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Background: Previous studies suggest an association between late pregnancy exposure to selective serotonin reuptake inhibitors (SSRIs) and serotonin norepinephrine reuptake inhibitors (SNRIs) and increased postpartum hemorrhage (PPH) risk. This is the first pregnancy registry study to compare PPH outcomes among women with psychiatric illness exposed or unexposed to SSRIs/SNRIs proximate to delivery. Methods: This study used data from the National Pregnancy Registry for Psychiatric Medications to evaluate the relationship between SSRI/SNRI exposure in late pregnancy and PPH risk. The sample included n = 953 participants with retrospectively collected medical record data on postpartum blood loss, n = 453 unexposed to SSRIs/SNRIs during pregnancy, and n = 500 exposed at least during the week of delivery. PPH was defined as an estimated blood loss ≥500 mL following vaginal delivery or ≥1,000 mL following cesarean section (C-section), with onset of excessive bleeding occurring within the first 24 hours postpartum. Univariate and multivariate logistic regression analyses were performed to determine odds ratios. Results: Overall PPH incidence was 13.1%. SSRI/SNRI exposure was associated with a PPH unadjusted odds ratio of 1.42 compared to no exposure (95% confidence interval [CI: 0.97, 2.08]) and an adjusted odds ratio of 1.33 (95% CI [0.90, 1.97]). When stratified by delivery type, the odds ratio following vaginal delivery among women exposed to SSRIs/SNRIs was 1.04 (95% CI [0.63, 1.70]) versus 2.31 (95% CI [1.25, 4.26]) for C-section delivery; the adjusted C-section odds ratio was 2.21 (95% CI [1.18, 4.13]). Conclusions: Although these findings align with accumulating evidence suggesting SSRI/SNRI exposure may confer a modestly increased risk of PPH, particularly after C-section, the study was underpowered to make definitive conclusions. These preliminary data highlight the need for further research with larger sample sizes. Nevertheless, the findings underscore the importance of greater clinical monitoring for PPH following C-section, especially in women who may have other known PPH risk factors and are exposed to SSRIs/SNRIs in late pregnancy.
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BACKGROUND: A standardized approach to prepare trainees for the job search has not been described. The objective of this study was to describe and evaluate an educational series on the job search for Neonatal-Perinatal Medicine (NPM) fellows and identify participants' job search knowledge gaps. METHODS: During the 2020-2021 academic year, we created a virtual, seven-part job search series for NPM fellows that required no funding. The series has been repeated annually. We use REDCap surveys to register participants, collect baseline/demographic information, and evaluate the series' impact at the beginning and end of the job search timeline. RESULTS: In the 2021-2022 academic year, 290 individuals registered for the series, and 89% completed the baseline/demographic survey. The majority were NPM fellows (89%). Early career neonatologists, NPM hospitalists, and pediatric residents also utilized the series (11%). Less than 25% reported being "knowledgeable" or "very knowledgeable" of core job search components, including the timeline of the job search, contract negotiation, and the general roles and responsibilities of junior faculty. Of those who completed the final job search survey and underwent a job search (60%, 97 of 162), the majority (86%) felt that career planning during training was stressful and believed that job search preparation should be structured into the NPM fellowship curriculum (81%). Many felt that the Job Search Series was helpful in elucidating components of the job search. CONCLUSIONS: We identified several knowledge gaps in NPM fellows' understanding of how to find, prepare for, and negotiate their first post-training job. We strongly believe these knowledge gaps are not unique to NPM fellows and that all graduate medical education trainees would benefit from a similar, easy-to-implement, no-cost series.
