OBJECTIVE: Boys outnumber girls in short stature evaluations and growth hormone treatment despite absence of gender differences in short stature prevalence. Family views on short stature influence medical management, but gender-based analysis of these views is lacking. This study explored endocrine patients' and their parents' perceptions of short stature and its impact on quality of life by patient gender.

METHODS: Patients aged 8-14 years undergoing provocative growth hormone testing and one parent each completed semi-structured interviews. Clinical data were extracted by chart review.

RESULTS: 24 patient-parent dyads (6 female patients, 22 mothers; predominantly non-Hispanic White) participated. Six major themes emerged: 1) patients' perceptions of their short stature were similar by gender, 2) physical experiences of short stature were similar by gender, 3) social experiences of short stature were both similar and different by gender, 4) parental perceptions of short stature as a factor limiting their child's functionality were similar by gender, 5) concern about societal stigma related to short stature arose for both genders, and 6) patients' perceptions of parental messaging about the import of their short stature were similar by gender.

CONCLUSION: Our data reveal more similarities than differences between genders in patient perceptions and patient and parent-reported experiences of short stature. Worry about stature-related stigma was noted for patients of both genders. Parental messaging about short stature emerged as an important area to explore further by patient gender. Our findings suggest that clinicians should be wary of making gender or stigma-based assumptions when evaluating children with short stature.

OBJECTIVE: Identifying ethical concerns with ML applications to healthcare (ML-HCA) before problems arise is now a stated goal of ML design oversight groups and regulatory agencies. Lack of accepted standard methodology for ethical analysis, however, presents challenges. In this case study, we evaluate use of a stakeholder "values-collision" approach to identify consequential ethical challenges associated with an ML-HCA for advanced care planning (ACP). Identification of ethical challenges could guide revision and improvement of the ML-HCA.

MATERIALS AND METHODS: We conducted semistructured interviews of the designers, clinician-users, affiliated administrators, and patients, and inductive qualitative analysis of transcribed interviews using modified grounded theory.

RESULTS: Seventeen stakeholders were interviewed. Five "values-collisions"-where stakeholders disagreed about decisions with ethical implications-were identified: (1) end-of-life workflow and how model output is introduced; (2) which stakeholders receive predictions; (3) benefit-harm trade-offs; (4) whether the ML design team has a fiduciary relationship to patients and clinicians; and, (5) how and if to protect early deployment research from external pressures, like news scrutiny, before research is completed.

DISCUSSION: From these findings, the ML design team prioritized: (1) alternative workflow implementation strategies; (2) clarification that prediction was only evaluated for ACP need, not other mortality-related ends; and (3) shielding research from scrutiny until endpoint driven studies were completed.

CONCLUSION: In this case study, our ethical analysis of this ML-HCA for ACP was able to identify multiple sites of intrastakeholder disagreement that mark areas of ethical and value tension. These findings provided a useful initial ethical screening.

BACKGROUND: Neuromuscular/neurologic disease confers increased risk of perioperative mortality in children. Some patients require tracheostomy and/or feeding tubes to ameliorate upper airway obstruction or respiratory failure and reduce aspiration risk. Empiric differences between patients with and without these devices and their association with postoperative mortality have not been previously assessed.

METHODS: This retrospective cohort study using the Pediatric Health Information System measured 3- and 30-day in-hospital postsurgical mortality among children 1 month to 18 years of age with neuromuscular/neurologic disease at 44 US children's hospitals, from April 2016 to October 2018. We summarized differences between patients presenting for surgery with and without these devices using standardized differences. Then, we calculated 3- and 30-day mortality among patients with tracheostomy, feeding tube, both, and neither device, overall and stratified by important exposures, using Fisher exact test to test whether differences were significant.

