Dr. Natasha Shur shares “Genetics and Telemedicine: Extending Our Reach” at the Future of Pediatrics CME

Virtual visits: A new house call for rare disease treatment

Dr. Natasha Shur shares “Genetics and Telemedicine: Extending Our Reach” at the Future of Pediatrics CME

Natasha Shur, M.D., an attending clinical geneticist at Children’s National Health System, shares “Genetics and Telemedicine: Extending Our Reach” at the Future of Pediatrics CME symposium in Bethesda, Maryland, on June 20.

“For the first time it wasn’t autism, autism, autism,” says Shannon Chin after learning the reason her newborn daughter, Sariyah, who turns 3 in August, couldn’t feed like normal infants was due to a tiny deletion of chromosome 22. This atypical deletion, a variation of a genetic condition known as 22q11.2 deletion syndrome, left Sariyah unable to suck and obtain nourishment as an infant. She was born premature and relied on assisted feeding tubes, inserted through her nose, to help her grow.

At 22-weeks-old, Sariyah received the diagnosis, which affects 1 in 4,000 children born each year. Sariyah’s genetic test results encouraged Chin to follow up with a nagging question: What if her two sons, Rueben and Caleb, both of whom were diagnosed with autism spectrum disorder (ASD), had something else?

This past year Chin met with Debra Regier, M.D., a medical geneticist at Children’s National Health System, for concerns about Rueben. Dr. Regier recommended a microarray analysis, which confirmed the symptoms Chin recognized in her son. Rueben, 17, has atypical 22q11.2 deletion syndrome. Caleb, 5, took the test and has developmental delay and ASD, which is more likely to occur in children with 22q11.2 deletion syndrome. He tested negative for the same deletion as his siblings. Additional tests are underway.

As Chin juggles complex care for her children, she realizes the partial deletion of chromosome 22 presents differently in every child. Sariyah and Rueben share short stature; they fit into tiny clothes. That’s where the phenotypical clues stop. They don’t have a cleft palate or dysmorphic facial features, distinctive of typical cases of 22q11.2 deletion syndrome. Sariyah has physical symptoms. Her intestines merged together, which gastrointestinal surgery fixed. Rueben experiences behavioral and neurological symptoms, including picky eating, aggression and uncontrolled body movements, which led the Chin family to Dr. Regier. Sariyah, Rueben and Caleb all have neurodevelopmental delays that impact their speech and development.

Coordinating multiple visits with geneticists, specialists, surgeons, genetic counselors and pediatricians, while navigating insurance, is a lot for any parent, but especially for those, like Chin, who have special considerations. Her children are non-verbal, so she pays close attention to their physical cues. Simplifying this process is one reason why Natasha Shur, M.D., a medical geneticist at Children’s National, introduced virtual visits to some of her patients earlier this year. She used telemedicine with Rueben before the pilot program started because he had challenges with in-person visits. She thought: How can we make medical care easier for patients and families?

In January, Dr. Shur launched an informal virtual visits pilot program for 50 to 60 patients, including Sariyah and Caleb, with the support of a grant from the Health Resources and Services Administration (HRSA), the division of telemedicine at Children’s National and the Rare Disease Institute (RDI), the medical home to thousands of pediatric patients living with rare or genetic conditions. This program lets patients with concern for or already diagnosed genetic conditions in Maryland, the District of Columbia, and Virginia, where Dr. Shur is licensed to practice medicine, test out virtual visits. Patients can download the HIPAA-compliant app or click through a secure link on a digital device to connect with Dr. Shur or a pediatric subspecialist.

Dr. Shur shares the preliminary findings of a new virtual visits pilot program,

Dr. Shur shares the preliminary findings of a new virtual visits pilot program, which 50-60 local patients have tested in conjunction with in-person visits as a flexible way to manage medical care for genetic conditions.

On June 20, Dr. Shur shared a presentation about the program, “Genetics and Telemedicine: Extending Our Reach,” with pediatricians attending the Children’s National Future of Pediatrics continuing medical education (CME) symposium in Bethesda, Maryland.

Instead of a formal pilot program launch and end date with data, Dr. Shur explains she conducts quality improvement assessments with each patient. She asks what they like about virtual visits. Do they feel comfortable with the software and technology? What types of visits do they prefer to do at home? What works best at the hospital? Do they want to keep using this program?

For Chin and most participants, the answer is yes. These families appreciate saving time, mileage, and being in close access to pediatric subspecialists from the comfort of home.

Parents can conference call from separate locations and share screens with the doctors, which works well if one parent is at work and another is at home – or if they live apart. Children can maintain their normal routine, such as finishing breakfast, homework, playing or staying in bed if they don’t feel well, though it is important to see the child in the virtual visit.

Families can obtain virtual assessments about urgent conditions without taking time off from work or school. Currently, only 10 to 30% of virtual visit patients with concerns about genetic conditions need an in-person, follow-up appointment. Fortunately, many conditions are less urgent than thought at the time of referral.

Dr. Shur and specialists also benefit from observing children in their natural environment.

At the symposium, Dr. Shur translates this into clinical terms: reduced no-show visits, the ability to schedule shorter, more flexible visits, the ability to quickly and accurately diagnose conditions and provide care, and the ability to keep children with compromised immune function out of public areas, including waiting rooms. She discussed building rapport with patients, almost all of whom like these flexible care models.

“The idea is that we’re trying to understand what is best done using virtual technology and what is better for those in-person connections. More detailed physical exams take place in person. There are some cases where eye-to-eye contact and sitting in the exam room together is important,” says Dr. Shur. “Virtual visits should never replace in-person care. It’s just a forward way of thinking about: How do we use our time best?”

Case study 1: Saving families time and miles

Dr. Shur notes that for some patients, distance is a deciding factor for scheduling care. One mother’s five-hour round-trip commute to the children’s hospital, without traffic, is now five minutes. As an air-traffic controller, her schedule changes. She values the flexibility of the new program. To connect with Dr. Shur, she logs into the app on her computer or smart phone. She then brings her 2-year-old son into the video. He has cardiofaciocutaneous syndrome (CFC), a condition that affects 200 to 300 people in the world. As a result of a MAP2K1 gene variant, one of four genes – BRAF, MAP2K1, MAP2K2 and KRAS – associated with CFC, he experiences feeding problems, reflux, constipation and developmental delays.

By scheduling more frequent, but shorter check-ins, Dr. Shur assesses how he responds to treatment and makes recommendations to the mother in real time, such as trying prune juice for digestive health. They talk about rearranging feeding measurements and intervals, including his 2 a.m. dose of a peptide formula, which the mom blends at home to support her son’s growth. This modification equates to more sleep for everyone.

If follow-up tests, such as an X-ray or a blood test are needed, Dr. Shur will coordinate these exams with the family at the hospital or at a nearby medical center. Depending on the condition, Dr. Shur may refer the family to an ophthalmologist, cardiologist, neurologist or learning and development specialist.

As a parent, Dr. Shur appreciates the direct approach virtual visits deliver.

“As a mom, if I’m taking my child to the doctor for two hours, I want to know why I’m there,” Dr. Shur says. “What are all the options? We understand that parents of patients want to make sure their time is well-utilized.”

Case study 2: Observing children at home

Chin, who was also featured in Dr. Shur’s CME presentation, appreciates virtual visits for their convenience and efficiency, but her favorite part about the program is letting doctors observe her children at home.

“Children act differently outside the home,” Chin says.

For example, instead of describing Rueben’s rapid, rhythmic arm movements, Chin showed neurologists at a scheduled virtual home visit. For Marc DiFazio, M.D., a pediatric neurologist, it was evident that Reuben had a movement disorder commonly seen in children with ASD, which is responsive to medication. In five minutes, her son had a diagnosis. The involuntarily movement wasn’t a behavioral issue, as previously thought, but a movement disorder.

“The regular in-person visit has a beautiful role and it’s very important, but virtual visits bring a different focus,” says Dr. Shur. “We get to see what the child’s life is like, what the home setting is like and what their schedule is like. How can we make their day-to-day life easier?”

Phenylketonuria (PKU), a rare condition that prevents the body from breaking down phenylalanine (Phe), an amino acid in protein, is another condition that pairs well with virtual visits. PKU affects 1 in 10,000 to 15,000 newborns in the U.S. People with PKU often require medication, food-based formulas and a protein-restricted diet to help their body process or regulate Phe.

If a patient with PKU connects through a virtual visit, they (or their parents) can open the refrigerator, talk about low-protein foods, discuss potential barriers to following a low-Phe diet, show the team new supplements or over-the-counter medications they are taking, discuss reactions to new therapies and, for adults, discuss an injectable drug recently approved by the FDA that has side effects but may ultimately allow them to follow a regular diet. These observations may not warrant a traditional trip to the doctor but are important for geneticists and patients to discuss. The goal of these visits is to identify and work around potential health barriers, while preventing adverse health outcomes.

To support this model, a 60-minute in-person visit scheduled every six months to a year can be broken into 15-minute video appointments at more frequent intervals. The result, based on the same amount of clinical time, is a targeted and detailed assessment to help the patient adapt to personalized therapies and to a low-Phe meal plan.

During the video call, Dr. Shur and the team may prescribe a different medication, order a diagnostic procedure or schedule a follow-up appointment, if necessary. Depending on the situation, the patient will still likely come in for in-person annual visits.

Program assessment: Evaluating visits for each patient

Despite the popularity of virtual visits, Dr. Shur mentions this program isn’t a good fit for everyone – depending on a patient’s preferences. There are also limitations to consider. If a parent is hesitant to try this platform or if the comprehensive physical examination is the first key step, they should schedule in-person visits. The goal is to give parents who are requesting or curious about virtual visits a chance to use the new platform. Having a secure area, preferably a private space at home, is important. A Wi-Fi connection and a digital device are required, which may create barriers for some patients.

Dr. Shur finds the program can also alleviate hurdles – such as transportation challenges. One patient lives two hours away and couldn’t make it in for routine medical visits due to car problems. Now she video conferences in and makes every appointment. For the first time in her life, she can manage medical care for herself and for her children.

