Purpose By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS). Methods We used a multistep process, beginning with a Delphi method involving global experts and subsequently involving non-NF experts, patients, and foundations/patient advocacy groups. Results We reached consensus on the minimal clinical and genetic criteria for diagnosing and differentiating NF1 and LGSS, which have phenotypic overlap in young patients with pigmentary findings. Criteria for the mosaic forms of these conditions are also recommended. Conclusion The revised criteria for NF1 incorporate new clinical features and genetic testing, whereas the criteria for LGSS were created to differentiate the two conditions. It is likely that continued refinement of these new criteria will be necessary as investigators (1) study the diagnostic properties of the revised criteria, (2) reconsider criteria not included in this process, and (3) identify new clinical and other features of these conditions. For this reason, we propose an initiative to update periodically the diagnostic criteria for NF1 and LGSS.

Objective To derive, cross validate, and externally validate a clinical prediction model that assesses the risks of different serious bacterial infections in children with fever at the emergency department.Design Prospective observational diagnostic study.Setting Three paediatric emergency care units: two in the Netherlands and one in the United Kingdom.Participants Children with fever, aged 1 month to 15 years, at three paediatric emergency care units: Rotterdam (n=1750) and the Hague (n=967), the Netherlands, and Coventry (n=487), United Kingdom. A prediction model was constructed using multivariable polytomous logistic regression analysis and included the predefined predictor variables age, duration of fever, tachycardia, temperature, tachypnoea, ill appearance, chest wall retractions, prolonged capillary refill time (>3 seconds), oxygen saturation <94%, and C reactive protein.Main outcome measures Pneumonia, other serious bacterial infections (SBIs, including septicaemia/meningitis, urinary tract infections, and others), and no SBIs.Results Oxygen saturation <94% and presence of tachypnoea were important predictors of pneumonia. A raised C reactive protein level predicted the presence of both pneumonia and other SBIs, whereas chest wall retractions and oxygen saturation <94% were useful to rule out the presence of other SBIs. Discriminative ability (C statistic) to predict pneumonia was 0.81 (95% confidence interval 0.73 to 0.88); for other SBIs this was even better: 0.86 (0.79 to 0.92). Risk thresholds of 10% or more were useful to identify children with serious bacterial infections; risk thresholds less than 2.5% were useful to rule out the presence of serious bacterial infections. External validation showed good discrimination for the prediction of pneumonia (0.81, 0.69 to 0.93); discriminative ability for the prediction of other SBIs was lower (0.69, 0.53 to 0.86).Conclusion A validated prediction model, including clinical signs, symptoms, and C reactive protein level, was useful for estimating the likelihood of pneumonia and other SBIs in children with fever, such as septicaemia/meningitis and urinary tract infections.

Objective: To evaluate feasibility, internal consistency, test-retest reliability, and concurrent and discriminative validity of the Infant and Toddler Quality of Life Questionnaire (ITQOL) for parents of pre-school children with 12 scales (103-items) covering physical and psychosocial domains and impact of child health on parents, in comparison with the TNO-AZL Pre-school Children Quality of Life Questionnaire (TAP-QOL). Methods: Parents of children from a random general population sample (2 months-4 years old; n = 500) and of an outpatient clinic sample of children with respiratory disease (5 months-5 1 2 years old; n = 217) were mailed ITQOL and TAPQOL questionnaires; a retest was sent after two weeks. Results: Feasibility: The response was ‡80% with few missing and non-unique ITQOL-answers (<2%) in both study populations. Some ITQOL-scales (3-4 scales) showed a ceiling effect (>25% at maximum score). Internal consistency: All Cronbach's a >0.70. Test-retest Intraclass Correlation Coefficients (ICCs) were moderate or adequate ( ‡0.50; p < 0.01) for 10 ITQOL-scales. Validity: ITQOL-scales, with a few exceptions, correlated better with predefined parallel TAPQOL scales than with non-parallel scales. Five to eight ITQOL-scales discriminated clearly between children with few and with many parent-reported chronic conditions, between children with and without doctor-diagnosed respiratory disease and with a low and a high parent-reported medical consumption (p < 0.05). Conclusions: This study supported the evidence that the ITQOL is a feasible instrument with adequate psychometric properties. The study provided reference ITQOL scores for gender/age subgroups. We recommend repeated evaluations of the ITQOL in varied populations, especially among very young children, including repeated assessments of test-retest characteristics and evaluations of responsiveness to change. We recommend developing and evaluating a shortened ITQOL version.

WHAT'S KNOWN ON THIS SUBJECT: Pediatric early warning scores (PEWS) for hospital inpatients have been developed to identify patients at risk for deterioration. Beyond triage, similar systems that identify ill patients and predict requirements for a higher level of care are needed in the emergency department. WHAT THIS STUDY ADDS:The validity of the different PEWS in pediatric emergency care patients has never been evaluated. This study showed that PEWS are capable of detecting children in need of ICU admission. abstract OBJECTIVE: Pediatric early warning scores (PEWS) are being advocated for use in the emergency department (ED). The goal of this study was to compare the validity of different PEWS in a pediatric ED. METHODS:Ten different PEWS were evaluated in a large prospective cohort. We included children aged ,16 years who had presented to the ED of a university hospital in The Netherlands (200922012). The validity of the PEWS for predicting ICU admission or hospitalization was expressed by the area under the receiver operating characteristic (ROC) curves.RESULTS: These PEWS were validated in 17 943 children. Two percent of these children were admitted to the ICU, and 16% were hospitalized. The areas under the ROC curves for predicting ICU admission, ranging from 0.60 (95% confidence interval [CI]: 0.5720.62) to 0.82 (95% CI: 0.79-0.85), were moderate to good. The area under the ROC curves for predicting hospitalization was poor to moderate (range: 0.56 [95% CI: 0.55-0.58] to 0.68 [95% CI: 0.66-0.69]). The sensitivity and specificity derived from the ROC curves ranged widely for both ICU admission (sensitivity: 61.3%-94.4%; specificity: 25.2%-86.7%) and hospital admission (sensitivity: 36.4%-85.7%; specificity: 27.1%-90.5%). None of the PEWS had a high sensitivity as well as a high specificity.CONCLUSIONS: PEWS can be used to detect children presenting to the ED who are in need of an ICU admission. Scoring systems, wherein the parameters are summed to a numeric value, were better able to identify patients at risk than triggering systems, which need 1 positive parameter. Pediatrics 2013;132:e841-e850