Representation of Women in Published Articles at 3 Academic Pediatric Journals: 2001 to 2022.

OBJECTIVE: To evaluate the representation of women authors and editorial board members at 3 pediatric journals. METHODS: We conducted a retrospective review of original research articles published in Pediatrics, The Journal of Pediatrics, and JAMA Pediatrics from 2001 to 2022. We analyzed five 1-year intervals and inferred the binary gender of authors by first name. Cochran-Armitage tests evaluated trends in gender proportion of authorship and editorial board membership over time. Pearson's χ2 tests compared United States (US) authorship position and faculty rank as determined by Association of American Medical Colleges' data. RESULTS: From 2001 to 2022, 4426 original research articles were studied (exclusion rate <1%). There was a 23.7%, 15.9%, and 28.8% increase in proportion of women as first authors, senior authors, and editorial board members globally, with all trends significant over time (P < .01). In 2022, US women were 67.3% of first authors, only slightly lower than the 68.6% of women junior faculty (P = .01). US women were 48.0% of US senior authors, equivalent to the 47.5% of US women senior faculty (P = .18). US women represented 47.4% of US editorial board members, equivalent to their percentage as senior faculty (P = .98). CONCLUSIONS: The percentage of US and international women authorship and editorial board membership has steadily increased. The percentage of US women as junior faculty and first authors is almost equivalent. The percentage of US women as senior faculty, senior authors, and editorial board members is equivalent but significantly reduced from their junior faculty representation.

Newborn Screening for Neurodevelopmental Disorders May Exacerbate Health Disparities.

Newborn screening (NBS) began in the early 1960s with screening for phenylketonuria on blood collected on filter paper. The number of conditions included in NBS programs expanded significantly with the adoption of tandem mass spectrometry. The recommended uniform screening panel provides national guidance and has reduced state variability. Universality and uniformity have been supported to promote equity. Recently, a number of researchers have suggested expanding NBS to include genomic sequencing to identify all genetic disorders in newborns. This has been specifically suggested for genes that increase the risk for neurodevelopmental disorders (NDDs), with the presumption that early identification in the newborn period would reduce disabilities. We offer arguments to show that genomic sequencing of newborns for NDDs risks exacerbating disparities. First, the diagnosis of NDD requires clinical expertise, and both genetic and neurodevelopmental expertise are in short supply, leading to disparities in access to timely follow-up. Second, therapies for children with NDDs are insufficient to meet their needs. Increasing early identification for those at risk who may never manifest developmental delays could shift limited resources to those children whose parents are more poised to advocate, worsening disparities in access to services. Rather, we suggest an alternative: genomic sequencing of all children with diagnosed NDDs. This focused strategy would have the potential to target genomic sequencing at children who manifest NDDs across diverse populations which could better improve our understanding of contributory genes to NDDs.

How Race, Ethnicity, and Social Determinants of Health Are Reported in Three European Pediatric Journals.

OBJECTIVES: To evaluate how geography, ethnicity, ancestry, and race or religion (GEAR) and social determinants of health (SDOH) data are reported and discussed in 3 European pediatric journals and to compare practices between European and American journals. STUDY DESIGN: A retrospective analysis of all original articles that enrolled children (<18 years old) published from January through June 2021 in 3 European pediatric journals: Archives of Disease in Childhood, European Journal of Pediatrics, and Acta Paediatrica. We categorized SDOH using the 5 domains as outlined by the US Healthy People 2030 framework. For each article, we recorded whether GEAR and SDOH were reported in the results and interpreted in the discussion sections. We then compared these European data by χ2 tests with data from 3 US pediatric journals. RESULTS: Of the 320 studied articles, 64 (20%) and 80 (25%) reported GEAR and SDOH data in the results sections, respectively. Of those articles, 32 (50%) and 53 (66.3%) studies interpreted the GEAR and SDOH data in their discussion sections, respectively. On average, articles reported factors from 1.2 GEAR and 1.9 SDOH categories with great variability in the variables collected and data groupings. Articles published in European journals were less likely to report GEAR and SDOH than articles published in US journals (P < .001 for both). CONCLUSIONS: Articles published in European pediatric journals did not commonly report either GEAR or SDOH, and there was wide variation in how data were collected and reported. Harmonization of categories will allow for more accurate interstudy comparisons.

