Jul 21 2014

Putting a Dollar Amount to Autism Pays Off

autismAutism spectrum disorders (ASDs) have an enormous price tag, and experts at The Children’s Hospital of Philadelphia are hoping that all those dollar signs add up to increased attention on new research and more coordinated ways to support patients with autism throughout adulthood.

One in 68 children in the United States has ASD, making it the fastest-growing disability. It is a complex neurological and developmental condition characterized by marked deficiencies in social interaction and communication and various behavioral issues. While individual presentations may vary, the signs of ASD usually appear during the first three years of life.

David S. Mandell, ScD, associate director of the Center for Autism Research at CHOP, and co-investigators in London updated estimates of the economic effects of ASDs on individuals and their families in the U.S. and U.K. They published their results online recently in JAMA Pediatrics. The lifetime cost of supporting a patient with an ASD and intellectual disability was $2.2 million in the U.S., and the lifetime cost for a patient with an ASD without an intellectual disability was $1.4 million in the U.S.

“They are staggering numbers in many ways,” said Dr. Mandell, who is also an associate professor of psychiatry and pediatrics at the University of Pennsylvania’s Perelman School of Medicine, where he directs the Center for Mental Health Policy and Services Research. “What is most intriguing about the study is what is driving those costs.”

For families, when their child with autism is young, special education costs were the largest cost component. Lost parental wages — especially for mothers who often must leave the workplace in order to care for their children — was another hefty economic hit. Productivity loss was estimated to be $18,720 annually for U.S. caregivers of children with ASD.

A key finding, Dr. Mandell pointed out, is that most of the expenses associated with autism accrue in adulthood. Society tends to think of autism as a pediatric concern, but it is a lifelong disorder. Residential care represents a substantial portion of those annual costs in the U.S.: $36,000 for adults with an ASD who have an intellectual disability, and about half that amount for adults with an ASD without an intellectual disability.

While some adults with autism have significant impairments and require expensive 24-hour residential care in a stable, supervised environment, many others who have participated in early interventions continue to develop their skills when given social coaching and job training so that they can work and live in less restrictive housing arrangements.

“I hope that advocates will use this information to support the importance of paying for intensive, evidence-based care for children with autism that has the goal of increasing their potential for full participation in their communities, which also may come with cost-savings,” Dr. Mandell said.

Part of the challenge to conducting this study, Dr. Mandell said, is that no gigantic spreadsheet listing all of these costs in one place exists. In addition to performing an extensive literature review conducted in 2013 concentrating on U.S. and U.K studies, Dr. Mandell and his co-authors relied on a number of sources to estimate cost-related data. For future studies, he encourages multiple systems to collaborate and perform longitudinal, population-based data collection so that researchers have easier access to metrics that can be used to assess the efficiency and effectiveness of autism care on a more regular basis.

Autism Speaks, the world’s leading autism science and advocacy organization, supported this study.

Permanent link to this article: http://www.research.chop.edu/blog/putting-dollar-amount-autism-pays/

Jul 17 2014

Study Shows Evaluators Can Screen for Eye Disease Remotely

retinopathy of prematurityA study recently published in JAMA Ophthalmology shows trained evaluators who studied retinal images transmitted to computer screens successfully identified newborn infants likely to require a specialized evaluation for retinopathy of prematurity (ROP), a leading cause of treatable blindness. Findings from a new study strengthen the case for using telemedicine to address unmet medical needs of preterm babies worldwide who cannot be initially evaluated by ophthalmologists.

“This study provides validation for a telemedicine approach to ROP screening and could help prevent thousands of kids from going blind,” said lead investigator Graham E. Quinn, MD, MSCE, a pediatric ophthalmologist at The Children’s Hospital of Philadelphia. Dr. Quinn is the corresponding author and principal investigator of the study of remote evaluation of ROP conducted by the e-ROP Cooperative Group, a collaboration among neonatal intensive care units in 13 North American centers.