Most insurance companies Dr. Shur works with cover virtual visits. The key is to have the virtual connection, or video, so Dr. Shur can still physically see the patient. Otherwise, the visit doesn’t count. A grant from CareFirst covers the costs of visits for patients who are using Medicaid or who don’t have medical insurance.

Parallel trends are happening across the country and for other conditions. The Federal Communications Commission (FCC) is reviewing a three-year pilot to expand the use of connected care services, like virtual visits, for low-income Americans living in rural areas. The Rural Health Care Program, funded by the FCC, supports hospitals that implement telehealth programs.

The American Academy of Pediatrics (AAP) released a statement in 2015 about telemedicine technologies, noting that if these technologies are applied in a synergistic model under one health care system or are guided by a family doctor, they can transform pediatric health care.

The key is to avoid a fragmented virtual health system.

Overall, the AAP applauds virtual connections that support collaborations among pediatric physicians, subspecialists and surgeons, reduce travel burdens for families, alleviate physician shortages, improve the efficiency of health care and enhance the quality of care and quality of life for children with special health care needs.

Planning for the future

A poster at the Future of Pediatrics conference

The American Academy of Pediatrics supports telemedicine technologies that strengthen connections between pediatric physicians, alleviate physician shortages, reduce travel burdens for families and enhance the quality of care and quality of life for children with special health care needs.

When asked about the future of virtual visits in genetics, Dr. Shur quickly responds. “The feedback has been phenomenal,” she says. “Virtual visits will never replace in-person visits. They will be used in conjunction with in-person visits to maximize care.”

Dr. Regier and Jamie Frasier, M.D., Ph.D., medical geneticists at Children’s National, are also introducing virtual visits to their patients, and many other providers plan to do so as the program expands. In some cases, Sarah Viall, PPCNP, a nurse practitioner and newborn screening specialist, works with Dr. Shur and the geneticists to explain newborn screening results to parents through virtual connections. Parents may find it’s easier to dial in during a lunch break or while they are together at home.

To improve education for patients and families, the education and technology committees at the RDI – led by geneticists and genetic counselors in partnership with the Clinical and Translational Science Institute at Children’s National – launched a new smartphone app called BearGenes. Families can watch 15 videos about genetics on the pin-protected app or view them online. The interactive guide serves as a gene glossary for terms patients may hear in a clinical setting. Topics range from genetics 101, describing how DNA is encrypted in the body through four letters – A, T, C, and G – to different types of genetic tests, such as whole exome sequencing, to look for differences in the spelling of genes, which the genetic counselors explain are genetic mutations.

“As we unite patients with virtual health platforms and new forms of technology, we want to see what works and what doesn’t. We want their feedback,” Dr. Shur reemphasizes. “Virtual visits are a dynamic process. These visits only work through patient partnership and feedback.”

While Chin navigates atypical 22q11.2 deletion syndrome and ASD, the virtual waiting room, virtual visits platform, ease of access and ability to show doctors her children help.

Sharing screens during the visit enables Chin to examine and have a better understanding of her children’s abdomen and kidney sonograms, cardiology reports and hearing exams. It forces everyone in the visit to focus on one topic or image at a time, strengthening the connection.

Chin still has questions, but she’s getting close to having more answers. She’s eager to see Caleb’s genetic test results and to work with Hillary Porter, M.S., CGC, the family’s genetic counselor, to interpret the data.

Attendees at the Future of Pediatrics conference

Nearly 400 pediatricians attend the Children’s National two-day Future of Pediatrics CME symposium to learn about the future of pediatrics and about new ways to collaborate as a diagnostic and treatment team.

As research about 22q11.2 deletion syndrome advances and delineations among its symptoms become common, geneticists, specialists and pediatricians continue to unify efforts to work as one diagnostic and treatment team. Virtual visits enable faster consultations and can shorten diagnostic odysseys, some of which may take up to five years for children with rare disorders.

“We’re all learning together,” Dr. Shur says about the new pilot program, which applies to genomics at large.

For Chin, by better understanding how a tiny fragment of a missing chromosome may influence her children’s growth and development, she is already making long-term plans and coordinating multidisciplinary medical treatment. She hopes that by sharing her story and knowledge about 22q11.2 deletion syndrome, she can help other parents navigate similar situations. Her biggest advice to parents is to follow through on lingering questions by bringing them up with your medical team.

Chin is optimistic and happy she did. She’s grateful for the virtual visits program, which simplifies complex care for her family. And she’s still waiting, but in two months she hopes to have final answers about her middle child’s DNA, unraveling another medical mystery.

 

illustration of brain showing cerebellum

Focusing on the “little brain” to rescue cognition

illustration of brain showing cerebellum

Research faculty at Children’s National in Washington, D.C., with colleagues recently published a review article in Nature Reviews Neuroscience that covers the latest research about how abnormal development of the cerebellum leads to a variety of neurodevelopmental disorders.

Cerebellum translates as “little brain” in Latin. This piece of anatomy – that appears almost separate from the rest of the brain, tucked under the two cerebral hemispheres – long has been known to play a pivotal role in voluntary motor functions, such as walking or reaching for objects, as well as involuntary ones, such as maintaining posture.

But more recently, says Aaron Sathyanesan, Ph.D., a postdoctoral research fellow at the Children’s Research Institute, the research arm of Children’s National  in Washington, D.C., researchers have discovered that the cerebellum is also critically important for a variety of non-motor functions, including cognition and emotion.

Sathyanesan, who studies this brain region in the laboratory of Vittorio Gallo, Ph.D., Chief Research Officer at Children’s National and scientific director of the Children’s Research Institute, recently published a review article with colleagues in Nature Reviews Neuroscience covering the latest research about how altered development of the cerebellum contributes to a variety of neurodevelopmental disorders.

These disorders, he explains, are marked by problems in the nervous system that arise while it’s maturing, leading to effects on emotion, learning ability, self-control, or memory, or any combination of these. They include diagnoses as diverse as intellectual disability, autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder and Down syndrome.

“One reason why the cerebellum might be critically involved in each of these disorders,” Sathyanesan says, “is because its developmental trajectory takes so long.”

Unlike other brain structures, which have relatively short windows of development spanning weeks or months, the principal cells of the cerebellum – known as Purkinje cells – start to differentiate from stem cell precursors at the beginning of the seventh gestational week, with new cells continuing to appear until babies are nearly one year old.  In contrast, cells in the neocortex, a part of the brain involved in higher-order brain functions such as cognition, sensory perception and language is mostly finished forming while fetuses are still gestating in the womb.

This long window for maturation allows the cerebellum to make connections with other regions throughout the brain, such as extensive connections with the cerebral cortex, the outer layer of the cerebrum that plays a key role in perception, attention, awareness, thought, memory, language and consciousness. It also allows ample time for things to go wrong.

“Together,” Sathyanesan says, “these two characteristics are at the root of the cerebellum’s involvement in a host of neurodevelopmental disorders.”

For example, the review article notes, researchers have discovered both structural and functional abnormalities in the cerebellums of patients with ASD. Functional magnetic resonance imaging (MRI), an imaging technique that measures activity in different parts of the brain, suggests that significant differences exist between connectivity between the cerebellum and cortex in people with ASD compared with neurotypical individuals. Differences in cerebellar connectivity are also evident in resting-state functional connectivity MRI, an imaging technique that measures brain activity in subjects when they are not performing a specific task. Some of these differences appear to involve patterns of overconnectivity to different brain regions, explains Sathyanesan; other differences suggest that the cerebellums of patients with ASD don’t have enough connections to other brain regions.

These findings could clarify research from Children’s National and elsewhere that has shown that babies born prematurely often sustain cerebellar injuries due to multiple hits, including a lack of oxygen supplied by infants’ immature lungs, he adds. Besides having a sibling with ASD, premature birth is the most prevalent risk factor for an ASD diagnosis.

The review also notes that researchers have discovered structural changes in the cerebellums of patients with Down syndrome, who tend to have smaller cerebellar volumes than neurotypical individuals. Experimental models of this trisomy recapitulate this difference, along with abnormal connectivity to the cerebral cortex and other brain regions.

Although the cerebellum is a pivotal contributor toward these conditions, Sathyanesan says, learning more about this brain region helps make it an important target for treating these neurodevelopmental disorders. For example, he says, researchers are investigating whether problems with the cerebellum and abnormal connectivity could be lessened through a non-invasive form of brain stimulation called transcranial direct current stimulation or an invasive one known as deep brain stimulation. Similarly, a variety of existing pharmaceuticals or new ones in development could modify the cerebellum’s biochemistry and, consequently, its function.

“If we can rescue the cerebellum’s normal activity in these disorders, we may be able to alleviate the problems with cognition that pervade them all,” he says.

In addition to Sathyanesan and Senior Author Gallo, Children’s National study co-authors include Joseph Scafidi, D.O., neonatal neurologist; Joy Zhou and Roy V. Sillitoe, Baylor College of Medicine; and Detlef H. Heck, of University of Tennessee Health Science Center.

Financial support for research described in this post was provided by the National Institute of Neurological Disorders and Stroke under grant numbers 5R01NS099461, R01NS089664, R01NS100874, R01NS105138 and R37NS109478; the Hamill Foundation; the Baylor College of Medicine Intellectual and Developmental Disabilities Research Center under grant number U54HD083092; the University of Tennessee Health Science Center (UTHSC) Neuroscience Institute; the UTHSC Cornet Award; the National Institute of Mental Health under grant number R01MH112143; and the District of Columbia Intellectual and Developmental Disabilities Research Center under grant number U54 HD090257.

INSAR 2019 logo

Autism’s heterogeneity on display at INSAR 2019

INSAR 2019 logo

At the INSAR Annual Meeting, presentations from around the world share a common goal: finding better ways to support and care for people with autism.

There are countless aspects of autism spectrum disorder (ASD) to study, as evidenced by the 1,800-plus abstracts accepted at the 2019 International Society for Autism Research’s (INSAR) annual meeting. Presentations from investigators around the world ranged from pre-clinical studies of the genetic and biological underpinnings to community-based studies of diagnosis, assessment and treatment.

