An algorithm to identify patients aged 0-3 with rare genetic disorders.

BACKGROUND: With over 7000 Mendelian disorders, identifying children with a specific rare genetic disorder diagnosis through structured electronic medical record data is challenging given incompleteness of records, inaccurate medical diagnosis coding, as well as heterogeneity in clinical symptoms and procedures for specific disorders. We sought to develop a digital phenotyping algorithm (PheIndex) using electronic medical records to identify children aged 0-3 diagnosed with genetic disorders or who present with illness with an increased risk for genetic disorders. RESULTS: Through expert opinion, we established 13 criteria for the algorithm and derived a score and a classification. The performance of each criterion and the classification were validated by chart review. PheIndex identified 1,088 children out of 93,154 live births who may be at an increased risk for genetic disorders. Chart review demonstrated that the algorithm achieved 90% sensitivity, 97% specificity, and 94% accuracy. CONCLUSIONS: The PheIndex algorithm can help identify when a rare genetic disorder may be present, alerting providers to consider ordering a diagnostic genetic test and/or referring a patient to a medical geneticist.

Late preterm antenatal corticosteroids in singleton and twin gestations: a retrospective cohort study.

BACKGROUND: In 2016, the American College of Obstetricians and Gynecologists recommended antenatal corticosteroids in the late preterm period for women at risk for preterm delivery. Limited real-world evidence exists on neonatal outcomes, particularly for twin gestations, following the guideline change. The study objective is to determine the association of antenatal corticosteroids in late preterm singleton and twin pregnancies with respiratory complications and hypoglycemia in a real-world clinical setting. METHODS: This is a retrospective cohort study comprising late preterm deliveries (4,341 mother-child pairs) within the Mount Sinai Health System, 2012-2018. The exposure of interest is antenatal corticosteroid administration of betamethasone during pregnancy between 34 0/7 and 36 6/7 weeks. Our primary outcomes are neonatal respiratory complications and hypoglycemia. Multivariable logistic regression was used to estimate the association between antenatal corticosteroid exposure and these two outcomes. We stratified the study population by singleton gestations and twins to minimize the potential confounding from different obstetric management between the two groups. RESULTS: Among a total of 4,341 mother-child pairs (3,309 singleton and 1,032 twin mother-child pairs), 745 mothers received betamethasone, of which 40.94% (305/745) received the full course. Relative to no treatment, a full course of betamethasone was associated with reduced odds of respiratory complications (OR = 0.53, 95% CI:[0.31-0.85], p < 0.01) and increased odds of hypoglycemia (OR = 1.86, 95%CI:[1.34-2.56], p < 0.01) in singletons; however, the association with respiratory complications was not significant in twins (OR = 0.42, 95% CI:[0.11-1.23], p = 0.16), but was associated with increased odds of hypoglycemia (OR = 2.18, 95% CI:[1.12-4.10], p = 0.02). A partial course of betamethasone (relative to no treatment) was not significantly associated with any of the outcomes, other than respiratory complications in twins (OR = 0.34, 95% CI:[0.12-0.82], p = 0.02). CONCLUSIONS: Exposure to antenatal corticosteroids in singletons and twins is associated with increased odds of hypoglycemia. Among singletons, exposure to the full dosage (i.e. two doses) was associated with decreased odds of respiratory complications but this was only the case for partial dose among twins. Twin gestations were not studied by the Antenatal Late Preterm Steroids trial. Therefore, our study findings will contribute to the paucity of evidence on the benefit of antenatal corticosteroids in this group. Health systems should systematically monitor guideline implementations to improve patient outcomes.

Pediatricians Support Initiation of Asthma Controller Medications in the Emergency Department: A National Survey.

OBJECTIVES: Although National Asthma Guidelines recommend that emergency department (ED) physicians consider initiating controller medications, research suggests that this practice occurs infrequently. The goal of this study was to assess primary care pediatricians' (PCP) beliefs and attitudes regarding ED initiation of controller medications for children with persistent asthma symptoms. METHODS: This was a cross-sectional mail survey of a randomly selected national sample of pediatricians from the American Academy of Pediatrics. The survey posed questions regarding beliefs, barriers, and support for national guideline recommendations. RESULTS: Eight hundred eighty-six (44.3%) of 2000 subjects responded. Five hundred seventy-two (64.5%) respondents met eligibility for analysis. When presented with a vignette of a child with persistent asthma, 476 (83%) of PCPs felt it was appropriate for the ED physician to initiate controller medications. Most (80%) PCPs supported the national guideline recommendation, although a similar proportion reported they have never or rarely experienced this practice before. Only 11% opposed the practice in all circumstances. Beliefs supporting this practice included the following: opportunity to capture patients lost to follow-up (85%), reinforcement of daily use of controller medications (83%), and controller medication may shorten an acute exacerbation (53%). Barriers included lack of time for education in ED (65%), reinforcement of ED use for primary care (64%), lack of PCP communication (62%), and inability to assess severity appropriately (41%). Most (90%) PCPs expect communication from the ED provider. CONCLUSIONS: A majority of pediatricians support the practice of ED physicians initiating controller medication during an acute visit for asthma. Communication with the PCP, appropriate screening of severity, and education about controller medications were important considerations expressed by these providers.