Angelman syndrome
Diagnosing Angelman syndrome
Angelman syndrome may be suspected if a child's development is delayed and they have the syndrome's distinctive characteristics (see above).
A blood sample can be takento confirm the diagnosis. Anumber of genetic tests will be carried out on the sample. These may include:
- chromosome analysis to see if any parts of the chromosomes are missing(deletions)
- fluorescence in situ hybridisation (FISH) used to check specifically for chromosome 15 deletions when Angelman syndrome is suspected, or to check the mother's chromosomes
- DNA methylation which shows whether the genetic material on both the mother's and father's chromosomes is active
- UBE3A gene mutation analysis used to see if the genetic code on the maternal copy of the UBE3A gene is altered
For each child with Angelman syndrome, it's important to know the genetic change that caused the condition. This helps todetermine whether there'sa riskof itoccurring 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 6years, when the typical physical and behavioural symptoms become apparent.
If your child is diagnosedwith Angelman syndrome, you should be given the opportunity to discuss the genetic diagnosis and implications with a genetic doctor.
Medically Reviewed by a doctor on 21 Dec 2018
Introduction
Read about Angelman syndrome, a genetic disorder that affects the nervous system and causes severe physical and intellectual disability
Characteristics of Angelman syndrome
The typical characteristics of Angelman syndrome aren't usually apparent at birth. A child withAngelman syndrome will begin to show signs of delayed development at around 6-12 months, such as being u
Causes of Angelman syndrome
In most cases of Angelman syndrome, the child's parents don't have the conditionand the genetic difference responsible for the syndrome occurs by chance around the timeof conception. The typical char
Diagnosing Angelman syndrome
Angelman syndrome may be suspected if a child's development is delayed and they have the syndrome's distinctive characteristics (see above). A blood sample can be takento confirm the diagnosis. Anumb
Managing Angelman syndrome
Some of the symptoms of Angelman syndrome can be difficult to manage, and you'relikely to need help from a wide range of different healthcare professionals. Your child may benefit from some of the fo
Help and support
The Angelman Syndrome Support Education and Research Trust (ASSERT) is a UK based charity providing information and support for parents and carers of people with the syndrome. As well as visiting th
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