Along that broad spectrum of autism research, the work at Children’s National emphasizes better understanding of the clinical implications and community experiences of autism, with a particular focus on:

  • How well diagnostic and assessment tools capture the many differences between subpopulations of children with autism, whether based on sex/gender identity, cultural background or age
  • Understanding what children and adolescents with autism, and their parents, really need to help them thrive, and how to target supports to their unique needs
  • Finding the best ways to deliver vital information to autistic youth and their families in clear and accessible ways.

Researchers from Children’s Center for Autism Spectrum Disorders (CASD) presented nearly 20 scientific panels, oral presentations and posters at INSAR highlighting their most recent findings in these areas.

In addition to their own research, the CASD team attended sessions from INSAR’s global community of researchers, clinicians, and others with vested interest in the study of ASD. Lauren Kenworthy, Ph.D., CASD’s director, shared some of her key takeaways from the meeting with the ASD-focused publication Spectrum.

“At many levels of analyses, we are learning that a diagnostic label may not always be the best construct for identifying, treating or probing the biology underlying a person’s problems,” she said. “The keynote by Jason Lerch, professor at Oxford University, for example, was an elegant synthesis of imaging and genetic findings that made a strong case for the importance of exploring subtypes within autism and across developmental and psychiatric problems.”

“We also received another powerful reminder of our field’s complex heterogeneity,” Dr. Kenworthy noted. “Katherine Gotham, assistant professor at Vanderbilt University, was able to divide groups of autistic individuals in a study according to different criteria than the study’s initial design and effectively erase what appeared to be clear, statistically significant differences between typically developing and autistic participants. Her presentation demonstrated once more the importance of looking deeply at our data from many angles before drawing conclusions based on study outcomes.”

These studies, both at Children’s and elsewhere, all share one common theme: the importance of asking these questions and exploring the answers, with the goal of finding better ways to support and care for the millions of people around the world with autism and their families, no matter what autism looks like for them.

CASD presentations at INSAR 2019

Panel presentation: Clinical Presentation of ASD and Access to Care Among Girls

Allison Ratto, Ph.D., chaired a panel focused on the differences in performance on standard diagnostic tools based on the sex of autistic youth. The panel included presentations such as:

  • Sex Differences in Youth with ASD: Language Phenotype and Relation to Autism Behaviors from the ACE GENDAAR Network, presented by Sara Jane Webb of the University of Washington
  • Social Strengths of Autistic Girls: Sex Differences in Clinician-Rated and Parent-Reported Autistic Traits, presented by Dr. Ratto
  • Gender and Psychiatric Symptoms among Youth with ASD and ADHD, Alyssa Verbalis, Ph.D.
  • Evidence for Undertreatment of ADHD in Girls with ASD in the National Survey of Children’s Health, Kelly Register-Brown, M.D., MSc.

Oral and poster presentations

Oral session: Comparing Online and in-Person Parent Trainings to Support Executive Function and Self-Regulation: Feasibility, Acceptability, and Outcomes, presented by Lauren Kenworthy, Ph.D.

Poster sessions:

  • Executive Function and School-Based Interventions
    • Self-Report and Parent-Report Reveal Similar Patterns of Executive Function Problems in Autistic Adolescents, presented by Rachael Clinton and Charlotte Jeppsen
    • What Services Are Families of Children with Executive Function Challenges Getting? What Do Parents Say They Want?
    • A Mixed Methods Approach to Evaluation of Student Acceptability of the School-Based Interventions Unstuck and on Target and Parents and Teachers Supporting Students
    • A New Way to Help Parents? Exploring the Impact of School-Based Interventions on Parenting Outcomes
    • Executive Function and Academic Achievement in Autism Spectrum Disorder
    • Development of an Interactive, E-Learning Tool to Support Parent Implementation of an Executive Function Intervention
    • The Moderating Effects of Implementation Factors on Improvement in Classroom Behaviors in Unstuck and on Target and Contingency Behavior Management
  • Youth with ASD making the transition to adulthood
    • Preliminary Outcomes of a New Executive Function Treatment for Transition-Age Youth with ASD, presented by Cara Pugliese, Ph.D.
    • Self-determination in transition-aged individuals with autism spectrum disorder.
  • ASD population subgroups, including gender and ethnically diverse:
    • Parent-Teacher Discrepancy in Ratings of Executive Functioning in Black and White Children with ASD, presented by Serene Habayeb
    • Capturing the Autistic Experience: Self-Advocates Develop Self-Assessment Tools to Inform Autism Diagnosis and Validate Neuroimaging Findings across the Gender Spectrum
    • Comparing Parent-Report of Non-Intellectually Disabled Asian-American Youth with ASD and ADHD to Their White Peers
    • Autistic Traits in Transgender Youth: Dysphoria, Stigma, and Barriers to Care
    • Higher Rates of Gender Diversity in Children with ASD Based on Self-Report, Not Parent Report

Children’s National ranked No. 6 overall and No. 1 for newborn care by U.S. News

Children’s National in Washington, D.C., is the nation’s No. 6 children’s hospital and, for the third year in a row, its neonatology program is No.1 among all children’s hospitals providing newborn intensive care, according to the U.S. News Best Children’s Hospitals annual rankings for 2019-20.

This is also the third year in a row that Children’s National has been in the top 10 of these national rankings. It is the ninth straight year it has ranked in all 10 specialty services, with five specialty service areas ranked among the top 10.

“I’m proud that our rankings continue to cement our standing as among the best children’s hospitals in the nation,” says Kurt Newman, M.D., President and CEO for Children’s National. “In addition to these service lines, today’s recognition honors countless specialists and support staff who provide unparalleled, multidisciplinary patient care. Quality care is a function of every team member performing their role well, so I credit every member of the Children’s National team for this continued high performance.”

The annual rankings recognize the nation’s top 50 pediatric facilities based on a scoring system developed by U.S. News. The top 10 scorers are awarded a distinction called the Honor Roll.

“The top 10 pediatric centers on this year’s Best Children’s Hospitals Honor Roll deliver outstanding care across a range of specialties and deserve to be nationally recognized,” says Ben Harder, chief of health analysis at U.S. News. “According to our analysis, these Honor Roll hospitals provide state-of-the-art medical expertise to children with rare or complex conditions. Their rankings reflect U.S. News’ assessment of their commitment to providing high-quality, compassionate care to young patients and their families day in and day out.”

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

Below are links to the five specialty services that U.S. News ranked in the top 10 nationally:

The other five specialties ranked among the top 50 were cardiology and heart surgery, diabetes and endocrinology, gastroenterology and gastro-intestinal surgery, orthopedics, and urology.

nurse checking boy's blood sugar levels

Improving glycemic control in diabetic children

nurse checking boy's blood sugar levels

A 10-week pilot study at Children’s National Health System integrated weekly caregiver coaching, personalized glucose monitoring and incentives into standard treatment for 25 pediatric patients with type 1 diabetes, lowering A1c by .5%

The life of a type 1 diabetes patient – taking daily insulin shots or wearing an insulin pump, monitoring blood sugar, prioritizing healthful food choices and fitting in daily exercise – can be challenging at age 5 or 15, especially as holidays, field trips and sleepovers can disrupt diabetes care routines, creating challenges with compliance. This is why endocrinologists from Children’s National Health System experimented with using health coaches over a 10-week period to help families navigate care for children with type 1 diabetes.

By assembling a team of diabetes educators, dietitians, social workers, psychologists and health care providers, Fran Cogen, M.D., C.D.E., director of diabetes care at Children’s National, helped pediatric patients with type 1 diabetes manage their glycemic status, or blood-sugar control.

On Saturday, June 8, 2019, Dr. Cogen will share results of the pilot program as poster 1260-P, entitled “A Clinical Care Improvement Pilot Program: Individualized Health Coaching and Use of Incentives for Youth with Type 1 Diabetes and their Caregivers,” at the American Diabetes Association’s 79th Scientific Sessions, which takes place June 7-11 at the Moscone Center in San Francisco.

Dr. Cogen’s study was offered at no cost to caregivers of 179 patients at Children’s National seeking treatment for type 1 diabetes. The pilot program included two components: 1) Weekly phone calls or emails from a health coach to a caregiver with personalized insulin adjustments, based on patient blood sugars submitted through continuous glucose monitoring apps; and 2) Incentives for patients to participate in the program and reach health targets.

Twenty-five participants, ages 4-18, with a mean age of 11.6 and A1c ranges between 8.6 – 10% joined the study. The average A1c was 9.4% at the beginning of the program and dropped by an average of .5% at the end of the trial. Twenty of the 25 participants, 80%, improved A1c levels by .5%. Seventeen participants, 68%, improved A1c levels by more than .5%, while seven participants, 28%, improved A1c levels by more than 1%.

“Chronic disease is like a marathon,” says Dr. Cogen. “You need to have constant reinforcement and coaching to get people to do their best. Sometimes what drives people is to have people on the other end say, ‘Keep it up, you’re doing a good job, keep sending us information so that we can make changes to improve your child’s blood sugar management,’ which gives these new apps and continuous glucose monitoring devices a human touch.”

Instead of waiting three months between appointments to talk about ways a family can make changes to support a child’s insulin control and function, caregivers received feedback from coaches each week. Health coaches benefitted, too: They reported feeling greater empathy for patients, while becoming more engaged in personalizing care plans.

Families who participated received a gift card to a local grocery store, supporting a child’s dietary goals. Children who participated were also entered into an iPad raffle. Improvements in A1c levels generated extra raffle tickets per child, which motivated participants, especially teens.

“These incentives are helpful in order to get kids engaged in their health and in an immediate way,” says Dr. Cogen. “Teenagers aren’t always interested in long-term health outcomes, but they are interested in what’s happening right now. Fluctuating blood sugars can cause depression and problems with learning, while increasing risk for future complications, including eye problems, kidney problems and circulation problems. As health care providers, we know the choices children make today can influence their future health outcomes, which is why we designed this study.”

