Abstract Happy 2022 New Year greeting card with light bulb

The best of 2022 from Innovation District

Abstract Happy 2022 New Year greeting card with light bulbA clinical trial testing a new drug to increase growth in children with short stature. The first ever high-intensity focused ultrasound procedure on a pediatric patient with neurofibromatosis. A low dose gene therapy vector that restores the ability of injured muscle fibers to repair. These were among the most popular articles we published on Innovation District in 2022. Read on for our full top 10 list.

1. Vosoritide shows promise for children with certain genetic growth disorders

Preliminary results from a phase II clinical trial at Children’s National Hospital showed that a new drug, vosoritide, can increase growth in children with certain growth disorders. This was the first clinical trial in the world testing vosoritide in children with certain genetic causes of short stature.
(2 min. read)

2. Children’s National uses HIFU to perform first ever non-invasive brain tumor procedure

Children’s National Hospital successfully performed the first ever high-intensity focused ultrasound (HIFU) non-invasive procedure on a pediatric patient with neurofibromatosis. This was the youngest patient to undergo HIFU treatment in the world.
(3 min. read)

3. Gene therapy offers potential long-term treatment for limb-girdle muscular dystrophy 2B

Using a single injection of a low dose gene therapy vector, researchers at Children’s National restored the ability of injured muscle fibers to repair in a way that reduced muscle degeneration and enhanced the functioning of the diseased muscle.
(3 min. read)

4. Catherine Bollard, M.D., M.B.Ch.B., selected to lead global Cancer Grand Challenges team

A world-class team of researchers co-led by Catherine Bollard, M.D., M.B.Ch.B., director of the Center for Cancer and Immunology Research at Children’s National, was selected to receive a $25m Cancer Grand Challenges award to tackle solid tumors in children.
(4 min. read)

5. New telehealth command center redefines hospital care

Children’s National opened a new telehealth command center that uses cutting-edge technology to keep continuous watch over children with critical heart disease. The center offers improved collaborative communication to better help predict and prevent major events, like cardiac arrest.
(2 min. read)

6. Monika Goyal, M.D., recognized as the first endowed chair of Women in Science and Health

Children’s National named Monika Goyal, M.D., M.S.C.E., associate chief of Emergency Medicine, as the first endowed chair of Women in Science and Health (WISH) for her outstanding contributions in biomedical research.
(2 min. read)

7. Brain tumor team performs first ever LIFU procedure on pediatric DIPG patient

A team at Children’s National performed the first treatment with sonodynamic therapy utilizing low intensity focused ultrasound (LIFU) and 5-aminolevulinic acid (5-ALA) medication on a pediatric patient. The treatment was done noninvasively through an intact skull.
(3 min. read)

8. COVID-19’s impact on pregnant women and their babies

In an editorial, Roberta L. DeBiasi, M.D., M.S., provided a comprehensive review of what is known about the harmful effects of SARS-CoV-2 infection in pregnant women themselves, the effects on their newborns, the negative impact on the placenta and what still is unknown amid the rapidly evolving field.
(2 min. read)

9. Staged surgical hybrid strategy changes outcome for baby born with HLHS

Doctors at Children’s National used a staged, hybrid cardiac surgical strategy to care for a patient who was born with hypoplastic left heart syndrome (HLHS) at 28-weeks-old. Hybrid heart procedures blend traditional surgery and a minimally invasive interventional, or catheter-based, procedure.
(4 min. read)

10. 2022: Pediatric colorectal and pelvic reconstructive surgery today

In a review article in Seminars in Pediatric Surgery, Marc Levitt, M.D., chief of the Division of Colorectal and Pelvic Reconstruction at Children’s National, discussed the history of pediatric colorectal and pelvic reconstructive surgery and described the key advances that have improved patients’ lives.
(11 min. read)

Staphylococcus aureus

Microbiological diagnoses and clinical outcomes for acute hematogenous osteomyelitis

Staphylococcus aureus

Acute hematogenous osteomyelitis is an infection that occurs in the bone and is most commonly caused by the pathogen Staphylococcus aureus.

Hospital length of stay (LOS) was shorter and odds of receiving three or more unique antibiotics for acute hematogenous osteomyelitis (AHO) was lower in culture-negative patients versus culture-positive patients, according to findings presented by researchers at Children’s National Hospital. The data was presented as part of a poster presentation at the ID Week 2022 conference.

AHO is an infection that occurs in the bone and is most commonly caused by the pathogen Staphylococcus aureus. AHO affects about 2-13 children per 100,000 in developed countries each year.

“For most patients with acute hematogenous osteomyelitis, the antibiotics we treat them with are empiric antibiotics – that is, our “best guess” at what antibiotic they should be on – as opposed to “definitive” antibiotics based on microbiologic results,” says Rana Hamdy, M.D., M.S.C.E., M.P.H., director of the Antimicrobial Stewardship Program at Children’s National Hospital and one of the authors of the study. “But with increasing antibiotic resistance, sometimes our “best guess” is wrong and that could lead to longer hospital length of stay and multiple changes in antibiotic regimens for some patients.”

She continues, “For this reason, the 2021 Pediatric Infectious Diseases Society clinical practice guidelines for patients with bone and joint infections suggest performing a bone biopsy when feasible to be able to have culture results to help guide the antibiotic choices.”

Blood and bone cultures may identify causative pathogens and determine antibiotic susceptibilities but obtaining bone cultures is an invasive procedure that carries risks including bleeding and the risk of sedation for the procedure.

The retrospective study included 367 patients under age 21 admitted to Children’s National Hospital from January 2010 – June 2020 with a final clinician’s diagnosis of AHO. Of the 367 patients, 210 (57.2%) had at least one positive culture result, 151 patients (41.1%) had all negative cultures, and 6 (1.6%) patients had no blood, bone or synovial fluid cultures obtained. About 83% of patients with positive culture were identified as having Staphylococcus aureus infections. Specifically, about 24% of identified pathogens were methicillin-resistant Staphylococcus aureus (MRSA).

In this population being culture-negative was associated with shorter LOS and lower odds of receiving three or more unique antibiotics.

“Our study disproved our hypothesis that patients without positive cultures would have longer hospital length of stay; however, because it was a retrospective study, there was the potential for additional confounding factors that we may not have been able to adjust for,” Dr. Hamdy adds.

Boy on e-scooter with Mom

E-scooter bone injuries on the rise

Over the past decade, electric scooters (e-scooters) have been increasing in popularity across the country. But with their popularity, visits to the hospital have also been on the rise. According to a new abstract, e-scooter injuries are becoming much more common and increasingly severe.

Authors of the abstract, “National Trends in Pediatric e-Scooter Injury,” found hundreds of e-scooter injuries between 2011-2020.

Boy on e-scooter with Mom

Over the years, e-scooter injuries are becoming much more common and increasingly severe.

