Intellectual Functioning of Children With Isolated PRS, PRS-Plus, and Syndromic PRS.

OBJECTIVE: Describe the intelligence quotient (IQ) of children with Pierre Robin sequence (PRS). DESIGN: Prospective cohort study. SETTING: Neurodevelopmental follow-up clinic within a hospital. PATIENTS: Children with PRS (n = 45) who had been in the Neonatal Intensive Care Unit (NICU) were classified by a geneticist into 3 subgroups of isolated PRS (n = 20), PRS-plus additional medical features (n = 8), and syndromic PRS (n = 17) based on medical record review and genetic testing. MAIN OUTCOME MEASURE: Children with PRS completed IQ testing at 5 or 8 years of age with the Wechsler Preschool and Primary Scale of Intelligence, Third Edition (WPPSI-III) or Fourth Edition (WPPSI-IV) or the Wechsler Intelligence Scale for Children, Fourth Edition (WISC-IV) or Fifth Edition (WISC-V). RESULTS: IQ scores were more than 1 to 2 standard deviations below the mean for 36% of the overall sample, which was significantly greater compared to test norms (binomial test P = .001). There was a significant association between PRS subtype and IQ (Fisher's exact P = .026). While only 20% of children with isolated PRS were within 1 standard deviation below average and 35% of children with syndromic PRS were below 1 to 2 standard deviations, 75% of PRS-plus children scored lower than 1 to 2 standard deviations below the mean. CONCLUSION: PRS subgroups can help identify children at risk for cognitive delay. The majority of children with PRS-plus had low intellectual functioning, in contrast to the third of children with syndromic PRS who had low IQ and the majority of children with isolated PRS who had average or higher IQ.

Predictors of Mortality after Primary Discharge from Hospital in Patients with Esophageal Atresia.

OBJECTIVE: To describe esophageal atresia mortality rates and their associations in our cohort. STUDY DESIGN: Patients with esophageal atresia, managed at The Royal Children's Hospital, Melbourne (1980-2018), who subsequently died, were retrospectively identified from the prospective Nate Myers Oesophageal Atresia database. Data collected included patient and maternal demographics, vertebral anomalies, anorectal malformations, cardiovascular anomalies, tracheoesophageal fistula, renal anomalies, and limb defects (VACTERL) associations, mortality risk factors, and preoperative, operative, and postoperative findings. Mortality before discharge was defined as death during the initial admission. RESULTS: A total of 88 of the 650 patients (13.5%) died during the study period; mortality before discharge occurred in 66 of the 88 (75.0%); mortality after discharge occurred in 22 of the 88 (25.0%). Common causes of mortality before discharge were palliation for respiratory anomalies (15/66 [22.7%]), associated syndromes (11/66 [16.7%]), and neurologic anomalies (10/66 [15.2%]). The most common syndrome leading to palliation was trisomy 18 (7/66 [10.6%]). Causes of mortality after discharge had available documentation for 17 of 22 patients (77.3%). Common causes were respiratory compromise (6/17 [35.3%]), sudden unexplained deaths (6/17 [35.3%]), and Fanconi anemia (2/17 [11.8%]). Of the patients discharged from hospital, 22 of 584 (3.8%) subsequently died. There was no statistical difference in VACTERL association between mortality before discharge (31/61 [50.8%]) and mortality after discharge (11/20 [55.0%]), nor in incidence of twins between mortality before discharge (8/56 [14.3%]) and mortality after discharge (2/18 [11.1%]). CONCLUSIONS: We identified predictors of mortality in patients with esophageal atresia in a large prospective cohort. Parents of children with esophageal atresia must be counselled appropriately as to the likelihood of death after discharge from hospital.

Implementation of NAP4 emergency airway management recommendations in a quaternary-level pediatric hospital.

