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little girl in wheelchair

A holistic and proactive approach to the management of the patients with cerebral palsy

little girl in wheelchair

The cerebral palsy program at Children’s National Hospital takes a comprehensive approach to meet children’s needs from infancy through young adulthood.

Though children with cerebral palsy (CP) often require significant rehabilitative and surgical support, most often each service is provided in the individual specialty itself. Patients and their families frequently experience a great deal of stress coordinating care, getting to appointments, keeping track of medications and managing treatments on their own.

However, the CP program at Children’s National Hospital, co-led by an orthopaedic surgeon, Sean Tabaie, M.D., and a pediatric rehabilitation specialist, Olga Morozova, M.D., working together and in collaboration with Shannon Kelly, M.D., (Orthopaedics) and Jeff Rabin, D.O., (Physical Medicine and Rehabilitation) has evolved into a truly comprehensive approach. The program is designed to meet the needs of these children from infancy through young adulthood with the goal of improving function and preventing musculoskeletal deformities and complications.

Providing children and their families with a single point of care coordination allows the care team to track and anticipate a multitude of potential challenges for each child as early as possible and intervene in smaller ways before they bring pain and long-term complications or require major surgical interventions. Key highlights of this collaborative program include:

  • Hip surveillance: Patients with CP are followed closely to identify hip pathology prior to serious subluxation or dislocation. Early identification allows for the use of medical or surgical interventions to prevent a minor issue from becoming a major one.
  • Serial casting for children with early signs of muscle contractures: Dr. Morozova uses agents to relax the muscles and Dr. Tabaie applies the cast in the operating room followed by continued weekly serial casting in the clinic. “Proper medical management and bracing at regular intervals can improve muscle function and prevent the need for larger surgeries and more intense rehabilitation later,” says Dr. Morozova.
  • Advanced coordination between physical therapy in the hospital and outpatient services in the region, building on the hospital’s partner agreement with the HSC Health Care System.
  • Single event multi-level surgeries (SEMLS): Ensuring that surgical procedures capture all surgical needs at one time by assessing the entire anatomy and scheduling multiple surgical or pharmaceutical interventions to occur in a single session.

The doctors point out that offering these services in one cohesive location and combining treatments into the same appointment or procedure date is something that many patients with CP and their families truly appreciate.

“I think families of children with CP will travel great distances if the care they receive is comprehensive and eliminates some of the back and forth travel they do now,” says Dr. Tabaie.

Today, the team sees close to 100 patients with CP per month and hopes to expand to reach as many families in the region and beyond who need them.

Dr. Tabaie says, “Our goal is to identify patients early and start managing them to help their quality of life today, prepare them to grow as healthily and in as little pain as possible and set them up to be as healthy as they can possibly be as adults, too.”

Chromosomes

Precision medicine for Wilms tumor patients

Chromosomes

Previously, researchers discovered that loss of heterozygosity (LOH) on chromosomes 1 and 16 is associated with a significantly increased risk of relapse of Wilms tumor.

About 650 children are diagnosed each year in the U.S. with Wilms tumor, the most common pediatric kidney cancer. The vast majority of patients respond well to the current standard of care involving a combination of surgery, chemotherapy and radiation. However, approximately 20% of patients with “favorable histology” Wilms tumor experience recurrence.

Previously, researchers discovered that loss of heterozygosity (LOH) on chromosomes 1 and 16 is associated with a significantly increased risk of relapse. A research team in the Children’s Oncology Group (COG), led by Jeffrey Dome, M.D., Ph.D., vice president of the Center for Cancer and Blood Disorders at Children’s National Hospital, sought to determine whether an augmented chemotherapy regimen can overcome the negative effect of LOH.

More than 2,500 patients with Wilms tumor were enrolled in the biology and classification study over a 7–year period. Tumor tissue was tested for LOH and patients with LOH at both chromosomes 1 and 16 received more intensive chemotherapy regimens compared to the standard approach. The results showed that the increased treatment provided a statistically significant benefit in the 4-year event-free survival, with trends toward improved overall survival. For low-stage disease (stage I-II), the four-year event-free survival was 87.3%, compared to a historical rate of 68.8%. Similarly, for advanced stage disease (stage III/IV) four-year event-free survival was 90.2%, compared with 61.3% historically.

Although the new regimens involved additional chemotherapy agents compared to the standard regimens, the short-term toxicities were expected and manageable. There is an increased risk of long-term toxicity including infertility and second malignancies, which requires careful discussion with families. Future studies will seek to mitigate these risks with newer chemotherapy agents.

