Angelman's Syndrome

Question 1

What is this describing?

Loss of maternal genes in the long arm of chromosome 15. Causes neurodevelopmental disability.

Answer 1

Angelman’s syndrome

Question 2

What is this a presentation of?
From 6 months of age, severe developmental delay, jittery movements, balance problems, ataxic gait, happy and excitable, minimal speech, microcephaly, seizures by 3 years old.

Answer 2

Angelman’s syndrome

Question 3

How is Angelman’s syndrome diagnosed?

Answer 3

FISH or array CGH

Question 4

What is the management for Angelman’s syndrome?

Answer 4

1. Specialist schooling
2. Medication to control seizures
3. Life expectancy normal but requires life long care