Transcript Slide 1

Quick Guide to Down Syndrome
Brought to you by:
www.DownSyndromeEgypt.com
Egypt’s Online Down Syndrome Community
Contents
• What is Down Syndrome?
• Diagnosis
• DS Facts
• Important to Know
• Success Stories
• Down Syndrome Egypt Mission
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What is Down Syndrome?
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What is Down Syndrome?
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Common genetic disorder / chromosomal abnormality
Individuals with Down syndrome have 47 chromosomes instead of the usual 46
Occurs when there are 3 copies of chromosome 21
Causes delays in physical and intellectual development
Occurring in 1/800 live newborns
It is known that the error occurs at conception, It is not known why this occurs!
Risk of Down Syndrome increases with age of mother
Born to parents of all ages but greater risk for women 35 years and older
However 80% of children with Down syndrome are born to women under 35 years of age!
50% of babies with down syndrome have congenital heart disease
Airway and hearing problems
Described by John Landon Down in 1866
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Down syndrome is not related to race, nationality, religion or socioeconomic status
Down syndrome is not related to anything the mother did during pregnancy
The most important fact to know about individuals with Down syndrome is that they
are more like others than they are different.
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Types of Down Syndrome
There are 3 chromosomal patterns that result in Down syndrome:
1.
Trisomy 21 (most common)
2.
Translocation (3% to 4%)
3.
Mosaicism (1% to 2%)
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Regardless of the type of Down syndrome, a critical portion of the
21st chromosome is present in all or some of their cells
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This additional genetic material alters the course of development
and causes the characteristics associated with the syndrome
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1. Trisomy 21
Individuals with regular Trisomy 21 have an extra
chromosome 21 in every cell. They therefore have 47
chromosomes in each cell instead of the usual 46.
It occurs because of an unusual cell division which has
produced either an egg or a sperm with 24 chromosome
instead of 23. When this egg or sperm fuses with an
ordinary egg or sperm, the first cell of the developing baby
has 47 chromosomes instead of 46 and all that babies cells
will have 47 chromosomes
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2. Translocation
They do not have an extra whole separate
chromosome separate chromosome 21, but have
an additional part of chromosome 21 attached to
another chromosome. This usually arises when the
small arms of chromosome 21 and another
chromosome break and the 2 remaining long arms
join together at their exposed ends. It is known by
that name because the chromosomes method has
transferred its location
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3. Mosaicism
Have an extra chromosome 21 in only some of
their cells. They therefore have a mixture of
trisomic cells and ordinary cells. The mixture can
very from very few to nearly 100% trisomic cells
depending on the proportion of trisomic cells, and
which part of the body contain these cells
individuals may be less affected both in their
physical features and in their ability level than
those with regular trisomy or translocation
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Diagnosis
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Diagnosis
2 types:
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For Pregnant women
2.
For newly borns
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Diagnosis – Pregnant Women
Two types of procedures are available to pregnant women:
1. Screening tests:
estimate the risk of the baby having Down
syndrome.
2. Diagnostic tests:
tell whether or not the baby actually has
Down syndrome.
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Diagnosis – Newly Born
Usually identified at birth or shortly thereafter
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Physical Characteristics:
The initial diagnosis is based on physical characteristics
that are commonly seen in babies with Down syndrome,
these include:
• low muscle tone
• a single crease across the palm of the hand
• a slightly flattened facial profile and an upward slant
to the eyes
2. Karyotype:
The diagnosis must be confirmed by a chromosome
study (karyotype). A karyotype provides a visual display
of the chromosomes grouped by their size, number and
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shape.