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Selección de Profesión , Becas , Perinatología , Humanos , Perinatología/educación , Neonatología/educación , Femenino , Masculino , Solicitud de Empleo , Adulto , Educación de Postgrado en Medicina , Internado y Residencia , Encuestas y CuestionariosRESUMEN
Objective: Situated in Children's National Hospital (CNH)'s Neuropsychology Division, the Gender and Autism Program (GAP) is the first clinical service dedicated to the needs of autistic gender-diverse/transgender youth. This study describes GAP clinical assessment profiles and presents a multi-perspective programmatic review of GAP evaluation services. Method: Seventy-five consecutive gender- and neuropsychologically-informed GAP evaluations were analyzed, including demographics, gender and autism characterization, and primary domains evaluated. Three program-based Delphi studies were conducted and identify: clinician priorities and challenges in providing care, program administrator lessons learned and ongoing barriers, and considerations adapting this model for a rural academic medical center. Results: Nearly two-thirds of referrals were transfeminine. Most youth had existing autism diagnoses; of those undiagnosed, three-quarters were found to be autistic. Five goals of evaluations were identified: Mental health was always assessed, and most evaluations also assessed gender-related needs in the context of autism neurodiversity. Neuropsychological characterization of strengths and challenges informed personalized accommodations to support youth gender-related self-advocacy. Clinicians emphasized frequent youth safety concerns. Administrators emphasized the need for specialized training for working with families. Components for adaptation of the GAP in a rural academic medical center were identified. Conclusions: Since its founding, the GAP has proven a sustainable neuropsychology-based service with consistent referral flow and insurance authorizations. Capturing staff perspectives through rigorous Delphi methods, and addressing the GAP's feasibility and replicability, this study provides a road map for replicating this service. We also highlight GAP training of specialist clinicians, fundamental to addressing the desperate shortage of providers in this field.
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BACKGROUND: Effective learning strategies are crucial to the development of academic skills and information retention, especially in post secondary education where increasingly complex subjects are explored. Active recall-based strategies have been identified as particularly effective for long-term learning. This systematic review investigates the effectiveness of various active recall-based learning strategies for improving academic performance and self-efficacy in higher education students. METHODS: A systematic review of peer-reviewed articles was conducted with a priori criteria by searching PubMed, ScienceDirect, JSTOR, PsycInfo, and Web of Science databases. Search results were screened/extracted and reconciled by two independent authors with the use of a piloted screening tool. Included studies were assessed for quality and risk of bias using the GRADE Quality Assessment Tool for Quantitative Studies. Three overarching study strategies were extracted for further investigation including flashcards, practice testing or retrieval practice, and concept mapping. Within each category, three additional unique search strings were searched, screened, and extracted. A qualitative analysis of the studies was provided. RESULTS: Among the appraised articles, flashcards were found to be popular and correlated with higher GPA and test scores. Self-testing, retrieval practice, and concept mapping were also effective but under-utilized. Concept mapping was found to boost student confidence. CONCLUSION: Active recall strategies exhibit promise for effective learning and additional research in these developing field can support academic pursuits.
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Éxito Académico , Recuerdo Mental , Humanos , Adulto Joven , Estudiantes/psicología , Autoeficacia , AprendizajeRESUMEN
OBJECTIVE: To determine the frequency, degree, and nature of prognostic discordance between parents and physicians caring for infants with neurologic conditions. STUDY DESIGN: In this observational cohort study, we enrolled parents and physicians caring for infants with neurologic conditions in advance of a family conference. Parent-physician dyads completed a postconference survey targeting expected neurologic outcomes across 3 domains (motor, speech, and cognition) using a 6-point scale. Prognostic discordance was defined as a difference of ≥2 response options and was considered moderate (difference of 2-3 response options) or high (difference of 4-5 response options). Responses were categorized as differences in belief and/or differences in understanding using an existing paradigm. RESULTS: Forty parent-physician dyads of 28 infants completed surveys. Parent-physician discordance about prognosis occurred in ≥1 domain in the majority of dyads (n = 28/40, 70%). Discordance was generally moderate in degree (n = 23/28, 82%) and occurred with similar frequency across all domains. Of parent-physician dyads with discordance, the majority contained a difference in understanding in at least 1 domain (n = 25/28, 89%), while a minority contained a difference of belief (n = 6/28, 21%). When discordance was present, parents were typically more optimistic in their predictions compared with physicians (n = 25/28, 89%). CONCLUSIONS: Differing perceptions about the prognosis of critically ill infants are common and due to differences in both understanding and belief. These findings can be used to develop targeted interventions to improve prognostic communication.
