1. By: Jessica Blayer Tracy Pawluk Erin Sand
Down Syndrome
By: Jessica Blayer
Tracy Pawluk
Erin Sand

2. Background
Down syndrome is a common genetic variation which usually causes delay in physical, intellectual and language development
Down syndrome is a genetic disorder caused by the presence of an extra 21st chromosome
It is named after John Langdon Down, the British doctor who described it in 1866

3. Background
Down syndrome is one of the leading clinical causes of cognitive delay in the world and it is not related to race, nationality, religion or socio-economic status
The incidence of Down syndrome is estimated at 1 per 800 to 1,000 births
Of all children born in this country annually, approximately 5,000 will have Down syndrome

4. Characteristics
Individuals with Down syndrome can have a lower than average cognitive ability, often ranging from mild to moderate mental retardation
A small number of individuals have severe to profound mental retardation
Physical Characteristics
single transverse palmar crease (a single instead of a double crease across one or both palms)
almond shaped eyes caused by an epicanthic fold of the eyelid
shorter limbs
poor muscle tone
protruding tongue

5. Other Health Problems
Approximately half of children with Down syndrome are born with some type of heart defect
These heart problems can be life threatening and can require surgery in early infancy
More likely to develop leukemia
Because of abnormalities in their immune systems, people with Down syndrome are much more susceptible to infectious diseases
As people with Down syndrome age, they have a greatly increased risk of dementia
Signs of dementia are often seen before age 40 in people with Down syndrome
Other health conditions are also commonly found in people with Down syndrome, including gastrointestinal blockage, thyroid problems, hearing loss and poor vision

6. Screening in Utero
Most pregnant women have a blood test done around the 15th week of pregnancy to screen for down syndrome
The test looks at three chemicals found in the woman’s blood to estimate the risk of Down syndrome in her fetus
The likelihood of giving birth to a child with Down syndrome increases with maternal age
However, 80% of babies with Down syndrome are born to women under 35 years of age
Both men and women can pass the genetic translocation for Down syndrome on to their children
However, in most cases Down syndrome occurs due to faulty gamete cell division and it is not inherited

7. Screening Video

8. Genetics

9. Brain Differences in Brain
some of these differences include embryonic simplicity
abnormal convolutions
reduced weight
abnormal shape
Differences in the brain are not apparent at birth, but differences appear within the first months of development

10. Brain
In contrast, the brain of a person with Down syndrome lacks surface complexity
The frontal lobes may have defective tissue development
This is important because the frontal lobe controls fine motor movements, lips, tongue, and vocal cords
There is also compression of the occipital lobes and a smaller cerebellum and brain stem
In one study, 20-50% fewer neurons were found in the visual cortex of people with Down syndrome

11. BRAINS!! Brain of a person with down syndrome
Brain of “Average” Person

12. Neurobiology
Studies suggest selective impairment of functions of the hippocampus, prefrontal cortex, and cerebellum
Hippocampus is most impaired of the three
Hippocampus functions that have been impaired in a person with Down syndrome include exploration, context learning, and spatial cognition

13. Treatments
There is no medical treatment for Down syndrome that will provide a cure
Children with Down syndrome do benefit from medical help and early interventions, starting in infancy
Physical Therapy, Occupational Therapy, Speech/Language Therapy

14. Educational Implications
Most students with Down syndrome receive special education services and are placed in self-contained classrooms
High-functioning students with Down syndrome can benefit from inclusive classroom settings
Inclusive settings can offer students social, academic, and behavioral benefits
Students who have the opportunity to be placed in inclusive settings often develop higher verbal and language development then those who are not

15. Educational Implications – Modifications & Accommodations
Repetition of material is often needed to reinforce what is being presented
Teachers can also adapt materials to make learning easier and more appropriate
Students with Down syndrome often learn more efficiently when visuals/manipulatives are used because they often have problems with short-term auditory memory
Additional deficits in working memory are problematic because this plays an important role in developing language skills in acquiring and attaining vocabulary

16. Educational Implications – Transition/Living
Transition plans should start to be written when students turn 14 and complete plans should be designed by age 16
Options can include academic programs, vocational/training programs, or a combination of both
Living arrangements are determined by the level of adaptive skills the student has
Arrangements can include at home with the family, in student housing, or in group homes

17. Future Outlook
Life spans have increased dramatically for people with Down syndrome
In 1929, a baby born with Down syndrome often didn't live to age 10
Today, someone with Down syndrome can expect to live to 50 and beyond
This age continues to rise because of early interventions and better care

18. References:
Alton, S. (2001). Short-term Auditory Memory. DSA (UK) Journal, Winter, Issue 95.
Bosworth, D. (2001). Benefits to students with down syndrome in the inclusion classroom K-3. Towson University
Website: age= Bosworth.html
Capone, G.T. (2004). Down Syndrome: Genetic insights and thoughts on early intervention. Infants and Young Children, 17(1),
Cold Spring Harbor Laboratory (2002). Down Syndrome. Your Genes Your Heath
Website:
(2006). Down Syndrome.
Website: htm

19. References:
(2007). Down Syndrome. Website:
Mayo Clinical Staff (2007). Down Syndrome. Children’s Health
Website:
Pennington, B.F, Moon, J., Edgin, J., Stedron, J., & Nadel, L. (2003). The neuropsychology of down syndrome: Evidence for hippocampal dysfunction Child Development, 74(1),
Uecker, A., Mangan, P. A., Obrzut, J. E., & Nadel, L. (1993). Down syndrome in neurobiological perspective: An emphasis on spatial cognition. Journal of Clinical Child Psychology, 22(2),
Van Cleve, S., Cannon, S., & Cohen, W. (2006) Part II: Clinical practice guidelines for adolescents and young adults with down syndrome: Years. Journal of Pediatric Health Care, 20(3),