Down Syndrome

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Down Syndrome

• Presented by
• Hilary Burneka
• Deanna Dwyer
• Kim Griebel
• Angela Michael
• Heather Weiler

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History
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• 1866 - John Langdon Down
• Mongoloids
• 1930s - Waardenburg and Bleyer
• 1959 - Lejeune and Jacobs

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• 1960s - Ethnic insult
• 1960s - Downs Syndrome
• 1970s - Down Syndrome

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Definition
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What is Down Syndrome?

• Chromosomal condition associated with mental
  retardation
• Result of 47 chromosomes instead of the usual 46
  chromosomes
• Extra chromosome 21 material

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Types of Down Syndrome
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Trisomy 21

• Also called non-disjunction
• Entire extra 21 chromosome in all cells
• 95 of individuals with Down syndrome

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Mosaic Trisomy 21

• Two populations of cells
• The trisomy 21 cells, and a second cell line
• 2-4 of Down syndrome population

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Translocation Trisomy 21

• Extra chromosome 21 is permanently attached to
  another chromosome
• Recipient chromosome is usually chromosome 14
• 3-4 of Down syndrome cases

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Incidence
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Incidence

• In the U.S., approximately 4,000 children are
  born with Down Syndrome each year
• One in every 800 live births
• Risk increases with maternal age
• Age 20 (1/1600)
• Age 35 (1/350)
• Increased risk for second child

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Prenatal Screening and Diagnostic Tests
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• Amniocentesis
• 14-18th week of pregnancy
• Chorionic Villus Sampling (CVS)
• 9-11th week of pregnancy
• Percutaneous Umbilical Blood Sampling (PUBS)
• 18-22nd week of pregnancy

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Physical Characteristics
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• Hypotonia poor muscle tone
• Slanting eyes with epicanthal folds
• Hyper flexibility
• Short, broad hands
• Broad feet with short toes

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• Short, low set ears
• Flat bridge of nose
• Small head
• Small oral cavity

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Development
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Early Communication

• Slower to respond
• May be sleepy
• Undemanding
• Smiles later

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Early Communication Continued

• Slower to begin vocalizing
• Enjoys social games
• Not as skilled using eye contact (due to
  Hypotonia in eye muscles)

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Motor Development

• Delayed reach and grasp
• Delayed crawling and walking
• Less mobile
• Less well-developed fine motor skills

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Hearing

• Two-thirds of children with Down syndrome have a
  hearing loss
• 33 conductive
• 47 sensorineural
• 19 both

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Vision

• There is a 60 chance of a child with Down
  syndrome having an opthalmic problem.
• 5 born with congenital cataracts
• 27 have crossed eyes

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First Words

• First words are nouns
• Adults need to speak slowly and clearly

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Speech

• Speech production problems
• Signing
• Speech and Language Pathologist necessary

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Memory

• Auditory short term memory development is delayed
• Visual memory better than auditory
• Signs, pictures and written words effective

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Literacy

• Whole word recognition
• Words must be meaningful
• Pictures as visual cues
• Vertical surface versus horizontal surface

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Inclusion
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Characteristics of a Successful Inclusive Setting

• Effective leadership
• Confidence among staff
• Optimism for students success
• Supporting staff

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Successful Inclusion Continued

• Balanced curriculum
• Systematic procedures
• Socialization
• No retention
• Collaboration

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Guidelines for Teachers

• Explain class rules and consequences
• Be consistent
• Clear directions
• Individualized instruction
• Structure transition times

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Guidelines Continued

• High level of interaction and feedback
• Peer tutoring
• Positive relationships with parents
• Recognize positive student behaviors often
• Dreams Video