Alison Chu

The nonimpact of gestational age on neurodevelopmental outcome for ventilated survivors born at 23-28 weeks of gestation.

Aim:  It has long been known that survival of preterm infants strongly depends upon birth weight and gestational age. This study addresses a different question – whether the gestational maturity improves neurodevelopmental outcomes for ventilated infants born at 23–28 weeks who survive to neonatal intensive care unit (NICU) discharge.

The emerging genetic landscape underlying cardiac conduction system function

Proper function of an organized Cardiac Conduction System (CCS) is vital to the survival of metazoans ranging from fly to man. The routine use of non-invasive electrocardiogram measures in the diagnosis and monitoring of cardiovascular health has established a trove of reliable CCS functional data in both normal and diseased cardiac states. Recent combination of echocardiogram (ECG) data with genome-wide association studies has identified genomic regions implicated in ECG variability which impact CCS function. In this study, we review the substantial recent progress in this area, highlighting the identification of novel loci, confirming the importance of previously implicated loci in CCS function, and exploring potential links between genes with important roles in developmental processes and variation in function of the CCS.

Necrotizing Enterocolitis in the Full-Term Infant.

Necrotizing enterocolitis in full-term infants is relatively rare. When seen, it is usually associated with perinatal asphyxia, sepsis, or specific forms of congenital heart disease. It can also be associated with endocrinopathies. In this review, a full-term infant was found to have necrotizing enterocolitis and persistent hypoglycemia. Evaluation for hypoglycemia revealed pan-hypopituitarism, and magnetic resonance imaging confirmed this diagnosis. Timely evaluation and early initiation of hormone replacement therapy is essential to minimize long-term morbidities and mortality associated with pan-hypopituitarism.

Apparent Life-Threatening Events in Infancy

Apreviously healthy 5-weekold boy who was born at term is brought to the emergency department. His mother reports that she had placed him on his side with a support pillow after breast-feeding him before she went to take a shower. Upon returning to check on him, she found him in prone position, with his nose and mouth in the mattress, “struggling” to breathe; his face was red. The mother thought he looked “sleepy.” She picked him up, noting his tone was somewhat decreased; she ran his head under cold water with an increase in respiration but he still seemed sleepy. The mother watched him for an hour and breast-fed him. After discussing it with her son’s pediatrician, she brought him to the emergency department (ED). The infant’s medical history is signifi cant for noisy breathing (inspiratory and expiratory stridor) at 3 weeks of age. At that time, he was seen by his pediatrician and by ear, nose and throat (ENT) specialists who diagnosed him with mild laryngomalacia. On exam, he is well-appearing, well-perfused, pink, and in no acute distress. Vital signs are all within normal range. He has mild nasal sounds transmitted to the chest, and mild intermittent inspiratory and expiratory stridor when supine and occasionally

The Perinatal Origins of Cardiovascular Disease

In recent decades, with advances in neonatal intensive care, extremely premature infants are now surviving into adulthood. Epidemiologic data on the health of these ex-premature infants have begun to reveal a concerning motif-that is, prematurity, in and of itself, seems to be a risk factor for cardiovascular and metabolic disease in later adulthood. The mechanisms underlying this increased risk are unclear, but it is believed that both adverse fetal environment and postnatal exposures for a premature infant likely contribute to the developmental programming of disease by altering the normal trajectory of maturation and aging of multiple organ systems. This article specifically focuses on perinatal factors that may affect risk for cardiovascular disease.

