PEDIATRICS recent issues

Initial Oxygen Use for Preterm Newborn Resuscitation: A Systematic Review With Meta-analysis

CONTEXT:

The International Liaison Committee on Resuscitation prioritized to review the initial fraction of inspired oxygen (Fio2) during the resuscitation of preterm newborns.

OBJECTIVES:

This systematic review and meta-analysis provides the scientific summary of initial Fio2 in preterm newborns (<35 weeks’ gestation) who receive respiratory support at birth.

DATA SOURCES:

Medline, Embase, Evidence-Based Medicine Reviews, and Cumulative Index to Nursing and Allied Health Literature were searched between January 1, 1980 and August 10, 2018.

STUDY SELECTION:

Studies were selected by pairs of independent reviewers in 2 stages with a Cohen’s of 0.8 and 1.0.

DATA EXTRACTION:

Pairs of independent reviewers extracted data, appraised the risk of bias (RoB), and assessed Grading of Recommendations Assessment, Development and Evaluation certainty.

RESULTS:

Ten randomized controlled studies and 4 cohort studies included 5697 patients. There are no statistically significant benefits of or harms from starting with lower compared with higher Fio2 in short-term mortality (n = 968; risk ratio = 0.83 [95% confidence interval 0.50 to 1.37]), long-term mortality, neurodevelopmental impairment, or other key preterm morbidities. A sensitivity analysis in which 1 study with a high RoB was excluded failed to reveal a reduction in mortality with initial low Fio2 (n = 681; risk ratio = 0.63 [95% confidence interval 0.38 to 1.03]).

LIMITATIONS:

The Grading of Recommendations Assessment, Development and Evaluation certainty of evidence was very low for all outcomes due to RoB, inconsistency, and imprecision.

CONCLUSIONS:

The ideal initial Fio2 for preterm newborns is still unknown, although the majority of newborns ≤32 weeks’ gestation will require oxygen supplementation.

A 6-Year-Old Child With Citrin Deficiency and Advanced Hepatocellular Carcinoma

We report the case of a 6-year-old boy with citrin deficiency and advanced hepatocellular carcinoma diagnosed by using imaging. He exhibited intrahepatic cholestasis 2 days after his birth and was misdiagnosed with inspissated bile syndrome at that time. The symptoms of jaundice spontaneously resolved when he was 5 months old. However, his transaminase levels remained elevated for ~6 years, for which he received no treatment. He preferred a high-protein, high-fat, low-carbohydrate diet, which has been observed in many patients with citrin deficiency, but no clinical features of adult-onset type II citrullinemia were observed. At the age of 6 years, he was admitted to our hospital with a nonviral infection and high α-fetoprotein level; results from an abdominal MRI and computed tomography revealed multiple tumors in the liver. Because of his history of intrahepatic cholestasis in the neonatal period, he was suspected to have citrin deficiency. A genetic analysis of solute carrier family 25, member 13 revealed the presence of a homozygous 851del4 mutation, and a diagnosis of citrin deficiency was made. The patient did not qualify for liver transplantation and died 2 months later, after discharge from our hospital. Thus, this case reveals that not all patients with neonatal intrahepatic cholestasis spontaneously and totally improve, and this case is used to emphasize that patients with neonatal intrahepatic cholestasis should be managed carefully, especially in the stage of failure to thrive and dyslipidemia caused by citrin deficiency, which may lead to advanced hepatocellular carcinoma.

Home Health Care Availability and Discharge Delays in Children With Medical Complexity

BACKGROUND:

An increasing proportion of pediatric hospital days are attributed to technology-dependent children. The impact that a pediatric home care nursing (HCN) shortage has on increasing length of hospital stay and readmissions in this population is not well documented.

METHODS:

We conducted a 12-month multisite prospective study of children with medical complexity discharging with home health. We studied the following 2 cohorts: new patients discharging for the first time to home nursing and existing patients discharging from the hospital to previously established home nursing. A modified delay tool was used to categorize causes, delayed discharge (DD) days, and unplanned 90-day readmissions.