ROP involves an abnormal growth of blood vessels in the retina that may lead to scarring, retinal detachment and, in severe cases, blindness. Some degree of retinopathy of prematurity occurs in more than half of all infants born at 30 weeks gestation or earlier, but only five to eight percent of cases become severe enough to warrant treatment. Because early detection and prompt treatment are essential to identifying high-risk eyes, the American Academy of Ophthalmology recommends routine screening for all infants born at or before 30 weeks gestation or weighing less than 3.3 pounds.

In recent years, the U.S. has seen a decline in the number of ophthalmologists who conduct ROP screening examinations. To address the public health issue of detecting potentially serious ROP, the e-ROP Cooperative Group tested the validity of a telemedicine approach by comparing evaluations by ophthalmologists with those done independently by trained non-physician image readers.

Study Examined Patients Across the U.S. and Canada

The study team analyzed results in 1,257 premature infants in neonatal intensive care units (NICUs) at centers in the U.S. and Canada from 2011 to 2013. On average, the babies were 13 weeks premature and all weighed less than 1251 grams (about 2.75 pounds) at birth.

The infants all received regularly scheduled diagnostic examinations by an ophthalmologist who determined whether their ROP had a severity that warranted referral for further evaluation (designated RW-ROP). In addition, NICU staff members, called certified retinal imagers, took retinal photographs of all the infants, and those images were transmitted to trained image readers at the University of Pennsylvania. The image readers, all of them non-physicians, followed a standard protocol to assess whether features of RW-ROP were present in retinal images.

The image readers were unaware of which infants had been designated by the ophthalmologists as needing referral. The two groups had broadly similar results: the image readers identified 90 percent of the infants that ophthalmologists rated as having RW-ROP. When the readers did not find RW-ROP on grading, 87 percent of the time the ophthalmologist had not noted RW-ROP on the examination either.

Among the 244 babies that the ophthalmologists identified as having findings consistent with RW-ROP, 162 subsequently received treatment. Of these 162 infants, the non-physician image readers identified RW-ROP in 159 of them, meaning that 98 times out of a hundred, the eye was identified as a high-risk eye.

The investigators pointed out several potential advantages of telemedicine screening for ROP. Non-physician imagers could perform retinal imaging more frequently than ophthalmologists, and NICU staff can implement an imaging schedule individualized to specific babies. Grading of retinal photographs could allow a more standardized approach to ROP screening, while reducing the numbers of babies needing to be examined by ophthalmologists could thus lower the costs of routine retinopathy of prematurity screening. Finally, remote screening could decrease the number of unnecessary patient transfers to larger nurseries with more on-site ophthalmologists.

To see a video about e-ROP, visit the National Eye Institute YouTube channel at

Permanent link to this article: http://www.research.chop.edu/blog/study-shows-evaluators-can-screen-eye-disease-remotely/

Jul 15 2014

CHOP Researchers Discover Postsurgical Pain Gene Variants

painIn the first genome-wide analysis of postsurgical pain in children, pediatric researchers identified variations in genes that affect a child’s need for pain-control drugs. The findings suggest that at some point physicians may calibrate pain-medication dosages according to a child’s individual genetic makeup.

“Although this research is only a first step for our team, it provides tremendous new insight into the biological mechanisms and brings us a little closer to personalizing medicine for pain control,” said Scott D. Cook-Sather, MD, a pediatric anesthesiologist at The Children’s Hospital of Philadelphia. Dr. Cook-Sather and colleagues — including Hakon Hakonarson, MD, PhD, the director of the Center for Applied Genomics — published the study recently in the journal Pain.

The study team performed a genome-wide association study (GWAS) of more than 600 children between ages 4 and 18 who had tonsils and adenoids removed in day long surgery procedures. The retrospective study analyzed whether gene variants were associated with the need for higher or lower than average dosages of morphine for pain control. The researchers also analyzed genetic links to postoperative pain scores. The GWAS identified one gene location linked to increased morphine requirement.

