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PEDIATRICS W I

A DVA NCING

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ADVANCING PEDIATRICS IS AVAILABLE ON YOUR IPAD!

REVOLUTIONIZING CARE FOR NEONATAL NEUROLOGICAL OUTCOMES

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SEE BACK PAGE FOR DETAILS.

THE EXPANDING ROLE OF GENETICS IN MEDICINE

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ADVANCING TREATMENT FOR CRITICAL CARDIAC NEEDS

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Leaders from across the nation recently came together for the second annual Pediatric Surgical Innovation Symposium.

A team of specialized urologists and orthopaedists is establishing a new treatment methodology for children born with bladder exstrophy.

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11 BLADDER EXSTROPHY

The Telemedicine Program extends clinical services to hospitals that are just a few miles away, as well as institutions located on the other side of the world.

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6 TELEMEDICINE

TABLE OF CONTENTS

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A researcher is studying diffuse intrinsic pontine gliomas (DIPG) in hopes of identifying targetable pathways and effective therapeutic treatments.

IPAD

VIDEO

RESEARCH

WEB RESOURCES

CHILDREN’S NATIONAL HEALTH System has long been at the forefront of pediatric medicine, pursuing innovative methods of diagnosis and treatment for even the youngest patients. So I’m pleased to share the winter issue of Advancing Pediatrics, which highlights several research and clinical initiatives with the potential to significantly improve our diagnostic capabilities and offer new, more effective options for care.

Children’s National has one of the nation’s few dedicated Neonatal Neurology programs, encompassing both clinical and research components and allowing us to significantly improve outcomes. This issue reports on a particularly exciting initiative aimed at understanding the influence of the placenta in fetal brain development with the goal of creating targeted therapies for brain injury.

Children’s National also is home to the Sheikh Zayed Institute for Pediatric Innovation, dedicated to making pediatric surgery more precise, less invasive, and pain free.

In this issue, we spotlight the institute’s

second annual Pediatric Surgical Innovation Symposium, which brought together leaders in pediatric medicine and research, the medical device industry, government, the legal community, and payers to share knowledge to improve device innovation and the pathways to commercialization.

Finally, I encourage you to read about the Telemedicine Program at Children’s National and the team’s success in extending our expertise beyond the greater Washington, DC, area. The program was founded nearly two decades ago and today connects Children’s National experts with medical facilities in 21 states and 19 countries. While the primary application lies in the diagnosis of cardiac and neurological conditions, Children’s National is expanding the technology to other fields, including dermatology, endocrinology, and genetics.

Thank you for your interest and your continued collaboration. We value our connection with you and our common goal of improving the health of our nation’s children.

Sincerely,

Kurt Newman, MD PRESIDENT AND CHIEF EXECUTIVE OFFICER

Mark Batshaw, MD EXECUTIVE VICE PRESIDENT AND PHYSICIAN-IN-CHIEF

Lauren Fisher VICE PRESIDENT OF COMMUNICATIONS, PUBLIC RELATIONS, AND MARKETING

Susan Muma MARKETING AND PHYSICIAN RELATIONS DIRECTOR

Sienna Tomko MANAGING EDITOR

IN PARTNERSHIP WITH TRUE NORTH Haley Johnson ACCOUNT MANAGER

Eric Jackson CREATIVE DIRECTOR

Amy Walters DESIGNER

Angela Williams EDITORIAL DIRECTOR

Kurt Newman, MD

Thomas Crocker, Michael Ferguson, Valerie Lauer, Katy Mena-Berkley, Melissa Moore, Tiffany Parnell, Colin Stayton, Rachel Stewart CONTRIBUTING WRITERS

Interested in receiving Advancing Pediatrics? Visit www.ChildrensNational.org/PubSignUp or call 202-476-4500 to be added to our mailing list for the next issue!

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People IN THE NEWS ||| NEWS NOTES | UREA CYCLE DISORDERS CONSORTIUM FORESEES INNOVATION FROM MAJOR NIH FUNDING The Urea Cycle Disorders Consortium at Children’s National Health System was awarded $6.25 million from the National Institutes of Health. Over the next five years, the consortium will perform clinical research and develop new treatments for patients with urea cycle disorders, rare but devastating genetic conditions. Mark L. Batshaw, MD, Physician-inChief and Chief Academic Officer at Children’s National, is the principal investigator for the program; Mendel Tuchman, MD, Chief Research Officer and Scientific Director of the Children’s Research Institute, is the administrative director and co-principal investigator of the Urea Cycle Disorders Consortium; and Marshall Summar, MD, Chief of Genetics and Metabolism, is a co-principal investigator.

CHILDREN’S NATIONAL PHYSICIAN SAYS SLEEPING ON SOFAS POSES DANGERS FOR INFANTS Rachel Moon, MD, Associate Chief of the Diana L. and Stephen A. Goldberg Center for Community Pediatric Health at Children’s National, says that sofas or other soft surfaces are “extremely hazardous sleep surfaces for infants.”