Diagnosis, treatment and disclosure: A qualitative exploration of participant challenges in a Monogenic Diabetes Registry.

PURPOSE: Maturity-onset diabetes of the young (MODY) represents a heterogenous group of monogenic diabetes. Despite its autosomal dominant inheritance, many MODY participants in the University of Chicago Monogenic Diabetes Registry have no family members enrolled. We aimed to gather data on the Registry participants' experiences in (1) receipt of an accurate diagnosis, (2) decisions regarding disclosure of their MODY genetic test results with biological relatives, and (3) recommendations toward our Registry's processes and outreach. METHODS: We conducted 20 one-on-one semistructured interviews with adult Registry participants. RESULTS: All participants found navigating the health care system challenging because of the providers' unfamiliarity with MODY and dismissal of its importance post diagnosis. All had shared their results with at least 1 relative, however many found their relatives resistant to engaging with their providers. Participants wanted to receive targeted information on their condition and connect with other participants who have faced similar diagnostic and treatment challenges. CONCLUSION: Our results demonstrate that our probands faced resistance to reclassification of their diabetes from both health care providers and relatives. In an effort to improve cascade testing, the Registry is designing a portal to facilitate participant-research team communication and provide additional supports for participants to involve family members in testing.

International Pediatric Transplant Association (IPTA) position statement supporting prioritizing pediatric recipients for deceased donor organ allocation.

A position statement of the International Pediatric Transplant Association endorsing prioritizing pediatric recipients for deceased donor organ allocation, examining the key ethical arguments that serve as the foundation for that position, and making specific policy recommendations to support prioritizing pediatric recipients for deceased donor organ allocation globally.

Investigator and participant expectations for returning non-genetic results: insights from the Rare and Atypical Diabetes Network (RADIANT) study.

Objectives/Goals: The Rare and Atypical DIAbetes NeTwork (RADIANT) aims to discover the underlying pathoetiology of atypical diabetes by conducting both genotyping and non-genetic deep phenotyping. While the return of genetic test results in research settings has been investigated, the return of non-genetic results (RoR-NG) has received less attention. We explore the RoR-NG with RADIANT investigators and participants. Methods/Study Population: We conducted one-on-one interviews with 10 adult RADIANT participants and 10 RADIANT investigators. Participants also completed two health literacy screening tools and a survey on perspectives regarding return of results (RoR). Investigators completed one survey on experience and confidence in explaining clinical tests utilized in the RADIANT study and another survey on perspectives regarding RoR. Results: Most participants were non-Hispanic White. All participants had high scores on health literacy screens. Both RADIANT participants and investigators expressed strong support for RoR-NG. RADIANT participants and investigators acknowledged the different roles and responsibilities between research and clinical care for interpreting and acting on non-genetic results. However, the lines between clinical care and research in returning and acting on results were often blurred by both participants and investigators. Discussion/Significance: Our study provides important insight into how both investigators and participants simultaneously distinguish and blur clinical and research roles and responsibilities when discussing non-genetic research results and the return of these results. Further study should engage individuals from diverse racial and ethnic backgrounds and with varying levels of health literacy to understand how best to support all participants when returning research results.

The philosopher as partner: an introduction to the scholarship of Robert M. Veatch.

A diverse group of scholars reflect on the scholarship of Robert M. Veatch, the breadth of which is unmatched in modern day bioethics. Essays were written by both philosophers and clinician-philosophers, by contemporaries and mentees. They span the breadth of Bob's work and include analyses of his ideas about death, dying and organ transplantation, human experimentation and research ethics, disability, equality and justice, the doctor-patient relationship, the history of bioethics, as well as his pedagogical approach to teaching bioethics to clinicians across the health care spectrum. Recognition of Bob's influence in the modern field of bioethics and the challenges that persist are clearly identified.

An Ethical Analysis of Newborn Congenital Cytomegalovirus Screening.

