to improve the
child's capacity to communicate. One thing to look out for specifically is
hearing loss. Because of anatomical contrasts in young children with Down
Syndrome, they are inclined to liquid maintenance behind the eardrum that
can cause hearing loss. Despite the fact that the liquid can be depleted, this
occasionally constant condition represents how a kid's learning of sound-
related language can be disturbed. The outcome is, obviously, deep rooted
challenges in speech and understanding. communication takes numerous
forms, and your kid's particular needs will shape what is worried during
treatment sessions.
https://www.youtube.com/watch?v=Fu777r9Jsn8&authuser=1

17. Physical Therapy
It focuses on improving how an individual move. Since children
and grown-ups with Down Syndrome generally have poor muscle
tone and smaller hands, physical therapy recuperation can mollify
any troubles brought about by these attributes. Physical therapy
recuperation routine will probably incorporate strengthen and
toning muscles, improving overall coordination and balance, and
correcting posture.
https://youtu.be/uTPmrTLT3_8

18. Occupational Therapy
Like the name suggests, occupational therapy is intended to
improve the everyday tasks and skills essential for carrying on with
a sound life and effectively exploring society. Unlike physical
therapists, occupational therapists focus on improving fine motor
skills and the performance of day by day errands like getting
dressed, brushing one's teeth, and eating. As the youngster gets
old, the focuser will move to abilities like writing and utilizing a
PC.
https://www.youtube.com/watch?v=Rz4wbdeqIPM

19. Is there a cure for Down
Syndrome?
 No, there is no cure.
 It cannot be prevented.
 Scientists do not know why problems involving chromosome
21 occurs.
 Down Syndrome is not caused by anything either of parents
did or did not do.

20. Facts Related to Down
Syndrome
 Down Syndrome is named after John Langdon Down, the British doctor who
first described the condition in 1887 (Gavin, 2012)
 1 in every 691 babies born in the United States are born with Down Syndrome
(about 6,000 births per year) (National Down Syndrome Society, 2012)
 At age 30 a woman has a 1 in 1,000 chance of having a baby with Down
Syndrome (Gavin, 2012)
 At age 35, a woman has a 1 in 400 chance of having a baby with Down
Syndrome (Gavin, 2012)
 At age 40, a woman has a 1 in 100 chance of having a baby with Down
Syndrome (Gavin, 2012)
 There are 3 different types of Down syndrome: trisomy 21 (95%),
translocation (4%), and mosaicism (1%) (National Down Syndrome Society,
2012)

21. Facts Related to Down
Syndrome
 There are more than 400,000 people living with Down Syndrome in the
United States (National Down Syndrome Society, 2012)
 80% of children born with Down Syndrome are born to woman under the
age of 35 (National Down Syndrome Society, 2012)
 Life expectancy for people with Down Syndrome has increased greatly
recently, from 25 in 1983 to 60 in 2012 (National Down Syndrome Society,
2012)
 Down syndrome is hereditary in about 1% of cases (National Down
Syndrome Society, 2012)
 Translocation is the only type of Down Syndrome that is known to have a
hereditary link, and that only occurs in about 1/3rd of the cases (National
Down Syndrome Society, 2012)
 Down syndrome is the most common genetic condition (National Down
Syndrome Society, 2012)

22. Don’t Limit Them!!!!
https://youtu.be/YOwDfnoek6E

23. Questions
 What is Down syndrome?
 Can you catch Down syndrome?
 What are the causes of Down syndrome?
 What are the symptoms of Down syndrome?
 What treatment for Down syndrome exists?
 Are there any cures for Down syndrome?

25. Thankyou