Genetics - Prader-Willi Syndrome

Question 1

What is PW syndrome?

Answer 1

Genetic condition caused by loss of functional genes on proximal arm on chromosome 15 inherited from father

Question 2

What causes PW syndrome?

Answer 2

Deletion of proximal arm of chromosome 15 from father

Or

Both copies of chromosome 15 inherited from mother

Question 3

What are the features of PW syndrome?

Answer 3

Constant insatiable hunger that leads to obesity
Hypotonia as infant
Mild-moderate learning disability
Hypogonadism
Fairer, soft skin prone to bruising
Mental health problems
Narrow forehead
Almost shaped eyes
Strabismus
Thin upper lip
Downturned mouth

Question 4

What is the management of PW syndrome?

Answer 4

Carefully limiting access to food under dietician e.g. locking cupboards, locking fridge and controlling bins

Everyone in contact with child must be educated about limiting food access

Growth hormone
Supportive care from MDT

Question 5

Why do kids with PWS require a lower calorie intake than normal?

Answer 5

Lower activity due to poor muscle strength and tone

Question 6

Why is growth hormone used for PWS?

Answer 6

Improves muscle development and body composition

Question 7

Who plays a role in MDT supportive care in PW syndrome?

Answer 7

Dieticians
Educational support
Social workers
Psychologists or psychiatrists
Physiotherapists
Occupational therapists