Emergency airway management, particularly outside of the operating room, is associated with a high incidence of life-threatening adverse events. Based on the recommendations of the 4th National Audit Project, we aimed to develop hospital-wide systems changes to improve the safety of emergency airway management. We describe a framework for governance in the form of a hospital airway special interest group. We describe the development and implementation of the following systems changes: 1. A local intubation algorithm modified from the Difficult Airway Society's plan A-B-C-D approach, including clear pathways for airway escalation, and emphasizing the concepts of resuscitation prior to intubation, planning for failure, and avoidance of fixation error. 2. Simplified and standardized airway equipment located in identical airway carts in all critical care areas. 3. A preintubation checklist and equipment template to standardize preparation for airway management. 4. Availability of continuous waveform endtidal capnography in all critical care areas for confirmation of correct endotracheal tube placement. 5. Multidisciplinary team training to address the technical and nontechnical aspects of nonoperating room intubation. In addition, we describe methodology for ongoing monitoring of performance through a quality assurance framework. In conclusion, changes in the process of emergency airway management at a hospital level are feasible through collaboration. Their impact on patient-based outcomes requires further study.

Indicators of optimal lung volume during high-frequency oscillatory ventilation in infants.

OBJECTIVES: During high-frequency oscillatory ventilation, an understanding of the relationship between lung volume and lung mechanics may help clinicians better apply ventilation. The objectives of this study were: 1) to describe the relationship between lung volume and lung function parameters during mapping of the deflation limb of the pressure-volume relationship in infants receiving high-frequency oscillatory ventilation, and 2) to determine whether these parameters might be useful in targeting an optimal volume to apply ventilation. DESIGN: Observational physiological study. SETTING: Tertiary neonatal intensive care unit in a pediatric hospital. PATIENTS: Fifteen infants receiving high-frequency oscillatory ventilation and muscle relaxants. INTERVENTIONS: The deflation limb of the pressure-volume relationship was mapped in each infant, after recruitment to total lung capacity, using stepwise airway pressure decrements. Total lung capacity and closing volume were defined by oxygenation response. MEASUREMENTS AND MAIN RESULTS: Lung volume (respiratory inductive plethysmography), oxygen saturation, transcutaneous carbon dioxide, and indicators of lung mechanics were recorded at each pressure. A distinct bell-shaped relationship between lung volume and carbon dioxide, minute ventilation, and tidal volume (both at airway opening and by inductive plethysmography) could be identified on the deflation limb, with an improvement of 21.6 mm Hg (CO2), 168 mL/sec (minute ventilation), 0.25 mL/kg (airway opening tidal volume), and 13.7% (plethysmography tidal volume) compared with total lung capacity levels. The mean (SD) optimal volumes and pressures for these parameters were significantly lower than total lung capacity, occurring at volumes between 38.6 (39.8)% and 62.8 (31.1)% of total lung capacity, and 28 (36.3)% and 41.3 (38.7)% of pressure at total lung capacity (p < 0.05; Bonferroni post-test). These coincided with the lowest pressure and volumes that maintained the oxygenation benefit of recruitment. CONCLUSIONS: Transcutaneous carbon dioxide, tidal volume, and minute ventilation may assist in refining strategies to identify optimal lung volume.

The neonatal airway.

Safe and effective management of the neonatal airway requires knowledge, teamwork, preparation and experience. At baseline, the neonatal airway can present significant challenges to experienced neonatologists and paediatric anaesthesiologists, and increased difficulty can be due to anatomical abnormalities, physiological instability or increased situational stress. Neonatal airway obstruction is under recognised, and should be considered an emergency until the diagnosis and physiological implications are understood. When multiple types of difficulties are present or there are multiple levels of anatomical obstruction, the challenge increases exponentially. In these situations, preparation, multi-disciplinary teamwork and a consistent hospital-wide approach will help to reduce errors and morbidity.

Infant Mandibular Distraction for Upper Airway Obstruction: A Clinical Audit.