With their soft surfaces, sofas create an environment that can lead to suffocation for infants, even during a short nap. Dr. Moon and other researchers, including Lauren R. Rechtman, MD, a pediatric resident at Children’s National, published the results of their study in the November 2014 issue of the journal Pediatrics.

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KURT NEWMAN, MD, President and CEO, was named to the Washington Business Journal’s Power 100 of 2014. The list recognizes the top 100 Washington, DC, area business leaders. Dr. Newman also was elected to the Board of Trustees of the Children’s Hospital Association. He began his term Jan. 1, 2015.

ROGER PACKER, MD, Senior Vice President, Center for Neuroscience and Behavioral Medicine at Children’s National, has been named to a three-year term with the new Research Advisory Network of the Pediatric Brain Tumor Foundation, reflecting his role as a leading researcher nationally into neurological disorders of children. As the largest and most significant foundation in the U.S. dedicated to advancing research for children with brain tumors, the Pediatric Brain Tumor Foundation is “undertaking a review of its strategic goals and evaluating its funding priorities, and created the Research Advisory Network as part of that,” Dr. Packer says. “I am honored to serve on that committee.”

RAHUL SHAH, MD, MBA, has been named Vice President, Chief Quality and Safety Officer at Children’s National. In this new role, Dr. Shah will lead the systemwide coordination of Children’s quality and safety program, focusing on patient safety, quality improvement, accreditation/ licensure, patient care policies, and outcomes. In collaboration with a multidisciplinary team including medical, nursing, and operations staff, he also will lead strategic initiatives to develop new, standardized care models advancing patient processes and systems of care.

JEROME A. PAULSON, MD, Medical Director for National and Global Affairs and Director of the Mid-Atlantic Center for Children’s Health and the Environment at Children’s National, has been named recipient of the National Healthy Schools Hero Award in “recognition of his long service in the field of children’s environmental health.” Claire Barnett, MBA, founder and Executive Director, Healthy Schools Network, Inc, said Dr. Paulson’s work has been “essential to the protecting of the health and safety of children across the country.”

IN THE NEWS

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Expanding the Parameters of

Neonatal Care

BY TIFFANY PARNELL

The Division of Neonatology at Children’s National Health System is redefining the standard of care for critically ill infants, with particular emphasis on neonatal neurological outcomes.

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THE DIVISION OF Neonatology at Children’s National, which includes Washington, DC’s only Level IV Neonatal Intensive Care Unit, serves a referral area that spans 47 regional hospitals.

With access to the breadth of pediatric subspecialists available at Children’s National, the Division of Neonatology is equipped to manage the medical and surgical needs of premature and/or critically ill neonates of all stages of gestation. The high level of care doesn’t end in the NICU—research, technology, and development of the region’s only neonatal neurology program set the Division of Neonatology apart from other institutions.

FURTHERING NEUROLOGICAL OUTCOMES Evaluation of the neonatal brain greatly differs from the practice of pediatric and adult neurology. Recognizing this, the Division of Neonatology and the Division of Neurology at Children’s National came together in 2004 to develop a dedicated Neonatal Neurology and Neurocritical Care program. The program offers access to neonatal neurologists who regularly monitor babies’ developmental progress and perform research in all areas of brain injury prevention and management.

“We are one of only a handful of programs nationally that has neonatal neurologists working in the NICU in both clinical and research capacities,” says Billie Short, MD, Chief of the Division of Neonatology. “Our goal is to provide the latest treatments while also developing experimental therapies that we BILLIE SHORT, MD can move from the bench to the bedside, allowing us to significantly improve neonatal/ pediatric neurological outcomes.”

RESEARCH OF THE PLACENTA’S ROLE IN BRAIN INJURY Premature birth and placental infection are major contributors to neonatal brain injuries. Fostering a greater understanding of the placental hormones and growth factors present in the normal fetal environment may help physicians develop targeted therapies that prevent brain injury.

“The placenta is naturally optimized to aid brain development,” says Anna Penn, MD, PhD, investigator in the Center for Neuroscience Research and Co-director of the Board of Visitors Cerebral Palsy Prevention Program. “At this time, we don’t know how the hormones ANNA PENN, MD, PHD and growth factors released by the placenta influence fetal brain development. My goal is to gain greater understanding of what’s happening at a basic

scientific level so we can create a cocktail of synthetic hormones that help normalize brain development following placental infection or premature birth.”

Dr. Penn’s prior placental research has included monitoring hormone levels in mouse models, examining human placentas to see what hormones are produced under certain circumstances, and analyzing the cerebral spinal fluid of premature infants to see which hormones are present. Her ongoing research in both babies and mice focuses on determining which fetal and newborn hormone levels correlate with normal development and improved neurological outcomes when there is risk of brain injury.

CRAFTING TECHNOLOGY The Division of Neonatology not only employs advanced technology in the NICU, but also is at the forefront of technological developments that are revolutionizing the tools used nationwide to monitor neonatal blood flow in the brain and intestines. This includes near infrared spectroscopy, which is utilized to help pinpoint infants who have the highest risk of developing necrotizing colitis.