Congenital cytomegalovirus (cCMV) affects approximately 1 in every 200 US infants and can be associated with long-term neurodevelopmental sequelae, including sensorineural hearing loss, cerebral palsy, and intellectual disability. As cCMV is infrequently diagnosed based on clinical suspicion alone, newborn cCMV screening programs have been gaining traction, especially hearing-targeted programs which only test infants who fail their newborn hearing screen. cCMV screening programs raise unique ethical dilemmas of both under- and over-diagnosis of cCMV. In this Ethics Rounds, we present a case in which the parents of a child with symptomatic cCMV that was not recognized until 4 years of age urge the birth hospital to implement a cCMV screening program. We then ask a parent-clinician, a medical ethicist and pediatrician, and a primary care pediatrician to comment on how they would advise the hospital administration and consider the ethical and clinical implications of a cCMV screening program. The commentaries herein arrive at differing conclusions about cCMV screening. The first highlights the developmental advantages of early cCMV detection, supporting a broad approach to treatment beyond antiviral medication alone. The second explores cCMV screening from the perspective of newborn screening as a public health program, noting shortcomings in available testing platforms, and raising concerns about overdiagnosis and overtreatment. The final commentary challenges the risks of undue parental anxiety and vulnerable child syndrome as a barrier to screening, instead considering cCMV screening as a controlled opportunity to understand and support the experiences of affected children and their families.

The Use of Race, Ethnicity, and Social Determinants of Health in Three Pediatrics Journals.

OBJECTIVE: To evaluate how race, ethnicity, and social determinants of health (SDOH) are reported and discussed in 3 pediatrics journals. STUDY DESIGN: Bibliometric analysis of original articles that enrolled children as participants between January-June 2021 published in The Journal of Pediatrics, Pediatrics, and JAMA Pediatrics. We recorded in aggregate the inclusion of race, ethnicity, and SDOH data from the methods, results, and discussion sections of each article. We then used χ2 analyses and t tests to compare recording and use of race, ethnicity, and SDOH data on a number of factors. RESULTS: A total of 317 original articles were included with 200 (63.1%) conducted in the US. Researchers presented 116 unique race and ethnicity categories. US studies reported race significantly more frequently than international studies (166/200, 83.0% vs 29/117, 24.8% P < .001), yet only 24.7% (41/166) of US and 10.3% (3/29) of international studies that reported these data interpreted their significance and linked such to their study findings. US federal funding influenced reporting of race and ethnicity but not interpretation. Less than one-half of all studies reported SDOH (147/317, 46.4%), and very few that reported SDOH interpreted the data to study findings in both the US (18/106, 17.0%) and internationally (3/41, 7.3%). CONCLUSION: Race, ethnicity, and SDOH data are reported without consistent categories, and their significance is not often explained in both US and international articles. Researchers should be more intentional about how and why they collect, report, and interpret these data to help identify health disparities and highlight health inequities.

Race in the Reading: A Study of Problematic Uses of Race and Ethnicity in a Prominent Pediatrics Textbook.

PURPOSE: Aspects of medical education and clinical practice continue to reflect the antiquated notion that race is a biologically valid distinction among individuals rather than a social construct. The authors analyzed the use of race and ethnicity in a popular pediatrics textbook to determine if these concepts were being used consistently and correctly. METHOD: In May 2021, using the search function on the American Academy of Pediatrics (AAP) eBooks platform, the authors searched for 29 race- or ethnicity-related terms (e.g., African, Asian, Black, race) in the AAP Textbook of Pediatric Care, 2nd Edition , which was published in 2016. One researcher extracted direct quotes containing at least one of these search terms. Three researchers independently coded each quote as problematic or nonproblematic with respect to the use of the search terms, excluding examples in which the terms were used in irrelevant contexts (e.g., black box warning). The researchers then identified themes based on the quotes that used race and ethnicity problematically. RESULTS: The search produced 2,167 total results across the search terms, 806 of which were relevant to race or ethnicity and were analyzed. Problematic quotes: (1) used race or ethnicity as a surrogate for social variables, (2) conflated terminology (e.g., conflated socially defined race with genetic ancestry), (3) overgeneralized or made claims based on limited data, (4) lacked clinical relevance, (5) lacked inclusivity, (6) promoted racial stereotypes, or (7) made contradicting claims about race. CONCLUSIONS: The use of race and ethnicity in the AAP Textbook of Pediatric Care, 2nd Edition was not always appropriate, as demonstrated by examples that reified race as a biological fact and thereby promoted structural racism. Critical evaluation of the use of race and ethnicity in all current medical textbooks and future revisions is warranted.