RESULTS: There were 43,193 eligible patients. Unadjusted 3-day mortality was 1.3% (549/43,193); 30-day mortality was 2.7% (1168/43,193). Most (79.1%) used neither a feeding tube or tracheostomy, 1.2% had tracheostomy only, 15.5% had feeding tube only, and 4.2% used both devices. Compared to children with neither device, children using either or both devices were more likely to have multiple CCCs, dysphagia, chronic pulmonary disease, cerebral palsy, obstructive sleep apnea, or malnutrition, and a prolonged intensive care unit (ICU) stay within the previous year. They were less likely to present for high-risk surgeries (33% vs 57%). Having a feeding tube was associated with decreased 3-day mortality overall compared to having neither device (0.9% vs 1.3%, P = .003), and among children having low-risk surgery, and surgery during urgent or emergent hospitalizations. Having both devices was associated with decreased 3-day mortality among children having low-risk surgery (0.8% vs 1.9%; P = .013), and during urgent or emergent hospitalizations (1.6% vs 2.9%; P = .023). For 30-day mortality, having a feeding tube or both devices was associated with lower mortality when the data were stratified by the number of CCCs.

CONCLUSIONS: Patients requiring tracheostomy, feeding tube, or both are generally sicker than patients without these devices. Despite this, having a feeding tube was associated with lower 3-day mortality overall and lower 30-day mortality when the data were stratified by the number of CCCs. Having both devices was associated with lower 3-day mortality in patients presenting for low-risk surgery, and surgery during urgent or emergent hospitalizations.

PURPOSE: This study aimed to examine variation in genetic testing between neonatal intensive care units (NICUs) across hospitals over time.

METHODS: We performed a multicenter large-scale retrospective cohort study using NICU discharge data from the Pediatric Hospital Information System database between 2016 and 2021. We analyzed the variation in the percentage of NICU patients who had any genetic testing across hospitals and over time. We used a multivariable multilevel logistic regression model to investigate the potential association between patient characteristics and genetic testing.

RESULTS: The final analysis included 207,228 neonates from 38 hospitals. Overall, 13% of patients had at least 1 genetic test sent, although this varied from 4% to 50% across hospitals. Over the study period, the proportion of patients tested increased, with the increase disproportionately borne by hospitals already testing high proportions of patients. On average, patients who received genetic testing had higher illness severity. Controlling for severity, however, only minimally reduced the degree of hospital-level variation in genetic testing.

CONCLUSION: The percentage of NICU patients who undergo genetic testing varies among hospitals and increasingly so over time. Variation is largely unexplained by differences in severity between hospitals. The degree of variation suggests that clearer guidelines for NICU genetic testing are warranted.

BACKGROUND AND OBJECTIVES: Many patients receiving pediatric palliative care (PPC) present with surgically treatable problems. The role of surgery in the care of these patients, however, has not yet been defined. We conducted a cohort study of children receiving PPC to assess the incidence, type, and likely purpose of surgical interventions performed after the initiation of PPC.

METHODS: We performed a cohort analysis of surgical interventions performed on children enrolled in an ongoing, multicenter, prospective cohort study. Patients aged <30 years receiving PPC services were eligible for inclusion in the study. Analyses included descriptive and comparative statistics, as well as logistic regression models.

RESULTS: After initiation of PPC, 81.1% (n = 488) of patients had undergone at least 1 surgical intervention (range, 1-71) with a median of 4 interventions (interquartile range, 1-9). The most frequent surgical interventions were feeding tubes, endoscopic biopsy, tracheostomy, bone marrow biopsy, tunneled catheters, bronchoscopy, and chest tube placement, followed by sternum closure, abdominal closure, atrial and ventricular septal defect repairs, and heart transplantation. Children who underwent surgical interventions were statistically less likely to die while receiving PPC (29% vs 40%, P < .03).

CONCLUSIONS: Most children receiving PPC services undergo at least 1 surgical intervention, and many undergo numerous interventions. Undergoing intervention is not futile because surgical intervention is associated with longer survival. Various patient populations that are more likely, as well as less likely, to undergo surgical intervention warrant specific focus.

BACKGROUND: We previously developed stakeholder-informed quality measures to assess end-of-life care quality for children with cancer. We sought to implement a subset of these quality measures in the multi-center pediatric palliative care (PPC) database.

PROCEDURES: We utilized the Shared Data and Research database to evaluate the proportion of childhood cancer decedents from 2017-2021 who, in the last 30 days of life, avoided chemotherapy, mechanical ventilation, intensive care unit admissions, and > 1 hospital admission; were enrolled in hospice services, and reported ≤ 2 highly distressing symptoms. We then explored patient factors associated with the attainment of quality benchmarks.

