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Down Syndrome

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Down syndrome, also known as Trisomy 21, is a chromosome abnormality usually due ... obstruction of the esophagus (esophageal atresia) or duodenum and less often ... – PowerPoint PPT presentation

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Title: Down Syndrome


1
Down Syndrome
  • Online Health
  • Period 1- Andy Deihm
  • Virtual- Maggie Deihm

2
Definition
  • Down syndrome, also known as Trisomy 21, is a
    chromosome abnormality usually due to an extra
    copy of the 21st chromosome and usually resulting
    in mental retardation and other abnormalities.

3
Getting Familiar
  • Down Syndrome is a genetic disorder that occurs
    at conception.
  • It usually causes delays and limitations in
    physical and intellectual development.

4
Physical Characteristics
  • Their heads are smaller than normal (this is
    called microcephaly) and abnormally shaped.
  • Prominent facial features include a flattened
    nose, protruding tongue, and upward slanting
    eyes.
  • The inner corner of the eyes may have a rounded
    fold of skin (epicanthal fold) rather than coming
    to a point.
  • The hands are short and broad with short fingers
    and often have a single crease in the palm.
  • Retardation of normal growth and development is
    typical and most affected children never reach
    average adult height.

5
Facts
  • Down Syndrome was first discovered in 1866 by a
    man named John Langdon Haydon.
  • Just as is in the general population, there is a
    wide variation in mental abilities, behavior and
    physical development in individuals with Down
    Syndrome.
  • The incidence of Down Syndrome in the general
    population is one in every 650-750 live births.
  • Women under 35 years of age give birth to more
    than 80 of children with Down Syndrome.
  • Approximately 30-40 of individuals with Down
    Syndrome are born with heart defects and some
    have other congenital anomolies. Most of these
    defects are now correctable by surgery.

6
Symptoms
  • Decreased muscle tone at birth
  • Sutures - separated
  • Asymmetrical or odd-shaped skull
  • -Round head with flat area at the back of the
    head (occiput)
  • -Small skull (microcephaly)
  • Upward slanting eyes, unusual for ethnic group
  • Small mouth with protruding tongue
  • Broad short hands
  • Single crease on the palm
  • Retarded growth or development
  • Delayed mental and social skills
  • Iris lesion (an abnormality of the colored part
    of the eye, called Brush field spots)



7
Signs at birth
  • A heart murmur may be revealed by listening to
    the chest with a stethoscope (auscultation).
    Characteristic abnormalities are revealed by a
    physical examination. These include a flattened
    facial profile, small ears, separation of the
    abdominal muscles, joint hyperflexibility,
    awkward gait, extra skin on back of neck at
    birth, and an abnormal bone in the middle of the
    5th finger.
  • Early and massive vomiting may indicate
    obstruction of the esophagus (esophageal atresia)
    or duodenum and less often lower segments of the
    gastrointestinal tract.  This is sometimes
    discovered by inability at birth to pass a tube
    from the nose into the stomach or duodenum as
    well as by special X-rays. 

8
Pictures
9
Supportive Organizations
  • Annie Forts UP Syndrome Fund - non-profit fund
    assisting in education and assistance to
    individuals with Down Syndrome and supporting the
    study of treatment and rehabilitation.
  • Down's Syndrome Research Foundation Ltd -
    initiates medical research projects to improve
    the outcome for children with trisomy 21.
  • UPSIDE! Down Syndrome Society - group of
    individuals, families, and friends involved with
    Down Syndrome.
  • Karen Gaffney Foundation (Down Syndrome
    Education) - championing the journey to full
    inclusion for people with Down Syndrom in
    schools, the workplace and communities.
  • National Association for Down Syndrome (NADS) -
    news, resources, and scientific information
    related to down syndrome from NADS, a
    not-for-profit organization serving people in the
    Chicago metropolitan area.
  • Tidewater Down Syndrome Association - provides
    information and links.
  • Canadian Down Syndrome Society - information on
    Down syndrome and CDSS, a list of parent support
    groups across Canada, resources and links to
    other sites.
  • Down's Syndrome Association_at_
  • Trisomy 21 Foundation of Northern New York -
    mission is to improve the quality of life of
    adults and children with Down's Syndrome through
    education, funding, and research.
  • Indiana Down Syndrome Foundation - an
    organization dedicated to raising awareness for
    people with this disorder and to provide
    information and support.
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