Angelman Syndrome Diagnosis
An electroencephalogram is a test that can be used to diagnose and monitor the progression of Angelman syndrome. It measures electrical activity in the brain using small sensors that are placed on the head for the duration of the test. Learn more about electroencephalograms and how they are
A genetic test detects changes in genes that may indicate the cause of a disease. Because different genetic mechanisms can cause the inactivation of the UBE3A gene, the underlying cause of Angelman, several genetic tests may be required to confirm a diagnosis. Learn more about them by clicking the link below.
Magnetic Resonance Imaging
One diagnostic tool for Angelman is magnetic resonance imaging (MRI), which can be used to rule out other diseases or track the progression of the disease. Research has shown that Angelman syndrome patients have distinctive brain features that are visible through MRI, although not all patients display these features.
Positron emission tomography (PET) is a useful tool for understanding brain function and tracking biochemical and molecular processes in the nervous system of Angelman syndrome patients. PET scanning, along with MRI, can offer more insight into brain anatomy changes in Angelman syndrome.