CHRNB1-associated congenital myasthenia syndrome: Expanding the clinical spectrum.

CHRNB1 encodes the ß subunit of the acetylcholine receptor (AChR) at the neuromuscular junction. Inherited defects in the neuromuscular junction can lead to congenital myasthenia syndrome (CMS), a clinically and genetically heterogeneous group of disorders which includes fetal akinesia deformation sequence (FADS) on the severe end of the spectrum. Here, we report two unrelated families with biallelic CHRNB1 variants, and in each family, one child presented with lethal FADS. We contrast the diagnostic odysseys in the two families, one of which lasted 16 years while the other, utilizing rapid exome sequencing, led to specific treatment in the first 2 weeks of life. Furthermore, we note that CHRNB1 variants may be under-recognized because in both families, one of the variants is a single exon deletion that has been previously described but may not easily be detected in clinically available genetic testing.

Telehealth Training During the COVID-19 Pandemic: A Feasibility Study of Large Group Multiplatform Telesimulation Training.

Background:Video telehealth is an important tool for health care delivery during the COVID-19 pandemic. Given physical distancing recommendations, access to traditional in-person telehealth training for providers has been limited. Telesimulation is an alternative to in-person telehealth training. Telesimulation training with both remote participants and facilitators using telehealth software has not been described.Objective:We investigated the feasibility of a large group telesimulation provider training of telehealth software for remote team leadership skills with common neonatal cases and procedures.Methods:We conducted a 90-min telesimulation session with a combination of InTouch™ provider access software and Zoom™ teleconferencing software. Zoom facilitators activated InTouch software and devices and shared their screen with remote participants. Participants rotated through skill stations and case scenarios through Zoom and directed bedside facilitators to perform simulated tasks using the shared screen and audio connection. Participants engaged in a debrief and a pre- and postsurvey assessing participants' comfort and readiness to use telemedicine. Data were analyzed using descriptive statistics and paired t tests.Results:Twenty (n = 20) participants, five Zoom and eight bedside facilitators participated. Twenty-one (21) pre- and 16 postsurveys were completed. Most participants were attending neonatologists who rarely used telemedicine software. Postsession, participants reported increased comfort with some advanced InTouch features, including taking and sharing pictures with the patient (p < 0.01) and drawing on the shared image (p < 0.05), but less comfort with troubleshooting technical issues, including audio and stethoscope (p < 0.01). Frequently stated concerns were troubleshooting technical issues during a call (75%, n = 16) and personal discomfort with telemedicine applications and technology (56%, n = 16).Conclusion:Large group telesimulation is a feasible way to offer telehealth training for physicians and can increase provider comfort with telehealth software.

Endotracheal Tube Size Adjustments Within Seven Days of Neonatal Intubation.

BACKGROUND AND OBJECTIVES: Neonatal endotracheal tube (ETT) size recommendations are based on limited evidence. We sought to determine data-driven weight-based ETT sizes for infants undergoing tracheal intubation and to compare these with Neonatal Resuscitation Program (NRP) recommendations. METHODS: Retrospective multicenter cohort study from an international airway registry. We evaluated ETT size changes (downsizing to a smaller ETT during the procedure or upsizing to a larger ETT within 7 days) and risk of procedural adverse outcomes associated with first-attempt ETT size selection when stratifying the cohort into 200 g subgroups. RESULTS: Of 7293 intubations assessed, the initial ETT was downsized in 5.0% of encounters and upsized within 7 days in 1.5%. ETT downsizing was most common when NRP-recommended sizes were attempted in the following weight subgroups: 1000 to 1199 g with a 3.0 mm (12.6%) and 2000 to 2199 g with a 3.5 mm (17.1%). For infants in these 2 weight subgroups, selection of ETTs 0.5 mm smaller than NRP recommendations was independently associated with lower odds of adverse outcomes compared with NRP-recommended sizes. Among infants weighing 1000 to 1199 g: any tracheal intubation associated event, 20.8% with 2.5 mm versus 21.9% with 3.0 mm (adjusted OR [aOR] 0.62, 95% confidence interval [CI] 0.41-0.94); severe oxygen desaturation, 35.2% with 2.5 mm vs 52.9% with 3.0 mm (aOR 0.53, 95% CI 0.38-0.75). Among infants weighing 2000 to 2199 g: severe oxygen desaturation, 41% with 3.0 mm versus 56% with 3.5mm (aOR 0.55, 95% CI 0.34-0.89). CONCLUSIONS: For infants weighing 1000 to 1199 g and 2000 to 2199 g, the recommended ETT size was frequently downsized during the procedure, whereas 0.5 mm smaller ETT sizes were associated with fewer adverse events and were rarely upsized.