RESULTS:

DD occurred in 68.5% of 54 new patients and 9.2% of 131 existing patients. Lack of HCN was the most frequent cause of DD, increasing costs and directly accounting for an average length of stay increase of 53.9 days (range: 4–204) and 35.7 days (3–63) for new and existing patients, respectively. Of 1582 DDs, 1454 (91.9%) were directly attributed to lack of HCN availability. DD was associated with younger age and tracheostomy. Unplanned 90-day readmissions were due to medical setbacks (96.7% of cases) and occurred in 53.7% and 45.0% of new and existing patients, respectively.

CONCLUSIONS:

DD and related costs are primarily associated with shortage of HCN and predominantly affect patients new to HCN. Medical setbacks are the most common causes of unplanned 90-day readmissions. Increasing the availability of home care nurses or postacute care facilities could reduce costly hospital length of stay.

Work Experiences and Satisfaction of International Medical School Graduates

OBJECTIVES:

We compared demographics and work, financial, and satisfaction experiences of early-career and midcareer pediatricians categorized by their childhood and medical school locations.

METHODS:

Data from the Pediatrician Life and Career Experience Study were used to examine the characteristics and experiences of 3 groups, which were categorized as (1) international childhood and medical school graduate (international-IMG), (2) United States childhood and international medical school graduate (US-IMG), and (3) United States or international childhood and United States medical school graduate (USMG). With multivariable logistic regression, we examined the experiences of the groups, controlling for participant characteristics.

RESULTS:

Data from 1467 of 1804 participants were analyzed; 13% were categorized as international-IMGs, 6% were categorized as US-IMGs, and 81% were categorized as USMGs. International-IMGs and US-IMGs were less likely than USMGs to report their race and ethnicity as white and non-Hispanic (26%, 32%, and 71%, respectively; P < .05) and more likely to report caring for patients with public insurance (adjusted odds ratio [aOR] 1.80 [95% confidence interval (CI) 1.27–2.56] and aOR 2.12 [95% CI 1.31–3.42], respectively). International-IMGs were less likely than USMGs to agree that physician colleagues value their work (aOR 0.35; 95% CI 0.21–0.56). Overall, 8 in 10 reported that their work was personally rewarding; international-IMGs were less likely than USMGs to report such satisfaction (P < .05).

CONCLUSIONS:

Among a national sample of pediatricians, international-IMGs and US-IMGs play important roles in workforce diversity. They also report unique challenges. Most are satisfied with their work, but international-IMGs are the least satisfied.

Meningococcal Disease Among College-Aged Young Adults: 2014-2016

BACKGROUND:

Freshman college students living in residence halls have previously been identified as being at an increased risk for meningococcal disease. In this evaluation, we assess the incidence and characteristics of meningococcal disease in college-aged young adults in the United States.

METHODS:

The incidence and relative risk (RR) of meningococcal disease among college students compared with noncollege students aged 18 to 24 years during 2014–2016 were calculated by using data from the National Notifiable Diseases Surveillance System and enhanced meningococcal disease surveillance. Differences in demographic characteristics and clinical features of meningococcal disease cases were assessed. Available meningococcal isolates were characterized by using slide agglutination, polymerase chain reaction, and whole genome sequencing.

RESULTS:

From 2014 to 2016, 166 cases of meningococcal disease occurred in persons aged 18 to 24 years, with an average annual incidence of 0.17 cases per 100 000 population. Six serogroup B outbreaks were identified on college campuses, accounting for 31.7% of serogroup B cases in college students during this period. The RR of serogroup B meningococcal (MenB) disease in college students versus noncollege students was 3.54 (95% confidence interval: 2.21–5.41), and the RR of serogroups C, W, and Y combined was 0.56 (95% confidence interval: 0.27–1.14). The most common serogroup B clonal complexes identified were CC32/ET-5 and CC41/44 lineage 3.

CONCLUSIONS:

Although the incidence is low, among 18- to 24-year-olds, college students are at an increased risk for sporadic and outbreak-associated MenB disease. Providers, college students, and parents should be aware of the availability of MenB vaccines.

Instruments to Measure Outcomes in Pediatric Palliative Care: A Systematic Review

CONTEXT:

Pediatric palliative care (PPC) is intended to promote children’s quality of life by using a family-centered approach. However, the measurement of this multidimensional outcome remains challenging.

OBJECTIVE:

To review the instruments used to assess the impact of PPC interventions.

DATA SOURCES:

Five databases (Embase, Scopus, The Cochrane Library, PsychInfo, Medline) were searched.