Researchers at Children’s National also are working to optimize the size and design of equipment used during extracorporeal membrane oxygenation.

Visit www.ChildrensNational.org/AP-Neo for more information about the Division of Neonatology at Children’s National.

THE BIOMARKER-BRAIN INJURY LINK

Ongoing research at Children’s National is identifying biomarkers, such as heart rate variability, that may help determine the extent of brain injury before, during, and after whole-body hypothermia, the gold standard of treatment for perinatal hypoxic ischemic encephalopathy (HIE).

“Approximately half of infants with HIE experience poor outcomes following hypothermia,” says An Massaro, MD, Co-director of Research for the Division of Neonatology. “We hope to identify a method of routine monitoring to determine which patients are failing treatment. If we can pinpoint biomarkers that are early signs of impending injury, such as pattern changes in heart rate, we can intervene before the patient is compromised.”

Using heart rate variability, researchers also hope to better diagnose brain injury and give parents an accurate glimpse at their child’s future neurological outcome.

“No newborn walks or talks, so the challenge in predicting outcomes involves evaluating an area of the brain that currently is not in use,” says Taeun Chang, MD, Director of the Neonatal Neurology and Neurocritical Care Program. “However, all infants know how to breathe, sleep, and regulate their heart rate and temperature. Through our research, we’ve developed mathematical analyses to evaluate heart rate variability. Lack of heart rate variability indicates brain injury.”

NEONATOLOGY

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Telemedicine shrinks distance and

Expands

The Telemedicine Program at Children’s National Health System extends clinical services to hospitals that are just a few miles away, as well as institutions located on the other side of the world.

A NEONATOLOGIST AT a hospital in suburban Maryland receives on-screen instructions from a cardiologist about performing an echocardiogram of an infant’s heart. The neurological deficits of a young girl in the United Arab Emirates (UAE) are assessed long distance by a neurologist and a physical medicine specialist. In both cases, the physicians consulted via telemedicine technology.

Those scenarios are typical of the more than 15,000 patient consultations Children’s National clinicians have provided via videoconferencing since the Telemedicine Program’s inception nearly 20 years ago. Currently, telemedicine connects Children’s National to institutions in 21 states and 19 countries on five continents.

Telemedicine takes many forms, including synchronous, or live, videoconferencing, and asynchronous connections that allow partner facilities to securely transfer images to Children’s National clinicians for swift review. Homebased patient monitoring and medical training— clinicians have conducted more than 4,000 education sessions to date—also are a part of telemedicine at Children’s National.

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CLINICAL VERSATILITY WITH A GLOBAL REACH Clinicians using telemedicine at Children’s National represent a variety of specialties, including behavioral medicine, dermatology, emergency medicine, endocrinology, hematology/oncology, neonatology, pulmonology, and radiology; the most frequent users are cardiologists.

“We provide daily cardiology telemedicine services at hospitals in six states and territories, from Howard University in DC to a facility in Guam,” says Craig Sable, MD, Director of Telemedicine and Director of Echocardiography at Children’s National. “Our most common request is to use echocardiography to assess newborns at community hospitals for suspected congenital heart disease. The vast majority of babies are normal, and without telemedicine, many would unnecessarily be transferred to other facilities at extraordinary cost and with great stress to their families.

For the approximately 5 percent of patients who do have heart disease, telemedicine can save their lives.”

Dr. Sable and colleagues routinely offer cardiology telemedicine services across borders, including in Uganda, where Children’s National recently helped open

P R E PA R I N G TO PA RT N E R Establishing a telemedicine relationship with Children’s National Health System is a straightforward process, particularly when it comes to technical logistics.

“For the most part, telemedicine connections can easily be made through existing networks within partner institutions, with many options for those connections, including synchronous and asynchronous consultations,” says Mary Fuska, MHS, Telehealth Operations Manager at Children’s National. “After the entities agree on the services Children’s National will provide and how the services will be conducted, the institutions sign a contract and implementation begins.”

Before telemedicine can commence, however, Children’s National physicians must be credentialed at the partner facilities. Children’s National works with hospitals to expedite the process via credentialing-by-proxy.

Boundaries

BY THOMAS CROCKER

a telemedicine room at the country’s main tertiary hospital, and Morocco, where Children’s National cardiologists hold weekly conferences with their Moroccan colleagues about prospective surgical cases.

Neurologists—the second most frequent users of telemedicine at Children’s National—review patients’ electroencephalograms from several partner hospitals to identify causes of seizures or other neurologic problems. Roger Packer, MD, Senior Vice President of the Center for Neurosciences and Behavioral Medicine, Endowed Distinguished Professor and Director of the Gilbert Family Neurofibromatosis Institute, and Director of the Brain Tumor Institute at Children’s National, conducts monthly tumor boards for referring institutions. Neurologists also perform weekly telemedicine examinations of children with neurodevelopmental disabilities in Fujairah in the UAE. BREAKING DOWN BARRIERS Children’s National believes telemedicine has an important role to play in reducing healthcare costs and promoting patient-centric care.

