Health information technology (IT) has opened exciting avenues for capturing, delivering and sharing data, and offers the potential to develop cost-effective, patient-focused applications. In recent years, there has been a proliferation of health IT applications such as outpatient portals. Rigorous evaluation is fundamental to ensure effectiveness and sustainability, as resistance to more widespread adoption of outpatient portals may be due to lack of user friendliness. Health IT applications that integrate with the existing electronic health record and present information in a condensed, user-friendly format could improve coordination of care and communication. Importantly, these applications should be developed systematically with appropriate methodological design and testing to ensure usefulness, adoption, and sustainability. Based on our prior work that identified numerous information needs and challenges of HCT, we developed an experimental prototype of a health IT tool, the BMT Roadmap. Our goal was to develop a tool that could be used in the real-world, daily practice of HCT patients and caregivers (users) in the inpatient setting. In the current study, we examined the views, needs, and wants of patients and caregivers in the design and development process of the BMT Roadmap through two user-centered Design Groups, conducted in March 2015 and April 2015, respectively: Design Group I utilized a low-fidelity paper-based prototype and Design Group II utilized a high-fidelity prototype presented to users as a web-app on Apple® iPads. There were 11 caregivers (median age 44, range 34–69 years) and 8 patients (median age 18 years, range 11–24 years) in the study population. The qualitative analyses revealed a wide range of responses helpful in guiding the iterative development of the system. Three important themes emerged from the Design Groups: 1) perception of core features as beneficial (views), 2) alerting the design team to potential issues with the user interface (needs); and 3) providing a deeper understanding of the user experience in terms of wider psychosocial requirements (wants). From the patient and caregiver perspectives, the BMT Roadmap system was considered useful. The findings from the Design Groups resulted in changes that led to an improved, functional BMT Roadmap product. This unique research process and the findings reported herein included data generated from patients, caregivers, providers, and researchers as partners. Collectively, the data informed the design and development of the tool, which will be tested as an intervention in the pediatric HCT population at our center in the fall of 2015 (ClinicalTrials.gov NCT02409121).

Consanguinity, the union between two individuals who are related as second cousins or closer, is a long‐standing and respected tradition in many communities. Although there are social and economic benefits of consanguineous unions, offspring are at increased risk of having an inherited genetic condition or congenital anomaly. Genetic counseling services for consanguinity are available to couples at many centers. However, little is known about patient expectations of and experiences with genetic counseling for this indication, or their perspectives on genetic screening relevant to family planning, such as expanded carrier screening (ECS). This exploratory qualitative study involved interviews with 13 individuals who had recently received preconception or prenatal genetic counseling for consanguinity at a single center. We sought to gain insight into their expectations for the genetic counseling session, experiences discussing family history and reproductive risks with the genetic counselor, and views on ECS. Interview transcripts were analyzed using an interpretive descriptive approach. Data analysis revealed three main themes: (a) anticipation balances apprehension before the appointment; (b) genetic counseling reduces anxiety and empowers; and (c) the need for wider information dissemination about consanguinity‐related risks and genetic services. Our findings support the personal utility of genetic counseling for consanguinity and demonstrate the need for increased visibility and access to genetics information, counseling, and testing relevant to this patient population.

