Prader Willi

Question 1

What type of condition is prader willi?

Answer 1

Genetic condition

Question 2

What is Prader Willi due to?

Answer 2

loss of functional genes on the proximal arm of the chromosome 15

Question 3

Inheritance form which parent causes prader willi?

Answer 3

Father

Question 4

What can cause the loss of the functional gene?

Answer 4

• microdeletion of paternal 15q11-13 (70% of cases)

* maternal uniparental disomy of chromosome 15

Question 5

What are the main features of prader willi?

Answer 5

• Constant insatiable hunger that leads to obesity
• Poor muscle tone as an infant (hypotonia)
• Mild-moderate learning disability
• Hypogonadism
• Dysmorphic features

Question 6

What physical features can prader willi present with?

Answer 6

• Fairer, soft skin that is prone to bruising
• Narrow forehead
• Almond shaped eyes
• Thin upper lip
• Downturned mouth
• Strabismus

Question 7

Is there a cure for prader willi?

Answer 7

No- its a genetic condition

Question 8

What needs to be limited in the management of prader willi?

Answer 8

Limiting access to food under guidance of a dietician is required to control weight

Question 9

What do people with prader willi need?

Answer 9

A lower than normal calorie intake, particularly as they tend to have lower activity levels due to poor muscle strength and tone.

Question 10

What medical management can be given for prader willi?

Answer 10

Growth hormone

Question 11

Why are growth hormones given to someone with prader-willi?

Answer 11

Growth hormones improve muscle development and body composition.