The findings show that the rate of hospital admittance for patients increased from fewer than 1 out of every 20 e-scooter injuries in 2011 to 1 out of every 8 requiring admittance into a hospital for care in 2020.

“The number of annual e-scooter injuries has increased from 2011 to 2020, likely due in some part to the rise in popularity of rideshare e-scooter apps,” said lead author Harrison Hayward, M.D., Emergency Medicine fellow at Children’s National Hospital. “Our study has characterized the spectrum of injuries that occur in children, which helps emergency room doctors prepare for taking care of them and helps parents and families to practice better safety.”

The most common injuries were arm fractures (27%), followed by minor abrasions (22%) and lacerations needing stitches (17%). The average age was 11.1 years and 59% of patients were male.

With the alarming rise in injuries, Dr. Hayward and other experts are saying the use of helmets are a must since over 10% of the reported cases were head injuries.

“Research has broadly demonstrated that helmets save lives for bicycle riders, and we should think similarly about e-scooters,” he said.

You can read more about the findings on the American Academy of Pediatrics website.

NCC PDI 2022 pitch competition winners

Five winners selected in prestigious pediatric device competition

The National Capital Consortium for Pediatric Device Innovation (NCC-PDI) announced five awardees chosen in its prestigious “Make Your Medical Device Pitch for Kids!” competition. Each received a share of $150,000 in grant funding from the U.S. Food and Drug Administration (FDA), with awards ranging from $20,000 to $50,000 to support the advancement of pediatric medical devices.

Consistent with its mission of addressing the most pressing pediatric device needs, this year’s competition, moderated by MedTech Innovator, welcomed medical device technologies that address the broad unmet needs of children. The pediatric pitch event was part of the 10th Annual Symposium on Pediatric Device Innovation, co-located with the MedTech Conference, powered by AdvaMed.

This year’s pediatric device innovation awardees are:

  • CorInnova – Houston, TX – Minimally invasive biventricular non-blood contacting cardiac assist device to treat heart failure.
  • Innovation Lab – La Palma, CA – Mechanical elbow brace stabilizes tremors for pediatric ataxic cerebral palsy to improve the performance of Activities of Daily Living (ADLs).
  • Prapela – Biddeford, ME – Prapela’s incubator pad is the first innovation to improve the treatment of apnea of prematurity in over twenty years.
  • Tympanogen – Richmond, VA – Perf-Fix replaces surgical eardrum repair with a nonsurgical clinic procedure
  • Xpan – Concord, Ont. – Xpan’s universal trocar enables safest and most dynamic access and effortless upsizing in conventional/mini/robotic procedures.

“We are delighted to recognize these five innovations with critical NCC-PDI funding that will support their journey to commercialization. Improving pediatric healthcare is not possible without forward-thinking companies that seek to address the most dire unmet needs in children’s health,” says Kolaleh Eskandanian, Ph.D., M.B.A, P.M.P, vice president and chief innovation officer at Children’s National Hospital and principal investigator of NCC-PDI. “We know all too well how challenging it is to bring pediatric medical devices to market, which is why we have created this rich ecosystem to identify promising medical device technologies and incentivize investment. We congratulate this year’s winning innovators and applaud their efforts to help bridge these important care gaps that are impacting children.”

Empowering Innovators

NCC-PDI is one of five consortia in the FDA’s Pediatric Device Consortia Grant Program created to support the development and commercialization of medical devices for children, which lags significantly behind the progress of adult medical devices. NCC-PDI is led by the Sheikh Zayed Institute for Pediatric Surgical Innovation at Children’s National and the A. James Clark School of Engineering at the University of Maryland, with support from partners MedTech Innovator and design firm Archimedic.

A pediatric accelerator program, powered by MedTech Innovator, the largest medical device accelerator in the world, is a key part of the network of resources and experts that NCC-PDI provides in support of pediatric innovators. All five of this year’s competition finalists had an opportunity to participate in the year-long accelerator program.

To date, NCC-PDI has mentored 250 medical device projects to help advance their pediatric innovations throughout all stages of the total product life cycle (TPLC).

Eskandanian adds that supporting the progress of pediatric innovators is a key focus of the new Children’s National Research & Innovation Campus, a one-of-its-kind ecosystem that drives discoveries that save and improve the lives of children. On a nearly 12-acre portion of the former, historic Walter Reed Army Medical Center in Northwest Washington, D.C., Children’s National has combined its strengths with those of public and private partners, including industry, universities, federal agencies, start-up companies and academic medical centers. The campus provides a rich environment of public and private partners which, like the NCC-PDI network, will help bolster pediatric innovation and commercialization.

NCC PDI 2022 pitch competition winners

A total of $150K was awarded to five pediatric innovations during the medical device pitch competition at the 10th Annual Symposium on Pediatric Device Innovation, hosted by the National Capital Consortium for Pediatric Device Innovation (NCC-PDI). Award winners include (from left to right): Zaid Atto, founder and CEO at Xpan; John Konsin, CEO and co-founder of Prapela; Elaine Horn-Ranney, co-founder and CEO at Tympanogen; William Altman, CEO at CorInnova; and Sharief Taraman, pediatric neurologist at CHOC and University of California-Irvine partnering with Innovation Lab. (Photo credit: Children’s National Hospital)

boy with cerebral palsy

Race and salvage hip procedures in cerebral palsy

boy with cerebral palsy

The authors discovered that Black patients had an increased risk compared to white patients of undergoing a salvage procedure for hip dysplasia.

A new study by Children’s National Hospital orthopedic surgeon Sean Tabaie, M.D., FAAOS, examined whether or not race is an independent risk factor for patients with cerebral palsy to undergo a salvage hip procedure or experience postoperative complications for hip dysplasia treatment.

Due to tone issues, patients with cerebral palsy are specifically prone to hip dislocation. Treatment modalities for these patients include preventive soft tissue release, reconstruction and salvage procedures. Reconstructive surgery of the hip joint is considered the gold standard with the goal of producing a mobile and painless hip. Salvage procedures are defined as operations that are used after there has been permanent changes to anatomy of the femur and/or pelvis. In the case of patients with cerebral palsy, when hip reconstruction is no longer an option, salvage procedures are considered a last resort, if not a radical solution, to improve quality of life and pain relief.

Using the American College of Surgeons National Surgical Quality Improvement Program (NSQIP) Pediatric database, Dr. Tabaie and colleagues examined data from 3,906 patients with cerebral palsy between the ages of 2 and 18 years undergoing a procedure for hip dysplasia. They discovered that Black patients had an increased risk compared to white patients of undergoing a salvage procedure for hip dysplasia. Additionally, Black patients were found to have an increased risk of any postoperative complication compared to white patients. Fortunately, there were no significant findings between the race and risk of surgical site complications, unplanned readmissions or reoperations.