Association of full premedication on tracheal intubation outcomes in the neonatal intensive care unit: an observational cohort study.

OBJECTIVE: Evaluate the association of short-term tracheal intubation (TI) outcomes with premedication in the NICU. STUDY DESIGN: Observational single-center cohort study comparing TIs with full premedication (opiate analgesia and vagolytic and paralytic), partial premedication, and no premedication. The primary outcome is adverse TI associated events (TIAEs) in intubations with full premedication compared to those with partial or no premedication. Secondary outcomes included change in heart rate and first attempt TI success. RESULTS: 352 encounters in 253 infants (median gestation 28 weeks, birth weight 1100 g) were analyzed. TI with full premedication was associated with fewer TIAEs aOR 0.26 (95%CI 0.1-0.6) compared with no premedication, and higher first attempt success aOR 2.7 (95%CI 1.3-4.5) compared with partial premedication after adjusting for patient and provider characteristics. CONCLUSION: The use of full premedication for neonatal TI, including an opiate, vagolytic, and paralytic, is associated with fewer adverse events compared with no and partial premedication.

Impact of multiple intubation attempts on adverse tracheal intubation associated events in neonates: a report from the NEAR4NEOS.

OBJECTIVE: To determine the relationship between number of attempts and adverse events during neonatal intubation. STUDY DESIGN: A retrospective study of prospectively collected data of intubations in the delivery room and NICU from the National Emergency Airway Registry for Neonates (NEAR4NEOS) in 17 academic centers from 1/2016 to 12/2019. We examined the association between tracheal intubation attempts [1, 2, and ≥3 (multiple attempts)] and clinical adverse outcomes (any tracheal intubation associated events (TIAE), severe TIAE, and severe oxygen desaturation). RESULTS: Of 7708 intubations, 1474 (22%) required ≥3 attempts. Patient, provider, and practice factors were associated with higher TI attempts. Increasing intubation attempts was independently associated with a higher risk for TIAE. The adjusted odds ratio for TIAE and severe oxygen desaturation were significantly higher in TIs with 2 and ≥3 attempts than with one attempt. CONCLUSION: The risk of adverse safety events during intubation increases with the number of intubation attempts.

Interprofessional ECMO telerounding: a novel approach to neonatal ECMO clinical participation and education.

OBJECTIVE: Determine the feasibility, strengths, and barriers of offering extracorporeal membrane oxygenation (ECMO) telerounding to neonatal intensive care unit (NICU) care providers. STUDY DESIGN: NICU providers were invited to join ECMO rounds by teleconference. Data were collected on telerounding participation and ECMO concepts discussed. A survey was sent to all providers. RESULTS: From March 2018 to February 2020, telerounding on 24 neonatal ECMO patients (168 ECMO days) was performed in a Level IV NICU. A mean of four providers joined telerounds per ECMO day with an increase from 3 to 6 providers over the study period. Nearly all respondents felt telerounding lowered barriers to attending ECMO rounds (94%), promoted engagement (89%), and improved continuity of care (78%). Barriers to ECMO telerounding were suboptimal audio connections and limited ability to participate in the clinical discussion. CONCLUSION: ECMO telerounding is well-received by NICU providers. It can improve provider participation, complement existing in-person ECMO rounds, and ECMO education.

Associations of Stylet Use during Neonatal Intubation with Intubation Success, Adverse Events, and Severe Desaturation: A Report from NEAR4NEOS.