RESULTS: Across 79 decedents, 82% met ≥ 4 quality benchmarks. Most (76%) reported > 2 highly distressing symptoms; 17% were enrolled in hospice. In univariable analyses, patients with an annual household income ≤$50,000 had lower odds of hospice enrollment and avoidance of mechanical ventilation or intensive care unit admissions near end of life (odds ratio [OR] 0.10 [95% confidence interval (C.I.) 0.01, 0.86], p = 0.04; OR 0.13 [0.02, 0.64], p = 0.01; OR 0.36 [0.13, 0.98], p = 0.04, respectively). In multivariable analyses, patients with an income ≤$50,000 remained less likely to enroll in hospice, after adjusting for cancer type (OR 0.10 [0.01, 0.87]; p = 0.04).

CONCLUSIONS: Childhood cancer decedents who received PPC met a large proportion of quality measures near the end of their life. Yet, many reported highly distressing symptoms. Moreover, patients with lower household incomes appeared less likely to enroll in hospice and more likely to receive intensive hospital services near the end of life. This study identifies opportunities for palliative oncology quality improvement.

Care for U.S. children living with serious illness and their families at home is a complex and patchwork system. Improving home-based care for children and families requires a comprehensive, multilevel approach that accounts for and examines relationships across home environments, communities, and social contexts in which children and families live and receive care. We propose a multilevel conceptual framework, guided by Bronfenbrenner's ecological model, that conceptualizes the complex system of home-based care into five levels. Levels 1 and 2 contain patient and family characteristics. Level 3 contains factors that influence family health, well-being, and experience with care in the home. Level 4 includes the community, including community groups, schools, and providers. Level 5 includes the broader regional system of care that impacts the care of children and families across communities. Finally, care coordination and care disparities transcend levels, impacting care at each level. A multilevel ecological framework of home-based care for children with serious illness and families can be used in future multilevel research to describe and test hypotheses about aspects of this system of care, as well as to inform interventions across levels to improve patient and family outcomes.

Importance: Genomic medicine holds promise to revolutionize care for critically ill infants by tailoring treatments for patients and providing additional prognostic information to families. However, measuring the utility of genomic medicine is not straightforward and has important clinical and ethical implications.

Objective: To review the ways that researchers measure or neglect to measure the utility of genomic medicine for critically ill infants.

Evidence Review: This systematic review included prospective full-text studies of genomic medicine of both whole exome and genome sequencing in critically ill infants younger than 1 year. PubMed, Embase, Scopus, and Cochrane Library databases, the Cochrane Database of Systematic Reviews, and the ClinicalTrials.gov register were searched with an English language restriction for articles published from the inception of each database through May 2022. Search terms included variations of the following: gene, sequencing, intensive care, critical care, and infant. From the included articles, information on how utility was defined and measured was extracted and synthesized. Information was also extracted from patient cases that authors highlighted by providing additional information. Spearman rank-order correlation was used to evaluate the association between study size and utility.

Findings: Synthesized data from the 21 included studies reflected results from 1654 patients. A mean of 46% (range, 15%-72%) of patients had a positive genetic test result, and a mean of 37% (range, 13%-61%) met the criteria for experiencing utility. Despite heterogeneity in how studies measured and reported utility, a standardized framework was created with 5 categories of utility: treatment change, redirection of care, prognostic information, reproductive information, and screening or subspecialty referral. Most studies omitted important categories of utility, notably personal utility (patient-reported benefits) (20 studies [95%]), utility of negative or uncertain results (15 [71%]), and disutility (harms) (20 [95%]). Studies disproportionally highlighted patient cases that resulted in treatment change. Larger studies reported substantially lower utility (r = -0.65; P = .002).

Conclusions and Relevance: This systematic review found that genomic medicine offered various categories of utility for a substantial proportion of critically ill infants. Studies measured utility in heterogeneous ways and focused more on documenting change than assessing meaningful benefit. Authors' decisions about which cases to highlight suggest that some categories of utility may be more important than others. A more complete definition of utility that is used consistently may improve understanding of potential benefits and harms of genetic medicine.