The authors conclude that, “After controlling for variability in baseline characteristics, the present results suggest that patient race is independently associated with the risk of pediatric patients with cerebral palsy to both undergo a salvage hip procedure and to experience postoperative medical complications, with Black patients having increased odds for these unfavorable outcomes compared to white patients.”

Dr. Tabaie is the medical director of the Motion Capture and Gait Lab at The Fight for Children Sports Medicine Center at Children’s National Hospital as well as assistant professor of Orthopaedic Surgery and pediatrics co-chair of Diversity, Equity and Inclusion for the Joseph E. Robert Jr., Center for Surgical Care.

Read the full article, Race Is Associated With Risk of Salvage Procedures and Postoperative Complications After Hip Procedures in Children With Cerebral Palsy, in the Journal of Pediatric Orthopaedics.

US News Badges

Children’s National named to U.S. News & World Report’s Best Children’s Hospitals Honor Roll

US News BadgesChildren’s National Hospital in Washington, D.C., was ranked No. 5 nationally in the U.S. News & World Report 2022-23 Best Children’s Hospitals annual rankings. This marks the sixth straight year Children’s National has made the list, which ranks the top 10 children’s hospitals nationwide. In addition, its neonatology program, which provides newborn intensive care, ranked No.1 among all children’s hospitals for the sixth year in a row.

For the twelfth straight year, Children’s National also ranked in all 10 specialty services, with seven specialties ranked in the top 10.

“In any year, it would take an incredible team to earn a number 5 in the nation ranking. This year, our team performed at the very highest levels, all while facing incredible challenges, including the ongoing pandemic, national workforce shortages and enormous stress,” said Kurt Newman, M.D., president and chief executive officer of Children’s National. “I could not be prouder of every member of our organization who maintained a commitment to our mission. Through their resilience, Children’s National continued to provide outstanding care families.”

“Choosing the right hospital for a sick child is a critical decision for many parents,” said Ben Harder, chief of health analysis and managing editor at U.S. News. “The Best Children’s Hospitals rankings spotlight hospitals that excel in specialized care.”

The annual rankings are the most comprehensive source of quality-related information on U.S. pediatric hospitals and recognizes the nation’s top 50 pediatric hospitals based on a scoring system developed by U.S. News.

The bulk of the score for each specialty service is based on quality and outcomes data. The process includes a survey of relevant specialists across the country, who are asked to list hospitals they believe provide the best care for patients with the most complex conditions.

The seven Children’s National specialty services that U.S. News ranked in the top 10 nationally are:

The other three specialties ranked among the top 50 were cardiology and heart surgerygastroenterology and gastro-intestinal surgery, and urology.

MRI Room

Children’s National uses HIFU to perform first ever non-invasive brain tumor procedure

MRI Room

Children’s National Hospital successfully performed the first-ever high-intensity focused ultrasound (HIFU) procedure on a pediatric patient with neurofibromatosis (NF). This is the youngest patient to undergo HIFU treatment in the world. Image provided by Insightec.

Children’s National Hospital successfully performed the first-ever high-intensity focused ultrasound (HIFU) procedure on a pediatric patient with neurofibromatosis (NF). This is the youngest patient to undergo HIFU treatment in the world. The advancement of children’s medical devices in the U.S. continues to significantly lag behind adult devices. This is why this milestone marks a significant advance in making pediatric surgery more precise and less invasive.

The hospital is offering this treatment to patients under an ongoing research clinical trial. Children’s National is one of the first pediatric hospitals in the nation to use HIFU for neuro-oncology patients. It’s also the first hospital in the world to use it to treat a pediatric patient with NF. NF is a condition that occurs in approximately 1 in 3,500 births and causes tumors to form in the brain, spinal cord and nerves.

“Using HIFU to treat our pediatric patients is a quantum leap towards non-invasive surgery for kids,” said Robert Keating, M.D., division chief of Neurosurgery and co-director of the HIFU program at Children’s National. “It’s exciting because the future is now here and it’s significantly better for our kids, in terms of non-invasive surgery with lower risk of complications and no exposure to radiation.”

Focused ultrasound (FUS) is a non-invasive therapeutic technology with the potential to transform the treatment of many medical disorders by using ultrasonic thermal energy to specifically target tissue deep in the body. The technology can treat without incisions or the need of radiation.

FUS, which has been used for adult clinical trials for many decades, can be delivered through high- or low-intensity focused ultrasound (LIFU). HIFU uses non-invasive therapy that uses focused ultrasound waves to thermally ablate a focal area of tissue. Children’s National will now use HIFU to treat low-grade type tumors located in difficult locations of the brain, such as hypothalamic hamartomas and pilocytic astrocytoma, as well as for movement disorders and epilepsy.

An alternative approach, LIFU uses lower levels of energy to disrupt the blood-brain barrier. Unlike medications, which often have difficulty crossing the blood-brain barrier, LIFU can transiently open the blood-brain barrier to chemotherapy. This may allow more effective treatment of tumors and offer opportunities to treat, for the first time, the entire extent of a malignant brain tumor.

“Having focused ultrasound technology as a tool and conducting clinical trials will allow our neurologists and oncologists to offer a non-invasive treatment option to many patients who suffer from neurological conditions,” said Hasan Syed, M.D., co-director of the HIFU program at Children’s National. “The milestone of performing this first HIFU procedure will lead the way to better understanding of the effect of this technology and provide patients with more options.”

At Children’s National, the HIFU program is being led by Dr. Keating and a multidisciplinary team, including clinicians and investigators from the Sheik Zayed Institute for Pediatric Innovationradiologyoncologysurgery and orthopedics. In an effort to collaborate with the region’s adult hospitals, Children’s National will also treat adult patients on a selective basis who have movement disorders such as essential tremor and Parkinson’s. There is a scarcity of similar resources in the metro region. Many adult patients face one-year wait periods for treatment of their movement disorders, requiring many to travel out of state for treatment.

The LIFU program is scheduled to be operational in 2022. It will likely be the first in the U.S. to treat high-grade pediatric brain tumors with disruption of the blood-brain barrier and provide more effective routes for chemotherapy as well as potential immunotherapy and molecular approaches.

“The use of LIFU with microbubbles to open up the blood-brain barrier is an exciting, potentially game-changing approach for children with these tumors,” said Roger Packer, M.D., senior vice president of the Center for Neurosciences and Behavioral Medicine at Children’s National. “It should safely allow the blood-brain barrier to open and allow delivery of potentially life-saving personalized therapy to the tumor and spare the rest of the brain. It is the most exciting, new development in brain tumor therapy for these malignant midline tumors in the past 50 years.”