By better understanding which patients might benefit from more intensive treatment regimens through precision medicine, doctors can tailor therapy according to the risk of relapse, Dr. Dome says.

“This study represents a significant milestone in the treatment of Wilms tumor because it is the first to demonstrate that patient outcome can be improved using a molecular biomarker to guide treatment,” he explains. “We have entered the age of precision medicine for Wilms tumor.”

Beth Tarini

Getting to know SPR’s future President, Beth Tarini, M.D., MS

Beth Tarini

Quick. Name four pillar pediatric organizations on the vanguard of advancing pediatric research.

Most researchers and clinicians can rattle off the names of the Academic Pediatric Association, the American Academy of Pediatrics and the American Pediatric Society. But that fourth one, the Society for Pediatric Research (SPR), is a little trickier. While many know SPR, a lot of research-clinicians simply do not.

Over the next few years, Beth A. Tarini, M.D., MS, will make it her personal mission to ensure that more pediatric researchers get to know SPR and are so excited about the organization that they become active members. In May 2019 Dr. Tarini becomes Vice President of the society that aims to stitch together an international network of interdisciplinary researchers to improve kids’ health. Four-year SPR leadership terms begin with Vice President before transitioning to President-Elect, President and Past-President, each for one year.

Dr. Tarini says she looks forward to working with other SPR leaders to find ways to build more productive, collaborative professional networks among faculty, especially emerging junior faculty. “Facilitating ways to network for research and professional reasons across pediatric research is vital – albeit easier said than done. I have been told I’m a connector, so I hope to leverage that skill in this new role,” says Dr. Tarini, associate director for Children’s Center for Translational Research.

“I’m delighted that Dr. Tarini was elected to this leadership position, and I am impressed by her vision of improving SPR’s outreach efforts,” says Mark Batshaw, M.D., Executive Vice President, Chief Academic Officer and Physician-in-Chief at Children’s National. “Her goal of engaging potential members in networking through a variety of ways – face-to-face as well as leveraging digital platforms like Twitter, Facebook and LinkedIn – and her focus on engaging junior faculty will help strengthen SPR membership in the near term and long term.”

Dr. Tarini adds: “Success to me would be leaving after four years with more faculty – especially junior faculty – approaching membership in SPR with the knowledge and enthusiasm that they bring to membership in other pediatric societies.”

SPR requires that its members not simply conduct research, but move the needle in their chosen discipline. In her research, Dr. Tarini has focused on ensuring that population-based newborn screening programs function efficiently and effectively with fewer hiccups at any place along the process.

Thanks to a heel stick to draw blood, an oxygen measurement, and a hearing test, U.S. babies are screened for select inherited health conditions, expediting treatment for infants and reducing the chances they’ll experience long-term health consequences.

“The complexity of this program that is able to test nearly all 4 million babies in the U.S. each year is nothing short of astounding. You have to know the child is born – anywhere in the state – and then between 24 and 48 hours of birth you have to do testing onsite, obtain a specific type of blood sample, send the blood sample to an off-site lab quickly, test the sample, find the child if the test is out of range, get the child evaluated and tested for the condition, then send them for treatment. Given the time pressures as well as the coordination of numerous people and organizations, the fact that this happens routinely is amazing. And like any complex process, there is always room for improvement,” she says.

Dr. Tarini’s research efforts have focused on those process improvements.

As just one example, the Advisory Committee on Heritable Disorders in Newborns and Children, a federal advisory committee on which she serves, was discussing how to eliminate delays in specimen processing to provide speedier results to families. One possible solution floated was to open labs all seven days, rather than just five days a week. Dr. Tarini advocated for partnering with health care engineers who could help model ways to make the specimen transport process more efficient, just like airlines and mail delivery services. A more efficient and effective solution was to match the specimen pick-up and delivery times more closely with the lab’s operational times – which maximizes lab resources and shortens wait times for parents.

Conceptual modeling comes so easily for her that she often leaps out of her seat mid-sentence, underscoring a point by jotting thoughts on a white board, doing it so often that her pens have run dry.

“It’s like a bus schedule: You want to find a bus that not only takes you to your destination but gets you there on time,” she says.

Dr. Tarini’s current observational study looks for opportunities to improve how parents in Minnesota and Iowa are given out-of-range newborn screening test results – especially false positives – and how that experience might shake their confidence in their child’s health as well as heighten their own stress level.

