Angelman Syndrome: Clinical Diagnosis
What is a clinical diagnosis of AS?
In the past, up to 10% of people who showed the signs of Angelman syndrome had genetic test results that did not identify a cause of AS. Their tests, including methylation testing and testing of the UBE3A gene, came back negative.
When this happened, a health care provider with experience in Angelman syndrome could still diagnose the person with AS based on their symptoms and characteristics. This was called a clinical diagnosis of AS.
Does everyone who has a clinical diagnosis of AS actually have Angelman syndrome?
Maybe not. More recently, many new genetic conditions have been identified that have similar symptoms or characteristics to Angelman syndrome, so it is important that the individual is also tested for these conditions.
Talk to a Genetic Counselor
Find out what additional testing can be done. FAST’s genetic counselor, Niki Armstrong, can help!
Schedule a 1:1 AppointmentCould this happen again in our family?
Because the underlying genetic cause or genotype is not known in these families, we do not know the chance for a family to have another child diagnosed with the same condition. We also do not know if the potential treatments for AS that are in clinical trials could be helpful.
Are there clinical trials for individuals living with a clinical diagnosis of AS?
No, clinical trials typically require a confirmed genetic diagnosis and genotype. Clinical trials test potential treatments, which are often focused on the underlying cause of the condition. In Angelman syndrome, this is not enough UBE3A protein. We know that many people who previously had a clinical diagnosis of AS have been found to have new genetic conditions caused by other genes and proteins. People with those conditions would not benefit from potential treatments focused on increasing UBE3A.
Keep Learning & Find Support
Genetics 101
Learn More
Newly Diagnosed
Learn More