BACKGROUND: Mandibular distraction osteogenesis (MDO) is an effective method of treating upper airway obstruction (UAO) in micrognathic infants. The short-term outcomes include relief of UAO, avoidance of tracheostomy, and prompt discharge from hospital. However, it is a significant surgical procedure with potential associated morbidities. This study describes a cohort of infants managed using MDO over a twelve-year period. METHODS: A retrospective chart review was undertaken for children who had MDO before the age of 5 years between 2000 and 2012. This was followed by a clinical review of the same cohort specifically looking for dental anomalies, nerve injuries, and scar cosmesis. RESULTS: Seventy-three children underwent MDO at a mean age of 2 months [interquartile range (IQR), 1.7-4.2] for nonsyndromic infants and 3.3 months (IQR, 2.1-7.4) for those with syndromes. Infants were discharged from hospital, on average, 15 days after procedure. After MDO, of the 9 who were previously tracheostomy dependent, 5 (56%) were decannulated within 12 months and none of the nontracheostomy-dependent children required further airway assistance. The majority of children required supplemental feeding preoperatively but, 12 months postoperatively, 97% of the nonsyndromic infants fed orally. Thirty-nine children (53%) were reviewed clinically [median age, 5.1 y (IQR, 3.9-6.5)] with 18 being syndromic. Many of the mandibular first permanent and second primary molars had developmental defects, but there was a low rate of neurosensory deficit and good scar cosmesis. CONCLUSIONS: This study contributes further to the evidence base underpinning the management of micrognathic infants with UAO.

Successful subcutaneous glucagon use for persistent hypoglycaemia in congenital hyperinsulinism.

Abstract Congenital hyperinsulinism (CHI) results from inappropriate excessive insulin secretion by the beta cells in the pancreas. A wide clinical spectrum of disease exists and a genetic diagnosis is now possible for approximately 50% of affected children. We describe a patient with atypical diffuse CHI caused by mosaic ABCC8 mutation inheritance, unmasked by paternal uniparental disomy. Hypoglycaemia persisted despite two subtotal pancreatectomies and trials of diazoxide and nifedipine were unsuccessful. Octreotide resulted in anaphylaxis, precluding its use. Continuous subcutaneous glucagon infusion was successful in restoring normoglycaemia and attenuating weight gain, with concomitant improvement of developmental milestones. No adverse effects have been encountered after >12 months of therapy. Administration problems (e.g., line crystallisation) may complicate continuous glucagon therapy; hence a practical description of infusion constitution is included. We recommend consideration of continuous subcutaneous glucagon infusion as a therapeutic option for persistent refractory hypoglycaemia in CHI.

Comparison of four methods of lung volume recruitment during high frequency oscillatory ventilation.

PURPOSE: To compare four methods of volume recruitment upon initiation of high frequency oscillatory ventilation (HFOV). METHODS: Anesthetized intubated neonatal piglets (n = 10) underwent repeated saline lavage, followed by conventional mechanical ventilation (CMV). After transition to HFOV at a mean airway pressure 8 cmH2O above CMV (P(basal)), four methods of lung volume recruitment were tested in each animal in random order: Escalating--step-wise pressure increments over 6 min to a peak mean airway pressure 12 cmH2O above P(basal); Sustained dynamic inflation (DI)--a 20 s inflation to the same peak pressure; DI repeated six times for 1 s; Standard--mean airway pressure set directly at P(basal). After each recruitment method, HFOV continued at P(basal) for 15 min. Thoracic gas volume and distribution of aeration were determined by single slice computed tomography, and oxygenation by arterial blood gas sampling. RESULTS: Escalating recruitment resulted in the greatest thoracic gas volume 15 min post recruitment [77 +/- 3.3% of total lung capacity vs. 70 +/- 4.2% (Sustained DI), 65 +/- 3.5% (Repeated DI),63 +/- 5.1% (Standard); mean +/- SEM; P = 0.042, ANOVA]. All methods resulted in a reduction in non-aerated lung, with the greatest redistribution to normally aerated lung being with Escalating recruitment. Oxygenation 15 min post recruitment was better with the Escalating method than with Repeated DI or Standard recruitment (pO2 307 +/- 41 vs. 159 +/- 36 vs. 134 +/- 39 mmHg, respectively; P = 0.016, ANOVA). CONCLUSIONS: Escalating recruitment produced the greatest increase in lung volume and resolution of atelectasis, and is recommended for lung volume recruitment upon initiation of HFOV.