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Médicos , Humanos , Lactante , Pronóstico , Padres , Estudios de Cohortes , ComunicaciónRESUMEN
INTRODUCTION: We examined severe maternal morbidity (SMM) among birthing people with opioid use disorder (OUD) and evaluated the extent to which differences in SMM exist by race and ethnicity. METHODS: We performed a retrospective cohort study using hospital discharge data for all Massachusetts births between 2016 and 2020. SMM rates for all SMM indicators, except transfusions, were computed for those diagnosed with and without OUD. Multivariable logistic regression was used to examine the association between OUD and SMM after adjusting for patient and hospital characteristics, including race and ethnicity. RESULTS: Among 324,012 childbirths, the SMM rate was 148 (95% confidence interval [CI]. 115-189) per 10,000 childbirths among birthing people with OUD compared with 88 (95% CI, 85-91) for those without. In adjusted models, both OUD and race/ethnicity were significantly associated with SMM. Birthing people with OUD had 2.12 (95% CI, 1.64-2.75) times the odds of experiencing an SMM event compared with those without. Non-Hispanic Black and Hispanic birthing people were at 1.85 (95% CI, 1.65-2.07) and 1.26 (95% CI, 1.13-1.41) higher odds of experiencing SMM compared with non-Hispanic White birthing people. Among birthing people with OUD, the odds of SMM were not significantly different between birthing people of color and non-Hispanic White individuals. CONCLUSIONS: Birthing people with OUD are at an elevated risk of SMM, underscoring the need for improved access to OUD treatment and increased support. Perinatal quality improvement collaboratives should measure SMM in bundles aimed at improving outcomes for birthing people with OUD.
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Trastornos Relacionados con Opioides , Embarazo , Femenino , Humanos , Estudios Retrospectivos , Trastornos Relacionados con Opioides/epidemiología , Trastornos Relacionados con Opioides/complicaciones , Etnicidad , Massachusetts/epidemiología , BlancoRESUMEN
OBJECTIVE: Workforce characteristics and compensation specific to early career neonatologists remain poorly defined. Lack of transparency surrounding compensation limits benchmarking for neonatologists entering the workforce and may negatively influence individual lifetime earnings. Our objective was to provide granular data for this unique subpopulation by defining employment characteristics and factors influential to compensation of early career neonatologists. STUDY DESIGN: An anonymous 59-question cross-sectional electronic survey was distributed to eligible members of American Academy of Pediatrics Trainees and Early Career Neonatologists. A focused analysis was conducted on salary and bonus compensation data collected from the survey instrument. Respondents were classified based on primary site of employment: nonuniversity located (e.g., private practice, hospital employed, government/military, and hybrid employment groups) versus university located practice settings (e.g., work is primarily conducted in a neonatal intensive care unit (NICU) setting located within a university organization). Median quantile regression was used to conduct univariate and multivariate analyses using SAS Software version 9.4. RESULTS: We received 348 responses (26.7% response rate). Median salary was $220,000 (interquartile range: $200,000-250,000). Factors associated with salary include academic rank (instructor: $196,000; assistant professor: $220,000 [12% increase; p < 0.001]; associate professor: $260,000 [18% increase]; p = 0.027) and years of experience (p = 0.017), after adjusting for relevant factors. Employment location, practice type, group size, clinical schedule, location of medical school training, and gender identity did not significantly influence salary in multivariate quantile regression. Median annual bonus was $7,000 higher for nonuniversity located positions ($20,000 vs. 13,000; p = 0.021), with assumption of additional administrative roles and practice group seniority as most commonly cited bonus criteria (p = 0.002 and <0.001, respectively). CONCLUSION: Academic rank and years of experience may influence salary. Bonus earnings are higher for nonuniversity located positions. Employment models are evolving to incorporate academic teaching appointments while practicing in nonuniversity located NICUs. This is the first detailed compensation analysis of early career neonatologists. KEY POINTS: · Transparent compensation data specific to early career neonatologists is lacking.. · Associated factors influential to compensation of early career neonatologists remain unclear.. · This study identifies years of experience and academic rank as possible factors influencing salary earnings of early career neonatologists.. · Practicing in nonuniversity located positions was associated with greater bonus earning potential..