“While scientists already know that morphine works by binding to specific opioid receptors in the nervous system,” added Dr. Cook-Sather, “we don’t know exactly why there is, in this setting, a tenfold variation in how much morphine patients require for pain relief.” The study team found that two single-base gene variants at the TAOK3 locus were associated with approximately 8 percent of that tenfold variance in morphine requirement, comparable to that portion of the variance associated with age, body mass and overall health status combined.

Dr. Cook-Sather explained that multiple genes are assumed to contribute to these analgesic effects, and that further investigations, with larger numbers of patients, are needed to understand and prioritize the full array of genes that modify morphine response.

Within their initial sample of 617 children, the researchers found that the association between the variants in TAOK3 and the morphine dose needed for pain relief held up for children of European ancestry but not for African-American children. In both groups, however, the gene variants correlated with increased postoperative pain. “Future investigations,” said Dr. Cook-Sather, “may help us predict which patients will need more pain medicine than the standard dose. We could customize an appropriate dose while the child is still under anesthesia in order to minimize the pain when the child regains consciousness.”

“We have identified a novel biological pain target, and even though the variants we identified in this study explain only about 8 percent of the difference in pain sensation between individuals, they give us a strong lead in developing new therapies,” said Hakonarson. “This proof-of-concept study may advance the process of individualizing pain therapy in children.”

Permanent link to this article: http://www.research.chop.edu/blog/chop-researchers-discover-postsurgical-pain-gene-variants/

Jul 10 2014

Electrocardiogram Use Varies for Infants With ALTEs

ElectrocardiogramWhen frantic parents arrive at the emergency room and report that their infant experienced a frightening combination of symptoms including a prolonged lapse in breathing, change in color or muscle tone, or coughing or gagging, clinicians likely will describe the episode as an apparent life-threatening event (ALTE). Yet, it can be a frustrating conclusion because often these symptoms have resolved by the time the patient arrives at the ER, and the clinician is left to discern the exact cause.

The most common underlying diagnoses related to ALTEs are gastroesophageal reflux and upper respiratory illness. Clinicians also consider cardiac causes, but no standardized method is used to evaluate patients with ALTEs, especially with regard to electrocardiograms (ECGs) as a diagnostic tool. An ECG measures a heart’s electrical activity and generates a graphic representation, or tracing, that can indicate heart-related conditions.

A study team of physicians from The Children’s Hospital of Philadelphia’s Department of Pediatrics and Cardiac Center wanted to determine the prevalence of cardiac diagnoses in children who present with ALTEs and how often ECGs are used.

“This is the largest study of its kind and the first multicenter study looking into the evaluation of cardiac etiologies of ALTEs,” said Matthew D. Elias, MD, a CHOP pediatric cardiology fellow physician. “Hopefully it will contribute to the knowledge base of those providing for patients with ALTEs of what their institutions are using as a diagnostic workup for these patients and what other institutions are doing.”

Dr. Elias conducted the study with V. Ramesh Iyer, MD, MRCP, an attending electrophysiologist, and Meryl S. Cohen, MD, an attending cardiologist and director of the echocardiography laboratory. They reported their findings in the April issue of Pediatric Emergency Care.

The study team analyzed data from the Pediatric Health Information System database and found that ALTEs are relatively common, accounting for 2,179 hospital encounters at 43 children’s hospitals during a 15-month period from 2009 until 2010. Their analysis showed that 16 percent of these patients (355) had a cardiac diagnosis; however, due to the database’s limitations, the study team could not determine that cardiac pathology was related to the ALTEs.

The study’s main finding was that the hospitals had a wide range in the use of diagnostic ECGs, which highlights the absence of a systematic approach to ALTEs.

“Some hospitals almost never ordered an ECG, and others almost 100 percent of the time ordered an ECG,” Dr. Elias said. “On average, ECGs were ordered 43 percent of the time.”

