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Quick Guide to Down Syndrome


Individuals with Down syndrome have 47 chromosomes instead of the usual 46 ... Risk of Down Syndrome increases with age of mother ... – PowerPoint PPT presentation

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Title: Quick Guide to Down Syndrome

Quick Guide to Down Syndrome
  • Brought to you by
  • www.DownSyndromeEgypt.com
  • Egypts Online Down Syndrome Community

  • What is Down Syndrome?
  • Diagnosis
  • DS Facts
  • Important to Know
  • Success Stories
  • Down Syndrome Egypt Mission

What is Down Syndrome?
What is Down Syndrome?
  • 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
  • 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
  • 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
  • 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
  • Trisomy 21 (most common)
  • Translocation (3 to 4)
  • Mosaicism (1 to 2)
  • Regardless of the type of Down syndrome, a
    critical portion of the 21st chromosome is
    present in all or some of their cells
  • This additional genetic material alters the
    course of development and causes the
    characteristics associated with the syndrome

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
  • 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

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

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

  • 2 types
  • For Pregnant women
  • For newly borns

Diagnosis Pregnant Women
  • Two types of procedures are available to pregnant
  • Screening tests
  • estimate the risk of the baby having Down
  • Diagnostic tests
  • tell whether or not the baby actually has Down

Diagnosis Newly Born
  • Usually identified at birth or shortly thereafter
  • 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
  • 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 shape.

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Down Syndrome Facts
Health Issues
  • Health complications beyond the usual childhood
  • 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

Sensory Problems Strabismus, Myopia ,Hyperopia,
excessive tearing, head tilt, cataracts
Physical Disorders Respiratory
infections Leukemia is 10 to 30 times more
frequent Thyroid dysfunction
Airway Concerns
  • Midface hypoplasia
  • OSA in up to 50
  • Adenotonsillectomy often insufficient
  • Subglottic narrowing, smaller trachea
  • Atlantoaxial instability in up to 20

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
  • Management
  • ventilation tubes,
  • frequent exams,
  • and hearing aids as necessary

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
Intelligence This varies from severely retarded
to low normal intelligence but is generally
within the moderate range
Social Development May be 2 to 3 years beyond
the mental age, especially during early childhood
Therapy Doses of vitamins and minerals Surgery Dr
ugs and thyroid hormones
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

Important to Know (contd)
  • 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

Important to Know (contd)
  • "It is a blessing and a gift to be a parent,
    sibling, relative or even a friend to a person
    with Downs syndrome"

Success Stories
Success Story 1
  • Dina Galal
  • Professional musician
  • Pianist
  • Age 35
  • Plays piano at the Egyptian opera house

Success Story 2
  • Chris Burke - www.chrisburke.org
  • Actor
  • Is one of Americans favorite personalities
  • Through his work he has single-handedly
    transformed America's image of the mentally and
    physically handicapped
  • Chris is also a spokesperson for the National
    Down Syndrome Society

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."

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.

DownSyndromeEgypt.comMission / Vision
DownSyndromeEgypt.com Mission
  • The mission of DownSyndromeEgypt.com is to build
    Egypts 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.
  • Parent-to-Parent Network
  • Discussion groups
  • Community Support Groups
  • Parent Support
  • Education for Healthcare
  • Public Awareness

Share your thoughts, Meet us there
www.DownSyndromeEgypt.com Egypts Online Down
Syndrome Community
With your understanding supportTHEY WILL
Thank You !
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