STUDY SELECTION:

Inclusion criteria were as follows: definition of PPC used; patients aged 0 to 18 years; diseases listed in the directory of life-limiting diseases; results based on empirical data; and combined descriptions of a PPC intervention, its outcomes, and a measurement instrument.

DATA EXTRACTION:

Full-text articles were assessed and data were extracted by 2 independent researchers, and each discrepancy was resolved through consensus. The quality of the studies was assessed by using the Standard Quality Assessment Criteria for Evaluating Primary Research Papers From a Variety of Fields checklist.

RESULTS:

Nineteen of 2150 articles met the eligibility criteria. Researchers in 15 used quantitative methods, and 9 were of moderate quality. Multidimensional outcomes included health-related quality of life, spiritual well-being, satisfaction with care and/or communication, perceived social support, and family involvement in treatment or place-of-care preferences. PPC interventions ranged from home-based to hospital and respite care. Only 15 instruments (of 23 reported) revealed some psychometric properties, and only 5 included patient-reported (child) outcome measures.

LIMITATIONS:

We had no access to the developmental process of the instruments used to present the underlying concepts that were underpinning the constructs.

CONCLUSIONS:

Data on the psychometric properties of instruments used to assess the impact of PPC interventions were scarce. Children are not systematically involved in reporting outcomes.

In-hospital Neonatal Falls: An Unintended Consequence of Efforts to Improve Breastfeeding

In-hospital neonatal falls are increasingly recognized as a postpartum safety risk, with maternal fatigue contributing to these events. Recommendations to support rooming-in may increase success with breastfeeding; however, this practice may also be associated with maternal fatigue. We report a cluster of in-hospital neonatal falls associated with a hospital program to improve breastfeeding, which included rooming-in practices. Metrics related to breastfeeding were prospectively collected by chart audit or patient survey while ongoing efforts to improve breastfeeding occurred (September 2015–August 2017). Falls were identified through the hospital adverse event reporting system from January 2011 to February 2018. Medical records were reviewed to determine factors associated with the falls, including time of event, pain medication administration, hours of life at fall, method of delivery, or other notable factors that may have contributed to the fall event. Three fall events occurred within 1 year of commencing improvement efforts as process and outcome metrics associated with breastfeeding improved. All events were associated with mothers falling asleep while feeding their infant, and all occurred between midnight and 6 am. Falls occurred from 38.0 to 75.7 hours after birth. No sedating pain medications were administered within 4 hours of any event. In 2 of 3 cases, mothers experienced notable ongoing social stressors. Rooming-in was the most significant change involved in our health care delivery during the programmatic effort to improve breastfeeding. Monitoring for in-hospital neonatal falls may be needed during projects aimed at improving breastfeeding, particularly if rooming-in practices are involved.

Developmental Outcomes in Duarte Galactosemia

OBJECTIVES:

For decades, infants with Duarte galactosemia (DG) have been identified by newborn screening (NBS), but whether they should be treated with dietary restrictions of galactose has remained unknown. To clarify, we conducted a study of dietary and developmental outcomes in 206 children with DG (case patients) and 144 controls, all of whom were 6 to 12 years old.

METHODS:

We recruited case patients from states where they were identified by NBS; unaffected siblings served as controls. Diet in infancy was ascertained by retrospective parent surveys; developmental outcomes were assessed in 5 domains, yielding 73 outcome measures for each child. We divided subjects randomly into independent discovery (n = 87) and validation (n = 263) sets. We tested the discovery set to order the 73 outcome measures by ascending P values and tested the 10 outcomes with the lowest P values for possible association with DG in the validation set. We also tested these same 10 outcomes for possible association with milk exposure in infancy among case patients in the validation set.

RESULTS:

None of the 73 outcomes tested in the discovery set revealed significant association with DG, and none of the 10 outcomes tested in the validation set revealed either significant association with DG or significant association with milk exposure among children with DG.

CONCLUSIONS:

Through our results, we demonstrated that there were no significant differences in outcomes tested between case patients and controls or among case patients as a function of milk exposure in infancy. In this study, we provide a long-needed foundation of knowledge for health care providers, families, and NBS professionals seeking to make evidence-based decisions about DG.