When the study team looked deeper into the demographic information to determine any reasons why some patients with ALTEs would receive an ECG and some would not, the one statistically significant finding was that those patients who were older at presentation were more likely to have an ECG ordered.

“ALTEs typically present within the first three months of life, and if a patient were to present later on at several months of age, we think that those providing for the patients might expand their differential diagnosis and start suspecting a possibility of a cardiac disease,” Dr. Elias said.

This study raises a larger question for future research of whether or not ECGs could be helpful as a screening tool to detect or rule out particular cardiac diagnoses for patients with ALTEs.

Permanent link to this article: http://www.research.chop.edu/blog/electrocardiogram-use-varies-infants-altes/

Jul 08 2014

60 Minutes Revisits Cancer Therapy Pioneered at CHOP

curing cancerAustralia’s 60 Minutes recently revisited its story from last year about the revolutionary immune therapy treatment spearheaded by The Children’s Hospital of Philadelphia’s Stephan A. Grupp, MD, PhD. The therapy, in which modified versions of patients’ own immune cells are used to treat acute lymphoblastic leukemia (ALL) has led to dramatic, inspirational results, with several patients achieving complete responses.

“It could be one of the greatest medical breakthroughs of the 21st century: a cure for childhood cancer,” said host Michael Usher.

The most common form of leukemia found in children, ALL has a roughly 85 percent cure rate. However, the remaining 15 percent of ALL cases resist standard therapy. The 60 Minutes piece focused on the researchers’ use of HIV, which the program called “one of the most notorious killers of our time,” to treat ALL. Dr. Grupp and his team have used HIV to deliver engineered T cells — the workhorses of the immune system — to selectively kill another type of immune cell called B cells, which had become cancerous.

HIV “is a terrible virus,” Dr. Grupp said, “but there’s a good property, and the good property of the virus is its ability to put a gene into cells. We isolate just that property and we get rid of all of the bad stuff, so yes, HIV’s been retasked to do good in this kind of treatment.”

The piece is also focused on one of Dr. Grupp’s patients, 5-year-old Austin, whom 60 Minutes profiled in its original piece. Diagnosed with ALL when he was 2, Austin is now in complete remission for the first time. “To see him doing normal things is a relief, and a dream come true, because those were things that were put on hold for awhile,” said Austin’s mother Kim, who called the treatment “a miracle.”

“I think we do have a potential new treatment that didn’t exist before that we hope will be available to other patients and other hospitals soon, and across the world, in the next year or two,” Dr. Grupp said.

To watch the 60 Minutes report, see below!

Permanent link to this article: http://www.research.chop.edu/blog/60-minutes-revisits-cancer-therapy-pioneered-chop/

Jul 07 2014

PolicyLab Reports on Students Involved With Child Welfare

child welfare

“Improving outcomes for these students starts with identifying and deploying the appropriate resources that these schools need to support all students,” Dr. Rubin stated.

Educators and policymakers in Philadelphia knew that meeting the complex needs of the most vulnerable students in struggling public schools was a big challenge, but they did not know exactly how big. So they turned to PolicyLab at The Children’s Hospital of Philadelphia to do the math.

A report released in June by PolicyLab revealed that 17 percent of all Philadelphia public school students have been involved with the child welfare or juvenile justice systems, and it described the educational barriers that these students face.

“This report illustrates the magnitude of youth in our school district who have been involved with the child welfare system — 20 percent by the high school years, and for many schools more than a third of their student body,” stated David Rubin, MD, MSCE, co-director of PolicyLab, in a news release.

The analysis showed that students who had interaction with the Philadelphia Department of Human Services (DHS) had poor academic outcomes, were less likely to be promoted to the next grade on time, earned fewer credits during the year, had lower scores on standardized assessment tests, were more likely to receive special education services, and were absent more days from school.