“We want to make telemedicine a centerpiece of healthcare reform, so we’re involved in efforts to remove barriers to its use at the state and federal levels,” Dr. Sable says. “As our program helps make the case for more comprehensive national support for telemedicine, we hope it serves as a model that will move this method of delivering healthcare closer to realizing its full potential.”

To request information about becoming a telemedicine partner, email Dr. Sable at CSable@ChildrensNational.org.

“If a physician is credentialed at Children’s National, a referring hospital can authorize him or her to see patients at its facility based on credentialing status at our hospital,” Mary says. “Instead of waiting up to six months to begin telemedicine services, credentialing-byproxy helps us get distance medicine up and running faster.”

REMOTE METABOLIC DISORDERS CARE

One of the newest telemedicine participants at Children’s National is the Division of Genetics and Metabolism.

When the metabolic geneticist at University of Mississippi Medical Center retired in 2014, the institution didn’t have time to recruit a new faculty member. The medical center contacted Brian Kirmse, MD, pediatric geneticist at Children’s National, about assuming care of the former staff physician’s patients, all of whom have been diagnosed with inborn errors of metabolism.

“Using an iPad, I hold a telegenetics clinic in Jackson, Mississippi, every Tuesday from my office in DC,” Dr. Kirmse says. “I partner with a nurse practitioner and a metabolic dietitian in Mississippi to formulate treatment plans and manage positive newborn screens. The patients and families have responded well to our model, and I’m really enjoying taking care of patients a thousand miles away through telemedicine.”

TELEMEDICINE

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DRIVING the

PRESENT and FUTURE of

MEDICAL

GENETICS

BY THOMAS CROCKER

Genetics is assuming an increasingly important role in many aspects of medicine. As home to the largest pediatric clinical genetics program in the world, Children’s National Health System is at the forefront of this burgeoning field.

“MEDICINE IS HEADING toward more and more everyday use of genetics,” says Marshall Summar, MD, Chief of the Division of Genetics and Metabolism at Children’s National. “In the future, we’ll see genetics influencing medication dosing and the MARSHALL selection of therapeutic SUMMAR, MD regimens for patients, and risk counseling will play a crucial role in helping clinicians prescribe the most appropriate treatment for patients, based on both genetic information and family health history. Medicine also is trending toward individualized treatments that resemble the type of care geneticists render when addressing rare disorders.”

PIECING TOGETHER GENETIC PUZZLES The primary focus of the Division of Genetics and Metabolism is treating children and adults with rare diseases, of which there are approximately 7,300 types known to medicine. The 12-member team of medical geneticists frequently treats a variety of common genetic disorders, including Down syndrome, neurofibromatosis, craniofacial defects, and DiGeorge syndrome. Children’s National is nationally acknowledged as a leader in treating metabolic diseases and internationally

8 GENETICS

recognized for urea cycle disorder and lysosomal storage disease treatment.

The well-rounded nature of the clinical team also makes Children’s National a noted destination for treatment of some of the rarest genetic disorders, including N-acetylglutamate synthase deficiency, vitamin B12 methylation deficiency, and organic acidemia disorders.

“One of the division’s greatest strengths is our ability to handle undiagnosed patients,” Dr. Summar says. “I call us ‘highly specialized generalists.’ The list of rare conditions is long, but we have someone in the division who knows something about virtually every disorder.”

TREATING IN TANDEM Every geneticist at Children’s National works in concert with a genetic counselor to manage both the clinical and practical aspects of treatment—an approach rarely found at other genetic centers.

“The clinician’s job is diagnosis, therapeutic development, and coordinating care, and the genetic counselor’s role is helping patients and families understand their diagnoses and navigate treatment processes,” Dr. Summar says.

“Our physician/counselor teams are quite effective.

The division also includes two biochemical nutritionists who craft diets for individuals with biochemical and inborn errors of metabolism.”

LEADING THE SEARCH FOR NEW SOLUTIONS Treatment encompasses only part of the division’s mission—nearly every clinician is involved in research, many as National Institutes of Health investigators.

“Individuals with rare genetic conditions are some of the most frequent users of healthcare services of any disease group,” Dr. Summar says. “We are a leader in investigating how to manage patients with complex, multiple medical problems in ways that allow them to stay at home and not have to visit hospitals as often. We want to maintain patients’ overall health, not simply diagnose and treat them.”

A variety of signs warrant referral to a geneticist at Children’s National, including unusual newborn screening results, sudden changes in neurological or physical development, and problems involving more than one system of the body. To consult a geneticist about referral, call 202-476-6287 or email Genetics@ChildrensNational.org.

A DIGITAL SOLUTION

TO A CLINICIAN SHORTAGE An infant born at a community hospital in Maryland displays symptoms indicative of DiGeorge syndrome, but the attending neonatologist needs to consult a medical geneticist to confirm the diagnosis. The hospital, like most suburban and rural facilities around the country, doesn’t have such a specialist on staff. Fortunately, in this scenario, a Children’s National medical geneticist is just a few keystrokes away.