Down Syndrome Facts
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Health Issues
• Health complications beyond the usual childhood
illnesses
• Approximately 40% of the children have congenital
heart defects
• It is very important that an echocardiogram be
performed on all newborns with Down syndrome in
order to identify any serious cardiac problems that might
be present
• Some of the heart conditions require surgery while
others only require careful monitoring
• Children with Down syndrome have a higher incidence
of infection, respiratory, vision and hearing problems as
well as thyroid and other medical conditions. However,
with appropriate medical care most children and adults
with Down syndrome can lead healthy lives
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Sensory Problems
Strabismus, Myopia ,Hyperopia, excessive
tearing, head tilt, cataracts
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Physical Disorders
Respiratory infections
Leukemia is 10 to 30 times more frequent
Thyroid dysfunction
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Airway Concerns
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Midface hypoplasia
OSA in up to 50%
Adenotonsillectomy often insufficient
Subglottic narrowing, smaller trachea
Atlantoaxial instability in up to 20%
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Hearing Concerns
• Congenital and Acquired, overall high incidence
• Conductive hearing loss
– more common
– small pinna, stenotic EAC, eustachian tube
dysfunction, ossicular fixation
• Sensorineural hearing loss
– less common
– ossification of basal spiral tract, temporal bone
anomalies
• Management:
ventilation tubes,
frequent exams,
and hearing aids as necessary
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Prognosis
Life expectancy for a one year old - 76% for child
with Downs, 91% without
Life expectancy for a 20 year old - 53% with, 82%
without
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Intelligence
This varies from severely retarded to low normal
intelligence but is generally within the moderate
range
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Social Development
May be 2 to 3 years beyond the mental age,
especially during early childhood
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Therapy
Doses of vitamins and minerals
Surgery
Drugs and thyroid hormones
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Important to Know
• It is important to remember that while children and
adults with Down syndrome experience
developmental delays, they also have many talents
and gifts and should be given the opportunity and
encouragement to develop them
• Early Intervention services should be provided
shortly after birth. These services should include
physical, speech and developmental therapies. Most
children attend their neighborhood schools, some in
regular classes and others in special education
classes. Some children have more significant needs
and require a more specialized program
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Important to Know (cont’d)
• Some high school graduates with Down syndrome
participate in post-secondary education. Many
adults with Down syndrome are capable of working
in the community, but some require a more
structured environment
• Moral support, love & caring definitely enhance
their case greatly
• With YOUR help & little care,
they can blend in to our community
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Important to Know (cont’d)
"It is a blessing and a gift to be a parent,
sibling, relative or even a friend to a
person with Down’s syndrome"
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Success Stories
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Success Story 1
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Dina Galal
Professional musician
Pianist
Age: 35
Plays piano at the Egyptian
opera house
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Success Story 2
• Chris Burke - www.chrisburke.org
• Actor
• Is one of Americans favorite
personalities
• Through his work he has singlehandedly transformed America's
image of the mentally and
physically handicapped
• Chris is also a spokesperson for the
National Down Syndrome Society
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Funny Story
By Professor Jerome Lejeune, Nobel Prize Winner, Discoverer of
the gene for Down syndrome:
"Many years ago, my father was a Jewish physician in
Braunau, Austria. On a particular day, two babies had
been delivered by one of his colleagues. One was a
fine, healthy boy with a strong cry. His parents were
extremely proud and happy. The other was a little girl,
but her parents were extremely sad, for she was a
mongoloid [Down syndrome] baby. I followed them
both for almost fifty years. The girl grew up, living at
home, and was finally destined to be the one who
nursed her mother through a very long and
lingering illness after a stroke. I do not remember
her name. I do, however, remember the boy's name.
He died in a bunker in Berlin. His name was Adolf
Hitler."
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A Prayer from a 14yr old
John Paul Gower is a 14 year old boy with Down
syndrome, this prayer was originally published in the
Catholic Herald
Thank you God for making me like I am.
I don't mind having Down's Syndrome.
Thank you for my family who love and spoil me.
Thank you for helping me beat most people at
Nintendo, especially Dad!
Thank you for all the exciting things I do like going to
the cinema, theatre, concerts, Alton Towers and
McDonalds.
In the next millennium please help all people with
handicaps to be as happy as me.
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Mission / Vision
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DownSyndromeEgypt.com Mission
The mission of DownSyndromeEgypt.com is to build
Egypt’s Downsyndrome online community to enable &
ensure that all persons with Down syndrome have the
opportunity to achieve their potential in all aspects of
community life.
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Parent-to-Parent Network
Discussion groups
Community Support Groups
Parent Support
Education for Healthcare
Public Awareness
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Share your thoughts,
Meet us there …
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Egypt’s Online Down Syndrome Community
With your understanding & support
THEY WILL ACHIEVE
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Thank You !
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