Genetics - Prada-Willi Syndrome

Question 1

Definition

Answer 1

Genetic condition caused by the loss of functional genes on the proximal arm of the chromosome 15 inherited from the father, or when both copies of chromosome 15 are inherited from the mother.

Question 2

Signs and symptoms

Answer 2

• Constant insatiable hunger that leads to obesity
• Poor muscle tone as an infant (hypotonia)
• Mild-moderate learning disability
• Hypogonadism
• Fairer, soft skin that is prone to bruising
• Mental health problems, particularly anxiety
• Dysmorphic features
• Narrow forehead
• Almond shaped eyes
• Strabismus
• Thin upper lip
• Downturned mouth

Question 3

Key feature for Prada-Willi

Answer 3

Insatiable hunger
- Feeding can often be a challenge initially due to hypotonia and it is only later that the food seeking and excessive eating occur.

Question 4

Treatment

Answer 4

No cure
- Carefully limiting access to food under guidance of a dietitian is required to control weight (locking food in cupboards, fridges, and controlling access to rubbish bins)
- Usually require a lower than normal calorie intake = as they tend to have lower activity levels due to poor muscle strength and tone.
- GROWTH HORMONE = Aimed at improving muscle development and body composition

Question 5

Supportive care

Answer 5

• Dieticians play a very important role
• Education support
• Social workers
• Psychologists or psychiatrists
• Physiotherapists
• Occupational therapists