Diagnostic Testing

DMD boy

Bone Age X-Ray

A bone age x-ray is an x-ray, or scan, that will take pictures of your child’s wrist, hand, and fingers. This procedure is used to compare bone images of your child’s hand to others of their age to show differences in growth patterns. The process of getting the x-ray is painless and very small amounts of radiation are used for this type of scan. Your child should not feel anything while the x-ray images are being captured. 

Your child may have to undergo this procedure more than once in an effort to show the differences in bone growth as they age. Parents can stay in the room with their child during the entire test.

DEXA Scan

Low bone mass that is not low enough to be considered osteoporosis is sometimes called osteopenia. Patients on chronic steroid regimens may run the risk of steroid induced osteopenia or low bone density due to steroid use. Having low bone density may put your child at a higher risk of fracturing or breaking one of his or her bones.

If your child has a diagnosis requiring steroid use, we will ask your child to undergo a DEXA, dual energy x-ray absorptiometry, scan. This scan will measure your child’s bone density. Parents can stay in the room with their child during the entire test. Patients will lie flat on a table while the machine hovers above their whole body producing images of their bones. The images that result will inform your child’s providers of any changes in bone density that may have resulted from steroid use as well as detect any undiagnosed fractures normally undetectable in a routine x-ray.

Echocardiogram (ECHO)

An echo is a moving picture of your child’s heart. An echo uses sound waves that “bounce” off the heart to create pictures of his or her heart on a television screen and record them. This test looks at the different chambers of your child’s heart, how your child’s heart is beating, and how the blood is flowing through its chambers. This test is used to see if there are any problems with your child’s heart.

For this procedure, you and your child will be taken into a small, darkened room for this exam. You may stay with your child during the entire test. Your child can hold a comfort item and may watch or listen to a favorite video during the test. Patients will be expected to lie down for this exam for approximately 35 to 45 minutes. The sonographer may ask your child to lie on his or her side or back, or to change position, during the test. Three stickers, electrodes, will be applied to your child’s skin. Wires will stretch from these stickers so that your child’s heart rate can be collected. A wand with gel will be used on the skin to look at the heart and will be moved around on his or her chest. This will not hurt, but there can be some mild discomfort as the sonographer applies pressure to get the needed pictures of the heart.

Electrocardiogram (ECG)

An electrocardiogram is a simple, fast test that records the wave patterns of your child’s heart and prints that information out on strips of graph paper. An EKG gives doctors information about the rhythm of the heartbeat, the size of the chambers of the heart and the amount of blood going to the heart muscle itself.

Your child will need to remove his or her shirt and lie flat on a table or bed, covered with a sheet or gown. Ten small stickers, called electrodes, will be on your child’s chest, arms, and legs. Wires will stretch from here stickers recording their heartbeat and test for any abnormalities. It is important for your child to lie still and not talk during the EKG. If the child is still, the test will be quick and painless. The test takes about 5 to 10 minutes to complete. You may stay with your child during the entire test.

Holter Monitor

A holter monitor is a small device worn around the neck or on the body that keeps track of your heart rhythm. Holter monitors are used to look at irregular heartbeats or any unexplained events that may be a result of a heart problem that may happen in your day to day life. Patients may have to wear a holter monitor for two or seven days, in order for doctors to get good readings about your heart. Patients will be able to hide the monitor and wires underneath a shirt and carry out daily activities as normal.

Infusaport Placement

An infusaport placement is a small device placed in the chest cavity that allows for direct medication delivery into bloodstream and blood withdrawal. A tube is connected into the veins which is connected to a device right under the skin. With this procedure, patients will not need to have needle sticks constantly for routine testing that may occur. Patients may be put under sedation or general anesthesia for the procedure. 

Laboratory Tests

Laboratory tests will be used to measure changes in your child’s body that may not be visible elsewhere. Labs can consist of a blood draw, a cheek swab, throat culture, and/or a urine/stool sample. Labs are used to look at the progression of a disease or to diagnose a patient. Patients should expect to have routine labs taken every visit as part of their routine clinical follow up.

Magnetic Resonance Imaging (MRI)

Magnetic resonance imaging (MRI)/magnetic resonance angiography (MRA) uses a strong magnetic field and radio waves to produce detailed pictures of the body.

Prior to any scan, your child will be screened for any metal in or on their body. In order to avoid any problems with the machine’s magnets, we encourage each patient and their parents to wear clothing without metal accents. If your child has any type of implant, please make sure to inform the MRI/MRA technologist prior to him or her entering the scan room.

In the scan room there will be the MRI machine, a long cylinder tube with a table that will slide in and out as the machine takes pictures. The MRI/MRA technologist will place a wide strap across your child’s waist to help your child stay still during the test. Patients should expect to have to lie still on the table for the exam and will hear loud banging and knocking noises from the machine. You and your child will be given a set of foam earplugs to help protect your ears from the noise of the scanner. Depending on the scan, your child will be asked to hold his or her breath for a few seconds. The staff will then tell your child when to breathe out. A parent or guardian is welcome in the exam room and scanner room during this test.

Needle Muscle Biopsy

A muscle biopsy is a procedure where a needle is used to take out a piece of your muscle tissue for testing. This procedure is used to assess any potential diseases that affect the muscle or to evaluate the progression on a muscular disease. Patients will be given local anesthesia for the needle incision and should not experience pain. Patients may experience soreness following the procedure at the incision site.

Pediatric X-ray

Pediatric x-rays are x-rays, or scans, designated for patients under the age of 21. With these x-rays, the size of the patient is most considered to determine the amount of radiation needed to produce the image. Pediatric x-rays are no different than normal x-rays, except for the amount of radiation used. The procedure is harmless to the patient and radiation exposure is small.

Pediatric Ultrasound

Ultrasound imaging uses high frequency sound waves to view inside the body. Ultrasound machines use wands that go over the skin and produce a live image on a screen. Pediatric ultrasounds are the same as regular ultrasounds, just for children. Ultrasounds can be used to view the abdomen area and other areas of the body. No radiation is used to perform this procedure and has no harmful effects.

Peripherally Inserted Central Catherter (PICC)

A peripherally inserted central catheter (PICC) is a long thin tube that is sent through the veins in your child’s arm to a larger vein near your child’s heart. Using this procedure, doctors are able to directly deliver medications and other treatments into the bloodstream and near the heart. The procedure to place the PICC can take about 1 to 1 1/2 hours.

Pulmonary Function Testing (Spirometry)

Pulmonary function tests are non invasive tests to look at the functionality of and the airflow in the lungs. These tests can be used to diagnose or evaluate a disease that affects the lungs. Patients will have to do many different lung tests, such as breathing in and out with force. Patients may experience dizziness while performing the pulmonary tests.

Sleep Study (Polysomnography)

The sleep study is a test that is used to diagnose sleep disorders. Brain waves, oxygen levels in your blood, heart rate, and breathing are recorded during the test to help with diagnosis. This procedure is non invasive and pain free. Patients should expect to sleep in a room while being monitored. Wires may be attached all over your body for recordings. 

Spine X-ray

A lateral spine x-ray is an x-ray taken from the side to look at your vertebrae, or the bones around your spine. This procedure allows for a closer look at the vertebrae to assess if there are any issues around the spine. Patients will be exposed to a small amount of radiation and the procedure is pain free.

With chronic steroid use, patients are at greater risk for vertebral fractures. Patients who use steroids should have routine scans to check for any fractures that may have gone unnoticed.