Children’s National continues to be a leader in pediatric HIFU use. In 2015, Children’s National doctors became the first in the U.S. to use MR-HIFU to treat pediatric osteoid osteoma – a benign, but painful bone tumor. Successful clinical trial results led to FDA approval in early 2021 for the use of the technology for this treatment. In 2020, the Focused Ultrasound Foundation also designated Children’s National as the first global pediatric Center of Excellence for using this technology to help patients with specific types of childhood tumors.

inside the sports medicine center

Children’s National launches premier pediatric sports medicine center

inside the sports medicine center

The center houses orthopaedic surgeons, sports medicine physicians, physical therapists and imaging specialists and includes sports performance and injury prevention programs, a state-of-the-art rehabilitation and training gym and a motion capture lab for traditional 3D gait analysis and sports performance improvement.

The Fight For Children Sports Medicine Center at Children’s National is the first facility of its kind dedicated solely to young athletes in the Washington, D.C., region and serves as a one-stop shop for children’s athletic endeavors. The center houses orthopaedic surgeons, sports medicine physicians, physical therapists and imaging specialists and includes sports performance and injury prevention programs, a state-of-the-art rehabilitation and training gym and a motion capture lab for traditional 3D gait analysis and sports performance improvement.

“Children are not just small adults. They are their own entity and have concerns that are specific to them. We’ve developed the center in a way that focuses on young and adolescent athletes,” says Matthew Oetgen, M.D., M.B.A., division chief of Orthopaedic Surgery and Sports Medicine at Children’s National Hospital. “It’s not just about treating the injury — it’s about getting them rehabbed and instilling the confidence that they can get back and play sports again and that there’s not going to be another issue that we can’t solve together.”

Taking care of an athlete and improving their performance includes many steps and providers. The Fight For Children Sports Medicine Center offers integrated care that allows children to recover from injuries, improve their performance and prevent future injuries all under one roof. This makes the treatment plan more cohesive for the care team and more convenient for patients and families.

The Fight For Children’s Sports Medicine Center is now accepting patients in Silver Spring, MD. Visit our website to learn more.

Sean Tabaie

Sean Tabaie, M.D., discusses the diagnosis and treatment of Osgood-Schlatter disease

Osgood-Schlatter disease (OSD) occurs when there’s an inflammation of the area just below the knee where the patellar tendon attaches to the tibia. It commonly occurs in adolescents during growth spurts, causing knee pain. Children who participate in sports or activities that involve a lot of running or jumping are at an increased risk of developing OSD.

Sean Tabaie, M.D., pediatric orthopaedic surgeon at Children’s National Hospital, spoke to KinectMD about OSD symptoms, diagnosis and treatment. Watch the interview below.

Hand using laptop and press screen to search

An assessment of orthopedic surgery residency program websites

Hand using laptop and press screen to search

The competitiveness of the orthopedic surgery specialty combined with the unclear impact of the COVID-19 pandemic on residency recruitment has presented significant challenges to applicants and residency program directors during the pandemic. With limited in-person opportunities in the 2020-2021 application cycle, applicants have had to gauge chances and best fit by browsing program websites.

In an observational study published in the Journal of Medical Internet Research Medical Education, Sean Tabaie, M.D., orthopaedic surgeon at Children’s National Hospital, and co-authors assessed the accessibility and content of accredited orthopedic surgery residency program websites during the COVID-19 pandemic.

The authors looked at a total of 189 accredited orthopedic surgery residency programs that were identified using the online database of the Electronic Residency Application Service (ERAs). They found that most residency program websites offered program details and an overview of educational and research opportunities, however, few addressed the virtual transition of interviews and sub-internships during the COVID-19 pandemic.

Read the full article in the Journal of Medical Internet Research Medical Education.

x-ray of child with dislocated hip

Hip surveillance helps identify dislocations in children with cerebral palsy

x-ray of child with dislocated hip

Hip surveillance is a process used to monitor the hips closely and frequently, identifying the problems earlier.

Children with cerebral palsy (CP) have an increased risk for hip displacement. Hip displacement in children with CP can happen slowly over time and can be painful, but a hip surveillance program can prevent this. Hip surveillance is a process used to monitor the hips closely and frequently, identifying the problems earlier. It is an ongoing process that continues for every child until skeletal maturity.

“Every child with cerebral palsy should be referred for hip surveillance regardless of determination by the Gross Motor Function Classification System,” said Sean Tabaie, M.D., orthopaedic surgeon at Children’s National Hospital.

Dr. Tabaie created a hip surveillance manual for primary care providers who care for this patient population. In most cases, these patients are monitored and followed closely by their primary care team. Education material regarding hip surveillance, including the background knowledge, is often not available to those practitioners in a concise format. To successfully initiate a hip surveillance program, it is important to promote education and provide the appropriate materials to that group of practitioners.

“Our goal is to improve the care of children with cerebral palsy by decreasing the overall presentation of dislocated hips in our clinic settings and promote the appropriate timing of referrals for evaluation of hip subluxation secondary to cerebral palsy or neuromuscular conditions,” said Tabaie.

Download the Surveillance Guidelines for Children with Cerebral Palsy here.

Midsection of a handicapped man and woman

Increasing the patient’s voice in osteogenesis imperfecta research and care

Midsection of a handicapped man and woman

The Osteogenesis Imperfecta Foundation Patient-Centered Outcomes Research Project brought patient voices into efforts to improve patient-centered outcomes research and education in osteogenesis imperfecta.

Rare bone diseases constitute about 5% of all known rare diseases. Osteogenesis imperfecta (OI) is a group of genetic disorders causing connective tissue dysfunction and bone fragility, affecting an estimated 25,000 to 50,000 people in the U.S. Many patients with rare diseases, including those with conditions like OI, suffer from delays in diagnosis and lack of access to the complex multidisciplinary care they require.

Children’s orthopaedic surgeon Laura Tosi, M.D., is the co-lead of a two-year program, Osteogenesis Imperfecta Foundation Patient-Centered Outcomes Research Project. The now completed program brought patient voices into efforts to improve patient-centered outcomes research and education in osteogenesis imperfecta.

Increasingly, the OI community has become more vocal about its need for information and options for evidence-based care. Research about this condition often lacks the patient’s voice. Collecting the patient’s perspective about natural history, clinical best practices, quality of life and research priorities is challenging because, like so many rare diseases, the affected population is relatively small and geographically dispersed.

“We were excited that so many members of the OI community (patients, caregivers, clinicians, and researchers) stepped up to help us with this work for the last two years,” said Dr. Tosi. “They served on committees, completed surveys, and attended training sessions to learn more about patient-centered outcomes research.”

The program accomplished many goals, including creating a community of stakeholders who are trained in patient-centered outcomes research, with specific attention to priority topics identified by the OI community.

“We believe that attention to the broad impact of OI on patients’ lives, from patients’ perspectives, is urgently needed to better inform assessment, care and comparative effectiveness recommendations across the life span,” said Dr. Tosi.