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BACKGROUND: Toxicology testing is frequently used as a means of gathering objective data about substance use in pregnancy, but little is known about the clinical utility of testing in the peripartum setting. OBJECTIVE: This study aimed to characterize the utility of obtaining maternal-neonatal dyad toxicology testing at the time of delivery. STUDY DESIGN: We performed a retrospective chart review of all deliveries in a single healthcare system in Massachusetts between 2016 and 2020, and identified deliveries with either maternal or neonatal toxicology testing at delivery. An unexpected result was defined as a positive test for a nonprescribed substance that was not known on the basis of clinical history, self-report, or previous toxicology testing within a week of delivery, excluding results for cannabis. We evaluated the characteristics of maternal-infant dyads with unexpected positive results, unexpected positive results by rationale for testing, changes in clinical management after an unexpected positive test, and maternal outcomes in the year after delivery using descriptive statistics. RESULTS: Of the 2036 maternal-infant dyads with toxicology tests performed during the study period, there were 80 (3.9%) with an unexpected positive result. Diagnosis of substance use disorder with active use in the last 2 years was the clinical rationale for testing that yielded the greatest number of unexpected positive results (10.7% of total tests ordered for this rationale). Inadequate prenatal care (5.8%), maternal use of medication for opioid use disorder (3.8%), maternal medical indications such as hypertension or placental abruption (2.3%), history of substance use disorder in remission (1.7%), or maternal cannabis use (1.6%) yielded lower rates of unexpected results compared with a recent substance use disorder (within the last 2 years). Solely on the basis of findings from unexpected test results, 42% of dyads were referred to child protective services, 30% of dyads had no documentation of maternal counseling during delivery hospitalization, and 31% did not receive breastfeeding counseling after an unexpected test; 22.8% had monitoring for neonatal opioid withdrawal syndrome. Postpartum, 26 (32.5%) were referred to substance use disorder treatment, 31 (38.8%) attended a postpartum mental health visit, and only 26 (32.5%) attended a postpartum visit. Fifteen individuals (18.8%) were readmitted in the year after delivery, all for substance-related medical complications. CONCLUSION: Unexpected positive toxicology results at delivery were uncommon, particularly when tests were sent for frequently used clinical rationales for testing, suggesting a need to revisit guidelines surrounding appropriateness of indications for toxicology testing. The poor maternal outcomes in this cohort highlight a missed opportunity for maternal connection to counseling and treatment in the peripartum period.