In fall 2014, a handful of hospitals in the greater Washington, DC, area began using Opinions in Medical Genetics, a mobile application Children’s National developed as part of a larger telegenetics initiative.

“We wanted to make it easier for pediatricians and neonatologists to consult with our Division of Genetics and Metabolism without a specialist needing to be onsite,” says Brian Kirmse, MD, pediatric geneticist at Children’s National and the app’s developer. “Our solution was a simple app that a

clinician can use with parental permission to transmit a patient’s clinical information, family history, and clinical images to Children’s National via a secure Internet connection so a medical geneticist can render an opinion.”

A Children’s National geneticist summarizes the case and recommends a management and genetic testing strategy, and then submits his or her proposal to the requesting physician. The consult likely marks the beginning of a dialogue between the clinicians.

“The geneticist can request more information from the community physician or set up a video consult,” Dr. Kirmse says. “The app doesn’t replace the geneticist—it’s the gateway to the geneticist.”

Opinions in Medical Genetics users can contact a Children’s National medical geneticist by emailing OMG@ChildrensNational.org or calling 202-476-4388.

GENETICS

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Blazing a Path Forward

for Pediatric Medical Device

Innovation

BY COLIN STAYTON

ON OCT. 24, more than 200 prominent figures in medical research and development, insurance, government, hospital administration, and law gathered at The Newseum in Washington, DC. Speakers from Children’s National, as well as the U.S. Food and Drug Administration, UnitedHealth Group, Janssen, Aetna, Johnson & Johnson, Medtronic, McKinsey & Company, IDEO, the University of Maryland, and the University of Michigan, among others, presented on the challenges currently inhibiting the development of pediatric surgical devices.

The Sheikh Zayed Institute for Pediatric Surgical Innovation at Children’s National Health System recently brought together leaders from across the nation for the second annual Pediatric Surgical Innovation Symposium.

“There is a critical, unmet need for these child-specific devices,” says Peter Kim, MD, CM, PhD, Vice President of the Sheikh Zayed Institute and Associate Surgeon-in-Chief at Children’s National.

“When large development companies manufacture implantable medical devices, they only make them in certain sizes. The motivation behind this year’s symposium was to discuss how we can incentivize these companies to increase their investment in pediatric-specific medical devices.”

“With enhanced pathways to market, improved information about the unmet medical need, greater understanding of a patient’s benefits and risks, advances in regulatory science, and funding that supports collaboration, we have begun to put in place the mechanisms that will drive innovation in pediatric devices for surgical applications,” says Margaret A. Hamburg, MD, Commissioner of the Food and Drug Administration. “Now we must ensure action and the continuing will to do so.”

The theme of the event, “Lessons From Drugs to Devices: A Pediatric Perspective,” recognized past regulatory successes that could set a precedent for positive change in pediatric device development. The Best Pharmaceuticals for Children Act provided significant incentives for drug manufacturers to pursue pediatric drug research. Similarly, the 2007 Pediatric Medical Device Safety and Improvement Act and its reauthorization in 2012 helped narrow the gap between the need for pediatric-specific medical devices and incentives for their research and development. Yet the number of approved medical devices for children remains scarce.

“Through this symposium, the Sheikh Zayed Institute is fostering concrete, achievable action to improve the health of children,” says Kurt Newman, MD, President and CEO of Children’s National. “Their metabolism and overall response to biologics, medical devices, and surgical procedures differ from adults, making it essential to find effective and efficient ways to develop regulated and wellresearched devices and therapies tailored to their needs.”

To learn more about the event, visit www.ChildrensNational.org/AP-SZI.

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WINNING IDEAS

The symposium featured a competition for the most innovative new medical device or idea. Two winners were selected from 56 submissions and eight finalists to receive $50,000 grand prizes.

++

Velano Vascular presented a method for safe, effective, needle-free blood draws for hospitalized children. The idea was borne out of company cofounder Eric Stone’s own painful memories of childhood hospitalization and frequent needle sticks.

++

REBIScan presented a handheld vision scanner to treat amblyopia. According to CEO and cofounder Justin Shaka, the $50,000 prize will enable REBIScan to transition the device from the regulatory phase into manufacturing.

The Sheikh Zayed Institute for Pediatric Surgical Innovation will follow both winners and their progress as the institute continues to advance the pediatric medical device market.

BY VALERIE LAUER

A New Standard for Bladder Exstrophy Care

A team of specialized urologists and orthopaedists at Children’s National Health System is establishing a new treatment methodology for children born with bladder exstrophy.

CHILDREN BORN WITH bladder exstrophy— where the bladder is exposed and protrudes through the abdomen—frequently encounter additional abnormalities, including pelvic bone deformity, limited bladder capacity, and malformed genitals.

Traditionally, these children were transported to Children’s National immediately after birth and surgery was performed within 36 hours.