The program considered the patients’ perspective and encouraged a collaborative effort among Children’s National Bone Health Program staff, geneticists, endocrinologists and other specialists to achieve rapid, accurate diagnosis that facilitates individualized care.

“Advances in knowledge can and will happen faster when more people participate in research from the outset,” said Dr. Tosi. “This means not just shaping the questions but also gaining the ability to understand and interpret the impact of such investigations.”

The program also expanded the communications and education strategies related to patient-centered outcomes, even during COVID-19.

The pandemic positively influenced the program’s educational efforts, Dr. Tosi added. The difficulties that emerged in the early months of the pandemic helped capture the community’s attention as they discussed the importance of the program. Through a COVID-19 supplemental award, the program gained more resources to expand the scope of the original education efforts.

With the new challenges and the possible physical and mental health threats that the pandemic posed to people with OI, including isolation and social distancing, the team used engagement strategies to raise awareness of the COVID-19 hazards, disseminated best practices for responses, and enhanced communications between stakeholders. The researchers were able to:

  1. Expand virtual meetings, which allowed them to reach a wider range of patients.
  2. Create and disseminate COVID-19 content (e.g., prophylactic care, symptoms, diagnosis, treatment, outcomes).
  3. Use their existing OI Registry to document and track evolving issues such as more difficult access to medical care (or other necessary services), “daily living” concerns or burdens, and options for safe “return to work” and American Disabilities Act “work accommodations.”
  4. Gather information on therapeutic options (e.g., pros and cons of medicines, counseling, telemedicine) and their potential to mitigate the health problems that isolation and social distancing create.
  5. Develop tools to prepare the community for telemedicine, with emphasis on educating health professionals about patients’ higher vulnerability to coronavirus.

While the outcomes of this initiative were overwhelmingly positive, the researchers are also considering some changes, such as implementing “hybrid” models of in-person and remote meetings in the future.

Dr. Tosi served as project co-lead alongside colleagues Tracy Hart, project lead, from the Osteogenesis Imperfecta Foundation (OIF) and Bryce Reeve, Ph.D., co-project lead, director of the Center for Health Measurement at Duke University.

Matthew Oetgen

Matthew Oetgen, M.D., M.B.A, lauded for paper on treating Compartment Syndrome

Matthew Oetgen

For his work in advancing the care for children with complex orthopaedic needs, Matthew Oetgen, M.D., M.B.A., chief of Orthopaedics at Children’s National Hospital, recently accepted the award for Best Basic Science Paper at the 2021 Pediatric Orthopaedic Society of North America (POSNA) annual meeting. Dr. Oetgen co-authored the paper titled “Activation of A Central Immunosuppressive Cascade Prevents Ischemia Reperfusion Injury after Acute Compartment Syndrome in a Murine Model.”

Compartment Syndrome is rare and often difficult to diagnose. It occurs when interstitial pressure exceeds perfusion pressure and results in warm ischemia and cell death due to impaired aerobic metabolism. Following surgical decompression and reperfusion of the extremity, a robust innate inflammatory response results in further tissue injury due to the production of reactive oxygen species and local capillary dysfunction.

The authors described using varenicline, an FDA-approved medication for smoking cessation, to mitigate inflammation after ischemia reperfusion injury in murine models. Twenty-four hours after reperfusion, the treatment reduced acute leukocyte infiltrate, 7 days following reperfusion, the expression of pro-fibrotic genes was reduced and 14 days following treatment, histologic evidence of collagen deposition was also significantly reduced.

“The promising results of this study show that this medication may have the potential to blunt the immune response resulting in better outcomes for children with compartment syndrome,” says Dr. Oetgen.

Watch Dr. Oetgen’s presentation here.

x-ray of a fracture

Genetic disorders, including osteogenesis imperfecta, rarely mimic child abuse

x-rays of fractures

In suspected child abuse cases, pediatric specialists are often called for clinical consultations or subpoenaed to courtrooms to discuss unexplained fractures and hemorrhage. During routine clinical practice, Children’s National Hospital (CNH) geneticists, child abuse pediatricians, orthopedists and radiologists use a multidisciplinary, stepwise approach that differentiates genetic disorders from cases of suspected child abuse. These teams provide a clear process for when clinical and radiological review suffices versus cases when judicious use of genetic testing and biochemical testing should be considered.

Every year, approximately 675,000 children suffer abuse or neglect, and at least 1,700 die from abuse — one of the leading causes of childhood morbidity and mortality nationwide.

Ill-intended arguments regarding genetic disorders often reach the court. Out of the 7,000 known rare diseases, rare bone diseases constitute about 5% of the cases. When there are true genetic disorders like osteogenesis imperfecta (OI), a group of genetic disorders that cause fractures, orthopedic specialists help tremendously with diagnosis and treatment.  The Children’s National Bone Health Program specializes in caring for healthy children, children with genetic bone conditions, and children whose bones have been damaged from illness or poor nutrition. Their team of experts enhances treatment to meet the needs of each child help us provide the best possible care for children with a broad range of bone health conditions  When a rare condition that causes bone fragility is suspected, these teams work together to provide proper diagnosis and management.

“OI is a diagnosis that can be made clinically with the help of geneticists, radiologists and orthopedists,” said Tanya Hinds, M.D., a child abuse pediatrician at Children’s National. “Outside of the newborn period, multiple unexplained fractures in infants with radiologically normal bones is suspicious for child physical abuse, not OI.”

When these regional cases reach the courtroom, Children’s National pediatricians often serve as clinician-educators and expert witnesses. According to Children’s National experts, clinicians must share the best available medical practices in both the hospital and courtroom.  Unfortunately, in some cases around the country, a handful of expert medical witnesses provide unique and unsubstantiated opinions, sometimes claiming the presence of a rare genetic disorder as a cause of fracture or hemorrhage, when this has not been diagnosed by mainstream genetics specialists.

“On the part of expert witnesses, scientifically sound explanations versus unfounded hypotheses can influence outcomes in civil proceedings, which determine a child’s placement and criminal proceedings, which determine judgment on the perpetrators,” said Natasha Shur, M.D., medical geneticist at Children’s National, and Nathaniel Robin, M.D., professor and clinical genetics director at the University of Alabama in an editorial published in Current Opinion in Pediatrics.

Dr. Hinds works on behalf of children to provide the best and most comprehensive work-up in cases of unexplained fractures or hemorrhage. As a board-certified child abuse pediatrician, she is responsible for implementing the evidence-based practice guidelines of the American Academy of Pediatrics and other similar societies.  Dr. Hinds mentioned that it is possible to use medical history, physical examination and diagnostic testing to differentiate traumatic causes of fractures and subdural hematomas from genetic causes, a belief she states is held by the vast majority of child serving clinicians.

