MRI to Help Diagnose and Monitor Angelman Syndrome

Emily Malcolm, PhD avatar

by Emily Malcolm, PhD |

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MRI for Angelman syndrome

Reaching a diagnosis of Angelman syndrome is often a difficult and drawn-out process. The symptoms of the disease are similar to several other disorders, and doctors usually reach a diagnosis by a process of elimination. Getting a definitive diagnosis can be a frustrating ordeal for patients and their families.

Historically, doctors thought that patients with the disease had normal magnetic resonance imaging (MRI) findings, but more recent studies have indicated that this may not be the case.

What is MRI?

MRI is a type of imaging technique that is performed at a hospital or clinic. A large machine called an MRI imager collects images of the brain using a large magnet.

The process of taking an MRI can be short, usually five minutes, though sometimes longer scans (up to 20 or 30 minutes) are needed.

For some types of MRI, clinicians use a contrast agent that they inject or infuse into the patient’s body before the MRI begins.

How do patients prepare for an MRI?

No special preparations are needed before undergoing an MRI. The patient will have to wear scrubs or a hospital gown, and remove all jewelry and watches.

Because the imager uses a magnet, some people cannot have the scan, including those with certain types of dental work or metal implants, as these interfere with image collection.

If your child needs an MRI, doctors will discuss with you any precautions that need to be taken.

How are MRIs used in Angelman syndrome?

Doctors most commonly use MRIs to eliminate other conditions that might be similar to Angelman syndrome. However, recent studies have indicated there are brain features shared by Angelman syndrome patients, which doctors may use to identify these patients. Doctors can also use these brain features to track disease progression.

An MRI allows the doctor to see the tissues of the brain — the  white and gray brain matter. In Angelman syndrome patients, the white matter may be reduced. It is also sometimes possible to see decreased myelination. 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.

As the disease progresses, the brain abnormalities that doctors may use to diagnose Angelman syndrome can become more severe. Irregularities in blood vessels can become more obvious, and lesions (areas of abnormal tissue) can become apparent.

Researchers don’t understand the causes of these changes well. The studies that have shown the uses of MRI in diagnosing and tracking disease progression have been small. Larger studies are necessary to make MRI imaging a part of the clinical diagnosis and tracking of Angelman syndrome patients.

A current study at the University of North Carolina School of Medicine is recruiting Angelman syndrome patients under age 5.


Last updated: Aug. 17, 2020


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