GROUP 1 PRESENTS

Trisomy 21:
Understanding
of the Disease
Down Sydrome
What is
our Goal?
The purpose of this presentation is:

To provide insight about Down Syndrome and

highlight the importance of Trisomy 21 studies or
researches.
 At the end of the topic, the group
are expecting that learners would
be able to:
Recognize the symptoms, indicators and
facts about Down Syndrome;
Determine whether people with Down

Our Agenda Syndrome are at a higher or lower risk of

developing ailment;

for Today Contribute awareness concerning

developmental challenges that can occur
among people with Down Syndrome;
To enhance the quality of life of individuals
with Down Syndrome; and
To encourage people to support the new
strategies for raising awareness of the
problems that affect people with Trisomy
21.
 What is Down
Syndrome or Trisomy
21?

 Introduction
Down syndrome is a genetic disorder that can lead
to minor to severe physical and developmental
issues. Down syndrome patients are born with an
extra chromosome. The appropriate number of
chromosomes, which are collections of genes, are
essential for your body to function.
With Down syndrome, this extra chromosome causes
a variety of problems that have an impact on your
physical and mental health. It takes a lifetime to deal
with down syndrome. Despite the fact that disease
cannot be cured, doctors today understand it better
than ever.
Early diagnosis and treatment for individual with
Down Syndrome can significantly improve their
chances of leading a fulfilling life.
 Group 1

Etiology &
Pathophysiology
Trisomy 21: An Understanding of the Disease


Etiology &
Pathophysiology
Nondisjunction, a mistake in cell division, is
frequently the cause of Down syndrome:
One pair does not divide during meiosis; the
entire pair enters a single daughter cell.
One of the resultant cells will contain 24
chromosomes, while the other will contain 22.
As a result, when a sperm or egg with an
abnormal number of chromosomes mates
with a normal partner, the resulting fertilized
egg will have an abnormal number of
chromosomes.
In Trisomy 21, it results in one cell having two 21
chromosomes rather than one, resulting in a
fertilized egg with three 21 chromosomes.

Types of Down Syndrome

Types of Down Syndrome
Trisomy 21 (95%): The extra 21 chromosome (three instead of
the usual two) produces a complement of 47 chromosomes.

Translocation (3-4%): A segment of a 21 chromosome is found

attached to other pairs of chromosomes.

Mosaicism (1-2%): Nondisjunction occurs at a later stage of

cell division, therefore, some cells have the normal
complement of 46 chromosomes and other cells 47
chromosomes (with an extra 21 chromosome.
Risk Factors
Older Pregnant Woman
Women who are 35 years or older are at the greatest risk for giving birth to an
infant with Down Syndrome.
35 years old: 1/400 live births
> 40 years old: 1/110 live births

Social History
According to the Centers for Disease Control and Prevention (CDC), younger
mothers (<35years) who smoke, use oral contraceptives, and have a Meiotic II
error are at an increased risk as well.

Despite many years of research, advanced maternal age

has been the only factor that is well established with Down
Syndrome.
Clinical Manifestations (Physical)
Eyes shaped like almonds (may be shaped in a way
that’s not typical for their ethnic group)
Flatter faces, especially the nose
Small ears, which may fold over a bit at the top
Tiny white spots in the colored part of their eyes
A tongue that sticks out of the mouth
A crease that runs across the palm of the hand
Short fingers
Small pinkies that curve toward the thumbs
Low muscle tone
Loose joints, making them very flexible
Short height, both as children and adults
Short neck, small head
Clinical Manifestation
Mental Symptoms

The cognitive, logical, social, and intellectual abilities of people with down syndrome are also
impacted. The consequences are minor to moderate. It frequently takes longer for children with Down
syndrome to accomplish significant milestones like walking, talking, and crawling. As they grow older,
it could take longer for them to independently dress and use the restroom. Additionally, kids might
require additional assistance in school with subjects like learning to read and write as well as
directions.
Some people also struggle with their behavior; they may not pay attention well or exhibit compulsive
tendencies. That's because when they're angry, it's more difficult for them to restrain their emotions,
interact with other people, and manage their impulses.
While people with Down syndrome may learn to make many decisions on their own as adults, they
will probably require assistance with more complicated decisions like how to use birth control or
manage their finances. Others will require more daily care, while some may attend a college that can
offer accommodations and adaptations catered to intellectual and developmental impairments and
go on to live independently.
Health Conditions of Individual with
Down Syndrome