Moving forward, Dr. Cogen and the endocrinologists at Children’s National would like to study the impact of using this model over several months, especially for high-risk patients, while  asynchronously targeting information to drive behavior change – accommodating the needs of families, while delivering dose-specific recommendations from health care providers.

Dr. Cogen adds, “We’re moving away from office-centric research models and creating interventions where they matter: at home and with families in real time.”

Read more about the study at Healio.com and dLife.

Additional study authors, all of whom work within the division of diabetes and endocrinology at Children’s National, include Lauren Clary, Ph.D., Sue-Ann Airborne, C.D.E., Andrew Dauber, M.D., Meredith Dillon, R.D., L.D.N., C.D.E., Beakel Eshete, B.S.N., R.N., C.D.E., Shaina Hatchell, B.S.N., R.N., Shari Jones, R.N., C.D.E., and Priya Vaidyanathan, M.D.

child measuring his stomach

Cognitive function does not predict weight-loss outcome for adolescents

child measuring his stomach

Though young people with intellectual disabilities or cognitive impairment have greater rates of obesity and other comorbidities that impact their health and well-being, primary care providers are often reluctant to discuss or refer these patients for weight-loss surgery due to concerns about their ability to assent to both the surgery and the ongoing diet and lifestyle changes after surgery.

However, a study in Pediatrics authored by psychologists at Children’s National Health System finds that these young people, including those with Down syndrome, have similar weight-loss trajectories to those with typical cognitive function after bariatric surgery. The study is the first to look at post-surgical outcomes for this subgroup of adolescent bariatric surgery patients.

“It’s challenging to ensure that an adolescent who is cognitively impaired understands what it means to undergo a surgical procedure like bariatric surgery, but we do find ways to ensure assent whenever possible, and make sure the patient also has a guardian capable of consent,” says Sarah Hornack, Ph.D., a clinical psychologist at Children’s National and the study’s first author. “A very important determinant of post-surgical success for any young candidate, however, is a support structure to help them with weight-loss surgery requirements. Often, we see that adolescents with lower cognitive function already have a well-established support system in place to assist them with other care needs, that can easily adapt to providing structure and follow through after weight-loss surgery, too.”

The study reviewed outcomes for 63 adolescents ranging in age from 13 to 24 years old with an average body mass index of 51.2, all of whom were part of the bariatric surgery program at Children’s National Health System. The participants were diagnosed with cognitive impairment or intellectual disability via standardized cognitive assessments as part of a preoperative psychological evaluation or through a previous diagnosis. This study adds to the body of research that is helping to create standard criteria for bariatric surgery in adolescents and teenagers.

Children’s National is one of only a few children’s hospitals with accreditation from the Metabolic and Bariatric Surgery Accreditation and Quality Improvement Program of the American College of Surgeons and the American Society for Metabolic and Bariatric Surgery to offer bariatric surgery for adolescents with severe obesity. The extraordinary diversity of the patient population in Washington, D.C., including high rates of young people with obesity, allows the team to collect more comprehensive information about successful interventions across subgroups, including cognitive impairment or developmental disabilities, than nearly every other center in the United States.

“We’re happy to contribute evidence that can help families and care providers make informed health decisions for young people with intellectual disabilities or cognitive impairments. So many families are hoping to make sure that their children, despite disabilities, can be as healthy as possible in the long term,” says Eleanor Mackey, Ph.D., who is also a clinical psychologist at Children’s National and served as the study’s senior author. “Though the sample size is small, it does give credence to the idea that for many adolescents and teenagers, weight loss surgery may be a really viable option regardless of pre-existing conditions such as intellectual ability or cognitive function.”

Kaushalendra Amatya

Measuring quality of life after pediatric kidney transplant

Kaushalendra Amatya

“Overall, children who receive kidney transplants had minimal concerns about quality of life after their operation. While it’s comforting that most pediatric patients had no significant problems, the range of quality of life scores indicate that some patients had remarkable difficulties,” says Kaushalendra Amatya, Ph.D., a pediatric psychologist in Nephrology and Cardiology at Children’s National and the study’s lead author.

After receiving a kidney transplant, children may experience quality-of-life difficulties that underscore the importance of screening transplant recipients for psychosocial function, according to Children’s research presented May 4, 2019, during the 10th Congress of the International Pediatric Transplant Association.

About 2,000 children and adolescents younger than 18 are on the national waiting list for an organ transplant, according to the Department of Health and Human Services, with most infants and school-aged children waiting for a heart, liver or kidney and most children older than 11 waiting for a kidney or liver. In 2018, 1,895 U.S. children received transplants.

The research team at Children’s National wanted to hear directly from kids about their quality of life after kidney transplant in order to tailor timely interventions to children. Generally, recipients of kidney transplants have reported impaired quality of life compared with healthy peers, with higher mental health difficulties, disrupted sleep patterns and lingering pain.

The Children’s team measured general health-related quality of life using a 23-item PedsQL Generic Core module and measured transplant-related quality of life using the PedsQL- Transplant Module. The forms, which can be used for patients as young as 2, take about five to 10 minutes to complete and were provided to the child, the parent or the primary care giver – as appropriate – during a follow-up visit after the transplant.

Thirty-three patient-parent dyads completed the measures, with an additional 25 reports obtained from either the patient or the parent. The patients’ mean age was 14.2; 41.4% were female.

“Overall, children who receive kidney transplants had minimal concerns about quality of life after their operation. While it’s comforting that most pediatric patients had no significant problems, the range of quality of life scores indicate that some patients had remarkable difficulties,” says Kaushalendra Amatya, Ph.D., a pediatric psychologist in Nephrology and Cardiology at Children’s National and the study’s lead author.

When the study team reviewed reports given by parents, they found their descriptions sometimes differed in striking ways from the children’s answers.

“Parents report lower values on emotional functioning, social functioning and total core quality of life, indicating that parents perceive their children as having more difficulties across these specific domains than the patients’ own self reports do,” Amatya adds.

10th Congress of the International Pediatric Transplant Association presentation

  • “An exploration of health-related quality of life in pediatric renal transplant recipients.”

Kaushalendra Amatya, Ph.D., pediatric psychologist and lead author; Christy Petyak, CPNP-PC, nurse practitioner and co-author; and Asha Moudgil, M.D., medical director, transplant and senior author.

preterm brain scans

Early lipids in micropreemies’ diets can boost brain growth

preterm brain scans

Segmentation of a preterm brain T2-weighted MRI image at 30 gestational weeks [green=cortical grey matter; blue=white matter; grey=deep grey matter; cyan=lateral ventricle; purple=cerebellum; orange=brainstem; red=hippocampus; yellow=cerebrospinal fluid].

Dietary lipids, already an important source of energy for tiny preemies, also provide a much-needed brain boost by significantly increasing global brain volume as well as increasing volume in regions involved in motor activities and memory, according to research presented during the Pediatric Academic Societies 2019 Annual Meeting.

“Compared with macronutrients like carbohydrates and proteins, lipid intake during the first month of life is associated with increased overall and regional brain volume for micro-preemies,” says Catherine Limperopoulos, Ph.D., director of MRI Research of the Developing Brain at Children’s National and senior author. “Using non-invasive magnetic resonance imaging, we see increased volume in the cerebellum by 2 weeks of age. And at four weeks of life, lipids increase total brain volume and boost regional brain volume in the cerebellum, amygdala-hippocampus and brainstem.”

The cerebellum is involved in virtually all physical movement and enables coordination and balance. The amygdala processes and stores short-term memories. The hippocampus manages emotion and mood. And the brainstem acts like a router, passing messages from the brain to the rest of the body, as well as enabling essential functions like breathing, a steady heart rate and swallowing.

According to the Centers for Disease Control and Prevention, about 1 in 10 U.S. babies is born preterm, or before 37 weeks gestation. Regions of the brain that play vital roles in complex cognitive and motor activities experience exponential growth late in pregnancy, making the developing brains of preterm infants particularly vulnerable to injury and impaired growth.

Children’s research faculty examined the impact of lipid intake in the first month of life on brain volumes for very low birth weight infants, who weighed 1,500 grams or less at birth. These micro-preemies are especially vulnerable to growth failure and neurocognitive impairment after birth.

The team enrolled 68 micro-preemies who were 32 weeks gestational age and younger when they were admitted to Children’s neonatal intensive care unit during their first week of life. They measured cumulative macronutrients – carbohydrates, proteins, lipids and calories – consumed by these newborns at 2 and 4 weeks of life. Over years, Limperopoulos’ lab has amassed a large database of babies who were born full-term; this data provides unprecedented insights into normal brain development and will help to advance understanding of brain development in high-risk preterm infants.

“Even after controlling for average weight gain and other health conditions, lipid intake was positively associated with cerebellar and brainstem volumes in very low birthweight preterm infants,” adds Katherine M. Ottolini, the study’s lead author.

According to Limperopoulos, Children’s future research will examine the optimal timing and volume of lipids to boost neurodevelopment for micro-preemies.

Pediatric Academic Societies 2019 Annual Meeting presentation

  • “Early lipid intake improves brain growth in premature infants.”
    • Saturday, April 27, 2019, 1:15-2:30 p.m. (EST)

Katherine M. Ottolini, lead author; Nickie Andescavage, M.D., Attending, Neonatal-Perinatal Medicine and co-author; Kushal Kapse, research and development staff engineer and co-author; and Catherine Limperopoulos, Ph.D., director of MRI Research of the Developing Brain and senior author, all of Children’s National.

newborn in incubator

In HIE lower heart rate variability signals stressed newborns

newborn in incubator

In newborns with hypoxic-ischemic encephalopathy (HIE), lower heart rate variability correlates with autonomic manifestations of stress shortly after birth, underscoring the value of this biomarker, according to Children’s research presented during the Pediatric Academic Societies 2019 Annual Meeting.

Tethered to an array of machines that keep their bodies nourished, warm and alive, newborns with health issues can’t speak. But Children’s research teams are tapping into what the machinery itself says, looking for insights into which vulnerable infants are most in need of earlier intervention.