“In cases of suspected child abuse, a multidisciplinary group of clinicians at Children’s National routinely provide comprehensive and top-rate care and consider alternative explanations for fractures,” said Eglal Shalaby-Rana, M.D., a radiologist at Children’s National who has partnered with the hospital’s Child and Adolescent Protection Center team on these challenging cases since 1991. “A multidisciplinary team is crucial to the evaluation and often includes additional specialists such as pediatric radiology, trauma surgery, hematology and in some cases genetics.”

Further, these clinician-educators and researchers at Children’s National call for increased publication and use of consensus guidelines such as the consensus statement on abusive head trauma published in Pediatric Radiology in 2018.  “Consensus guidelines synthesize the best available medical evidence and should be the basis for both clinical practice and education offered in the courtroom,” said Drs. Shur, Hinds and Shalaby-Rana.

 Distinguishing child abuse from genetic disorders

Drs. Hinds, Shalaby-Rana and Shur have served as expert witnesses and in turn wanted to come together to help develop frameworks that share scientifically sound information with peers who might encounter spurious arguments in courtrooms regarding genetic disorders as an explanation for physical abuse and inflicted fractures. Their 2021 literature review, published in Current Opinion in Pediatrics, addresses some of these issues.

To help distinguish child physical abuse from a genetic disorder, Drs. Shur, Hinds and Shalaby-Rana  worked as a multidisciplinary team to highlight best practices in six instances when genetic disorders were raised as explanations for inflicted fractures or hemorrhage, including Elhers-Danlos syndrome (EDS), osteogenesis imperfecta (OI), Menkes Disease and Glutaric Acidemia type I. In some cases, these explanations could be reasonable but should be diagnosed using routine clinical and radiological review, and when indicated, genetic and biochemical testing.

For instance, EDS is a diagnosis that is sometimes erroneously used to explain multiple fractures in cases of suspected physical abuse and can be misused in courtrooms. The most common EDS type is hypermobile EDS, often found in late adolescence or early adulthood. In some cases, babies erroneously receive hypermobility exams, or clinicians perform hypermobility assessments on parents of children with unexplained fractures — neither practice is indicated. Instead, the Children’s National team points out that children should receive a medical evaluation using the standard guidelines set by the American Academic of Pediatrics, American College of Radiology and other professional societies.

Dr. Shur also collaborated with radiologists at Boston Children’s Hospital in a related review published in Pediatric Radiology. There, George et al. addressed the clinical and molecular diagnosis criteria for EDS to help radiologists prevent misdiagnosis and support clinicians when seeing patients with multiple fractures.

“It is disturbing that the unsubstantiated EDS infant bone fragility hypothesis continues to be advanced in civil and criminal child abuse proceedings when fractures are not part of the diagnosis criteria for EDS,” said George et al.

The clinicians noted that the Beighton score, which helps diagnose hypermobile EDS, is not intended for children younger than 8 years old. Additionally, since the score provides insufficient data, other EDS features must be present, such as skin findings and connective tissue abnormalities.

OI, known as ‘‘brittle bone disease,’’ is a group of disorders that rarely present only with unexplained fractures. The researchers emphasize that infants and children with mild OI do not present exclusively with multiple fractures, which are specific to physical abuse such as multiple, bilateral rib fractures and classic metaphyseal lesions. Drs. Shur, Hinds and Shalaby-Rana share that pediatric specialists could overcome the diagnostic challenges between OI and child abuse through the inclusion of a genetic team in some cases, during the medical evaluation while also considering various criteria, such as family history, physical examination and laboratory findings. Molecular testing may be required in some instances, but it cannot substitute traditional clinical and radiology evaluations, according to these clinician-researchers.

Similarly, while Menkes disease can present with intracranial hemorrhage and fractures like child physical abuse, there are other distinguishing characteristics unique to Menkes disease, such as hair and facial dysmorphism. In a third related case-review published in Pediatric Radiology, Shur, Hinds and Shalaby-Rana et al. emphasize that diagnostic difficulties may arises when a multidisciplinary evaluation is omitted. They call upon all clinicians to provide ethical testimony in civil or criminal proceedings and to continue to utilize a multidisciplinary approach during daily clinical practice.

Irresponsible testimony and predatory journals

According to George et al., in collaboration with Dr. Shur, there are flawed publications on EDS associated with infant bone fragility that do not follow the gold standard of the scientific community. They believe this hypothesis must be rejected by experts in the field of pediatric imaging to safeguard the scientific integrity of the discipline. The lack of scientific design, peer review process and transparency causes negative consequences in the courtroom and threatens the proper adjudication of cases of suspected child physical abuse.

“Irresponsible testimony increasingly enters medico-legal proceedings dealing with allegations of child abuse, and so-called expert witnesses regularly cite these deeply flawed publications — in addition to misquoting the medical literature, loosely interpreting medical findings, presenting fictitious findings, and excluding salient and widely accepted facts from consideration,” said George et al.

In these pieces of literature, our Children’s National multidisciplinary team members reviewed the best available evidence and their collective decades of patient experience to highlight standard processes, which differentiate child physical abuse as a cause of fractures and hemorrhage from rare disorders.  Rare does not mean mysterious, and with education and a multidisciplinary approach, every child can receive the best possible medical work-up and care, according to Drs. Shur, Hinds and Shalaby-Rana. They urge all physicians to share only mainstream clinical medicine in the courtroom to help ensure the best possible social outcomes for children and their families.

red flags for irresponsible testimony

US News badges

For fifth year in a row, Children’s National Hospital nationally ranked a top 10 children’s hospital

US News badges

Children’s National Hospital in Washington, D.C., was ranked in the top 10 nationally in the U.S. News & World Report 2021-22 Best Children’s Hospitals annual rankings. This marks the fifth straight year Children’s National has made the Honor Roll list, which ranks the top 10 children’s hospitals nationwide. In addition, its neonatology program, which provides newborn intensive care, ranked No.1 among all children’s hospitals for the fifth year in a row.

For the eleventh straight year, Children’s National also ranked in all 10 specialty services, with seven specialties ranked in the top 10.

“It is always spectacular to be named one of the nation’s best children’s hospitals, but this year more than ever,” says Kurt Newman, M.D., president and CEO of Children’s National. “Every member of our organization helped us achieve this level of excellence, and they did it while sacrificing so much in order to help our country respond to and recover from the COVID-19 pandemic.”

“When choosing a hospital for a sick child, many parents want specialized expertise, convenience and caring medical professionals,” said Ben Harder, chief of health analysis and managing editor at U.S. News. “The Best Children’s Hospitals rankings have always highlighted hospitals that excel in specialized care. As the pandemic continues to affect travel, finding high-quality care close to home has never been more important.”

