Angelman syndrome may be suspected if a child's development is delayed and they have the syndrome's distinctive characteristics (see Symptoms and Types Section).
A blood sample can be taken to confirm the diagnosis. A number of genetic tests will be carried out on the sample. These may include:
For each child with Angelman syndrome, it's important to know the genetic change that caused the condition. This helps to determine whether there's a risk of it occurring again in another child, or whether there are implications for other members of the family.
Most children with Angelman syndrome are diagnosed between the ages of 18 months and 6 years, when the typical physical and behavioural symptoms become apparent.
If your child is diagnosed with Angelman syndrome, you should be given the opportunity to discuss the genetic diagnosis and implications with a genetic doctor.