The report — “Supporting the Needs of Students Involved With the Child Welfare and Juvenile Justice System in the School District of Philadelphia” — was commissioned by the Mayor’s Office of Education, School District of Philadelphia (SDP), Philadelphia School Reform Commission, and DHS to help inform policy decisions to align resources to best meet the needs of the diverse student population across the SDP. PolicyLab collected and analyzed data in a targeted cross-system review of students in the third, seventh, ninth, and twelfth grades from the 2011-2012 academic year across all schools within the SDP.

In addition to determining that a substantial percentage of the school population had involvement with DHS, the report also found that these students tend to cluster in certain school types. Within these struggling schools, the report noted, performance was poor even for those students without DHS involvement, demonstrating the need to transform all students’ educational experience in these difficult environments.

“Improving outcomes for these students starts with identifying and deploying the appropriate resources that these schools need to support all students,” Dr. Rubin stated.

At a press conference announcing the report’s key findings, DHS Commissioner Anne Marie Ambrose announced an action plan that will include stationing 27 social workers as educational liaisons in public schools with high concentrations of DHS-served youth to help support their learning needs in the 2014-2015 school year. But the report’s partners admitted that they alone cannot address all of the challenges that PolicyLab uncovered.

“This can only be one part of the solution,” wrote the project’s director, Sophia Hwang, MSED, in a PolicyLab blog. “In order for our most at-risk students to achieve academically, they also need safe school environments, appropriate behavioral health services, and caring and supportive mentors.”

As a former SDP high school science teacher, Hwang brought a unique perspective to the report. She recalled not knowing to what extent the approximately 160 students who she taught every day were touched by the child welfare or juvenile justice system. Based on the report’s data, she estimates it is likely that one in every three students on her roster was involved with DHS in some way.

“Now, as a researcher, I ask myself, ‘What supports did my children deserve? What resources would have helped me as their teacher?’” Hwang wrote.

With data from this new report in hand, those making educational policy decisions in Philadelphia and in large cities throughout the country can address those questions more strategically.

“I hope that our report will inspire conversations in other urban school districts about the resources and supports needed for students in their communities,” Hwang wrote.

For more information and to view the full report, please visit Sophia Hwang’s blog post on PolicyLab’s website

Permanent link to this article: http://www.research.chop.edu/blog/policylab-reports-students-involved-child-welfare/

Jul 03 2014

Researchers Examine Goal Pursuit in Teens with Cancer

cancerSetting and achieving goals is a significant milestone in adolescent and young adults’ (AYA) development that paves the way for independence in adulthood. Teens with cancer often experience fatigue, pain, and other symptoms that can interfere with these personal goals, which psychologists refer to as health-related hindrance (HRH).

Researchers at the Center for Childhood Cancer Research at The Children’s Hospital of Philadelphia are interested in identifying those most at risk for higher HRH because it is a potential marker of poor psychological adjustment during cancer treatment and into survivorship.  One of their studies that appeared in the March issue of the Journal of Clinical Psychology in Medical Settings focused on the interaction between race, ethnicity, and income in predicting HRH.

“This is one of the first studies to look at the psychosocial components of lower income and ethnic minority status on quality of life outcomes,” said Lauren C. Daniel, PhD, a psychology fellow in the division of oncology at CHOP.

Ninety-four study participants between the ages of 13 and 19 were categorized into four groups: lower income minority status, higher income minority status, lower income white, and higher income white. On average, it was 1.65 years since their initial diagnosis, and the majority had received chemotherapy.

The study participants wrote down up to 10 personally meaningful goals. Some examples included spending more time with friends and getting into a good college. Participants rated the difficulty and importance of the goal as well as the impact of pain, fatigue, and other symptoms on achieving each goal.

The research team examined differences in goal-related variables across the four groups, and their findings were not what they had anticipated. Based on previous research on health care disparities, they had hypothesized that adolescents with cancer of minority status living in lower income families would experience the highest amount of HRH. The results showed the opposite: Lower income minority patients had the least amount of HRH, while high income minority patients had the most.

“It may be that higher income minority families are in schools with higher expectations so patients may be more aware of the impediments that cancer poses,” Dr. Daniel said.

