Down Syndrome

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Down Syndrome

• A presentation by Richard Goode

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What is the definition of Down Syndrome?
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• Down syndrome, or Down's syndrome (primarily in
  the United Kingdom), Trisomy 21, or Trisomy G, is
  a chromosomal disorder caused by the presence of
  all or part of an extra 21st chromosome.
• It is named after John Langdon Down, the British
  physician who described the syndrome in 1866. The
  disorder was identified as a chromosome 21
  trisomy by Jerome Lejeune in 1959.
• The condition is characterized by a combination
  of major and minor differences in structure.
  Often Down syndrome is associated with some
  impairment of cognitive ability and physical
  growth, and a particular set of facial
  characteristics.
• Down syndrome in a foetus can be identified with
  amniocentesis during pregnancy or in a baby at
  birth. 1
• http//en.wikipedia.org/wiki/Down_syndrome

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What types of people does Down Syndrome
affect?
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• Down Syndrome (DS), also called Trisomy 21, is a
  condition in which extra genetic material causes
  delays in the way a child develops, both mentally
  and physically. It affects about 1 in every 800
  babies.
• Although no one knows for sure why Down Syndrome
  occurs and there's no way to prevent the
  chromosomal error that causes it, scientists do
  know that women age 35 and older have a
  significantly higher risk of having a child with
  the condition. At age 30, for example, a woman
  has about a 1 in 900 chance of conceiving a child
  with DS.
• Those odds increase to about 1 in 350 by age 35.
  By 40 the risk rises to about 1 in 100. 2
• http//kidshealth.org/parent/medical/genetic/down_
  syndrome.html

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What part or all of the body does this affect?
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While some kids with Down Syndrome have no
significant health problems, others may
experience a host of medical issues that require
extra care. For example, almost half of all
children born with DS will have a congenital
heart defect. Kids with Down syndrome are also
at an increased risk of developing pulmonary
hypertension, a serious condition that can lead
to irreversible damage to the lungs. All infants
with Down syndrome should be evaluated by a
paediatric cardiologist. Approximately half of
all kids with DS also have problems with hearing
and vision. Hearing loss can be related to fluid
build-up in the inner ear or to structural
problems of the ear itself. Vision problems
commonly include amblyopia (lazy eye), near or
farsightedness, and an increased risk of
cataracts.
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• Regular evaluations by an audiologist and an
  ophthalmologist are necessary to detect and
  correct any problems before they affect language
  and learning skills.
• Other medical conditions that may occur more
  frequently in kids with DS include thyroid
  problems, intestinal abnormalities, seizure
  disorders, respiratory problems, obesity, an
  increased susceptibility to infection, and a
  higher risk of childhood leukaemia.
• Upper neck abnormalities are sometimes found and
  should be evaluated by a physician (these can be
  detected by cervical spine X-rays). Fortunately,
  many of these conditions are treatable. 3
• http//kidshealth.org/parent/medical/genetic/down_
  syndrome.html

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What is the history of Down Syndrome?
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• Down syndrome has probably been around for as
  long as humans have been evolving. In fact
  trisomy 21 may have been a problem for primates
  for around 30-50 million years. 4
• It was first in the 1930s that Waardenburg and
  Bleyer suggested that it might be due to
  chromosomal abnormalities. In 1959 Jerome Lejeune
  and Patricia Jacobs, independently discovered the
  cause to be trisomy (triplication) of the 21st
  chromosome. Over the next three years other types
  of Down Syndrome due to translocation and were
  described. 5
• Down Syndrome was first described clinically by
  John Langdon Down in the British Medical Journal
  The Lancet in 1961. The condition before this was
  referred to as Mongolism (due to a similarity in
  some appearance with Mongoloid features) but this
  was considered offensive.
• The Government of Mongolia told the World Health
  Organisation in 1965 that they thought the
  descriptive term 'Mongolian Idiot' was derogatory
  to them. Down Syndrome was adopted as an official
  term for the condition. 6
• Chromosome Res. 1998 Jun6(4)263-8.
• Len Leshin, MD, FAAP DS-health.com
• http//clearlyexplained.com/culture/health/genetic
  /downsyndrome.html

