DOWN SYNDROME.pdf

OM VERMA
ASSOCIATE PROFESSOR
GRACIOUS COLLEGE OF NURSING ABHANPUR RAIPUR C.G

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

2. INTRODUCTION
DownsyndromeisalsoreferredtoasTrisomy
21.Downsyndromeis a geneticcondition
wherepeopleareat thebirthwithan
extra
chromosome
.Mostpeoplehave23pairs
of
chromosomes
within
each
cell
in
their
body,
of
chromosomes
within
each
cell
in
their
body,
for a total of 46. A persondiagnosedwith
Downsyndromehas anextracopyof
chromosome21, whichmeans theircells
contain47totalchromosomesinsteadof46.
This changes thewaytheir brainandbody
develop.andleadcongenitalabnormality

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. PurnimaS. Rao

7. According to K. Swaminathan

9. TYPES OF DOWN SYNDROME

10. TYPES OF DOWN SYNDROME
There are four types of Down syndrome :
1.Trisomy21
2.
Translocation Down syndrome
.
2.
Translocation Down syndrome
.
3.Nondisjunction
4.MosaicismDown syndrome.

11. 1. Trisomy21 the most common form of Down's syndrome,
caused by an extra copy
ofchromosome
number 21.embryo with
three copies
of chromosome 21 in somatic
cells.
2. Translocation 2. Translocation Translocation as related to genetics, occurs
when achromosomebreaks and the (typically
two) fragmented pieces re -attach to
differentchromosomes.

12. 3. Nondisjunction It is the first meiotic Division of
gametogenesisand responsible for
trisomy21 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 achromosomebreaks and the (typically
two) fragmented pieces re -attach to
differentchromosomes.

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 VillusSampling 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 VillusSampling chorionic villus
biopsy, isa 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)
Thisquicktest — alsocalled cordocentesis,
fetalbloodsampling,
orumbilicalveinsampling—takesfetal
blood
directly
from
the
umbilical
blood
directly
from
the
umbilical
cord. Itisdoneafterthe20thweekof
pregnancy. Andtodetect any
abnormalityoffetus

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. Bu t
there is a wide range of physical and developmental
therapies designed to help people with Down
syndrome reach their full potential. Each child wil l
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-car e
skills

29. Down Syndrome Complications
Babies with Down syndrome may be born with other
physical problems, and they’re at higher risk for ce rtain
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, an d
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 isa 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.