Heart rate variability – or the variation between heartbeats – is a sign of health. Our autonomic nervous system constantly sends signals to adjust our heart rate under normal conditions. We can measure heart rate variability non-invasively, providing a way to detect potential problems with the autonomic nervous system as a sensitive marker of health in critically ill newborns,” says An N. Massaro, M.D., co-Director of Research for the Division of Neonatology at Children’s National, and the study’s senior author. “We’re looking for validated markers of brain injury in babies with HIE, and our study helps to support heart rate variability as one such valuable physiological biomarker.”

In most newborns, the autonomic nervous system reliably and automatically receives information about the body and the outside world and, in response, controls essential functions like blood pressure, body temperature, how quickly the baby breathes and how rapidly the newborn’s heart beats. The sympathetic part stimulates body processes, while the parasympathetic part inhibits body processes. When the nervous system’s internal auto-pilot falters, babies can suffer.

The Children’s team enrolled infants with HIE in the prospective, observational study. (HIE is brain damage that occurs with full-term babies who experience insufficient blood and oxygen flow to the brain around the time they are born.) Fifteen percent had severe encephalopathy. Mean age of babies in the observational study was 38.9 weeks gestation. Their median Apgar score at five minutes was 3; the 0-9 Apgar range indicates how ready newborns are for the rigors of life outside the womb.

The team analyzed heart rate variability metrics for three time periods:

  • The first 24 to 27 hours of life
  • The first three hours after babies undergoing therapeutic cooling were rewarmed and
  • The first three hours after babies’ body temperature had returned to normal.

They correlated the relationship between heart rate variability for 68 infants during at least one of these time periods with the stress z-score from the NICU Network Neurobehavioral Scale. The scale is a standardized assessment of newborn’s neurobehavioral integrity. The stress summary score indicates a newborn’s overall stress response, and six test items specifically relate to autonomic function.

“Alpha exponent and root mean square in short timescales, root mean square in long timescales, as well as low and high frequency powers positively correlated with stress scores and, even after adjusting for covariates, remained independently associated at 24 hours,” says Allie Townsend, the study’s lead author.

Pediatric Academic Societies 2019 Annual Meeting presentation

  • “Heart rate variability (HRV) measures of autonomic nervous system (ANS) function relates to neonatal neurobehavioral manifestations of stress in newborn with hypoxic-ischemic encephalopathy (HIE).”
    • Monday, April 29, 2019, 5:45 p.m. (EST)

Allie Townsend, lead author; Rathinaswamy B. Govindan, Ph.D., staff scientist, Advanced Physiological Signals Processing Lab and co-author; Penny Glass, Ph.D., director, Child Development Program and co-author; Judy Brown, co-author; Tareq Al-Shargabi, M.S., co-author; Taeun Chang, M.D., director, Neonatal Neurology and Neonatal Neurocritical Care Program and co-author; Adré J. du Plessis, M.B.Ch.B., MPH, chief of the Division of Fetal and Transitional Medicine and co-author; An N. Massaro, M.D., co-Director of Research for the Division of Neonatology and senior author, all of Children’s National.

Claire Marie Vacher

Placental function linked to brain injuries associated with autism

Claire Marie Vacher

“We saw long-term cerebellar white matter alterations in male experimental models, and behavioral testing revealed social impairments and increased repetitive behaviors, two hallmark features of ASD,” says Claire-Marie Vacher, Ph.D., lead study author.

Allopregnanolone (ALLO), a hormone made by the placenta late in pregnancy, is such a potent neurosteroid that disrupting its steady supply to the developing fetus can leave it vulnerable to brain injuries associated with autism spectrum disorder (ASD), according to Children’s research presented during the Pediatric Academic Societies 2019 Annual Meeting.

In order to more effectively treat vulnerable babies, the Children’s research team first had to tease out what goes wrong in the careful choreography that is pregnancy. According to the Centers for Disease Control and Prevention, about 1 in 10 babies is born preterm, before 37 weeks of gestation. Premature birth is a major risk factor for ASD.

The placenta is an essential and understudied organ that is shared by the developing fetus and the pregnant mother, delivering oxygen, glucose and nutrients and ferrying out waste products. The placenta also delivers ALLO, a progesterone derivative, needed to ready the developing fetal brain for life outside the womb.

ALLO ramps up late in gestation. When babies are born prematurely, their supply of ALLO stops abruptly. That occurs at the same time the cerebellum – a brain region essential for motor coordination, posture, balance and social cognition– typically undergoes a dramatic growth spurt.

“Our experimental model demonstrates that losing placental ALLO alters cerebellar development, including white matter development,” says Anna Penn, M.D., Ph.D., a neonatologist in the divisions of Neonatology and Fetal Medicine, and a developmental neuroscientist at Children’s National. “Cerebellar white matter development occurs primarily after babies are born, so connecting a change in placental function during pregnancy with lingering impacts on later brain development is a particularly striking result.”

The research team created a novel experimental model in which the gene encoding the enzyme responsible for producing ALLO is deleted in the placenta. They compared these preclinical models with a control group and performed whole brain imaging and RNAseq gene expression analyses for both groups.

“We saw long-term cerebellar white matter alterations in male experimental models, and behavioral testing revealed social impairments and increased repetitive behaviors, two hallmark features of ASD,” says Claire-Marie Vacher, Ph.D., lead study author. “These male-specific outcomes parallel the increased risk of brain injury and ASD we see in human babies born prematurely.”

ALLO binds to specific GABA receptors, which control most inhibitory signaling in the nervous system.

“Our findings provide a new way to frame poor placental function: Subtle but significant changes in utero may set in motion neurodevelopmental disorders that children experience later in life,” adds Dr. Penn, the study’s senior author. “Future directions for our research could include identifying new targets in the placenta or brain that could be amenable to hormone supplementation, opening the potential for earlier treatment for high-risk fetuses.”

Pediatric Academic Societies 2019 Annual Meeting presentation

  • “Placental allopregnanolone loss alters postnatal cerebellar development and function.”
    • Sunday, April 28, 2019, 5:15 p.m. to 5:30 p.m. (EST)

Claire-Marie Vacher, Ph.D., lead author; Jackie Salzbank, co-author; Helene Lacaille, co-author; Dana Bakalar, co-author; Jiaqi O’Reilly, co-author; and Anna Penn, M.D., Ph.D., a neonatologist in the divisions of Neonatology and Fetal Medicine, developmental neuroscientist and senior study author.

Catherine Limperopoulos

Breastfeeding boosts metabolites important for brain growth

Catherine Limperopoulos

“Proton magnetic resonance spectroscopy, a non-invasive imaging technique that describes the chemical composition of specific brain structures, enables us to measure metabolites that may play a critical role for growth and explain what makes breastfeeding beneficial for newborns’ developing brains,” says Catherine Limperopoulos, Ph.D.

Micro-preemies who primarily consume breast milk have significantly higher levels of metabolites important for brain growth and development, according to sophisticated imaging conducted by an interdisciplinary research team at Children’s National.

“Our previous research established that vulnerable preterm infants who are fed breast milk early in life have improved brain growth and neurodevelopmental outcomes. It was unclear what makes breastfeeding so beneficial for newborns’ developing brains,” says Catherine Limperopoulos, Ph.D., director of MRI Research of the Developing Brain at Children’s National. “Proton magnetic resonance spectroscopy, a non-invasive imaging technique that describes the chemical composition of specific brain structures, enables us to measure metabolites essential for growth and answer that lingering question.”

According to the Centers for Disease Control and Prevention, about 1 in 10 U.S. infants is born preterm. The Children’s research team presented their findings during the Pediatric Academic Societies 2019 Annual Meeting.

The research-clinicians enrolled babies who were very low birthweight (less than 1,500 grams) and 32 weeks gestational age or younger at birth when they were admitted to Children’s neonatal intensive care unit in the first week of life. The team gathered data from the right frontal white matter and the cerebellum – a brain region that enables people to maintain balance and proper muscle coordination and that supports high-order cognitive functions.

Each chemical has its own a unique spectral fingerprint. The team generated light signatures for key metabolites and calculated the quantity of each metabolite. Of note:

  • Cerebral white matter spectra showed significantly greater levels of inositol (a molecule similar to glucose) for babies fed breast milk, compared with babies fed formula.
  • Cerebellar spectra had significantly greater creatine levels for breastfed babies compared with infants fed formula.
  • And the percentage of days infants were fed breast milk was associated with significantly greater levels of both creatine and choline, a water soluble nutrient.

“Key metabolite levels ramp up during the times babies’ brains experience exponential growth,” says Katherine M. Ottolini, the study’s lead author. “Creatine facilitates recycling of ATP, the cell’s energy currency. Seeing greater quantities of this metabolite denotes more rapid changes and higher cellular maturation. Choline is a marker of cell membrane turnover; when new cells are generated, we see choline levels rise.”

Already, Children’s National leverages an array of imaging options that describe normal brain growth, which makes it easier to spot when fetal or neonatal brain development goes awry, enabling earlier intervention and more effective treatment. “Proton magnetic resonance spectroscopy may serve as an important additional tool to advance our understanding of how breastfeeding boosts neurodevelopment for preterm infants,” Limperopoulos adds.

Pediatric Academic Societies 2019 Annual Meeting presentation

  • “Improved cerebral and cerebellar metabolism in breast milk-fed VLBW infants.”
    • Monday, April 29, 2019, 3:30–3:45 p.m. (EST)

Katherine M. Ottolini, lead author; Nickie Andescavage, M.D., Attending, Neonatal-Perinatal Medicine and co-author; Kushal Kapse, research and development staff engineer and co-author; Sudeepta Basu, M.D., neonatologist and co-author; and Catherine Limperopoulos, Ph.D., director of MRI Research of the Developing Brain and senior author, all of Children’s National.

An-Massaro

Looking for ‘help’ signals in the blood of newborns with HIE

An Massaro

“This data support our hypothesis that a panel of biomarkers – not a one-time test for a single biomarker – is needed to adequately determine the risk and timing of brain injury for babies with HIE,” says An N. Massaro, M.D.

