The Burden of COVID-19 on Caregivers of Children with Suspected Genetic Conditions: A Therapeutic Odyssey.

AIMS: Children with disabilities and rare or undiagnosed conditions and their families have faced numerous hardships of living during the COVID-19 pandemic. For those with undiagnosed conditions, the diagnostic odyssey can be long, expensive, and marked by uncertainty. We, therefore, sought to understand whether and how COVID-19 impacted the trajectory of children's care. METHODS: We conducted semi-structured qualitative interviews with 25 caregivers who, prior to the pandemic, were on a diagnostic odyssey for their children. RESULTS: Most caregivers did not report any interruptions to their child's diagnostic odyssey. The greatest impact was access to therapy services, including the suspension or loss of their child's in-person therapeutic care and difficulties with virtual therapies. This therapy gap caused caregivers to fear that their children were not making progress. CONCLUSION: Although much has been written about the challenges of diagnostic odysseys for children and their families, this study illustrates the importance of expanding the focus of these studies to include therapeutic odysseys. Because therapeutic odysseys continue regardless of whether diagnoses are made, future research should investigate how to support caregivers through children's therapies within and outside of the COVID-19 context.

Untapped Potential for Emergency Department Observation Unit Use: A National Hospital Ambulatory Medical Care Survey (NHAMCS) Study.

INTRODUCTION: Millions of people present to the emergency department (ED) with chest pain annually. Accurate and timely risk stratification is important to identify potentially life-threatening conditions such as acute coronary syndrome (ACS). An ED-based observation unit can be used to rapidly evaluate patients and reduce ED crowding, but the practice is not universal. We estimated the number of current hospital admissions in the United States (US) eligible for ED-based observation services for patients with symptoms of ACS. METHODS: In this cross-sectional analysis we used data from the 2011-2015 National Hospital Ambulatory Medical Care Survey (NHAMCS). Visits were included if patients presented with symptoms of ACS (eg, chest pain, dyspnea), had an electrocardiogram (ECG) and cardiac markers, and were admitted to the hospital. We excluded patients with any of the following: discharge diagnosis of myocardial infarction; cardiac arrest; congestive heart failure, or unstable angina; admission to an intensive care unit; hospital length of stay > 2 days; alteplase administration, central venous catheter insertion, cardiopulmonary resuscitation or endotracheal intubation; or admission after an initial ED observation stay. We extracted data on sociodemographics, hospital characteristics, triage level, disposition from the ED, and year of ED extracted from the NHAMCS. Descriptive statistics were performed using sampling weights to produce national estimates of ED visits. We provide medians with interquartile ranges for continuous variables and percentages with 95% confidence intervals for categorical variables. RESULTS: During 2011-2015 there were an estimated 675,883,000 ED visits in the US. Of these, 14,353,000 patients with symptoms of ACS and an ED order for an ECG or cardiac markers were admitted to the hospital. We identified 1,883,000 visits that were amenable to ED observation services, where 987,000 (52.4%) were male patients, and 1,318,000 (70%) were White. Further-more, 739,000 (39.2%) and 234,000 (12.4%) were paid for by Medicare and Medicaid, respectively. The majority (45.1%) of observation-amenable hospitalizations were in the Southern US. CONCLUSION: Emergency department-based observation unit services for suspected ACS appear to be underused. Over half of potentially observation-amenable admissions were paid for by Medicare and Medicaid. Implementation of ED-based observation units would especially benefit hospitals and patients in the American South.

Effect of language interpretation modality on throughput and mortality for critical care patients: A retrospective observational study.

OBJECTIVE: Limited data exist describing possible delays in patient transfer from the emergency department (ED) as a result of language barriers and the effects of interpretation services. We described the differences in ED length of stay (LOS) before intensive care unit (ICU) arrival and mortality based on availability of telephone or in-person interpretation services. METHODS: Using an ICU database from an urban academic tertiary care hospital, ED patients entering the ICU were divided into groups based on primary language and available interpretation services (in-person vs telephone). Non-parametric tests were used to compare ED LOS and mortality between groups. RESULTS: Among 22,422 included encounters, English was recorded as the primary language for 51% of patients (11,427), and 9% of patients (2042) had a primary language other than English. Language was not documented for 40% of patients (8953). Among encounters with patients with non-English primary languages, in-person interpretation was available for 63% (1278) and telephone interpretation was available for 37% (764). In the English-language group, median ED LOS was 292 minutes (interquartile range [IQR], 205-412) compared with 309 minutes (IQR, 214-453) for patients speaking languages with in-person interpretation available and 327 minutes (IQR, 225-463) for patients speaking languages with telephone interpretation available. Mortality was higher among patients with telephone (15%) or in-person (11%) interpretation available compared with patients who primarily spoke English (9%). CONCLUSIONS: Patients with primary languages other than English who were critically ill spent a median of 17 to 35 more minutes in the ED before ICU arrival and experienced higher mortality rates compared with patients who spoke English as a primary language.

Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial.

BACKGROUND: Exome sequencing (ES) has probable utility for shortening the diagnostic odyssey of children with suspected genetic disorders. This report describes the design and methods of a study evaluating the potential of ES as a routine clinical tool for pediatric patients who have suspected genetic conditions and who are in the early stages of the diagnostic odyssey. METHODS: The North Carolina Clinical Genomic Evaluation by Next-generation Exome Sequencing (NCGENES) 2 study is an interdisciplinary, multi-site Phase III randomized controlled trial of two interventions: educational pre-visit preparation (PVP) and offer of first-line ES. In this full-factorial design, parent-child dyads are randomly assigned to one of four study arms (PVP + usual care, ES + usual care, PVP + ES + usual care, or usual care alone) in equal proportions. Participants are recruited from Pediatric Genetics or Neurology outpatient clinics in three North Carolina healthcare facilities. Eligible pediatric participants are < 16 years old and have a first visit to a participating clinic, a suspected genetic condition, and an eligible parent/guardian to attend the clinic visit and complete study measures. The study oversamples participants from underserved and under-represented populations. Participants assigned to the PVP arms receive an educational booklet and question prompt list before clinical interactions. Randomization to offer of first-line ES is revealed after a child's clinic visit. Parents complete measures at baseline, pre-clinic, post-clinic, and two follow-up timepoints. Study clinicians provide phenotypic data and complete measures after the clinic visit and after returning results. Reportable study-related research ES results are confirmed in a CLIA-certified clinical laboratory. Results are disclosed to the parent by the clinical team. A community consultation team contributed to the development of study materials and study implementation methods and remains engaged in the project. DISCUSSION: NCGENES 2 will contribute valuable knowledge concerning technical, clinical, psychosocial, and health economic issues associated with using early diagnostic ES to shorten the diagnostic odyssey of pediatric patients with likely genetic conditions. Results will inform efforts to engage diverse populations in genomic medicine research and generate evidence that can inform policy, practice, and future research related to the utility of first-line diagnostic ES in health care. TRIAL REGISTRATION: ClinicalTrials.gov NCT03548779 . Registered on June 07, 2018.