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Síndrome de Abstinencia Neonatal , Trastornos Relacionados con Opioides , Lactante , Recién Nacido , Niño , Embarazo , Humanos , Femenino , Periodo Periparto , Estudios Retrospectivos , Placenta , Síndrome de Abstinencia Neonatal/diagnóstico , Trastornos Relacionados con Opioides/diagnóstico , Trastornos Relacionados con Opioides/epidemiología , Trastornos Relacionados con Opioides/tratamiento farmacológicoRESUMEN
OBJECTIVES: To describe the characteristics of individuals undergoing toxicology testing at delivery for a sole indication of cannabis use and to evaluate the rate of unexpected positive toxicology testing results among this cohort. METHODS: This retrospective cohort study included dyads with a maternal history of cannabis use who underwent peripartum toxicology testing between 2016 and 2020 at 5 birthing hospitals in Massachusetts. We collected information on maternal demographic characteristics and toxicology test results and reviewed records of dyads with unexpected positive results to identify additional social risk factors and clinical outcomes. RESULTS: Of 60 608 live births reviewed, 1924 dyads underwent toxicology testing, including 614 (31.9%) for a sole indication of cannabis use. Significantly greater percentages of patients in the cannabis cohort were <25 years old (32.4% vs 6.1% of the birthing population, P <.001), non-Hispanic Black (32.4% vs 8.1%, P < .001), Hispanic or Latino (30.5% vs 15.5%), American Indian/Alaskan (0.7% vs 0.1%), and publicly insured (39.9% vs 15.6%, P <.001). Eight of the 614 dyads (1.3%) had an unexpected positive toxicology test result, including 2 (0.3%) unexpectedly positive for opioids. Seven dyads (1.1%) had false positive test results for unexpected substances. Only 1 test result changed clinical management; a urine test positive for opioids prompted monitoring (but not medication) for neonatal opioid withdrawal syndrome. CONCLUSIONS: Toxicology testing of patients for a sole indication of cannabis use, without other risk factors, may be of limited utility in elucidating other substance use and may exacerbate existing disparities in perinatal outcomes.
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Cannabis , Exposición Materna , Trastornos Relacionados con Sustancias , Adulto , Femenino , Humanos , Recién Nacido , Embarazo , Analgésicos Opioides , Hispánicos o Latinos , Estudios RetrospectivosRESUMEN
OBJECTIVE: To evaluate for disparities in peripartum toxicology testing among maternal-infant dyads across a hospital network and subsequent child protective services (CPS) involvement. METHODS: Retrospective chart review of 59,425 deliveries at 5 hospitals in Massachusetts between 2016 and 2020. We evaluated associations between maternal characteristics, toxicology testing, and child welfare involvement with disproportionality risk ratios and hierarchical logistical regression. RESULTS: Toxicology testing was performed on 1959 (3.3%) dyads. Younger individuals and individuals of color were more likely to be tested for cannabis use or maternal medical complications compared to white non-Hispanic individuals. Among those without a substance use disorder, age <25 (adjusted odds ratio [aOR] 2.81; 95% confidence interval [CI], 2.43-3.26), race and ethnicity (non-Hispanic Black (aOR 1.80; 95% CI, 1.52-2.13), Hispanic (aOR 1.23; 95% CI, 1.05-1.45), mixed race/other (aOR 1.40; 95% CI, 1.04, 1.87), unavailable race (aOR 1.92; 95% CI, 1.32-2.79), and public insurance (Medicaid [aOR 2.61; 95% CI, 2.27-3.00], Medicare [aOR 13.76; 95% CI, 9.99-18.91]) had increased odds of toxicology testing compared to older, white non-Hispanic, and privately insured individuals. The disproportionality ratios in testing were greater than 1.0 for individuals under 25 years old (3.8), Hispanic individuals (1.6), non-Hispanic Black individuals (1.8), individuals of other race (1.2), unavailable race (1.8), and individuals with public insurance (Medicaid 2.6; Medicare 10.6). Among dyads tested, race and ethnicity was not associated with CPS involvement. CONCLUSIONS: Peripartum toxicology testing is disproportionately performed on non-white, younger, and poorer individuals and their infants, with cannabis use and medical complications prompting testing more often for patients of color than for white non-Hispanic individuals.