Measuring a number of biomarkers over time that are produced as the body responds to inflammation and injury may help to pinpoint newborns who are more vulnerable to suffering lasting brain injury due to disrupted oxygen delivery and blood flow, according to research presented during the Pediatric Academic Societies 2019 Annual Meeting.

Hypoxic-ischemic encephalopathy (HIE) happens when blood and oxygen flow are disrupted around the time of birth and is a serious birth complication for full-term infants. To lessen the chance of these newborns suffering permanent brain injury, affected infants undergo therapeutic cooling, which temporarily lowers their body temperatures.

“Several candidate blood biomarkers have been investigated in HIE but we still don’t have one in clinical use.  We need to understand how these markers change over time before we can use them to direct care in patients,” says An N. Massaro, M.D., co-director of the Neonatal Neurocritical Care Program at Children’s National and the study’s senior author. “The newborns’ bodies sent out different ‘help’ signals that we detected in their bloodstream, and the markers had strikingly different time courses. A panel of plasma biomarkers has the potential to help us identify infants most in need of additional interventions, and to help us understand the most optimal timing for those interventions.”

Past research has keyed in on inflammatory cytokines and Tau protein as potential biomarkers of brain injury for infants with HIE who are undergoing therapeutic cooling. The research team led by Children’s faculty wanted to gauge which time periods to measure such biomarkers circulating in newborns’ bloodstreams. They enrolled 85 infants with moderate or severe HIE and tapped unused blood specimens that had been collected as cooling began, as well as 12, 24, 72 and 96 hours later. The infants’ mean gestational age was 38.7 weeks, their mean birth weight was about 7 pounds (3.2 kilograms), and 19% had severe brain disease (encephalopathy).

Cytokines – chemicals like Interleukin (IL) 6, 8 and 10 that regulate how the body responds to infection, inflammation and trauma – peaked in the first 24 hours of cooling for most of the newborns. However, the highest measure of Tau protein for the majority of newborns was during or after the baby’s temperature was restored to normal.

“After adjusting for clinical severity of encephalopathy and five-minute Apgar scores, IL-6, IL-8 and IL-10 predicted adverse outcomes, like severe brain injury or death, as therapeutic hypothermia began. By contrast, Tau protein measurements predicted adverse outcomes during and after the infants were rewarmed,” Dr. Massaro says.

IL-6 and IL-8 proteins are pro-inflammatory cytokines while IL-10 is considered anti-inflammatory.  These chemicals are released as a part of the immune response to brain injury. Tau proteins are abundant in nerve cells and stabilize microtubules.

“This data support our hypothesis that a panel of biomarkers – not a one-time test for a single biomarker – is needed to adequately determine the risk and timing of brain injury for babies with HIE,” she adds.

Pediatric Academic Societies 2019 Annual Meeting presentation

  • “Serial plasma biomarkers of brain injury in infants with hypoxic ischemic encephalopathy (HIE) treated with therapeutic hypothermia (TH).”
    • Saturday, April 27, 2019, 6 p.m. (EST)

Meaghan McGowan, lead author; Alexandra C. O’Kane, co-author; Gilbert Vezina, M.D.,  director, Neuroradiology Program and co-author; Tae Chang, M.D., director, Neonatal Neurology Program and co-author; and An N. Massaro, M.D., co-director of the Neonatal Neurocritical Care Program and senior author; all of Children’s National; and co-author Allen Everett, of Johns Hopkins School of Medicine.

Ololade Okito

Parents of older, healthier newborns with less social support less resilient

Ololade Okito

“We know that having a child hospitalized in the NICU can be a high-stress time for families,” says Ololade Okito, M.D., lead author of the cross-sectional study. “The good news is that as parental resiliency scores rise, we see a correlation with fewer symptoms of depression and anxiety.

Parents of older, healthier newborns who had less social support were less resilient during their child’s hospitalization in the neonatal intensive care unit (NICU), a finding that correlates with more symptoms of depression and anxiety, according to Children’s research presented during the Pediatric Academic Societies 2019 Annual Meeting.

Resiliency is the natural born, yet adaptable ability of people to bounce back in the face of significant adversity. Published research indicates that higher resilience is associated with reduced psychological distress, but the phenomenon had not been studied extensively in parents of children hospitalized in a NICU.

“We know that having a child hospitalized in the NICU can be a high-stress time for families,” says Ololade Okito, M.D., lead author of the cross-sectional study. “The good news is that as parental resiliency scores rise, we see a correlation with fewer symptoms of depression and anxiety. Parents who feel they have good family support also have higher resilience scores.”

The project is an offshoot of a larger study examining the impact of peer mentoring by other NICU parents who have experienced the same emotional rollercoaster ride as their tiny infants sometimes thrived and other times struggled.

The research team enrolled 35 parents whose newborns were 34 weeks gestation and younger and administered a battery of validated surveys, including:

Forty percent of these parents had high resilience scores; parents whose infants were a mean of 27.3 gestational weeks and who had more severe health challenges reported higher resilience. Another 40% of these parents had elevated depressive symptoms, while 31% screened positive for anxiety. Parental distress impairs the quality of parent-child interactions and long-term child development, the research team writes.

“Higher NICU-related stress correlates with greater symptoms of depression and anxiety in parents,” says Lamia Soghier, M.D., MEd, medical director of Children’s neonatal intensive care unit and the study’s senior author. “Specifically targeting interventions to these parents may help to improve their resilience, decrease the stress of parenting a child in the NICU and give these kids a healthier start to life.”

Pediatric Academic Societies 2019 Annual Meeting presentation

  • “Parental resilience and psychological distress in the neonatal intensive care unit (PARENT) study”
    • Tuesday, April 30, 2019, 7:30 a.m. (EST)

Ololade Okito, M.D., lead author; Yvonne Yui, M.D., co-author; Nicole Herrera, MPH, co-author; Randi Streisand, Ph.D., chief, Division of Psychology and Behavioral Health, and co-author; Carrie Tully, Ph.D., clinical psychologist and co-author; Karen Fratantoni, M.D., MPH, medical director, Complex Care Program, and co-author; and Lamia Soghier, M.D., MEd, medical unit director, neonatal intensive care unit, and senior author; all of Children’s National.

Mark Batshaw

40 years, 8 editions: Writing “Children With Disabilities”

Mark Batshaw

Forty years ago, Mark L. Batshaw, M.D., almost singlehandedly wrote a 23-chapter first edition that ran about 300 pages. Now Dr. Batshaw’s tome, “Children With Disabilities,” is in its eighth edition, and this new volume is almost 1,000 pages, with 42 chapters, two co-editors and over 35 authors from Children’s National.

Back in 1978, Mark L. Batshaw, M.D., was a junior faculty member at John’s Hopkins University School of Medicine. In the evenings he taught a course in the university’s School of Education  titled “The Medical and Physical Aspects of the Handicapped Child,” for Master’s level special education students. Because no textbook at that time focused on that specific topic, Batshaw developed his own slide set.

“At the end of the first year of teaching the course my students said ‘You really ought to consider writing a text book based on your slides to help us move forward,’ ” Dr. Batshaw recalls. The father of three carved out time by writing on weekends and at night, cutting back on sleep.

His first goal was to create a textbook that would serve as a curriculum for a series of courses that would be taught at universities to specialists who work with children with disabilities, including social workers, physical and occupational therapists, speech and language pathologists, special education teachers, nurses, doctors and dentists.

“I wanted to cover the whole range of disabilities and divided the book initially into a series of sections, including embryology, to help students understand what can go wrong in fetal development to lead to a developmental disability; and chapters on each developmental disability, including autism, attention-deficit/hyperactivity disorder (ADHD), cerebral palsy, learning disabilities and traumatic brain injury,” he says. “The third section was devoted to available treatments, including occupational and physical therapy, speech language therapy, nutrition and medications. The final section focused on outcomes.”

His second aim was for the book to serve as a reference text for professionals in the field. The 33-year-old contacted a brand-new new publisher, Paul H. Brookes Publishing Co., that focused on special education. “They took a chance on me, and I took a chance on them,” he says.

Forty years ago, he almost singlehandedly produced a 23-chapter first edition that ran about 300 pages. Now Dr. Batshaw’s tome is in its eighth edition, and this new volume is almost 1,000 pages. And, rather than being its sole author, Dr. Batshaw enlisted two co-editors and at least five dozen authors who contributed specialty expertise in genetic counseling, social work, physical and occupational therapy, medicine and nursing. His daughter, Elissa, a special education teacher and school psychologist, authored a chapter about special education services, and his son, Drew, an executive at a start-up company, contributed autobiographical letters about the effect ADHD has had on his life.

The book, “Children With Disabilities,” also includes:

  • A glossary of medical terms so that as the reader reviews patient reports they can easily look up an unfamiliar term
  • An appendix on commonly used drugs to treat children with disabilities in order to look up the medicine by name and see the range of doses
  • An appendix devoted to different syndromes children might have
  • A reference section with organizations and foundations that help children with disabilities
  • A web site with sections designed for students and other content designed for teachers with thought questions to guide practical use of information in each chapter and more than 450 customizable PowerPoint slides for download
  • Call-out boxes for interdisciplinary team members, such as genetic counselors, explaining the roles they serve and their educational background, and
  • Excerpts of recent research articles.

“The students say they don’t sell the book. Usually when students have a textbook, they try to sell it second hand after the course ends,” explains Dr. Batshaw, now Executive Vice President, Physician-in-Chief and Chief Academic Officer at Children’s National. “Instead, students keep it and use it as a practical reference as they become professionals in their field. It has had the impact I had hoped for both as a textbook and a reference book: They say they refer to it when they have patients with a particular disorder they’re not used to treating to read up on it.”

Now a bestseller, there are more than 200,000 copies in print, including Portuguese and Ukrainian translations. “It didn’t start that way. It grew organically,” he says.