“After a false positive test result, are there parents who walk away from newborn screening with lingering stress about their child’s health? Can we predict who those parents might be and help them?” she asks.

Among the challenges is the newborn screening occurs so quickly after delivery that some emotionally and physically exhausted parents may not remember it was done. Then they get a call from the state with ominous results. Another challenge is standardizing communication approaches across dozens of birthing centers and hospitals.

“We know parents are concerned after receiving a false positive result, and some worry their infant remains vulnerable,” she says. “Can we change how we communicate – not just what we say, but how we say it – to alleviate those concerns?”

Emily Niu

Osteochondritis dissecans: Deciding the best candidates for nonoperative treatment

Emily Niu

“When patients come to see me with this condition, they’re often at their lowest point. But then I get to watch them go through this transformation as they’re getting better,” says Emily Niu, M.D. “It’s really wonderful to see someone’s personality blossom over the course of treatments.”

The adage of “practice makes perfect” is true for young competitive athletes; however it also puts them at risk for overuse injuries. One of these injuries is a condition called osteochondritis dissecans (OCD), in which repeatedly overloading joints causes increased stress to certain areas of bone. This area of bone can lose its blood supply, become unhealthy and ultimately end up fragmented. In the late stages, this area of bone can break off from the surrounding healthy bone and as a result, the overlying cartilage (which relies on the bone for a foundation) can become prone to damage. This process can be likened to the formation of potholes in a road. Typically, individuals affected can have pain, limited range of motion or even arthritis down the line.

This condition can happen at different locations throughout the body, including the knees, ankles and elbows. Baseball players and gymnasts are particularly prone to getting OCD of the capitellum, or the outside of the elbow, from throwing or tumbling.

If this injury is unstable, with bone and cartilage already fragmenting, it’s typically treated with surgery, explains Emily Niu, M.D., a Children’s National orthopaedic surgeon. Stabilizing the fragment and drilling tunnels in the affected bone surface allows new bone to grow and repair the defect. But for stable OCD, the treatment path is unclear.

Sometimes nonoperative treatments, such as rest, physical therapy or bracing the joint, can allow it to fully heal over time; however, she says, some patients treated nonoperatively may not be able to heal and will still require surgery later.

What distinguishes these two groups has thus far been unclear. Dr. Niu adds that there are few studies that have looked at what characteristics might make patients better candidates for a surgical or nonoperative route. The studies that do exist are limited to very small groups of patients.

To help doctors and their patients make more informed decisions, Dr. Niu and her colleagues performed a retrospective review of 89 patients aged 18 years old and younger treated at Boston Children’s Hospital for stable OCD of the capitellum. The vast majority of these 49 male and 40 female patients were baseball players and gymnasts. Most had just a single elbow affected; four patients (all gymnasts) experienced this problem in both elbows.

Each of these patients was initially treated nonoperatively, with activity restriction, physical therapy and progressive return to activity at the discretion of the treating physician. During this time, all of the athletes had elbow radiographs, elbow MRIs or both to image the injury and follow its healing process.

The researchers report in the November 2018 that just over half of these 93 elbows healed successfully with nonoperative treatments, taking an average of about eight months for symptoms to subside and imaging to show that the bone had healed properly.

When Dr. Niu and her colleagues looked for characteristics that might have influenced whether nonoperative treatments worked or didn’t, they didn’t find any difference in the two groups with age, bone maturity, sex, hand dominance or sport. However, the healing group had symptoms for an average of four months shorter than the non-healing group before they sought treatment. Those patients with bone lesions without clear margins visible on MRI were more likely to heal than those with clear margins, as were those without cyst-like lesions on their bones – both signs of a more advanced process. In addition, those whose bone lesions were relatively small were more likely to heal than those with larger lesions compared to the size of their bones.

Dr. Niu notes that OCD can be a devastating injury for young athletes, interrupting their participation in sports on average for a minimum of six months and significantly longer if nonoperative treatments fail and surgery becomes necessary. Being able to shave some time off that schedule with better knowledge of which type of treatment is most likely to work, she says, can help her patients get back to doing what they love significantly faster.

“When patients come to see me with this condition, they’re often at their lowest point. But then I get to watch them go through this transformation as they’re getting better,” Dr. Niu says. “It’s really wonderful to see someone’s personality blossom over the course of treatments. It’s such a relief for both of us when they’re back where they want to be.”