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Medicare , Servicio Social , Anciano , Niño , Humanos , Lactante , Estados Unidos , Adulto , Estudios Retrospectivos , Hospitales , BlancoRESUMEN
OBJECTIVE: Transitioning into the early career physician workforce is a uniquely challenging period in a neonatologist's career. There are limited educational opportunities in fellowship regarding career progression, practice models, and benefits. Understanding these factors are key when searching for employment. This study evaluates the early career neonatologist (ECN) workforce and employment characteristics to improve identification of professional needs. STUDY DESIGN: An anonymous 59-question cross-sectional survey was distributed in July 2020 to members of the American Academy of Pediatrics Section on Neonatal Perinatal Medicine Trainees and Early Career Neonatologists (TECaN). The survey instrument was designed using SurveyMonkey and assessed search methods for identifying employers, employment contract details, and professional duties. Questions addressed clinical service time, level of acuity, protected research time, financial compensation, benefits, job search methods, and promotion requirements. Comparisons were drawn between respondents exclusively working in a university-based setting and respondents employed in nonuniversity locations. Responses were collected using SurveyMonkey and then extracted to a Microsoft Excel Workbook for analysis. Statistical analysis was performed using SAS version 9.4. RESULTS: Of 1,302 eligible members, 348 people responded (26.7%). Forty-six percent of respondents worked in a university setting and 54% worked in a nonuniversity setting. Using employment site as a discriminator, significant differences were noted in scheduling models. University-located respondents were more likely to work 2-week block schedules, fewer weekend/weeknight call, less clinical weeks per year, and more research/administrative weeks per year. Between university and nonuniversity located positions, benefits were largely comparable, while factors perceived as influential toward promotion varied depending on practice site. CONCLUSION: This study provides ECNs with a contemporary workforce description vital to graduating TECaN seeking employment or renegotiating professional obligations. While benefits were largely similar based on practice site, promotion factors and scheduling models may vary depending on location. KEY POINTS: · Data specific to informing employment decisions for graduating Trainees and Early Career Neonatologists are limited.. · This study provides benchmarks for evaluating employment opportunities presented to early career neonatologists.. · Practice site can influence promotion factors..
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BACKGROUND: A positive urine fentanyl toxicology test may have considerable consequences for peripartum individuals, yet the extent to which fentanyl administration in a labor epidural may lead to such a positive test is poorly characterized. OBJECTIVE: This study aimed to quantify the extent to which neuraxial fentanyl in labor neuraxial analgesia can lead to a positive peripartum maternal or neonatal urine toxicology test. STUDY DESIGN: We performed a prospective cohort study of pregnant participants planning a vaginal delivery with neuraxial analgesia. Participants with a history of substance use disorder, hypertension, or renal or liver disease were excluded. A urine sample was collected before initiation of neuraxial analgesia, each time the bladder was emptied during labor, and up to 4 times postpartum. Neonatal urine was collected once. Urine fentanyl testing was performed using 2 common toxicology testing methods, namely immunoassay and liquid chromatography with tandem mass spectrometric detection. RESULTS: A total of 33 maternal-infant dyads yielded a total of 178 urine specimens. All maternal specimens were negative for fentanyl using liquid chromatography with tandem mass spectrometric analysis and immunoassay before initiation of neuraxial analgesia. Intrapartum, 26 of 30 (76.7%) participants had positive liquid chromatography with tandem mass spectrometry results for fentanyl or its metabolites, and 12 of 30 (40%) participants had positive immunoassay results. Postpartum, 19 of 21 (90.5%) participants had positive liquid chromatograph with tandem mass spectrometric results, and 13 of 21 (61.9%) had a positive immunoassay result. Of the 13 neonatal specimens collected, 10 (76.9%) were positive on liquid chromatography with tandem mass spectrometry analysis, the last of which remained positive 29 hours and 50 minutes after delivery. CONCLUSION: Neuraxial fentanyl for labor analgesia may lead to positive maternal and neonatal toxicology tests at various times after epidural initiation and cessation and at different rates depending on the testing method used. Caution should be used in interpreting toxicology test results of individuals who received neuraxial analgesia to avoid false assumptions about nonprescribed use.