Neonatology: A Variety of Presentations, Diagnoses, and Treatments

One of the most wonderful things about neonatology is that even though it is considered a “pediatric specialty,” clinical care of the neonate allows us as health care practitioners to consider so many different organ systems and medical issues in the context of a complex whole. Neonatology is really about the variety; although there are certainly recurring themes and familiar motifs, every single baby is different and requires individualized consideration. This issue of Pediatric Annals is an ode to the “spice” of neonatology—the variety of organ systems, diagnoses, and presentations that make up clinical neonatal care. We present five articles written by a spectrum of clinicians who provide neonatal care—from pediatric fellows to neonatologists to seasoned specialists. The first article, “Breast-Feeding Friendly, but Not Formula Averse,” by Dr. Juanita Lewis addresses one of the most common problems facing the mother-neonate dyad: difficulty establishing breast-feeding. In this review, she presents an unusual illustrative case in which failure to establish effective breast-feeding led to a severely ill neonate. She uses this case to review the normal course of breast-feeding, when successful, as well as risk factors for difficulty in establishing breastfeeding, and the potentially dangerous sequelae that can ensue. The second article, “Congenital Hyperinsulinism,” by Dr. Elena Minakova and myself presents another common problem in the neonate: hypoglycemia (but now with a very unusual and rare diagnosis). We review the genetic and pathophysiologic mechanisms of disease in this diagnosis, which beautifully tie into the rationale behind clinical management in these affected neonates. In the next article, “Hot Topics in Retinopathy of Prematurity,” Dr. Irena Tsui, a pediatric ophthalmologist, and myself present an interesting review on the state of retinopathy of prematurity (ROP), with a focus on new developments. We discuss the changing incidence of ROP worldwide, the use of predictive algorithms for screening ROP, the efficacy of antivascular endothelial growth factor treatments, as well as developments in advanced retinal imaging. Then, in the article “Prenatal and Postnatal Genetic Testing: Why, How, and When?,” Dr. Joan M. Stoler presents a comprehensive and useful review on perinatal genetic testing. In a field that is rapidly developing in terms of new technology, it is imperative for pediatricians to understand both the utility and limitations of prenatal and postnatal genetic testing. In the last article, “Zika Virus: A Review for Pediatricians,” Drs. Taylor Heald-Sargent and William Muller provide a timely update on the state of congenital Zika virus. Although media attention has waned, the Zika virus remains an important infectious disease and condition that affects the neonatal population both in the United States and abroad. As neonatologists, we do not provide care for babies in isolation; we care for their families, and we care for their future as an older child and even as an adult. This is a baton that is passed on to the general pediatrician after neonatal intensive care unit (NICU) discharge. Therefore, these articles will be pertinent not only to a neonatologist, but also to the general pediatrician who takes care of these infants after NICU discharge, with a focus on the long-term implications of these various health issues.

Early Childhood Exposures and Risk for Adult Disease.

As pediatricians, we are given the responsibility to not only care for our patients in the present, but also to protect their future health. Wellchild visits present the opportunity to optimize adult outcomes in several ways: to provide anticipatory guidance in topics of safety, nutrition, and lifestyle choices; to evaluate and promote healthy emotional and social development; and to provide immunizations to protect against future disease. Subspecialists also carry the responsibility as we must weigh the potential benefits and risks of diagnostic testing and therapeutic options. In caring for our patients, it is essential for pediatricians to educate ourselves on the rapidly accumulating evidence that early childhood exposures affect risk for future disease. Early childhood exposures that may affect risk of disease range from essential life-saving therapies, such as mechanical ventilation in an extremely premature infant, to antibiotic exposure for presumed otitis media. It is clear that in this day and age, where the Internet has made it easier for parents to arm themselves with information, and sometimes misinformation, we need to educate ourselves on the potential risks of any intervention we suggest. There is a rapidly growing body of evidence that suggests that the human body maintains a fragile balance, and that while we are amazingly adaptive in our ability to maintain the outward appearance of good health, the invisible effects of seemingly innocent exposures may be at work contributing to the development of chronic disease. Our goal for this issue of Pediatric Annals is to introduce some of the recent research that highlights the notion of developmental programming—as early childhood is a vulnerable period in which the body’s organs are still developing and susceptible to environmental exposures, and how these exposures may translate into risk for adult disease. The article by Dr. Theodore De Beritto and me highlights perinatal exposures that may increase risk for cardiovascular disease for premature or small for gestational age birth weight infants. We also briefly explore some of the proposed mechanisms for this association. Dr. Kalpashri Kesavan’s article is a thought-provoking review of early exposures to sedative and analgesic medications commonly used in the neonatal and pediatric intensive care unit and risk for adverse neurodevelopmental outcomes. Drs. Sushmita G. Yallapragada, Colleen B. Nash, and Daniel T. Robinson present a comprehensive overview on the development of the microbiome, the adverse effects that antibiotic exposure has on the microbiome, and how this may contribute to risk for obesity and metabolic disease. Lastly, Drs. Vivian Y. Chang and Tom B. Davidson contribute an excellent piece on various early childhood exposures that are known risk factors for the development of malignancy, providing the pediatric practitioner with clinically relevant information on how to educate families to minimize these exposures. This compilation is our attempt to educate pediatricians across multiple specialties within the community and the academic setting with the evidence that exposures during childhood have implications for long-term health outcomes. As health care providers, we should continue to carefully weigh the risks and benefits of diagnostic testing and treatment options, and to educate our patients and their families on the long-term risks of various exposures as well.

What do you tell the family who asks, ‘What went wrong?’ The truth and nothing but the truth

What do you tell the family who asks, ‘What went wrong?’ The truth and nothing but the truth