This syndrome affects the brain’s neurons and is a genetic disorder. Symptoms may include laughing frequently, slow physical and mental growth, seizures, and speech difficulties especially in children.
Detecting Angelman Syndrome is easy if you know the signs to look out for. Although genetic testing is best for more conclusive results. PET Scans are used to look at the brain function and follow biochemical and molecular processes in the patients.
PET Scans use small amounts of radioactive tracers to bind molecules in the area injected hence releasing radiation. This is then picked up by the scanner and images are produced on a computer after which the results are interpreted by a radiologist.
So how can a PET Scan detect Angelman Syndrome? The reason why this syndrome occurs is because a gene called UBE3A is deleted from the DNA of the patient. Neurotransmitters that prevent are responsible for emotions such as happiness and joy bind GABA-A receptors.
This targets the affected region and shows whether these receptors are working or not. This along with results from genetic testing confirms the diagnosis of Angelman Syndrome.
PET scan imaging offers more depth in understanding the changes in the brain’s anatomy including detecting Angelman Syndrome. PET scanning can detect the amount of white matter the brain has and myelination.
Before a PET Scan you are instructed to avoid exercising heavily a couple of days before the day of testing, and avoid food hours before the scan. Inform the radiologist if you are on any medication or are prone to allergic reactions.
This will help the radiologist better understand the results if at all these are picked up by the PET scanner. Try to relax and breath in and out before, at least it is not an invasive procedure.