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Analgesia Epidural , Trabajo de Parto , Embarazo , Femenino , Recién Nacido , Humanos , Fentanilo , Estudios Prospectivos , Periodo PospartoRESUMEN
BACKGROUND AND OBJECTIVES: Clinicians often communicate complex, uncertain, and distressing information about neurologic prognosis to parents of critically ill infants. Although communication tools have been developed in other disciplines and settings, none address the unique needs of the neonatal and pediatric neurology context. We aimed to develop a parent-informed framework to guide clinicians in communicating information about neurologic prognosis. METHODS: Parents of infants with neurologic conditions in the intensive care unit were enrolled in a longitudinal study of shared decision-making from 2018 to 2020. Parents completed semistructured interviews following recorded family meetings with the health care team, at hospital discharge, and 6 months after discharge. All interviews targeted information about parent preferences for prognostic disclosure. We analyzed the data using a conventional content analysis approach. Two study team members independently coded all interview transcripts, and discrepancies were resolved in consensus. We used NVIVO 12 qualitative software to index and organize codes. RESULTS: Fifty-two parents of 37 infants completed 123 interviews. Parents were predominantly mothers (n = 37/52, 71%) with a median age of 31 (range 19-46) years. Half were Black (n = 26/52, 50%), and a minority reported Hispanic ethnicity (n = 2/52, 4%). Inductive analysis resulted in the emergence of 5 phases of prognostic communication (Approach, Learn, Inform, Give support, and Next steps: ALIGN): (1) Approach: parents appreciated receiving consistent information about their child's neurologic outcome from clinicians who knew their child well. (2) Learn: parents valued when clinicians asked them how they preferred receiving information and what they already knew about their child's outcome prior to information delivery. (3) Inform: parents valued honest, thorough, and balanced information that disclosed prognostic uncertainty and acknowledged room for hope. (4) Give support: parents valued empathic communication and appreciated clinicians who offered real-time emotional support. (5) Next steps: parents appreciated clinicians who connected them to resources, including peer support. DISCUSSION: The ALIGN framework offers a novel, parent-informed strategy to effectively communicate neurologic prognosis. Although ALIGN represents key elements of a conversation about prognosis, each clinician can adapt this framework to their own approach. Future work will assess the effectiveness of this framework on communication quality and prognostic understanding.
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Enfermedades del Sistema Nervioso , Padres , Niño , Recién Nacido , Femenino , Humanos , Lactante , Adulto Joven , Adulto , Persona de Mediana Edad , Pronóstico , Estudios Longitudinales , Investigación Cualitativa , Padres/psicología , Enfermedades del Sistema Nervioso/diagnóstico , Enfermedades del Sistema Nervioso/terapia , ComunicaciónRESUMEN
Background/Objective: Genetic variants in hepatic nuclear factor 1α (HNF1A) cause maturity-onset diabetes of the young (MODY). We sought to examine whether HNF1A MODY variants also cause neonatal hypoglycemia. Case Report: We present 3 infants with variants in HNF1A shared with their mothers. The infants experienced neonatal hypoglycemia, 2 extending beyond 1 year and the third resolving by 28 days, and all were large for gestational age (birth weights of >99th percentile). In 2 cases, genetic testing for neonatal hypoglycemia revealed pathogenic variants in HNF1A; 1 mother was previously diagnosed with HNF1A MODY, and the other's genetic testing and ultimate MODY diagnosis were prompted by her child's hypoglycemia workup. In the third case, the infant's persistent hypoglycemia prompted genetic testing, revealing an HNF1A variant of uncertain significance, which was then identified in the mother. Discussion: Genetic variants causing HNF1A MODY have not been definitively linked to neonatal hypoglycemia or fetal overgrowth in utero. MODY caused by HNF1A is clinically similar to that caused by HNF4A, for which a causal relationship with neonatal hypoglycemia is more certain. Case reports have previously implicated variants in HNF1A in congenital hyperinsulinism; however, these cases have generally not been in families with MODY. The cases presented here suggest that HNF1A variants causing MODY may also cause neonatal hypoglycemia. Conclusion: Although confounding factors make the assessment of neonatal hypoglycemia challenging, these cases offer potential support for single genetic variants in HNF1A causing both MODY and neonatal hypoglycemia, with associated fetal overgrowth in utero.