Trends in use and outcome of newborn infants treated with high frequency ventilation in Australia and New Zealand, 1996-2003.

AIM: To examine the use of high frequency ventilation (HFV) to treat newborn infants in Australia and New Zealand and the associated complications and outcomes. METHODS: Data for all infants receiving HFV were collected from the 28 neonatal intensive care units contributing to the Australian and New Zealand Neonatal Network database between 1996 and 2003, inclusive. For comparison, the same data were gathered on all infants who received conventional mechanical ventilation (CMV) and nasal continuous positive airway pressure. RESULTS: HFV was used to treat 3270 infants (10.1% of all ventilated infants) between 1996 and 2003; uptake doubled during this period from 5.9% to 12.6% of ventilated infants per year. HFV was most frequently applied in the context of extreme prematurity (29.9% of ventilated infants <26 weeks gestation). HFV is being increasingly used to treat complex diseases such as meconium aspiration syndrome and congenital diaphragmatic hernia (12.2% and 10.6% in 1996 to 25.2% and 48.4% in 2003, respectively, chi2 -test for trend, P<0.001). Infants receiving HFV spent longer on respiratory support than infants treated with CMV (median 21 days compared with 7 days, Mann-Whitney test P<0.001) and required a higher initial FiO2 (median 0.8 compared to 0.5, Mann-Whitney test, P<0.001). The use of HFV was associated with a higher mortality than CMV and nasal continuous positive airway pressure (39.7%, 10.1% and 0.4%, chi2 -test, P<0.001). The incidence of death and intraventricular haemorrhage decreased over time in the HFV group (chi2 -test for trend, P<0.001 and P=0.02 respectively). CONCLUSION: HFV is an established mode of neonatal ventilation in Australia and New Zealand. HFV is being applied to infants at the greatest risk of serious adverse outcomes, most likely as a rescue therapy.

The deflation limb of the pressure-volume relationship in infants during high-frequency ventilation.

RATIONALE: The importance of applying high-frequency oscillatory ventilation with a high lung volume strategy in infants is well established. Currently, a lack of reliable methods for assessing lung volume limits clinicians' ability to achieve the optimum volume range. OBJECTIVES: To map the pressure-volume relationship of the lung during high-frequency oscillatory ventilation in infants, to determine at what point ventilation is being applied clinically, and to describe the relationship between airway pressure, lung volume, and oxygenation. METHODS: In 12 infants, a partial inflation limb and the deflation limb of the pressure-volume relationship were mapped using a quasi-static lung volume optimization maneuver. This involved stepwise airway pressure increments to total lung capacity, followed by decrements until the closing pressure of the lung was identified. MEASUREMENTS AND MAIN RESULTS: Lung volume and oxygen saturation were recorded at each airway pressure. Lung volume was measured using respiratory inductive plethysmography. A distinct deflation limb could be mapped in each infant. Overall, oxygenation and lung volume were improved by applying ventilation on the deflation limb. Maximal lung volume and oxygenation occurred on the deflation limb at a mean airway pressure of 3 and 5 cm H(2)O below the airway pressure approximating total lung capacity, respectively. CONCLUSIONS: Using current ventilation strategies, all infants were being ventilated near the inflation limb. It is possible to delineate the deflation limb in infants receiving high-frequency oscillatory ventilation; in doing so, greater lung volume and oxygenation can be achieved, often at lower airway pressures.