Week 3 - B - Supporting new parents (Down's syndrome)

Question 1

What are the three different types of Down’s syndrome? in order of most common to least common

Answer 1

• • Trisomy 21 - 95% of downs cases
• Translocation - part of chromsome 21 breaks off during cell division and attaches (translocates) to another chromsome
• Mosaicism - this is when there is a mixture of two types of cells - some contain 46 chromsomes and some47 chromsomes

Question 2

What are some of the characterisics of Down’s syndrome?

• WHat on head?
• What on hands?
• What on the feet?

Answer 2

• Hypotonia - can affect all parts of the body and may even lengthen the time it takes for the child to walk
• Small mouth and therefore protruding tongue
• Below average weight and length at birth
• Problems with eye sight and hearing
• Single palmar crease and short fifth finger (pinky)
• Widely spaced 1st and 2nd toes
• Cervical spine instability

Question 3

What are the senile plaques in alzheimers disease formed from?

Answer 3

Senile plaques are extra cellular amyloid deposits (usually in the grey matter of brain) containing amyloid-beta protein

Question 4

Why is there a link between alzhiemers and down’s syndrome? Ie those with downs develop alzhimers disease at a far younger age

Answer 4

This is because the amyloid precursor protein is found on chromsome 21 - more chromsome 21 - more likely to have the amyloid precursor protein One of the brain’s APP processing pathways produces beta-amyloid, a fragment that’s the chief component of plaques and a prime suspect in Alzheimer’s-related brain changes. Having an extra copy of the APP gene may increase production of beta-amyloid, triggering the chain of biological events leading to Alzheimer’s.

Question 5

People with Down’s syndrome can live to over 60 years. People with Down’s syndrome have the same range of feelings as everyone else. What type of learners are people with downs?

Answer 5

People with Down’s syndrome are visual learners - ie learn by looking

Question 6

Name an organisation in scotland that supports families with Down’s syndrome?

Answer 6

Downs syndrome scotland

Question 7

In downs syndrome What are the white spots on the eye known as? What part of the eye do these spots appear?

WHat is seen in the hands and feet? WHat is the face described as being?

Answer 7

These are known as Brushfield spots - they are found in the iris are and are a characteristic of Downs syndrome

Single palmar crease and small pinky

Wide spaced 1st and 2nd toes

Face is described as being flat & flat back of head