The annual rankings are the most comprehensive source of quality-related information on U.S. pediatric hospitals. The rankings recognize the nation’s top 50 pediatric hospitals based on a scoring system developed by U.S. News. The top 10 scorers are awarded a distinction called the Honor Roll.

The bulk of the score for each specialty service is based on quality and outcomes data. The process includes a survey of relevant specialists across the country, who are asked to list hospitals they believe provide the best care for patients with the most complex conditions.

Below are links to the seven Children’s National specialty services that U.S. News ranked in the top 10 nationally:

The other three specialties ranked among the top 50 were cardiology and heart surgerygastroenterology and gastro-intestinal surgery, and urology.

Boy with scoliosis during rehabilitation

Children’s National first-use of anterior vertebral body tethering system for idiopathic scoliosis

Boy with scoliosis during rehabilitation

On Monday, Feb. 1, 2021, Children’s National Hospital performed the first anterior vertebral body tethering procedure for a child in the Washington, D.C., area. The device is a recently approved option for treating children with idiopathic scoliosis, the most common type of scoliosis. It allows for gradual correction of a spinal deformity through the natural growth of the spine, leading to improvements in spinal alignment while maintaining spinal flexibility.

In August 2019, the U.S. Food and Drug Administration (FDA) approved the first spinal tether system for pediatric patients called The Tether – Vertebral Body Tethering System. This device is attached to the spine during a minimally invasive thorascopic procedure performed by a multidisciplinary medical team, which includes orthopaedic surgery, thoracic surgery and anesthesia.

“This promising technology may help maintain the flexibility of the spine as it grows straighter over time,” says Matthew Oetgen, M.D., chief of Orthopaedics at Children’s National. “Novel devices like The Tether offer additional treatment options for idiopathic scoliosis, which have the potential to improve pediatric surgical outcomes and quality of life for children and adolescents with significant spinal deformities.”

The procedure at Children’s National brought together some the region’s best pediatric orthopaedic and thoracic surgeons, including Dr. Oetgen, Shannon Kelly, M.D., associate chief of Orthopaedic Surgery, and Timothy Kane, M.D., chief of General and Thoracic Surgery.

“Children’s National can offer these types of procedures because the hospital is home to many talented pediatric surgeons across specialties, many of whom are experts in minimally invasive techniques for children,” says Dr. Kane. “We collaborate together, often, because we know that’s the best way to continually improve the care we provide to children and their families.”

Idiopathic scoliosis is the most common type of scoliosis and can occur in children between age 10 and 18 or until they are fully grown. Spinal fusion surgery is the most common treatment for children with the most severe spine curvatures and continues to be the “gold standard” for surgical treatment of this condition. It takes about 3 months for a child or adolescent to fully recover from the procedure. While spinal fusion produces excellent and reproducible outcomes, in certain patients with less severe deformities and significant skeletal growth remaining, vertebral body tethering may offer some benefits over spinal fusion. In clinical trials, the spinal tether was shown to shorten recovery time and increase range of motion. Early diagnosis is vital to dictate which treatment will be most beneficial.

Karun-Sharma-and-kids-MR-HIFU

FDA approves MR-HIFU system to treat osteoid osteoma

Karun-Sharma-and-kids-MR-HIFU

“This FDA approval encourages and further motivates our focused ultrasound program to continue to develop and expand clinical applications of MR-HIFU in the pediatric population,”  said Karun Sharma, M.D., Ph.D.

After garnering successful clinical trial results at Children’s National Hospital, the United States Food and Drug Administration (FDA) recently announced the approval of Profound Medical’s Sonalleve MR-guided High Intensity Focused Ultrasound (MR-HIFU) system for the treatment of osteoid osteoma (OO) in the extremities. OO is a benign, but painful bone tumor that occurs most commonly in children and young adults. This marks the first focused ultrasound regulatory approval that will directly impact pediatric patients and it is the sixth indication to earn approval in the United States.

Nine patients were treated in a pilot trial designed to evaluate the safety and feasibility of MR-HIFU ablation treatment in patients with painful OO. The procedure was performed without any technical difficulties or serious adverse events in all nine patients, and resulted in complete pain relief with no further pain medication usage in eight out of nine patients.

“This FDA approval encourages and further motivates our focused ultrasound program to continue to develop and expand clinical applications of MR-HIFU in the pediatric population,” said Karun Sharma, M.D., Ph.D., director of Interventional Radiology and associate director of clinical translation at the Sheikh Zayed Institute for Pediatric Surgical Innovation (SZI) at Children’s National. “This completely non-invasive and radiation-free aspects of this therapy are especially relevant for growing children.”

Researchers at Children’s National have moved beyond OO are also evaluating MR-HIFU treatment for patients with relapsed and refractory bone and soft tissue tumors. “This is especially important as these patients don’t have any other good treatment options,” said Dr. Sharma. “For these tumors, we are using not only thermal ablation, but also other modes and biomechanisms of focused ultrasound such as mild hyperthermia to facilitate targeted, enhanced drug delivery and histotripsy (i.e., mechanical tissue fractionation) to enhance cancer immunotherapy. We also hope to move into MR-HIFU brain application in pediatrics.”

At Children’s National, a multidisciplinary team of physicians and scientists use MR-HIFU to focus an ultrasound beam into lesions to heat and destroy the tissue in that region, with no incisions at all. In 2015, Children’s National doctors became the first in the U.S. to use MR-HIFU to treat pediatric osteoid osteoma. The trial, led by Dr. Sharma, demonstrated early success in establishing the safety and feasibility of noninvasive MR-HIFU in children as an alternative to the current, more invasive approaches to treat these tumors. Since then, the Children’s National team has built an active clinical trials program and become a leader in translation of focused ultrasound for the treatment of relapsed pediatric solid tumors.

Lee Beers

Lee Beers, M.D., F.A.A.P, begins term as AAP president

Lee Beers

“The past year has been a stark reminder about the importance of partnership and working together toward common goals,” says Dr. Beers. “I am humbled and honored to be taking on this role at such a pivotal moment for the future health and safety of not only children, but the community at large.”

Lee Savio Beers, M.D., F.A.A.P., medical director of Community Health and Advocacy at the Child Health Advocacy Institute (CHAI) at Children’s National Hospital, has begun her term as president of the American Academy of Pediatrics (AAP). The AAP is an organization of 67,000 pediatricians committed to the optimal physical, mental and social health and well-being for all children – from infancy to adulthood.

“The past year has been a stark reminder about the importance of partnership and working together toward common goals,” says Dr. Beers. “I am humbled and honored to be taking on this role at such a pivotal moment for the future health and safety of not only children, but the community at large.”