In addition to Dr. Batshaw, Children’s contributors to “Children With Disabilities” include Nicholas Ah Mew, M.D., pediatric geneticist; Nickie N. Andescavage, M.D., neonatologist; Mackenzie E. Brown, D.O., fellow in Pediatric Rehabilitation Medicine; Justin M. Burton, M.D., chief, Division of Pediatric Rehabilitation Medicine; Gabrielle Sky Cardwell, BA, clinical research assistant; Catherine Larsen Coley, PT, DPT, PCS, physical therapist; Laurie S. Conklin, M.D., pediatric gastroenterologist; Denice Cora-Bramble, M.D., MBA, executive vice president and chief medical officer; Heather de Beaufort, M.D., pediatric ophthalmologist; Dewi Frances T. Depositario-Cabacar, M.D., pediatric neurologist; Lina Diaz-Calderon, M.D., fellow in Pediatric Gastroenterology; Olanrewaju O. Falusi, M.D., associate medical director of municipal and regional affairs, Child Health Advocacy Institute; Melissa Fleming, M.D., pediatric rehabilitation specialist; William Davis Gaillard, M.D., chief Division of Epilepsy, Neurophysiology and Critical Care; Satvika Garg, Ph.D., occupational therapist; Virginia C. Gebus, R.N., MSN, APN, CNSC, nutritionist; Monika K. Goyal, M.D., MSCE, assistant chief, Division of Emergency Medicine; Andrea Gropman, M.D., chief, Division of Neurodevelopmental Pediatrics and Neurogenetics, geneticist and Neurodevelopmental pediatrician; Mary A. Hadley, BS, senior executive assistant; Susan Keller, MLS., MS-HIT, research librarian; Lauren Kenworthy, Ph.D., director, Center for Autism Spectrum Disorders; Monisha S. Kisling, MS, CGC, genetic counselor; Eyby Leon, M.D., pediatric geneticist; Erin MacLeod, Ph.D., RD, LD, director, Metabolic Nutrition; Margaret B. Menzel, MS, CGC, genetic counselor; Shogo John Miyagi, Ph.D., PharmD, BCPPS, Pediatric Clinical Pharmacology fellow; Mitali Y. Patel, DDS, program director, Pediatric Dentistry; Deborah Potvin, Ph.D., neuropsychologist; Cara E. Pugliese, Ph.D., clinical psychologist; Khodayar Rais-Bahrami, M.D., neonatologist and director, Neonatal-Perinatal Medicine Fellowship Program; Allison B. Ratto, Ph.D., clinical psychologist; Adelaide S. Robb, M.D., chief, Division of Psychiatry and Behavioral Sciences; Joseph Scafidi, D.O., neonatal neurologist; Erik Scheifele, D.M.D., chief, Division of Oral Health; Rhonda L. Schonberg, MS, CGC, genetic counselor; Billie Lou Short, M.D., chief, Division of Neonatology; Kara L. Simpson, MS, CGC, genetic counselor; Anupama Rao Tate, D.M.D., MPH, pediatric dentist; Lisa Tuchman, M.D., chief, Division of Adolescent and Young Adult Medicine; Johannes N. van den Anker, M.D., Ph.D., FCP, chief, Division of Clinical Pharmacology, Vice Chair of Experimental Therapeutics; Miriam Weiss, CPNP-PC, nurse practitioner; and Tesfaye Getaneh Zelleke, M.D., pediatric neurologist.

Billie Lou Short and Kurt Newman at Research and Education Week

Research and Education Week honors innovative science

Billie Lou Short and Kurt Newman at Research and Education Week

Billie Lou Short, M.D., received the Ninth Annual Mentorship Award in Clinical Science.

People joke that Billie Lou Short, M.D., chief of Children’s Division of Neonatology, invented extracorporeal membrane oxygenation, known as ECMO for short. While Dr. Short did not invent ECMO, under her leadership Children’s National was the first pediatric hospital to use it. And over decades Children’s staff have perfected its use to save the lives of tiny, vulnerable newborns by temporarily taking over for their struggling hearts and lungs. For two consecutive years, Children’s neonatal intensive care unit has been named the nation’s No. 1 for newborns by U.S. News & World Report. “Despite all of these accomplishments, Dr. Short’s best legacy is what she has done as a mentor to countless trainees, nurses and faculty she’s touched during their careers. She touches every type of clinical staff member who has come through our neonatal intensive care unit,” says An Massaro, M.D., director of residency research.

For these achievements, Dr. Short received the Ninth Annual Mentorship Award in Clinical Science.

Anna Penn, M.D., Ph.D., has provided new insights into the central role that the placental hormone allopregnanolone plays in orderly fetal brain development, and her research team has created novel experimental models that mimic some of the brain injuries often seen in very preterm babies – an essential step that informs future neuroprotective strategies. Dr. Penn, a clinical neonatologist and developmental neuroscientist, “has been a primary adviser for 40 mentees throughout their careers and embodies Children’s core values of Compassion, Commitment and Connection,” says Claire-Marie Vacher, Ph.D.

For these achievements, Dr. Penn was selected to receive the Ninth Annual Mentorship Award in Basic and Translational Science.

The mentorship awards for Drs. Short and Penn were among dozens of honors given in conjunction with “Frontiers in Innovation,” the Ninth Annual Research and Education Week (REW) at Children’s National. In addition to seven keynote lectures, more than 350 posters were submitted from researchers – from high-school students to full-time faculty – about basic and translational science, clinical research, community-based research, education, training and quality improvement; five poster presenters were showcased via Facebook Live events hosted by Children’s Hospital Foundation.

Two faculty members won twice: Vicki Freedenberg, Ph.D., APRN, for research about mindfulness-based stress reduction and Adeline (Wei Li) Koay, MBBS, MSc, for research related to HIV. So many women at every stage of their research careers took to the stage to accept honors that Naomi L.C. Luban, M.D., Vice Chair of Academic Affairs, quipped that “this day is power to women.”

Here are the 2019 REW award winners:

2019 Elda Y. Arce Teaching Scholars Award
Barbara Jantausch, M.D.
Lowell Frank, M.D.

Suzanne Feetham, Ph.D., FAA, Nursing Research Support Award
Vicki Freedenberg, Ph.D., APRN, for “Psychosocial and biological effects of mindfulness-based stress reduction intervention in adolescents with CHD/CIEDs: a randomized control trial”
Renee’ Roberts Turner for “Peak and nadir experiences of mid-level nurse leaders”

2019-2020 Global Health Initiative Exploration in Global Health Awards
Nathalie Quion, M.D., for “Latino youth and families need assessment,” conducted in Washington
Sonia Voleti for “Handheld ultrasound machine task shifting,” conducted in Micronesia
Tania Ahluwalia, M.D., for “Simulation curriculum for emergency medicine,” conducted in India
Yvonne Yui for “Designated resuscitation teams in NICUs,” conducted in Ghana
Xiaoyan Song, Ph.D., MBBS, MSc, “Prevention of hospital-onset infections in PICUs,” conducted in China

Ninth Annual Research and Education Week Poster Session Awards

Basic and Translational Science
Faculty:
Adeline (Wei Li) Koay, MBBS, MSc, for “Differences in the gut microbiome of HIV-infected versus HIV-exposed, uninfected infants”
Faculty: Hayk Barseghyan, Ph.D., for “Composite de novo Armenian human genome assembly and haplotyping via optical mapping and ultra-long read sequencing”
Staff: Damon K. McCullough, BS, for “Brain slicer: 3D-printed tissue processing tool for pediatric neuroscience research”
Staff: Antonio R. Porras, Ph.D., for “Integrated deep-learning method for genetic syndrome screening using facial photographs”
Post docs/fellows/residents: Lung Lau, M.D., for “A novel, sprayable and bio-absorbable sealant for wound dressings”
Post docs/fellows/residents:
Kelsey F. Sugrue, Ph.D., for “HECTD1 is required for growth of the myocardium secondary to placental insufficiency”
Graduate students:
Erin R. Bonner, BA, for “Comprehensive mutation profiling of pediatric diffuse midline gliomas using liquid biopsy”
High school/undergraduate students: Ali Sarhan for “Parental somato-gonadal mosaic genetic variants are a source of recurrent risk for de novo disorders and parental health concerns: a systematic review of the literature and meta-analysis”

Clinical Research
Faculty:
Amy Hont, M.D., for “Ex vivo expanded multi-tumor antigen specific T-cells for the treatment of solid tumors”
Faculty: Lauren McLaughlin, M.D., for “EBV/LMP-specific T-cells maintain remissions of T- and B-cell EBV lymphomas after allogeneic bone marrow transplantation”

Staff: Iman A. Abdikarim, BA, for “Timing of allergenic food introduction among African American and Caucasian children with food allergy in the FORWARD study”
Staff: Gelina M. Sani, BS, for “Quantifying hematopoietic stem cells towards in utero gene therapy for treatment of sickle cell disease in fetal cord blood”
Post docs/fellows/residents: Amy H. Jones, M.D., for “To trach or not trach: exploration of parental conflict, regret and impacts on quality of life in tracheostomy decision-making”
Graduate students: Alyssa Dewyer, BS, for “Telemedicine support of cardiac care in Northern Uganda: leveraging hand-held echocardiography and task-shifting”
Graduate students: Natalie Pudalov, BA, “Cortical thickness asymmetries in MRI-abnormal pediatric epilepsy patients: a potential metric for surgery outcome”
High school/undergraduate students:
Kia Yoshinaga for “Time to rhythm detection during pediatric cardiac arrest in a pediatric emergency department”

Community-Based Research
Faculty:
Adeline (Wei Li) Koay, MBBS, MSc, for “Recent trends in the prevention of mother-to-child transmission (PMTCT) of HIV in the Washington, D.C., metropolitan area”
Staff: Gia M. Badolato, MPH, for “STI screening in an urban ED based on chief complaint”
Post docs/fellows/residents:
Christina P. Ho, M.D., for “Pediatric urinary tract infection resistance patterns in the Washington, D.C., metropolitan area”
Graduate students:
Noushine Sadeghi, BS, “Racial/ethnic disparities in receipt of sexual health services among adolescent females”

Education, Training and Program Development
Faculty:
Cara Lichtenstein, M.D., MPH, for “Using a community bus trip to increase knowledge of health disparities”
Staff:
Iana Y. Clarence, MPH, for “TEACHing residents to address child poverty: an innovative multimodal curriculum”
Post docs/fellows/residents:
Johanna Kaufman, M.D., for “Inpatient consultation in pediatrics: a learning tool to improve communication”
High school/undergraduate students:
Brett E. Pearson for “Analysis of unanticipated problems in CNMC human subjects research studies and implications for process improvement”

Quality and Performance Improvement
Faculty:
Vicki Freedenberg, Ph.D., APRN, for “Implementing a mindfulness-based stress reduction curriculum in a congenital heart disease program”
Staff:
Caleb Griffith, MPH, for “Assessing the sustainability of point-of-care HIV screening of adolescents in pediatric emergency departments”
Post docs/fellows/residents:
Rebecca S. Zee, M.D., Ph.D., for “Implementation of the Accelerated Care of Torsion (ACT) pathway: a quality improvement initiative for testicular torsion”
Graduate students:
Alysia Wiener, BS, for “Latency period in image-guided needle bone biopsy in children: a single center experience”

View images from the REW2019 award ceremony.

