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Group 03 Presentation

in Science
Down
Syndrome
Members :

Jam Lojo Charlaine Pangilinan Jamae Isidro

Peter Soria James Manalo


What is Down
Syndrome?
Down syndrome is a genetic disorder characterized
by an extra copy of chromosome 21, resulting in
physical and intellectual disabilities. It is one of the
most common chromosomal abnormalities,
occurring in about 1 in every 700 pregnancies.
People with Down syndrome may have distinct
physical features, such as a flat face, small stature,
and low muscle tone. They may also experience
developmental delays, learning difficulties, and
intellectual disabilities, although the severity can
vary widely among individuals. Other common
health issues associated with Down syndrome
include congenital heart defects, hearing and vision
problems, and increased susceptibility to infections.
People with Down
syndrome are at a higher
risk of developing several
endocrine disorders. Here
are some of the most
common ones:
1. Hypothyroidism :
This is the most common endocrine problem in both
children and adults with Down syndrome. Some
children have it at birth (congenital), while others
may develop it later in life (acquired).
Hypothyroidism can lead to symptoms like tiredness
and slowed growth.
Here are some
Hypothyroidism's Symptoms
you need to know :

Lack of focus Weak Bones Poor Vision


Poor Memory Slow Heartbeat Hair Thinning
Depression High Cholesterol Puffiness in Eyes
Mood Swings Muscle Crumps Hair Fall
2. Diabetes Mellitus:

People with Down syndrome are also


at a higher risk of developing diabetes,
particularly type 1 diabetes, compared
to the general population.
3. Obesity

Obesity is more common in individuals


with Down syndrome than in the
general population. This can increase
the risk of other health problems,
including diabetes and heart diseases.
4. Short Stature :

People with Down syndrome often have


a shorter stature than their peers. This
is not a disorder in itself, but it can be
associated with other endocrine issues.
5. Vitamin D Deficiency and Low Bone
Mineral Density :

These conditions are common in


people with Down syndrome and can
lead to bone health issues.
6. Gonadal
Dysfunction :
This refers to any disorder of the sexual
organs, or gonads. In males with Down
syndrome, this can include delayed or
incomplete puberty and reduced fertility. In
females, menstrual irregularities and early
menopause are more common.
INDIVIDUALS WITH DOWN SYNDROME OFTEN SHARE CERTAIN
PHYSICAL FEATURES. THOUGH THESE FEATURES CAN BE PRESENT
IN DIFFERENT COMBINATIONS AND DEGREES, SOME OF THE
COMMON PHYSICAL CHARACTERISTICS INCLUDE:

1. A round face with a flat profile and small nose


2. Upturned eyes with a unique fold of skin (epicanthic fold)
on the inner corner, creating what is described as an almond
shape
3. Short, stocky build
4. Short neck with excess skin at the back
5. Single, deep crease across the center of the palm
INDIVIDUALS WITH DOWN SYNDROME OFTEN SHARE CERTAIN
PHYSICAL FEATURES. THOUGH THESE FEATURES CAN BE PRESENT
IN DIFFERENT COMBINATIONS AND DEGREES, SOME OF THE
COMMON PHYSICAL CHARACTERISTICS INCLUDE:

6. Short fingers and a fifth finger (pinky) that curves inward


(clinodactyly)
7. Straight, fine, and thin hair
8. Small ears
9. Small mouth, which makes the tongue appear large
10. Low muscle tone (hypotonia)
what gland is associated
with Down Syndrome?
The thyroid gland is most commonly
associated with Down syndrome.
Individuals with Down syndrome are at an
increased risk of endocrine abnormalities,
particularly thyroid gland disorders. These
can include transient and primary
hypothyroidism, pituitary-hypothalamic
hypothyroidism, thyroxin-binding globulin
(TBG) deficiency, and chronic lymphocytic
thyroiditis. Hyperthyroidism also occurs
occasionally.
Conclusions
With early intervention programs, education, and
support, individuals with Down syndrome can
lead fulfilling lives and participate in various
activities. The life expectancy for people with
Down syndrome has significantly improved over
the years, with many individuals now living into
their 60s and beyond. Overall, it is important to
recognize and promote inclusivity and support
for people with Down syndrome to ensure they
have equal opportunities and rights.
Thank you
for
listening!

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