On the flip said, the researchers suggested that those adolescents with cancer in the lower income minority groups may rely on a “shift and persist” adaptive coping style that increases their resilience and persistence toward valued goals.

“This study highlights that goal setting may be different across patient populations,” Dr. Daniel said. “Their goals also might be different than what clinicians are expecting. So it’s important for them to talk with patients about things that they want to achieve, especially understanding how fatigue, pain, and symptoms impact their goals.”

During these conversations, clinicians can work with AYA to set realistic goals in the context of cancer to help motivate them to look toward the future. They also can connect them with organizations that offer information and support or scholarships and financial aid. At CHOP, many unique resources are available for AYA who are on and off treatment.

A larger scale study across multiple centers is needed to fully understand these preliminary findings and further explore the impact of sociodemographic factors on HRH.

“We’re hoping to work toward implementing interventions to improve health-related hindrance as an important part of quality of life of AYA with cancer,” Dr. Daniel said.

This study was part of a larger study on developmental outcomes of AYA with cancer by Lisa A. Schwartz, PhD, assistant professor of clinical psychology in pediatrics at CHOP and the psychologist for the Cancer Survivorship Program. Lamia P. Barakat, PhD, a CHOP psychologist, and Lauren D. Brumley, also contributed to the study.

Permanent link to this article: http://www.research.chop.edu/blog/researchers-examine-goal-pursuit-teens-cancer/

Jul 01 2014

Biomarkers for Mitochondrial Diseases Emerging

mitochondrial diseaseA major limitation in many therapeutic interventions is the inability to follow how they affect the early biochemical steps of chronic disease. In some cases, patients and clinicians spend months tracking symptoms to figure out if a treatment is working.

A new approach being developed at The Children’s Hospital of Philadelphia and the University of Pennsylvania could allow investigators to know within days if a chosen therapy reverses the intracellular mechanisms that go awry in Friedreich’s Ataxia (FA), a genetic mitochondrial disease, and other more common secondary mitochondrial disorders such as Parkinson’s disease and Alzheimer’s.

FA is a rare, progressive neurodegenerative disease that is heavily disabling because it affects a variety of body systems. People diagnosed with FA experience general unsteadiness, motor speech problems, increased heart wall thickness, and a higher tendency to develop diabetes over time. Most people with FA are wheelchair bound within 10 years of their symptoms’ initial presentation and die from heart disease by the age of 35.

CHOP clinicians and researchers have developed remarkable expertise in FA, and they help about 250 patients, which is approximately 5 percent of the population with this disease in the U.S.  Earlier this year, a new Penn Medicine/CHOP Friedreich’s Ataxia Center of Excellence opened to carry on this work under the direction of Robert B. Wilson, MD, PhD, professor of pathology and laboratory medicine at the Perelman School of Medicine, and David Lynch, MD, PhD, FA program director at CHOP.

“We are the center for research on FA for the world,” Dr. Lynch said.

One of the center’s first goals was to establish a biomarker development program with the expertise of Ian Blair, PhD, of the Perelman School of Medicine. This collaboration is the focus of a new National Institute of Neurological Disorders and Stroke grant awarded to Dr. Lynch.

“A unique aspect of this grant is our chance to partner on a technique that not only may be useful for understanding the mitochondrial abnormalities that are proposed in FA, but also for monitoring it and related diseases in clinical trials,” Dr. Lynch said. “So it may be crucial for developing new therapies for individuals, but it also is likely to be a key tool in defining the ability of people with FA to respond to such interventions.”

Dr. Blair has discovered a way using mass spectrometry techniques — a highly accurate, quantitative method for exploring compounds — to follow the metabolic events of live behaving mitochondria isolated from platelets of a person with FA. Mitochondria, traditionally known as the powerhouses of cells, are specialized to perform specific functions within tissues. The investigators suspect that the metabolic functions of mitochondria might be crucially compromised in FA, leading to tissue-selective metabolic dysfunction.

