Stories about: Tests & treatment

Minimally invasive surgery helps Rhode Island boy get back to being a kid

jonathan_beforeandafterFor Jonathan Reed, summer fun goes way beyond wave riding along New England beaches. During a recent weeklong family vacation to Universal Studios in Florida, the Rhode Island fourth-grader visited wave pools at a water park, rode gravity-defying roller coasters and sprinted from one fun-filled attraction to the next.

This dream vacation may not have been as magical if Jonathan had to continually battle ongoing stomach pain.

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Tuberous sclerosis: Clinical trial may be what halted Charlotte’s seizures

Seizures tuberous sclerosis
Charlotte with Jurriaan Peters, MD, in the Clinical and Translational Study Unit.

When Charlotte D’Amario was about 4½ months old, she began making odd, forward-lurching movements. At first, her pediatrician thought it was reflux—that she was trying to spit up. “It was getting worse and worse, and no one had a clue as to what it was,” says Allyson, her mother.

Her parents started to videotape her while she made these odd motions. They occurred in clusters of as many as 50 at a time, several times a day. Seeing videos of Charlotte at 8½ months, her pediatrician sent her to a neurologist. An electroencephalogram (EEG) revealed seizure activity, and an MRI scan showed tuber-shaped growths in Charlotte’s brain.

Charlotte was diagnosed with tuberous sclerosis complex (TSC), a rare genetic condition in which benign tumors grow in the brain and other organs such as the skin, heart, eyes, kidneys and lungs. In about 90 percent of children, it causes epilepsy that can result in developmental delays.

Charlotte’s parents were worried. “She wasn’t crawling or rolling, wasn’t hitting those baby milestones,” says Allyson.

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Can a blood test diagnose autism?

New research from Boston Children’s Hospital shows it may be possible to identify children at risk for autism spectrum disorders (ASDs) through a blood test, making screening faster, easier and less expensive than many ASD tests available at the moment.

Currently, ASDs are usually diagnosed through careful assessment of a child’s behavior. For the most part that’s an accurate diagnostic technique, but its main drawback is how long it takes. An accurate behavioral assessment can only take place at an age when most children have developed a long list of language, communication and other social and interpersonal skills. Many times these clues can be subtle, and since these skills take time to emerge naturally, most children in the U.S. aren’t fully diagnosed with an ASD until they are at least 5 years old.

But a blood test that could identify an ASD genetically could be given to children much earlier in life, allowing for earlier diagnoses and interventions, possibly even before symptoms develop.

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Our patients’ stories: using medical robots at home

When you hear the word robot, which image comes to mind first?

Those of us raised on Star Wars and Buck Rogers are likely to identify with the first image, but physically speaking, the robots of today have more in common with your computer and microwave than a Hollywood android.

They may look less interesting than your favorite sci-fi film characters, but modern medical robots are still quite helpful. So much so that the Boston Globe recently ran a story about a pilot project that placed a medical robot created by VGo Communications in the home of the Tally family, whose 2 year-old son Aidan is recovering from surgery he received at Children’s Hospital Boston last month to treat his urinary reflux .

The VGo robot’s main function is videoconferencing, which connects the Ashland-based family to their doctors and nurses here in Boston. Operated by remote control from Children’s, the VGo robot lets medical professionals see and communicate with Aidan’s parents, take video and close-up photos of Aidan’s scars for medical review and figure out if the prescribed medication is doing its job.

And because videoconferencing appointments are easier to coordinate than hospital visits, the Tally family was able to check in with Aidan’s care team every three days, instead of waiting for their first post surgical appointment, scheduled for six weeks after his surgery.

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