“Infants’ bones are most malleable during this timeframe, and we saw good physical results using this approach,” says Hans Pohl, MD, pediatric urologic surgeon and bladder exstrophy specialist at Children’s National. “However, this method of treatment did not give families sufficient time to bond with the infants or prepare for the effects of having a child undergo a surgical procedure.”

This insight has guided Children’s National to evolve to a more family-centered approach to treatment. The hospital now performs delayed complete closure, meaning that families are sent home with explicit instructions regarding how to care for their infants’ special needs. The surgery is performed in the following months, which gives families time to prepare and bond.

“Once families learn how to apply special bandages to protect the site, they rarely need additional guidance,” Dr. Pohl says. “In case other needs develop, we provide ongoing

support in the phase between birth and corrective surgery.”

COOPERATIVE, COORDINATED CARE Dr. Pohl’s approach also allows more time to plan surgery.

To correct bladder exstrophy, Dr. Pohl works in tandem with orthopaedic surgeon Shannon Kelly, MD, a hip reconstruction specialist, and a HANS POHL, MD special team of pediatric anesthesiologists who keep young patients stable during the six-hour procedure.

“I perform an innominate osteotomy, cutting the pelvis and then hinging it closed to give bony coverage to Dr. Pohl’s soft tissue repair,” Dr. Kelly says. “After surgery, I help close and place children in casts they wear for six weeks. It’s amazing to see these children, who were extremely impaired with no recognizable genitalia, running around a year or so later like normal children.”

Following surgery, Dr. Pohl closely monitors patients for any changes or complications.

Due to meticulous attention to detail and a broad range of experience correcting bladder exstrophy, revisionary surgery has not been required to date in any cases despite the complex nature of the defect.

“The treatment of bladder exstrophy at Children’s National has undergone an evolution toward a more patient-centric approach.

Rather than tackling the problem as quickly as possible, we are helping ensure our patients are healthy in the immediate future and long term.”

— HANS POHL, MD, PEDIATRIC UROLOGIC SURGEON AT CHILDREN’S NATIONAL

For more information about advanced urologic procedures at Children’s National, visit www.ChildrensNational.org/APN-Urology.

BLADDER EXSTROPHY

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MULTIDISCIPLINARY CARE

for Disorders of the Neuromuscular System

BY MICHAEL FERGUSON

A multilayered approach to treating neuromuscular disorders at Children’s National Health System ensures personalized care and accessibility to a robust offering of clinical trials.

THE NEUROMUSCULAR MEDICINE Program leverages the expertise of multidisciplinary teams, cutting-edge research, and innovative technologies to care for a spectrum of neuromuscular conditions affecting children from infancy to age 21. To expedite evaluation, diagnosis, and treatment, specialists operate three clinics:

Warning signs in children relate to deviation in normal developmental trajectory. Poor muscle tone, delay reaching motor milestones, difficulty walking, and poor exercise endurance are early signs of neuromuscular conditions.

++ The Neuromuscle Clinic is the gateway to the program.

“Exciting new developments in neuromuscular sciences enable us to better understand and provide treatment options,” Dr. Thangarajh says. “Our goal to provide holistic care for children with neuromuscle diseases is served by closely working in partnership with community pediatricians.”

Specialists review medical histories and perform detailed clinical exams. Additional blood work, muscle ultrasound or MRI (magnetic resonance imaging), muscle biopsy, nerve conduction studies, electromyograms, and genetic testing may follow in the pursuit of an underlying diagnosis. ++ The Muscular Dystrophy Association (MDA) Clinic is a one-stop clinic featuring multispecialty support for muscular dystrophies. In a single visit, children diagnosed with muscular dystrophies are attended to by experts from pulmonary medicine, physical medicine and rehabilitation, cardiology, and physical and speech therapy. ++ The Diagnostic Clinic specializes in diagnosis and treatment of rare and unique neuromuscular disorders.

This clinic benefits from close collaboration with experts from National Institutes of Health.

EARLY WARNINGS Neuromuscular conditions are rare. Many are misdiagnosed or go unrecognized, according to Mathula Thangarajh, MD, PhD, Director of the Neuromuscular Medicine Program at Children’s National.

Genetic and metabolic conditions are more common in infancy and early childhood; inherited neuropathies typically manifest symptoms in late childhood; and autoimmune conditions and traumarelated injuries are more common in teenage years.

MATHULA THANGARAJH, MD, PHD

BREAKING

A new oral medication shows promising success for treating Duchenne muscular dystrophy (DMD).

VBP15 originated out of persisting questions behind the impact of glucocorticoids, according to Eric Hoffman, PhD, Director of the Center for Genetic Medicine Research at Children’s National Health System.

NEUROMUSCULAR MEDICINE BARRIERS THROUGH RESEARCH

12 NEUROMUSCULAR DISEASE

Visit www.ChildrensNational.org/AP-Neuromuscle for more information about the Neuromuscular Medicine Program.

VBP15 is innovative in addressing multiple problems in DMD muscle simultaneously: It stabilizes plasma membranes, avoids transactivation, and offers improved transrepression.