“We know that the disease affects the whole body, so what we see happening in platelets is likely to be a mirror of what’s happening everywhere,” Dr. Lynch said.

One of the places where his study team has seen abnormalities is in the Krebs cycle, also known as the tricarboxylic acid cycle, which produces adenosine triphosphate (ATP) that transports chemical energy within cells for metabolism. ATP feeds electrons on the electron transport chain for cells to make more ATP. The investigators suggest that insufficient bioenergetic capacity may lead to decreased metabolism through fatty acid pathways.

“We find that in FA there are specific blockages in this pathway,” Dr. Lynch explained. “This might suggest therapy because it would allow you to bypass those blockages if you gave people the right nutritional supplementation and ameliorate, if not cure, the features of the disease.”

In principle, this approach could be applicable to any mitochondrial disease, Dr. Lynch said, not only on the therapeutic side to identify which metabolic steps to circumvent, but also on the monitoring and biomarker side to measure response to a therapeutic agent. If an intervention works, scientists would expect the metabolic abnormalities that Dr. Blair identified to reverse.

“It provides a powerful way to follow the disease and an ideal biomarker of therapeutic success,” Dr. Lynch said. “This is potentially a way that we could follow many, many disorders.”

In the near future, Dr. Lynch anticipates his study team’s early successes will spin off into investigations of novel nutritional therapies for FA and also be used as an outcomes measure in ongoing clinical trials of FA.

Permanent link to this article: http://www.research.chop.edu/blog/biomarkers-mitochondrial-diseases-emerging/

Jun 30 2014

CHOP Neuroscientist Receives Prestigious NIH Award

NIHThe Children’s Hospital of Philadelphia’s Akiva S. Cohen, PhD, recently received a prestigious MERIT award from the National Institutes of Health. A concussion and traumatic brain injury (TBI) expert, Dr. Cohen has been investigating using an amino acid-based dietary therapy to mitigate TBIs’ long-term effects.

The NIH’s R37 or Method to Extend Research in Time (MERIT) award is designed “to provide long-term grant support to investigators whose research competence and productivity are distinctly superior and who are highly likely to continue to perform in an outstanding manner,” according to the NIH’s site. MERIT awardees are chosen by NIH staff and a review board, who make their recommendations based on researchers’ past successes and productivity.

With this award, Dr. Cohen joins an exclusive group of CHOP investigators who have received MERIT awards (including the National Institute of Neurological Disorders and Stroke’s R37, the Javits Neuroscience Investigator Award). Currently, only two other Children’s Hospital researchers have active MERIT awards — hematologist Gerd A. Blobel, PhD, and hyperinsulinism expert Charles Stanley, MD — while several other investigators, including Tom Curran, PhD, FRS, and Douglas A. Coulter, PhD, have received MERIT/Javits support in the past.

Dr. Cohen’s work is focused on the cellular and molecular mechanisms underlying pathologies caused by head injuries. In particular, Dr. Cohen has been studying using a “cocktail” of cellular nutrients to address brain damage associated with TBIs. According to the CDC, roughly 2 million TBIs occur every year in the U.S, and more than 500,000 TBIs are suffered by children aged 14 years and younger. While many reported TBIs are milder forms such as concussions, even “mild” brain injuries can lead to long-term health challenges, such as cognitive and emotional issues.

Late last year, Dr. Cohen led a study published in Science Translational Medicine that found the dietary therapy improved sleep disturbances caused by brain injuries in mice. “If this type of dietary treatment is proved to help patients recover function after traumatic brain injury, it could become an important public health benefit,” Dr. Cohen said at the time.

In addition to his MERIT award, Dr. Cohen was also recently invited to serve as a standing member of the NIH’s Center for Scientific Review’s Brain Injury and Neurovascular Pathologies (BINP) Study Section. During his two years on the BINP Study Section, alongside a number of other experts Dr. Cohen will review grant applications submitted to the NIH “aimed to understanding mechanisms of neural injury, related vascular abnormalities, and alterations in the blood brain barrier in stroke,” among other topics.

