Rubinstein-Taybi Syndrome: Orthopaedics
Charles Mehlman, DO, Director, Musculoskeletal Outcomes Research: "It’s been a wonderful wonderful experience. I was so lucky to get to know Dr. Rubinstein over the years, to interact with him on the research projects that we did. To have him confidently send any number of patients to see me when they came to see him and his team."
Bill Mann, Sophia’s parent: "There’s a lot of orthopaedic issues in RTS. Sophie has a potential tethered cord. She also sees orthopaedic for some scoliosis, a spondylolisthesis, which is like a crack in her spine that we have to watch."
Dr. Mehlman: "On the list of musculoskeletal problems that the kids have, the kneecap trouble is near the top. We’ve found that about 5% of the RTS kids have the dislocating kneecaps."
(natural sound from presentation)
Dr. Mehlman: "It could be a real calamity because if you take a kid who was a walker and make them a non-walker and that’s it’s own tragedy. So that’s why we were very focused on the dislocating kneecaps as well as how to treat it which in large part was really surgical. The other common problems we found that hip problems were also present in about 5% of the kids with RTS."
(natural sound from presentation)
Dr. Mehlman: "If your heart doesn’t have enough blood supply you get a heart attack. If your bone doesn’t have enough blood you can think of it as a bone attack.
(natural sound from presentation)
Dr. Mehlman: "And that’s where we talk about basically the ball of ice cream sort of slowly sliding off the ice cream cone. It presents as the child complaining about hip pain or sometimes complaining about their knees and that often also demands surgical intervention to stabilize the ball in the ball-in-socket. The last area is our spinal problems. And we found that spinal problems amounting to scoliosis, which is the sideways curvature, kyphosis, which is the forward hunching and then certain troubles at the low part of the back. There’s a thing that we call spondylolisthesis. If there is such a thing as a slipped disc, that is the proverbial slipped disc in a kid, where one vertebra slides forward on the other.
So those three things, scoliosis, kyphosis and then spondylolisthesis were present in about 10% of the kids. There’s other things like tethered cord and certain other less common spinal problems. So for the duration of my career, those have been the things that I’ve screened for on the kids with RTS. I mean, because of the nature of the syndrome, every child has some hand and foot findings."
(natural sound from presentation)
Dr. Mehlman: "But these much smaller percentages have the kneecap, hip and spine findings."
Mann: "So orthopaedics played a big role and certainly we’ve come here to Children’s forever on it but have not had to have any surgeries or anything, which is good. We thought a few times that we would but we haven’t."
Dr. Mehlman: "Think of it as preventive maintenance, you know for one’s car or something, right, you’re doing preventive maintenance for the child. That may mean screening once a year. As the child gets older maybe every couple years. But if you’re in a phase where you’ve identified a problem and you’re actively treating it, after surgery, we commonly see patients you know within, somewhere between a few days to a few weeks and then based on the problem it may be several months and then a period of monitoring afterward. And I tell many young doctors, don’t try to act like you know the child’s syndrome. Understand that this parent knows about a hundred times more about their child’s syndrome than you ever will. My experience has been uniformly a positive experience of happy, interactive children that you just want to help."
5 янв 2020