VBP15 inhibits a molecule (NFkB) that plays an early role in inflammation and tissue damage in DMD muscle. VBP15 may prevent or delay the symptom onset when

administered early, as well as help older DMD patients.

“These findings are very promising for advancing the treatment of DMD,” Dr. Hoffman says. “While the initial indication is treatment of DMD, VBP15 appears to hold additional promise for treating hundreds of other conditions.”

Growing A FOUNDATION of

COMPREHENSIVE

Cardiac Care

BY COLIN STAYTON

The Heart Failure and Cardiac Transplant Program at Children’s National Heart Institute is making strides in caring for critical cardiac needs.

“SINCE ARRIVING A year ago, I have seen our program steadily build on the institute’s strong foundation of caring for the sickest cardiac patients,” says Janet Scheel, MD, Medical Director of the Heart Failure and Cardiac Transplant Program.

“In the last year, we’ve performed five transplants and have four patients actively awaiting transplantation, as well as a group of patients on mechanical circulatory support.”

Dr. Scheel notes several exciting patient developments in the past year:

++ A 9-month-old patient with

cardiomyopathy and severe undernourishment was successfully transplanted. ++ Two patients successfully received the Berlin Heart EXCOR® Pediatric Ventricular Assist Device, one of whom—at 7 weeks old—became the program’s youngest recipient of the device. ++ A teenage patient on a continuous flow device currently is being evaluated for device removal.

NEW FRONTIERS This last case highlights what Dr. Scheel calls a “brave new frontier” for pediatric heart failure care.

“The half-life of a transplanted heart is 15 years, which is not ideal for young patients,” Dr. Scheel says. “As mechanical circulatory support devices improve, patients may be able to live longer with a device than with a transplant. Their heart function improves significantly

in some cases, opening the potential for these devices to essentially become bridges to recovery.”

The transplant team also has developed written protocols to perform ABOincompatible heart transplantation with exchange transfusion, which could increase the donor population for patients in infancy. While ABOincompatible heart transplantation is contraindicated for adults, clinical studies suggest infants with immature immune systems—prior to the onset of isohemagglutinin production—may respond well to this approach.

Research continues to grow, as well.

Pranava Sinha, MD, cardiac surgeon, is conducting laboratory research to improve management of pediatric patients with single-ventricle physiology, who represent an increasing percentage of the pediatric transplant population.

“The largest and longest-running pediatric heart transplant centers only perform around 20 transplants per year,” Dr. Scheel says. “To actively manage the number of transplant and heart failure patients we have, and to generate the level of research we do, is a significant accomplishment in one year.”

“Prior to receiving a heart transplant, patients are managed in our state-of-the-art Cardiac Intensive Care Unit.

These patients often have extremely complex medical needs. Among the leading hospitals that participate in the Society of Thoracic Surgeons National Database, we’re consistently ranked in the top three for patient complexity mix.”

— RICHARD JONAS, MD, CO-DIRECTOR OF THE CHILDREN’S NATIONAL HEART INSTITUTE AND DIVISION CHIEF OF CARDIAC SURGERY AT CHILDREN’S NATIONAL

To refer a patient to the Heart Failure and Cardiac Transplant Program or to speak with Dr. Scheel, call 202-476-2020.

Learn more about the Heart Failure and Cardiac Transplant Program at www.ChildrensNational.org/APN-HeartFailure.

CARDIOLOGY

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Seeking to Change the Odds for PEDIATRIC DIPG PATIENTS

BY KATY MENA-BERKLEY

A researcher at Children’s National Health System is studying diffuse intrinsic pontine gliomas (DIPG) in hopes of identifying targetable pathways and effective therapeutic treatments.

AN INOPERABLE AND deadly brain tumor, DIPG develops in the pons region of the brainstem. Approximately 150 new cases of DIPG are diagnosed in the United States each year, primarily affecting children younger than age 10, and only 10 percent of diagnosed children currently survive two years following diagnosis.

Javad Nazarian, PhD, researcher at Children’s National, has been studying DIPG for the past five years, working to identify the genes involved in tumor formation. His research study, “Comparative Multidimensional Analyses of Pediatric Diffuse Intrinsic Pontine Glioma Reveals Distinct Molecular Subtypes,” was published in 2014 in Acta Neuropathologica.

A WAY FORWARD “The field of biology and molecular medicine has been fast expanding during the past decade,” Dr. Nazarian says. “Our goal is to incorporate molecular medicine in

diagnosing and assessing prognosis of DIPG. Despite the importance of histological readings and assessments, we believe we need to grade a tumor based on its molecular composition. This will eventually allow for a case-based, personalized treatment of cancer.”

In August 2014, Dr. Narazian’s research was recognized with a $100,000 grant from the Smashing Walnuts Foundation.

The funding will allow researchers to continue studying the disease and its effects.

“Children with DIPG have almost no chance of survival,” Dr. Nazarian says. “We need to continue to research, identify targetable pathways, and test therapeutics until we can truly treat children diagnosed with this cancer.”