“I am honored and humbled to be nominated and receive a MERIT award,” said Dr. Cohen. “And I am driven even more to determine the alterations in brain function that contribute to cognitive impairment caused by brain injury.”

To read more about Dr. Cohen’s work, see Bench to Bedside and the CHOP Research blog.

Permanent link to this article: http://www.research.chop.edu/blog/chop-neuroscientist-receives-prestigious-nih-award/

Jun 27 2014

CHOP Announces Fetal Neuroprotection Program

Fetal Neuroprotection Program_2The Children’s Hospital of Philadelphia launched the Fetal Neuroprotection and Neuroplasticity Program which builds onto already growing evidence of the interaction of heart disease and brain development in the fetus. This program will systematically investigate innovative therapies to protect brain development and to prevent brain injury as early as possible before birth.

A joint project of the hospital’s Cardiac Center, the Fetal Heart Program, the Center for Fetal Diagnosis and Treatment, and the Division of Neurology, it is the first-ever comprehensive program dedicated to prenatal neuroprotection. While this program initially will focus on the fetus with congenital heart disease (CHD), it will expand in the future to include fetuses with other birth defects, such as congenital diaphragmatic hernia and pulmonary hypoplasia.

In the U.S., approximately one in every 120 newborns is diagnosed with CHD, making it the most common birth defect. Many newborns with CHD require either corrective or palliative open-heart surgery. As recently as the 1960s, only 20 percent of newborns with critical CHD survived to adulthood.

“Today, thanks to better diagnostic technologies and methods, including prenatal diagnosis, advances in surgery, and improved postoperative care, early survival is over 90 percent,” said J. William Gaynor, MD, cardiac surgeon and director of the Fetal Neuroprotection and Neuroplasticity Program. “However, with improved early outcomes has come the sobering recognition that there is an ongoing risk of late mortality as well as significant morbidity for these children. Indeed, neurodevelopmental disability is now recognized as the most common complication of critical CHD – those patients requiring cardiac surgery in infancy – and has the most negative impact on quality of life, academic performance, and opportunity for independence as an adult.”

Convincing evidence suggests that in order to prevent brain injury and improve outcomes, treatment to protect the brain must be initiated before birth. This research, much of it developed at CHOP, shows that in utero brain development is abnormal in fetuses with CHD, leading to delayed maturation, poor growth, and white matter injury.

“The lifetime continuum of care for congenital heart disease starts in utero,” said N. Scott Adzick, MD, surgeon-in-chief at CHOP.  “We now have an opportunity to not only offer the best diagnostic care to the fetus with heart disease, but to also begin to explore ways in which we can optimize long-term outcomes from the neurocognitive perspective.”

The focus of the new program will be to investigate the factors that cause abnormal brain development in the fetus with a congenital heart defect and to conduct clinical trials of fetal interventions to determine whether novel prenatal treatments can reduce brain injury and improve neurodevelopmental outcomes in newborns with CHD who subsequently undergo cardiac surgery. The first such study will evaluate whether the hormone progesterone, administered prenatally to the mother, has a neuroprotective effect on brain development.

The Children’s Hospital of Philadelphia has long been a leader in pediatric cardiac care. More than 30 years ago, CHOP pioneered life-saving early surgeries for children with complex heart defects. Today, most forms of heart disease can be detected prior to birth.

“The Fetal Neuroprotection and Neuroplasticity Program is another innovative initiative in a long series of identifying opportunities to ensure that children with CHD not only survive, but truly thrive, as they grow into adulthood,” Dr. Gaynor said. “This program allows us to enhance our continuum of care from conception through adulthood.”

For more information, please visit The Children’s Hospital of Philadelphia’s Fetal Neuroprotection and Neuroplasticity Program.

Permanent link to this article: http://www.research.chop.edu/blog/chop-announces-fetal-neuroprotection-program/

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