Dr. Beers has pledged to continue AAP’s advocacy and public policy efforts and to further enhance membership diversity and inclusion. Among her signature issues:

  • Partnering with patients, families, communities, mental health providers and pediatricians to co-design systems to bolster children’s resiliency and to alleviate growing pediatric mental health concerns.
  • Continuing to support pediatricians during the COVID-19 pandemic with a focus on education, pediatric practice support, vaccine delivery systems and physician wellness.
  • Implementation of the AAP’s Equity Agenda and Year 1 Equity Workplan.

Dr. Beers is looking forward to continuing her work bringing together the diverse voices of pediatricians, children and families as well as other organizations to support improving the health of all children.

“Dr. Beers has devoted her career to helping children,” says Kurt Newman, M.D., president and chief executive officer of Children’s National. “She has developed a national advocacy platform for children and will be of tremendous service to children within AAP national leadership.”

Read more about Dr. Beer’s career and appointment as president of the AAP.

insta-3D™ imaging from company nView medical

New innovative 3D imaging technology used in pediatric spine surgery

insta-3D™ imaging from company nView medical

Children’s National Hospital performed the first surgical use of breakthrough medical imaging technology designed specifically for kids. The innovation, insta-3D™ imaging from company nView medical, is designed to make 3D images available in the operating room quickly and safely.

Children’s National Hospital performed the first surgical use of breakthrough medical imaging technology designed specifically for kids. The innovation, insta-3D™ imaging from company nView medical, is designed to make 3D images available in the operating room quickly and safely. The 3D images provide surgeons with better visualization, allowing them to continue improving patient care and outcomes.

Matthew Oetgen, M.D., division chief of Orthopaedic Surgery at Children’s National, is overseeing the first use of this 3D imaging technology in orthopaedic procedures.

“Having a technology like this available in the operating room will potentially help make our surgeries even more precise with 3D imaging available quickly,” says Dr. Oetgen. “We anticipate this improved precision will lead to better outcomes and added value to what we do for our patients.”

Cristian Atria, nView medical’s CEO, commented for the first case.

“Seeing our imaging technology provide critical information during a kid’s surgery reminds us what the purpose of nView medical is all about,” says Cristian. “I would like to thank the surgeons, our backers, the team, and our clinical partners for making this first surgery a success. I couldn’t be more enthusiastic for what’s ahead!”

The potential of nView medical’s insta-3D™ imaging is especially exciting for Children’s National as nView medical is a 2019 Winner of the National Capital Consortium for Pediatric Device Innovation (NCC-PDI) competition “Make Your Medical Device Pitch for Kids!” NCC-PDI is led by the Sheikh Zayed Institute for Pediatric Surgical Innovation at Children’s National and the A. James Clark School of Engineering at the University of Maryland with support from partners MedTech Innovator, BioHealth Innovation, and design firm Archimedic.

NCC-PDI is one of five members in the FDA’s Pediatric Device Consortia Grant Program created to support the development and commercialization of medical devices for children in areas of critical need where innovation can significantly improve children’s health care.

“Children deserve to benefit from our most advanced medical technologies and we know that improvements in pediatric care can make a positive difference over the lifetime of a child,” says Kolaleh Eskandanian, Ph.D., M.B.A, P.M.P, vice president and chief innovation officer at Children’s National and principal investigator of NCC-PDI. “Pediatric hospitals must lead the way in supporting innovation for children’s care. That’s why, through NCC-PDI and our innovation institute, Children’s National helps to provide promising new pediatric devices with resources and expertise that support their journey to the market.”

Dr. Laura Tosi talks to a patient

Refining criteria for childhood skeletal fragility and osteoporosis

Dr. Laura Tosi talks to a patient

Orthopaedic surgeon Laura Tosi, M.D., presented information about bone fractures and skeletal fragility in children at this year’s POSNA Annual Meeting.

It’s true that broken bones are often a typical part of childhood, says international bone health expert Laura Tosi, M.D., an orthopaedic surgeon at Children’s National Hospital. But for some children, a single bone fracture under the right circumstances may be a signal that a child needs a closer look to rule out underlying skeletal fragility.

Dr. Tosi presented on this topic as part of the Pediatric Orthopaedic Society of North America’s (POSNA) 2020 Annual Meeting. The presentations were conducted virtually this year due to COVID-19.

“We know that between 27 and 40% of girls, and 42 to 51 percent of boys will have at least one fracture during childhood,” she says. “What we have also seen over time is that almost 40 percent of children who have one fracture will have more. How do we tell which children with a fracture may need our help to avoid future ones?”

During her session, Dr. Tosi discussed how adding more nuance to clinical evaluation criteria for childhood fractures can help identify which children should be evaluated for conditions affecting bone density.

To widen the scope and make sure an underlying bone density issue is detected and treated as early as possible, Dr. Tosi says there are some specific findings that should suggest the need for further exploration:

  • Does the child have an a priori risk for a fragility fracture due to a genetic bone disorder(such as osteogenesis imperfects (aka brittle bone disease) or immobility caused by a disorder such as spina bifida, cerebral palsy or muscular dystrophy?
  • Is there a mismatch between the fracture severity and level of trauma that led to the injury?
  • Does the child’s history include any of four factors known to be associated with increased fracture risk: early age at the time of the first fracture, intolerance to cow’s milk, low dietary calcium intake or high BMI values.
  • Does the child have a vertebral compression fracture?
  • Is there a family history of frequent fractures (which may indicate a previously unidentified genetic condition)

Dr. Tosi also laid out specific evaluation steps for a skeletal fragility condition when a child’s fracture meets criteria, including:

  • Family, nutrition and exercise histories
  • A detailed physical exam
  • Complete radiograph review, including previously existing films and bone densitometry
  • Rule out rickets and child abuse
  • A complete lab work up

“It can be extremely challenging to identify if a child’s first bone fracture is a result of typical childhood activity or something else,” says Dr. Tosi. “But the risks of waiting to evaluate a fracture that meets some of the criteria above may mean we are delaying a treatment that might improve bone density and prevent a future fracture altogether — which is always what we’d hope to do.”

In the past, bone health experts felt that the word “osteoporosis” should not be used in children and pushed for the term “low bone density for age.”  That perspective has begun to change thanks to important advances in our understanding of the genetic basis of bone fragility, the important role of chronic conditions and how the use of bone-active medications can significantly reduce fracture risk and improve function in certain conditions.

She then spoke about the benefits of early detection for conditions causing skeletal fragility by presenting compelling evidence of the resiliency of a child’s bones when they are managed appropriately.

She noted that she’s seen significant bone remodeling in patients with serious bone degeneration due to osteogenesis imperfecta and leukemia, for example, thanks to early detection and treatment.

“Our knowledge of bone density and bone health is improving, but is still imperfect,” she concluded. “But as we learn more, and are able to appropriately identify and treat kids with skeletal fragility or osteoporosis earlier, we can continue to refine how we evaluate and care for all of them.”