INTRODUCTION: Intubations are frequently performed procedures in neonatal intensive care units (NICU) and delivery rooms (DR). Unsuccessful first attempts are common as are tracheal intubation-associated events (TIAEs) and severe desaturations. Stylets are often used during intubation, but their association with intubation outcomes is unclear. OBJECTIVE: To compare intubation success, rate of relevant TIAEs, and severe desaturations in neonates intubated with and without stylets. METHODS: Tracheal intubations of neonates in the NICU or DR from 16 centers between October 2014 and December 2018, performed by neonatology or pediatric providers, were collected from the NEAR4NEOs international registry. Primary oral intubations with a laryngoscope were included in the analysis. First-attempt success, the occurrence of relevant TIAEs, and severe oxygen desaturation (≥20% saturation drop from baseline) were compared between intubations performed with versus without a stylet. Logistic regression with generalized estimate equations was used to control for covariates and clustering by sites. RESULTS: Out of 5,292 primary oral intubations, 3,877 (73%) utilized stylets. Stylet use varied considerably across the centers with a range between 0.5 and 100%. Stylet use was not associated with first-attempt intubation success, esophageal intubation, mainstem intubation, or severe desaturations after controlling for confounders. Patient size was associated with these outcomes and much more predictive of success. CONCLUSIONS: Stylet use during neonatal intubation was not associated with higher first-attempt intubation success, fewer relevant TIAEs, or less severe desaturations. These data suggest that stylets can be used based on individual preference, but stylet use may not be associated with better intubation outcomes.

Associations between family presence and neonatal intubation outcomes: a report from the National Emergency Airway Registry for Neonates: NEAR4NEOS.

OBJECTIVE: Describe the current practice of family presence during neonatal tracheal intubations (TIs) across neonatal intensive care units (NICUs) and examine the association with outcomes. DESIGN: Retrospective analysis of TIs performed in NICUs participating in the National Emergency Airway Registry for Neonates (NEAR4NEOS). SETTING: Thirteen academic NICUs. PATIENTS: Infants undergoing TI between October 2014 and December 2017. MAIN OUTCOME MEASURES: Association of family presence with TI processes and outcomes including first attempt success (primary outcome), success within two attempts, adverse TI-associated events (TIAEs) and severe oxygen desaturation ≥20% from baseline. RESULTS: Of the 2570 TIs, 242 (9.4%) had family presence, which varied by site (median 3.6%, range 0%-33%; p<0.01). Family member was more often present for older infants and those with chronic respiratory failure. Fewer TIs were performed by residents when family was present (FP 10% vs no FP 18%, p=0.041). Among TIs with family presence versus without family presence, the first attempt success rate was 55% vs 49% (p=0.062), success within two attempts was 74% vs 66% (p=0.014), adverse TIAEs were 18% vs 20% (p=0.62) and severe oxygen desaturation was 49% vs 52%, (p=0.40). In multivariate analyses, there was no independent association between family presence and intubation success, adverse TIAEs or severe oxygen desaturation. CONCLUSION: Family are present in less than 10% of TIs, with variation across NICUs. Even after controlling for important patient, provider and site factors, there were no significant associations between family presence and intubation success, adverse TIAEs or severe oxygen desaturation.

Resuscitation Opportunities for Fellows of Very Low Birth Weight Infants in the Vermont Oxford Network.

BACKGROUND: Neonatal-perinatal medicine (NPM) fellowship programs must provide adequate delivery room (DR) experience to ensure that physicians can independently provide neonatal resuscitation to very low birth weight (VLBW) infants. The availability of learning opportunities is unknown. METHODS: The number of VLBW (≤1500 g) and extremely low birth weight (ELBW) (<1000 g) deliveries, uses of continuous positive airway pressure, intubation, chest compressions, and epinephrine over 3 years at accredited civilian NPM fellowship program delivery hospitals were determined from the Vermont Oxford Network from 2012 to 2017. Using Poisson distributions, we estimated the expected probabilities of fellows experiencing a given number of cases over 3 years at each program. RESULTS: Of the 94 NPM fellowships, 86 programs with 115 delivery hospitals and 62 699 VLBW deliveries (28 703 ELBW) were included. During a 3-year fellowship, the mean number of deliveries per fellow ranged from 14 to 214 (median: 60) for VLBWs and 7 to 107 (median: 27) for ELBWs. One-half of fellows were expected to see ≤23 ELBW deliveries and 52 VLBW deliveries, 24 instances of continuous positive airway pressure, 23 intubations, 2 instances of chest compressions, and 1 treatment with epinephrine. CONCLUSIONS: The number of opportunities available to fellows for managing VLBW and ELBW infants in the DR is highly variable among programs. Fellows' exposure to key, high-risk DR procedures such as cardiopulmonary resuscitation is low at all programs. Fellowship programs should track fellow exposure to neonatal resuscitations in the DR and integrate supplemental learning opportunities. Given the low numbers, the number of new and existing NPM programs should be considered.