Diagnosing Angelman syndrome can be difficult and frustrating because many of the symptoms of the disease are similar to the ones in other illnesses, requiring a process of elimination.
One diagnostic tool for Angelman is magnetic resonance imaging (MRI), which can be used to eliminate some other diseases or track the progression of the disease.
How does MRI work?
MRI uses a magnet to send radio signals through a patient, a process that usually takes less than an hour. These signals can then be used to generate a three-dimensional image of the patient. MRI machines usually look like large tubes. The patient lies on a bed that slides into the tube, which contains the magnet.
For some patients and types of MRI, a contrast agent may be injected into the patient’s bloodstream or inhaled by the patient so that a better image can be obtained.
Patients must remove all their clothing and wear a hospital gown or scrubs before going inside the instrument. All metal objects must also be removed, including hair clips, piercings, and jewelry.
Not all patients can undergo an MRI test. Because metal implants can be affected by the magnet, patients with medical implants such as pacemakers, cochlear implants, pins, or extensive dental work should discuss with their physician whether they can undergo the procedure.
How can an MRI help diagnose Angleman syndrome?
Although the main purpose of using MRI to diagnose Angelman syndrome is to eliminate other possible conditions that have the same symptoms, research has shown that Angelman syndrome patients have distinctive brain features that are visible through MRI, although not all patients display these features.
For example, one group of researchers observed a thinning of the corpus callosum (the brain region that connects the right and left hemispheres), enlargement of regions called the lateral ventricles, and cerebral atrophy or a loss of nerve cells in the brain.
Another research group observed decreased myelination in Angelman syndrome patients. Myelin is the coating surrounding nerve fibers that protects them from damage, and helps the conduction of nerve signals between nerve cells. Without this coating, nerve cells are fragile and easily damaged.
What happens after an MRI?
After an MRI scan, a radiologist will analyze the findings and share them with the patient’s physician, who will then meet with the patient to discuss the results.
Last updated: Oct. 6, 2019
Angelman Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.