To identify postdischarge outcome phenotypes and risk factors for poor outcomes using insurance claims data. DESIGN: Retrospective cohort study. SETTING: Single quaternary center. PATIENTS:Children without preexisting tracheostomy who required greater than or equal to 3 days of invasive mechanical ventilation, survived the hospitalization, and had postdischarge insurance eligibility in Colorado's All Payer Claims Database. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS:We used unsupervised machine learning to identify functional outcome phenotypes based on claims data representative of postdischarge morbidities. We assessed health trajectory by comparing change in the number of insurance claims between quarters 1 and 4 of the postdischarge year. Regression analyses identified variables associated with unfavorable outcomes. The 381 subjects had median age 3.3 years (interquartile range, 0.9-12 yr), and 147 (39%) had a complex chronic condition. Primary diagnoses were respiratory (41%), injury (23%), and neurologic (11%). We identified three phenotypes: lower morbidity (n = 300), higher morbidity (n = 62), and 1-year nonsurvivors (n = 19). Complex chronic conditions most strongly predicted the nonsurvivor phenotype. Longer PICU stays and tracheostomy placement most strongly predicted the higher morbidity phenotype. Patients with high but improving postdischarge resource use were differentiated by high illness severity and long PICU stays. Patients with persistently high or increasing resource use were differentiated by complex chronic conditions and tracheostomy placement.CONCLUSIONS: New morbidities are common after prolonged mechanical ventilation. Identifying phenotypes at high risk of postdischarge morbidity may facilitate prognostic enrichment in clinical trials.

Nicotinamide adenine dinucleotide (NAD) is an essential coenzyme involved in over 400 cellular reactions. During embryogenesis, mammals synthesize NAD de novo from dietary l ‐tryptophan via the kynurenine pathway. Biallelic, inactivating variants in three genes encoding enzymes of this biosynthesis pathway (KYNU, HAAO, and NADSYN1) disrupt NAD synthesis and have been identified in patients with multiple malformations of the heart, kidney, vertebrae, and limbs; these patients have Congenital NAD Deficiency Disorder HAAO and four families with biallelic variants in KYNU. These patients present similarly with multiple malformations of the heart, kidney, vertebrae, and limbs, of variable severity. We show that each variant identified in these patients results in loss‐of‐function, revealed by a significant reduction in NAD levels via yeast genetic complementation assays. For the first time, missense mutations are identified as a cause of malformation and shown to disrupt enzyme function. These missense and frameshift variants cause moderate to severe NAD deficiency in yeast, analogous to insufficient synthesized NAD in patients. We hereby expand the genotypic and corresponding phenotypic spectrum of Congenital NAD Deficiency Disorder.

BackgroundPediatric hematopoietic cell transplantation (HCT), commonly referred to as blood and marrow transplantation (BMT), is an intense treatment modality that requires the involvement of engaged caregivers during the patient’s (child’s) prolonged hospitalization. The ubiquity of electronic health records (EHRs) and a trend toward patient-centered care could allow a novel health information technology (IT) system to increase parental engagement. The paucity of research on acute care, hospital-based (inpatient) health IT applications for patients or caregivers provides an opportunity for testing the feasibility of such applications. The pediatric BMT population represents an ideal patient group to conduct an evaluation due to the lengthy inpatient stays and a heightened need for patient activation.ObjectiveThe primary objective of this study is to assess the feasibility of implementing the BMT Roadmap in caregivers as an intervention during their child’s inpatient hospitalization. The BMT Roadmap is an inpatient portal prototype optimized for tablet with a user-centered design. It integrates patient-specific laboratory and medication data from the EHR in real-time and provides support in terms of discharge goals, home care education, and other components. Feasibility will be proven if (1) the BMT Roadmap functions and can be managed by the study team without unexpected effort, (2) the system is accessed by users at a defined minimum threshold, and (3) the qualitative and quantitative research conducted provides quality data that address the perceived usefulness of the BMT Roadmap and could inform a study in a larger sample size.MethodsThis will be a single-arm, nonrandomized feasibility study. We aim to enroll 10 adult caregivers (age ≥ 18 years) of pediatric patients (aged 0-25 years) undergoing autologous (self-donor) or allogeneic (alternative donor) BMT. Assenting minors (aged 10-18) will also be invited to participate. Recruitment of study participants will take place in the outpatient pediatric BMT clinic. After signing an informed consent, the research study team will provide participants with the BMT Roadmap, available on an Apple iPad, which will used throughout the inpatient hospitalization. To measure the study outcomes, approximately 6-8 semistructured qualitative interviews will be conducted periodically from pre-BMT to 100 days post-BMT and an additional 15-20 semistructured interviews will be conducted among BMT health care providers to assess perceived usefulness and usability of the system, as well as any associated workflow impacts. Quantitative survey instruments will only be administered to adult participants (age ≥ 18 years).ResultsRecruitment will begin in September 2015, and preliminary findings are expected in 2016.ConclusionsThis protocol offers a framework for the design and analysis of a personalized health IT system that has the potential to increase patient and caregiver engagement in acute care, hospital-based contexts.