Ethical and Psychosocial Issues in Whole Genome Sequencing (WGS) for Newborns

In this article, I review some of the ethical issues that have arisen in the past when genetic testing has been done in newborns. I then suggest how whole genome sequencing may raise a new set of issues. Finally, I introduce a series of other articles in which the authors address different controversies that arise when whole genome sequencing is used in the newborn period.

Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project

BACKGROUND AND OBJECTIVES:

There is interest in applying genomic sequencing (GS) to newborns’ clinical care. Here we explore parents’ and clinicians’ attitudes toward and perceptions of the risks, benefits, and utility of newborn GS compared with newborn screening (NBS) prior to receiving study results.

METHODS:

The BabySeq Project is a randomized controlled trial used to explore the impact of integrating GS into the clinical care of newborns. Parents (n = 493) of enrolled infants (n = 309) and clinicians (n = 144) completed a baseline survey at enrollment. We examined between-group differences in perceived utility and attitudes toward NBS and GS. Open-ended responses about risks and benefits of each technology were categorized by theme.

RESULTS:

The majority of parents (71%) and clinicians (51%) agreed that there are health benefits of GS, although parents and clinicians agreed more that there are risks associated with GS (35%, 70%) than with NBS (19%, 39%; all P < .05). Parents perceived more benefit and less risk of GS than did clinicians. Clinicians endorsed concerns about privacy and discrimination related to genomic information more strongly than did parents, and parents anticipated benefits of GS that clinicians did not.

CONCLUSIONS:

Parents and clinicians are less confident in GS than NBS, but parents perceive a more favorable risk/benefit ratio of GS than do clinicians. Clinicians should be aware that parents’ optimism may stem from their perceived benefits beyond clinical utility.

Rapid Challenges: Ethics and Genomic Neonatal Intensive Care

NICUs are a priority implementation area for genomic medicine. Rapid genomic testing in the NICU is expected to be genomic medicine’s "critical application," providing such clear benefits that it drives the adoption of genomics more broadly. Studies from multiple centers worldwide have now demonstrated the clinical utility and cost-effectiveness of rapid genomic sequencing in this setting, paving the way for widespread implementation. However, the introduction of this potentially powerful tool for predicting future impairment in the NICU also raises profound ethical challenges. Developing models of good practice that incorporate the identification, exploration, and analysis of ethical issues will be critical for successful implementation. In this article, we analyze 3 such issues: (1) the value and meaning of gaining consent to a complex test in a stressful, emotionally charged environment; (2) the effect of rapid diagnosis on parent-child bonding and its implications for medical and family decisions, particularly in relation to treatment limitation; and (3) distributive justice (ie, whether the substantial cost and diversion of resources to deliver rapid genomic testing in the NICU can be justified).

Genomic Sequencing Expansion and Incomplete Penetrance

BACKGROUND:

Genetic data have the potential to impact patient care significantly. In primary care and in the ICU, patients are undergoing genetic testing. Genetics is also transforming cancer care and undiagnosed diseases. Optimal personalized medicine relies on the understanding of disease penetrance. In this article, I examine the complexity of penetrance.

METHODS:

In this article, I assess how variable penetrance can be seen with many diseases, including those of different modes of inheritance, and how genomic testing is being applied effectively for many diseases. In this article, I also identify challenges in the field, including the interpretation of gene variants.

RESULTS:

Using advancing bioinformatics and detailed phenotypic assessment, we can increase the yield of genomic testing, particularly for highly penetrant conditions. The technologies are useful and applicable to different medical situations.

CONCLUSIONS:

There are now effective genome diagnostics for many diseases. However, the best personalized application of these data still requires skilled interpretation.

Challenging the Current Recommendations for Carrier Testing in Children

The authors of current professional guidelines generally do not support the return of information about genetic carrier status for infants and children because of a perceived lack of immediate benefit and an abundance of caution regarding potential harm and desire to protect the children’s future autonomy. The advent of genomic sequencing, used either as a diagnostic or a screening tool, and the increasing use of this technology in childhood creates the potential for the identification of carrier status in the pediatric period. As part of the BabySeq Project, researchers are exploring the implications of genomic sequencing in both newborns who are healthy and newborns who are sick and developing policies and procedures for the return of carrier status information to the parents and physicians of newborns. In this commentary, we review the history of carrier testing in children and explore the potential benefits, risks, and challenges of returning such results both for the children, their parents, and potential future siblings.

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