Down

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Downs Syndrome

• By Bailey Mulford and
• Rachel Lanaghen

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OVERVIEW

• Downs syndrome, named after Dr. John Langdon
  Down, is a chromosomal disorder. It is caused
  due to trisomy, the presence of an extra copy, of
  the 21st chromosome.

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PHYSICAL SYMPTOMS

• Typically have a very round face
• Almond-shaped eyes
• Brushfield spots (white spots on the iris)
• Flat bridge of the nose
• Protruding tongue due to a small oral cavity and
  enlarged tongue)
• Shorter neck
• Congenital heart defects
• Large space between the big toe and second toe
• Muscle hypotonia (poor muscle tone)
• Most exhibit mild to moderate mental retardation

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INHERITANCE

• Downs is inherited one of three ways
• Non-disjunction (95) during meiosis, a gamete
  ends up with 24 chromosomes rather than the usual
  23
• Translocation (3-4) where one of the parents
  has chromosome 21 attached to another chromosome,
  usually chromosome 14
• Mitotic Errors (lt3) in early development of
  the fetus, the chromosome 21 pair fails to
  separate in anaphase

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STATISTICS

• Downs Syndrome is estimated to be anywhere from
  1 in 800 to 1 in 1000
• As of 2006, the estimate was 1 in 733 live births
• Maternal age has a strong influence on if the
  baby has a third copy of chromosome 21. As shown
  in the graph to the right, as the age of the
  mother increases, the instances with Downs
  increases accordingly.

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PROGNOSIS AND TREATMENT

• Downs Syndrome can be detected through a number
  of prenatal screening techniques including
• Amniocentesis- sample of amniotic fluid
• Chronice villus sampling (CVS)
• Percutaneous umbilical blood sampling (PUBS)
• Triple screen- measures protein and hormone
  levels
• Quad screen- measures protein and hormone levels
• AFP/free beta screen- measures protein levels
• PAPPA screen- uses ultrasound that measures
  protein levels
• These tests are 90-95 accurate with 2-5 false
  positives.
• At present, there are no cures or treatment for
  Downs Syndrome. However, many of the symptoms
  such as congenital heart failure may be treated
  with various medications.

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LIFE EXPECTANCY

• Individuals with Downs Syndrome have a slightly
  higher morbidity rate due to impaired immune
  responses, increase in congenital heart disease,
  and airway obstructions. The estimated lifespan
  is 49 years, which is a dramatic increase from
  the 24 years of age in 1980.
• 75 die in embryonic or fetal life
• 15 die within the first year after their birth
• 50 live past 50 years of age

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LIVING WITH DOWNS SYNDROME

• From the early 20th century through the 1960s
  many people with down syndrome were put into
  institutions, largely excluded from the rest of
  society.
• Now that scientists and doctors better
  understand this disorder a more humane policy of
  inclusion has been initiated.

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Inclusion

• Inclusion is a strategy that works at meeting
  the needs of people with down syndrome as much as
  possible in public education and developmental
  institutions. There are many academic and social
  benefits for both students with the disorder and
  students without it when they are given the
  opportunity to learn and grow together.
• New Friendships
• Non-disabled students are more appreciative of
  differences
• Students with disabilities are more motivated
  when they are pushed to their potential like any
  other person

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LIVING WITH DOWN SYNDROME

• Today
• Most children with down syndrome go to public
  school and participate in many of the same
  activities as non-disabled students (although
  some do perform better in specialized programs)
• Many go to college
• Many live in semi-independent housing and hold
  jobs
• The National Down Syndrome Society is trying to
  expand post secondary opportunities by developing
  a model school/program especially fitted for
  people with down syndrome.
• Their fertility is significantly decreased (only
  3 recorded fathers in history) and there is no
  evidence to support that this a hereditary
  disorder.
• Most people with this disorder live happy,
  rewarding lives. Gradually mainstream society is
  beginning to understand the unique and
  contributions and talents they have.

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Resources

• Local support groups and instructional programs
  for new parents and relatives can be found
  through these national organizations
• National Down Syndrome Congress
  www.ndsscenter.org
• National Association for Down Syndrome
  www.nads.org
• National Down Syndrome Society
• www.ndss.org
• Band of Angels Foundation www.bandofangels.com

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WORKS CITED

• Downs Syndrome, Wikipedia, http//en.wikipedia.
  org/wiki/Down27s_sydrome
• Downs Syndrome, BioZone, pg.203
• Down Syndrome eMedicine http//emedicine.com/ped
  /topic615.htm