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What are the characteristics Of Down Syndrome?
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• Hand and facial characteristics
• Flattened back of head
• Attractive Almond-shaped eyes, with one eye lid a
  little droopy
• Slightly flattened bridge across nose
• Smallish ears, positioned slightly lower on the
  head, with a small fold at the top of the ear
• Smallish mouth
• Slightly protruding tongue
• Horizontal crease in palm of hand
• Slightly shortened fingers
• The little finger curves inward
• Foot characteristics
• Slightly enlarged gap between big and second toes
• Slightly shortened toes
• Also, in the newborns that have to have
  open-heart surgery, a chest scar becomes a common
  Down Syndrome characteristic. 7

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(No Transcript)
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Legislation
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In Victoria, there are two laws that say how
people with Autism should be supported. These
are 1. The Victorian Charter of Human Rights
and Responsibilities 2006 2. The Disability Act
2006. You can read more about these laws on
the internet at www.dhs.vic.gov.au/disability
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Down Syndrome Support Groups in the Bendigo Area
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New Parent Support Regional families are offered
phone support from the Down Syndrome Victoria
office and can be put in contact with a family in
their area. Ongoing Support DSAVs Family
Support Team is available for 'not so new'
parents who may want to talk to someone about a
particular issue they may be facing with their
child (starting school, specific health issues,
adult support issues such as employment,
accommodation and life planning).
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Support Groups Provider Down Syndrome
Association of Victoria Contact 03 9486
9600 Name Jackie Getson Bendigo Silver
Contact Mytime Contact 0409 190 991 Name
Rebekah Meets in Bendigo Friday mornings
fortnightly Blokes Group Contact 0417 141
603 Name Thoral Meets in Bendigo 2nd Tuesdays of
the month in the evenings
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• Online Groups
• Facebook
• Yahoo Online Down syndrome chat group
• Yahoo Online Dual Diagnosis chat group
• Down Syndrome Down Under Forum
• Livewire.org.au
• RCN MyTime Forum
• For specific Family Support issues regarding
  0-18yrs contact Sue Blandford our Family Support
  and Training Coordinator or for information and
  support regarding adults with Down syndrome
  contact Lainy Henderson our Adult Support
  Coordinator on
• 1300 658 873. 8

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What is Down Syndrome?
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• Down Syndrome is a mutation of the chromosomes
  resulting in the presence of three copies of
  chromosome 21, instead of the normal pair.
• This results in mental retardation and slow
  physical development.
• Flattened facial features and a slight slanting
  of the eyes are characteristic of Down Syndrome
  people.

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How can we foster independence in people with
Down Syndrome?
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• By fostering the creativity of people with Down
  Syndrome
• By removing barriers and pushing boundaries
• By fostering early learning skills
• By encouraging them to develop friendships

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How can we provide independence for people
with Down Syndrome?
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• We can provide independence by
• Giving them access to education including
  special education facilities where deemed
  appropriate
• Health treatment
• Accommodation
• Treating the person, not the disability

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• Special Angel
• (Down Syndrome Birth)
• by Sandy Eakle
• As beautiful angels wings wereflying over the
  streets of gold,the baby angels could only
  watch since they weren't very old.
• Then one day God stopped to talk to a little one
  without wings, just listen to the angels sing".
• Confused yet excited the littleone said to the
  Lord, "But I'm different from the others God
  and not a miracle to behold".
• "Oh, but yes you are," He said with a hug and
  smile on his face. "You're the greatest gift I
  can give and a loving home you will grace".
• You mean, tho I'm different and will never be
  beautiful or smart Someone will want me and give
  me a place in their heart?"
• "Gee God.....that person must bespecial to be
  glad to have me,Cause most folks would frownand
  upset they would be."
• God said, "your little heart was filled with
  more love than most. Cause I knew this family
  would love you and hold you real close.
• So go my little angel and take the greatest gift
  I can bestow. You're that "special" angel few
  people have the honour to know."
• by Sandy Eakle

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THE END
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THE END