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OBJECTIVE: We characterize the content and role of prognostic discussion for infants with neurologic conditions. METHODS: In this descriptive qualitative study, we prospectively enrolled infants (age < 1 year) in the intensive care unit with a neurologic condition anticipated to have ≥1 family conference about prognosis or goals of care. We audiorecorded family conferences as they occurred. We used a rapid-cycle qualitative approach to identify and refine themes. RESULTS: Forty infants and 61 parents were enrolled; 68 family conferences occurred for 24 infants. The majority of infant cases (n = 23/24, 96%) and conferences (n = 64/68, 94%) included discussion of neurologic prognosis. Common infant diagnoses included prematurity (n = 12, 52%), genetic conditions (n = 9, 35%), and brain malformations (n = 7, 30%). We identified 2 themes relating to the characterization of the infant's prognosis: (1) predictions of impairment and (2) rationale for prognostic predictions. We identified 3 themes characterizing the role of prognostic discussion: (1) aligning parent and clinician understanding of infant outcome, (2) influencing decision-making, and (3) preparing for life at home. We identified 2 themes characterizing discussion of prognostic uncertainty: (1) multilayered types of uncertainty and (2) holding space for hope alongside uncertainty. INTERPRETATION: In this cohort of infants with neurologic conditions and their parents, we identified salient themes characterizing the content and role of discussion about neurologic outcome. Our findings highlight that prognostic discussion focuses on anticipated impairments, informs decision-making, and helps families prepare for home life. Future work should characterize whether these findings align with parent preferences for prognostic disclosure. ANN NEUROL 2022;92:699-709.
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Padres , Relaciones Profesional-Familia , Familia , Humanos , Lactante , Unidades de Cuidados Intensivos , Pronóstico , Investigación CualitativaRESUMEN
OBJECTIVE: Fetal growth restriction (FGR) is associated with poor neonatal outcomes and stillbirth, and screening via fundal height or ultrasound is routinely performed. During the novel coronavirus disease 2019 (COVID-19) pandemic, we developed a hybrid model of prenatal care which decreased the frequency of in-person visits and incorporated telemedicine visits. We sought to determine if prenatal FGR diagnoses decreased with this hybrid model compared with routine prenatal care. STUDY DESIGN: This was a retrospective cohort study of singleton nonanomalous neonates with birth weights <10th percentile at term. The "routine care" group was consisted of those who born between April and July 2019 with in-person prenatal care, and the "hybrid care" group was consisted of those who born between April and July 2020 with both in-person and telemedicine prenatal cares at a collaborative academic practice. The primary outcome was the rate of diagnosis of small for gestational age (SGA) as defined as infant birth weight <10th percentile without a prenatal diagnosis of FGR. The secondary outcome was timing of diagnosis of FGR. RESULTS: Overall, 1,345 and 1,296 women gave birth in the routine and hybrid groups, respectively. The number of in-person prenatal care visits decreased from 15,024 in the routine period to 7,727 in the hybrid period; 3,265 telemedicine visits occurred during the hybrid period. The total number of prenatal patients remained relatively stable at 3,993 and 3,753 between periods. Third trimester ultrasounds decreased from 2,929 to 2,014 between periods. Birth weights <10 percentile occurred in 115 (8.6%) births during the routine period and 79 (6.1%) births during the hybrid period. Of 115, 44 (38.3%) cases were prenatally diagnosed with FGR in the routine versus 28 of 79 (35.4%) in the hybrid group (p = 0.76). Median gestational age at diagnosis did not vary between groups (36 vs. 37 weeks, p = 0.44). CONCLUSION: A hybrid prenatal care model did not alter the detection of FGR. Future efforts should further explore the benefits of incorporating telemedicine into prenatal care. KEY POINTS: · Telemedicine visits can provide comprehensive prenatal care.. · FGR was diagnosed equally with hybrid versus routine prenatal care.. · FGR diagnosis was not delayed with hybrid care..