Beth Tarini

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

Beth Tarini

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Nickie Andescavage

To understand the preterm brain, start with the fetal brain

Nickie Andescavage

“My best advice to future clinician-scientists is to stay curious and open-minded; I doubt I could have predicted my current research interest or described the path between the study of early oligodendrocyte maturation to in vivo placental development, but each experience along the way – both academic and clinical – has led me to where I am today,” Nickie Andescavage, M.D., writes.

Too often, medical institutions erect an artificial boundary between caring for the developing fetus inside the womb and caring for the newborn whose critical brain development continues outside the womb.

“To improve neonatal outcomes, we must transform our current clinical paradigms to begin treatment in the intrauterine period and continue care through the perinatal transition through strong collaborations with obstetricians and fetal-medicine specialists,” writes Nickie Andescavage, M.D., an attending in Neonatal-Perinatal Medicine at Children’s National.

Dr. Andescavage’s commentary was published online March 25, 2019, in Pediatrics Research and accompanies recently published Children’s research about differences in placental development in the setting of placental insufficiency. Her commentary is part of a new effort by Nature Publishing Group to spotlight research contributions from early career investigators.

The placenta, an organ shared by a pregnant woman and the developing fetus, plays a critical but underappreciated role in the infant’s overall health. Under the mentorship of Catherine Limperopoulos, Ph.D., director of MRI Research of the Developing Brain, and Adré J. du Plessis, M.B.Ch.B., MPH, chief of the Division of Fetal and Transitional Medicine, Dr. Andescavage works with interdisciplinary research teams at Children’s National to help expand that evidence base. She has contributed to myriad published works, including:

While attending Cornell University as an undergraduate, Dr. Andescavage had an early interest in neuroscience and neurobehavior. As she continued her education by attending medical school at Columbia University, she corroborated an early instinct to work in pediatrics.

It wasn’t until the New Jersey native began pediatric residency at Children’s National that those complementary interests coalesced into a focus on brain autoregulation and autonomic function in full-term and preterm infants and imaging the brains of both groups. In normal, healthy babies the autonomic nervous system regulates heart rate, blood pressure, digestion, breathing and other involuntary activities. When these essential controls go awry, babies can struggle to survive and thrive.

“My best advice to future clinician-scientists is to stay curious and open-minded; I doubt I could have predicted my current research interest or described the path between the study of early oligodendrocyte maturation to in vivo placental development, but each experience along the way – both academic and clinical – has led me to where I am today,” Dr. Andescavage writes in the commentary.

Assorted foods

Tamp down food allergy anxieties with this quiz


Asthma is associated with severe obstructive sleep apnea in children

Pulmonologists have often observed a link between asthma and the need for continuous positive airway pressure treatment (CPAP) among children with severe obstructive sleep apnea syndrome (OSAS).

Now, research published in the March 2019 issue of the journal Pediatric Pulmonology confirms the correlation.

Four-hundred eligible children with severe OSAS were included in a randomized, controlled study that took place at Children’s National Health System between September 2015 and June 2017. The mean age among study participants, ages 0 to 20, was 7.

Out of the 400 severe OSAS study participants, 113 children, about one-third, had asthma. Those with asthma were 29% more likely to require CPAP, compared to 14% of study participants without asthma. This association was independent of demographics, OSAS severity, obesity and a history of adenotonsillectomy, an operation to remove the tonsils.

“This is the first randomized, controlled study to test the association between asthma and CPAP among children with severe sleep apnea,” says Gustavo Nino, M.D., a corresponding study author, a pediatric pulmonologist and the director of sleep medicine at Children’s National Health System. “We’ve seen similar patterns in adults, but we needed to confirm the link in children to provide preventive screenings and personalized treatment.”

Dr. Nino mentions the goal now is to detect symptoms earlier, whether this occurs at an annual wellness exam with a pediatrician or at the first visit with a sleep medicine specialist.

“The next step for our research team, or for others interested in this topic, is to explore how these factors influence each other,” adds Dr. Nino. “Asthma itself is worse when you sleep. This leads us to wonder if obstructive sleep apnea exacerbates symptoms of asthma. Or could controlling asthma decrease the risk for CPAP therapy among children with severe obstructive sleep apnea?”

Until these questions have answers, Dr. Nino encourages pediatricians and specialists to keep the association in mind, especially since 7 million children nationwide have asthma, including 13,981 children in the District.

Parents should know that children who have severe obstructive sleep apnea and asthma are more likely to need extensive treatment, like CPAP, to maintain a positive flow of air to the nasal passages to keep the airway open.

Managing symptoms of asthma is also something parents can do at home, especially with the onset of spring asthma triggers, such as pollen, dust, dander, mold and smoke.

For help creating an asthma action plan, visit the Centers for Disease Control and Prevention.

Robin Steinhorn in the NICU

Coming together as a team for the good of the baby

Robin Steinhorn in the NICU

Children’s National has a new program to care for children who have severe bronchopulmonary dysplasia, a serious complication of preterm birth.

Around the 1-year-old’s crib is a tight circle of smiling adults, and at the foot of his bed is a menagerie of plush animals, each a different color and texture and shape to spark his curiosity and sharpen his intellect.

Gone are the days a newborn with extremely complex medical needs like Elijah would transfer from the neonatal intensive care unit (NICU) to the pediatric intensive care unit and transition through a couple of other hospital units by the time he was discharged. Gone are the days when he’d see a variety of new physician faces at every stop. And gone are the days he’d be confined to his room, divorced from the sights and sounds and scents of the outside world, stimulation that helps little baby’s neural networks grow stronger.

Children’s National has a new program designed to meet the unique needs of children like Elijah who have severe bronchopulmonary dysplasia (BPD), a common complication of preterm birth.

“It’s more forward-thinking – and I mean thinking for the future of each individual baby, and it’s allowing the baby to have one team and one location to take advantage of a deep knowledge of and relationship with that baby and family,” says Robin Steinhorn, M.D. Dr. Steinhorn is senior vice president of the Center for Hospital-Based Specialties and one of Children’s multidisciplinary team members who visited Elijah’s bed twice weekly during his lengthy hospitalization and who continues to see him regularly during outpatient visits.

“The pulmonologist, the neonatologist, the respiratory therapist, the physical therapist, the dietitian, the cardiologist – we all come as a team to work together for the good of the baby,” Dr. Steinhorn adds. “We stick with these babies through thick and thin. We will stick with that baby with this team and this location until they are ready to go home – and beyond.”

BPD, a serious lung condition, mostly affects extremely low birthweight preterm babies whose lungs were designed to continue developing inside the womb until the pregnancy reaches full term. Often born months before their due dates, these extremely vulnerable newborns have immature organs, including the lungs, which are not ready for the task of breathing air. Children’s program targets infants who experience respiratory failure from BPD. The respiratory support required for these infants ranges from oxygen delivered through a nasal cannula to mechanical ventilators.

Robin Steinhorn and Colleague

“It’s more forward-thinking – and I mean thinking for the future of each individual baby, and it’s allowing the baby to have one team and one location to take advantage of a deep knowledge of and relationship with that baby and family,” says Robin Steinhorn, M.D.

About 1 percent of all preterm births are extremely low birthweight, or less than 1,500 grams. Within that group, up to 40 percent will develop BPD. While they represent a small percentage of overall births, these very sick babies need comprehensive, focused care for the first few years of their lives. And some infants with severe BPD also have pulmonary hypertension which, at Children’s National, is co-managed by cardiology and pulmonary specialists.

Children’s BPD team not only focuses on the child’s survival and medical care, they focus on the neurodevelopmental and social care that a baby needs to thrive. From enhanced nutrition to occupational and physical therapy to a regular sleep cycle, the goal is to help these babies achieve their full potential.

“These babies are at tremendous risk for long-term developmental issues. Everything we do is geared to alleviate that,” adds John T. Berger III, M.D., director of Children’s Pulmonary Hypertension Program.

“Our NICU care is more focused, comprehensive and consistent,” agrees Mariam Said, M.D., a neonatologist on the team. “We’re also optimizing the timing of care and diagnostic testing that will directly impact health outcomes.”

Leaving no detail overlooked, the team also ensures that infants have age-appropriate developmental stimuli, like toys, and push for early mobility by getting children up and out of bed and into a chair or riding in a wagon.

“The standard approach is to keep the baby in a room with limited physical or occupational therapy and a lack of appropriate stimulation,” says Geovanny Perez, M.D., a pulmonologist on the team. “A normal baby interacts with their environment inside the home and outside the home. We aim to mimic that within the hospital environment.”

Dr. Steinhorn, who had long dreamed of creating this comprehensive team care approach adds that “it’s been so gratifying to see it adopted and embraced so quickly by Children’s NICU caregivers.”