Down syndrome is a genetic disorder caused by the presence of an extra chromosome 21. There are four main types, with Trisomy 21 being the most common form. Risk factors include advanced maternal age. Physical signs may include a flat face, slanted eyes, and short stature. Diagnosis can occur prenatally through tests like amniocentesis. Complications can include heart defects, gastrointestinal issues, hearing/vision problems, and cognitive disabilities. Treatment focuses on physical, occupational and speech therapy.

1. GRACIOUS COLLEGE OF NURSING RAIPUR
DOWN SYNDROME
PRESENTED BY
OM VERMA
ASSISTANT PROFESSOR

2. INTRODUCTION
Down syndrome is also referred to as Trisomy
21. Down syndrome is a genetic condition
where people are at the birth with an
extra chromosome. Most people have 23 pairs
of chromosomes within each cell in their body,
of chromosomes within each cell in their body,
for a total of 46. A person diagnosed with
Down syndrome has an extra copy of
chromosome 21, which means their cells
contain 47 total chromosomes instead of 46.
This changes the way their brain and body
develop. and lead congenital abnormality

4. A genetic chromosome 21 disorder
causing developmental and
intellectual delays.
According to Prof. Suresh K
According to Prof. Suresh K
Sharma,

5. Down's syndrome is a genetic
disorder caused when abnormal
cell division results in extra genetic
material from chromosome 21.
According to S.S. Randhawa

6. 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
material causes the developmental
changes and physical features of Down
syndrome.
According to Dr. Purnima S. Rao

7. According to K. Swaminathan

9. TYPES OF DOWN SYNDROME

10. TYPES OF DOWN SYNDROME
There are four types of Down syndrome:
1. Trisomy 21
2. Translocation Down syndrome.
2. Translocation Down syndrome.
3. Nondisjunction
4. Mosaicism Down syndrome.

11. 1. Trisomy 21
the most common form of Down's syndrome,
caused by an extra copy
of chromosome number 21. embryo with
three copies of chromosome 21 in somatic
cells.
2. Translocation
2. Translocation
Translocation as related to genetics, occurs
when a chromosome breaks and the (typically
two) fragmented pieces re-attach to
different chromosomes.

12. 3. Nondisjunction
It is the first meiotic Division of
gametogenesis and responsible for
trisomy 21 in most of patients .
Nondisjunction is the failure of the
Nondisjunction is the failure of the
chromosomes to separate, which
produces daughter cells with
abnormal numbers of chromosomes.

13. 4. Mosaicism
In this rare form of Down syndrome, a person
has only some cells with an extra copy of
chromosome 21. This mosaic of normal and
abnormal cells is caused by abnormal cell
division after fertilization. it can lead to disease
division after fertilization. it can lead to disease
that can be traced from the cellular level to
affected tissue, like skin, the brain, or other
organs. It is diagnosed when there is a mixture
of two types of cells. Some have the usual 46
chromosomes, and some have 47.

15. MATERNAL AGE
Factor that increases the risk for having a baby
with Down syndrome is the mother’s age.
Women who are 35 years or older when they
become pregnant are more likely to have a
pregnancy affected by Down syndrome.
TRANSLOCATION CHROMOSOME
Translocation, as related to genetics, occurs
when a chromosome breaks and the (typically
two) fragmented pieces re-attach to
different chromosomes.

16. OTHER FACTORS –
Increased incidence may be
associated with exposure of mother
to pesticides ,electromagnetic fields
to pesticides ,electromagnetic fields
,anesthetic drugs, alcohol and
caffeine.

17. CLINICAL FEATURES
CLINICAL FEATURES

18. PHYSICAL SIGNS OF DOWN SYNDROME
Physical signs of Down syndrome are usually
present at birth and become more apparent as
your baby grows. They can include:
A flat nose bridge.
Flat Face Slanted eyes curve eye that point
Flat Face Slanted eyes curve eye that point
upward. ( thus the name Mongolism )
A short neck.
Small ears, hands and feet.
Short stature
Loose joints

19. Weak muscle tone at birth.
Shorter-than-average height.
Broad short skulls with
Wide nostrils
Tiny white spots on the iris (colored part) of
the eye.
the eye.
Almond-shaped eyes
A tongue that tends to stick out of the
mouth.
Shorter in height as children and adults

20. OTHER PROBLEMS
Ear infections or hearing loss.
Vision problems or eye diseases.
Dental problems.
Dental problems.
Obstructive sleep apnea.
Congenital heart disease.

21. Cognitive symptoms of Down
syndrome-
This can cause intellectual or
developmental disabilities.
Short time attention.
Poor judgment.
Poor judgment.
Impulsive behavior.
Slow learning.
Delayed language and speech
development.

22. DOWN SYNDROME
DIAGNOSED BEFORE
BIRTH
BIRTH

23. DIAGNOSTIC TESTS DURING
PREGNANCY
Diagnostic tests during pregnancy can
confirm a Down syndrome diagnosis
AMNIOCENTESIS
Amniocentesis is a prenatal test that can
Amniocentesis is a prenatal test that can
diagnose genetic disorders (such as Down
syndrome and spina bifida) and other health
issues in a fetus. A provider uses a needle to
remove a small amount of amniotic fluid from
inside uterus, and then a lab tests the sample
for specific conditions

24. CHORIONIC VILLUS SAMPLING (CVS)
Chorionic Villus Sampling is a type of
prenatal testing. You may choose to undergo
this genetic testing during pregnancy to check
the fetus for health conditions like Down
syndrome. It also confirms sex.
syndrome. It also confirms sex.
Chorionic Villus Sampling chorionic villus
biopsy, is a prenatal test that involves taking a
sample of tissue from the placenta to test for
chromosomal abnormalities and certain other
genetic problems.

25. PERCUTANEOUS UMBILICAL BLOOD
SAMPLING (PUBS)
This quick test — also called
cordocentesis, fetal blood sampling,
or umbilical vein sampling — takes fetal
blood directly from the umbilical
blood directly from the umbilical
cord. It is done after the 20th week of
pregnancy. And to detect any
abnormality of fetus

26. KARYOTYPE TEST
Examines blood or body fluids for
abnormal chromosomes.
Chromosomes are the parts of our
cells that contain genes, It’s often
cells that contain genes, It’s often
used to detect genetic diseases in
the developing fetus.

28. Down Syndrome Treatments
There’s no specific treatment for Down syndrome. But
there is a wide range of physical and developmental
therapies designed to help people with Down
syndrome reach their full potential. Each child will
have different needs.
Physical, occupational, and speech therapy
Physical, occupational, and speech therapy
Specialized education services
Social and recreation activities
Programs that offer job training and teach self-care
skills

29. Down Syndrome Complications
Babies with Down syndrome may be born with other
physical problems, and they’re at higher risk for certain
health issues later in life.
Possible complications of Down syndrome include:
Heart problems. About half of babies with Down syndrome
Heart problems. About half of babies with Down syndrome
are born with a heart defect that may need surgery.
Hearing and vision problems, including
crossed eyes and cataracts
Gastrointestinal disorders, like blockages, reflux, and celiac
disease

30. Obesity
Breathing issues, including sleep
apnea, asthma, and pulmonary hypertension
Underactive thyroid
Underactive thyroid
Seizures
Childhood leukemia

31. Early-onset dementia
Dementia is a term used to describe a group
of symptoms affecting memory, thinking and
social abilities severely enough to interfere
social abilities severely enough to interfere
with your daily life.