Hearing Heart Obstructive Problems

Loss Problems Sleep Apnea Seeing

Many have About half of all This is a treatable

About half of eople
problems hearing babies with Down condition where
with Down
in one or oth ears, Syndrome have breathing stops
Syndrome have
which is problems with their and restarts many
trouble with their
sometimes related heart's shape or times while
eyesight.
to fluid buildup. how it works. sleeping.
Health Conditions of Individual with
Down Syndrome

Blood Shorter
Dementia Infections
Conditions Life span

such as anemia, This is an illness

People with Down More likely to be
where you have where you lose
Syndrome may get very overweight
low iron. It's not memory and
sick more often and have thyroid
common, but they mental skills, Signs
because they tend issues, blockages
also have a higher and symptoms
to have weaker in their intestines
chance of getting often start around
immune systems. and skin problem.
leukemia. age 50.
 Down Syndrome Treatments

Help in
Treatment is School
Down
directed at
Syndrome is This helps make sure
addressing the your child gets
not a condition
individual support that suits
that can be their needs. It may
concerns
cured. include things like
Timely surgeries and working with a

screenings. reading specialist or

speech therapist.
 Early Interventions
Programs, Economic Support, etc.

Most states have programs that offer a variety of services to kids up to age three. The
physical and mental development of your child can be aided by these programs:

Feed & Dress Roll over, crawl, Think and solve Talk, listen and
themselves and walk problems understand others
Proclamation No. 157
National Council of Disability Affair
WHEREAS, the Republic of the Philippines recognizes that disabled children have the right
to special care, education and training to help them enjoy full and decent lives in dignity
and achieve the greatest degree of self-reliance and social integration possible (Art. 23,
Paragraph 1. The U.N. Convention on the Rights of the Child);
WHEREAS, there are now hundreds of thousands of Filipino children with Down Syndrome,
who are invariably suffering from genetic mental, physiological and physical disabilities;
WHEREAS, children with Down syndrome deserve the dignity and respect from everyone
and need the State’s mantle of protection against abuse, violence and public Indifference;
WHEREAS, nationwide awareness of the Down Syndrome condition will immensely help in
educating the public on the great potential that children with Down Syndrome possess to
live normal lives.

Managing a Child with

Down Syndrome / Trisomy 21

Let the child make Allow them to take Support them in solving Avoid unmotivating
choices when it makes reasonable risks. problems. them.
sense to.
This is a challenge every like how to deal with an issue Avoid saying “That’s wrong” to
This can be as simple as parent faces. You need to with friends or approach a correct mistakes. Instead, say,
letting them choose what protect your children, but problem at school. You don’t “Try it again.” Offer help if it’s
clothes to wear. also let them see what they have to fix it for them, but needed.
can handle. help them do it themselves.
 Delayed Growth and
Development r/t impaired
ability to achieve
developmental tasks

Self-care deficit: Bathing 7

Nursing Hygiene, dressing, feeding,
Interventions toileting r/t cognitive
impairment

Impaired Verbal
Communication r/t
impaired receptive or
expressive skills
Prevention and
Education
for having a family member
with Down Syndrome
 1. Teach family how to
prevent physical
complications

Prevention & 2. Advise parents to seek

regular checkups for
Education their child.

3. Identify and refer

child/parents to
support groups
 4. Early Intervention is the
key

Prevention & 5. Cooperate with different

therapies for the child.
Education

3. Join with the special

education programs.
 Marie Cel M. Padua
Leader

The
Group 1 Nursalin Abdulmajid
Member
Student Nurses of St. Jude
College

Joann Hinoguin
Member
 Rica S. Monajan
Member

The
Group 1 Kimberly M. Ortinez
Member
Student Nurses of St. Jude
College

Darlene Kate G. Pascua

Member
 Jovin Sagales
Member

The
Group 1 C-Jay Villanueva
Member
Student Nurses of St. Jude
College

Hannah Jane ybanez

Member
The
Group 1 Liane Mari Zabale
Member
Student Nurses of St. Jude
College
References
Alli, R., 2021, WebMd, Down Syndrome,
https://www.webmd.com/children/parenting-
child-downs-syndrome
Lecturio Medical, 2021, Etiology and Pathophysiology
https://www.youtube.com/results?
search_query=pathophysiology+of+trisomy+21