No abstract

OBJECTIVE To evaluate risk factors for post-discharge sequelae in children and adolescents after hospitalization for acute COVID-19 or multisystem inflammatory syndrome in children (MIS-C). METHODS Multicenter prospective observational cohort study conducted in 25 US pediatric hospitals. Patients <21-years-old, hospitalized May 2020 to May 2021 for acute COVID-19 or MIS-C with follow-up 2-4 months after admission. We assessed readmissions, caregiver-reported persistent symptoms or activity impairment, and new morbidities identified by the Functional Status Scale. Multivariable regression was used to calculate adjusted risk ratios (aRR). RESULTS Of 358 eligible patients, 2-4 month survey data were available for 119/155 (76.8%) with acute COVID-19 and 160/203 (78.8%) with MIS-C. Thirteen (11%) patients with acute COVID-19 and 12 (8%) with MIS-C had a readmission. Thirty-two (26.9%) patients with acute COVID-19 had persistent symptoms (22.7%) or activity impairment (14.3%) and 48 (30.0%) patients with MIS-C had persistent symptoms (20.0%) or activity impairment (21.3%). For patients with acute COVID-19, persistent symptoms (aRR, 1.29[95% CI, 1.04-1.59]) and activity impairment (aRR, 1.37[95% CI, 1.06-1.78]) were associated with more organs systems involved. Patients with MIS-C and pre-existing respiratory conditions more frequently had persistent symptoms (aRR, 3.09[95% CI, 1.55-6.14]) and those with obesity more frequently had activity impairment (aRR, 2.52[95% CI, 1.35-4.69]). New morbidities were infrequent (9% COVID-19 and 1% MIS-C). CONCLUSIONS Over one in four children hospitalized with acute COVID-19 or MIS-C experienced persistent symptoms or activity impairment for at least 2 months. Patients with MIS-C and respiratory conditions or obesity are at higher risk of prolonged recovery.

We aimed to identify characteristics associated with postdischarge health resource use in children without medical complexity who survived an episode of prolonged mechanical ventilation for respiratory illness. We hypothesized that longer durations of mechanical ventilation, noncomplex chronic conditions, and severe acute respiratory distress syndrome (ARDS) would be associated with readmission or an Emergency Department (ED) visit. In this retrospective cohort, we evaluated children without a complex chronic condition who survived a respiratory illness requiring ≥3 days of mechanical ventilation and who had insurance eligibility within the Colorado All Payers Claims Database. We used insurance claims to characterize health resource use and multivariable logistic regression to identify characteristics associated with readmission or an ED visit during the postdischarge year. We evaluated 82 children, median age 12.8 months (interquartile range [IQR]: 4.0–24.1), 20 (24%) with a noncomplex chronic condition and 62 (76%) without any chronic conditions. Bronchiolitis (60%) and pneumonia/aspiration pneumonitis (17%) were the most common etiologies of respiratory failure and 47 (57%) patients had severe ARDS. Forty‐six (56%) patients had an ED visit or readmission. Among the 18 readmitted patients, 16/18 (89%) readmissions were for respiratory illness. Forty (49%) patients had ≥2 outpatient pulmonary visits and 45 (55%) filled a pulmonary medication prescription. In analyses controlling for age, illness severity and mechanical ventilation duration, severe ARDS was predictive of ED visit or readmission (odds ratio [OR]: 5.53 [95% confidence interval [CI]: 1.79, 19.09]). Children who survive prolonged mechanical ventilation for respiratory disease experience high rates of postdischarge health resource use, particularly those surviving severe ARDS.