To access the complete study, visit www.ChildrensNational.org/AP-Nazarian.

THE TUMOR Microenvironment

BY KATY MENA-BERKLEY

A discovery by Children’s National Health System researchers may significantly affect the future of oncologic treatment.

FOR MORE THAN 30 years, Stephan Ladisch, MD, cancer biologist and oncologist with the Center for Cancer and Immunology Research and Center for Cancer and Blood Disorders at Children’s National, has studied tumor-host interactions, paying particular attention to gangliosides, lipid molecules produced by tumors.

“We have discovered that gangliosides are important defense mechanisms that tumor cells use to protect themselves,” Dr. Ladisch says. “Tumors that release these molecules grow more rapidly than those that don’t. We developed a genetic model that prevented cells from synthesizing them. In our research, when we’ve interfered with the ability of these cells to make gangliosides, we’ve discovered that tumor formation was markedly inhibited.”

Residing in the plasma membranes of tumor cells, gangliosides are released by tumors and then coat the surrounding area, blocking immune responses,

14 INNOVATIONS

boosting growth of blood vessels that feed the tumor, and encouraging tumor growth. Similarly, myeloid suppressor cells also encourage tumor growth and block immune responses.

In his latest research, Dr. Ladisch discovered that gangliosides actually promote the development of the myeloid suppressor cells, which in turn suppress the immune response even further.

“The next step is to inhibit the synthesis of these molecules in the human body,” Dr. Ladisch says. “If we find an effective way to do this, it will likely become a key element of cancer treatment. Most cancer treatments are toxic; this addition to treatment could inhibit tumor growth without added toxicity.”

Visit www.ChildrensNational.org/AP-Ladisch to learn more about Dr. Ladisch’s research or email him at SLadisch@ChildrensNational.org.

Standardized Care,

Improved Outcomes

BY TIFFANY PARNELL

Through the establishment of national benchmarks in the areas of asthma, pneumonia, and bronchiolitis management, one Children’s National Health System physician is hoping to resolve the tension between evidence-based guidelines and the complexities of clinical practice.

IMPROVING THE QUALITY of medical care while controlling associated costs is especially important in the era of healthcare reform. While evidence-based guidelines exist regarding the best ways to manage asthma, pneumonia, and bronchiolitis—the three leading causes of pediatric hospitalization—variations in care occur on a national level.

In a study recently published in KAVITA Pediatrics, Kavita Parikh, MD, MSHS, PARIKH, MD, MSHS hospitalist at Children’s National and the study’s lead author, examined these variations and developed several achievable benchmarks that seek to improve upon and standardize care for these conditions.

STUDY METHODOLOGY Dr. Parikh utilized the achievable benchmarks of care model to analyze national trends. Using this methodology rather than simply looking at median rates of guideline utilization at hospitals across the country provided a glimpse at the types of care delivered at high-performing hospitals, which allowed for the development of benchmarks for achievable clinical excellence.

“The potential for these benchmarks to propel value-based care is tremendous because they actually reflect clinical practice,” Dr. Parikh says. “There are times when care appropriately deviates from established guidelines based on the integration of a patient’s medical history, examination, test results, and clinical experience.

The question remains, however, ‘How often should this happen, and what is an achievable goal?’ Our hope is that these benchmarks provide goals reflective of clinical practice.”

For more information, email Dr. Parikh at KParikh@ChildrensNational.org.

To view the study results, visit www.ChildrensNational.org/AP-Parikh.

NATIONAL BENCHMARKS AT A GLANCE Benchmarks for achievable clinical excellence in the areas of asthma, pneumonia, and bronchiolitis treatment cover:

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Antibiotic use—The median rate of antibiotic utilization for asthma management is 15 percent at hospitals across the nation. The achievable benchmark of care (ABC) is 6.6 percent.

“Most asthma exacerbations are triggered by viral infections,” says Stephen Teach, MD, Chair of the Department of Pediatrics at George Washington University School of Medicine. “Recognition of best practices regarding antibiotic use improves patient care, better controls costs, and helps prevent the emergence of antibiotic-resistant bacterial strains.”

The ABC for antibiotic use in patients with bronchiolitis is 18.5 percent. In the realm of pneumonia management, physicians are encouraged to prescribe narrowspectrum antibiotics.

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Chest X-ray utilization—The ABC for chest X-ray use is 24.5 percent for asthma patients and 32.4 percent for bronchiolitis patients.

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Steroid management—The ABC for steroid use in bronchiolitis treatment is 6.4 percent.

BEST PRACTICES

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CHILDREN’S NATIONAL HEALTH NETWORK’S

Annual Future of Pediatrics WHEN: Tuesday, June 9, and Wednesday, June 10 WHERE: Bethesda North Marriott and Conference Center

++ Registration is FREE for members of CNHN and local

ADVANCING PEDIATRICS IS AVAILABLE ON YOUR iPAD.

AAP chapters. CME credit is available.

For more information or to register, visit www.ChildrensNational.org/CNHN.

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