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The case of a two-year-old girl finally diagnosed with haemolytic uremic syndrome is described.

This study investigated sex and age differences in autistic behaviours in children with neurofibromatosis type 1 (NF1) who scored within the clinical range on the Social Responsiveness Scale - Second Edition (T score ≥ 60). Thirty-four males and 28 females (3-16 years) were assessed with the Autism Diagnostic Observation Schedule - Second Edition and Autism Diagnostic Interview - Revised. Across both measures, males exhibited greater social communication deficits relative to females. Age-related abatement of social communication difficulties was observed for males but not females. Conversely, no sex differences were found for restricted/repetitive behaviours, which were stable over time for both males and females. The findings are discussed within the context of broader neurodevelopmental considerations that are common in NF1.

Objectives: Kawasaki disease (KD) is the most frequent cause of acquired heart disease in children in high-income countries because of coronary artery involvement. Risk factors for coronary lesions can vary in consideration of different genetic background and environmental factors. Methods: Multicenter retrospective and prospective study including 372 consecutive children (58% boys; mean age 34.3 ± 30.3 months, Caucasian 85%) was diagnosed with KD. We divided the cohort into 2 groups according to the presence of coronary anomalies (CAA) and aneurysms. We compared the groups and studied the risk factors for CAA and for aneurysms, the most severe lesions. Results: Children with CAA were 91/372 (24.46%, aneurysms 20/372, 5.37%). Children with CAA were more likely to have a longer duration of fever (p < 0.001), later day of treatment (p < 0.001), to be IVIG non-responders and late treated (p < 0.001), while age, clinical presentation, and seasonality were not different. They also had significantly higher WBC and neutrophils, lower lymphocytes, Hb and Na during the acute stage, and slower resolution of inflammation. Age, IVIG unresponsiveness, and presence of non-coronary cardiac findings were independent risk factors for CAA and for aneurysms, while neutrophils just for CAA. Age under 6 months was a risk factor for the aneurysm. Aneurysms occurred more frequently in the first quartile of the age of KD onset (under 14 months). Conclusion: Very young children with non-coronary cardiac findings are at increased risk for a more severe form of KD with aneurysms. These children could benefit from adjunctive therapy beside IVIG, especially if they have higher markers of inflammation, particularly neutrophils.Key points• Risk factors for coronary lesions can vary in consideration of different genetic background and environmental factors.• Risk factors for coronary involvement have been extensively studied in the Asian population, and others have been validated in cohorts with mixed ethnicities.• In our predominantly Caucasian population, non-coronary cardiac findings, age younger than 6 months, and IVIG unresponsiveness are independent risk factors for a more severe form of KD with aneurysms.

This study investigated sex and age differences in autistic behaviours in children with neurofibromatosis type 1 (NF1) who scored within the clinical range on the Social Responsiveness Scale - Second Edition (T score ≥ 60). Thirty-four males and 28 females (3–16 years) were assessed with the Autism Diagnostic Observation Schedule - Second Edition and Autism Diagnostic Interview - Revised. Across both measures, males exhibited greater social communication deficits relative to females. Age-related abatement of social communication difficulties was observed for males but not females. Conversely, no sex differences were found for restricted/repetitive behaviours, which were stable over time for both males and females. The findings are discussed within the context of broader neurodevelopmental considerations that are common in NF1.

Purpose: To assess subclinical markers of endothelial inflammation in young survivors from acute lymphoblastic leukemia (ALL) treated with chemotherapy without cranial irradiation. Methods: Anthrop...

Aim To systematically review the measurement properties of instruments assessing participation in young people with autism spectrum disorder (ASD). Method A search was performed in MEDLINE, PsycINFO, and PubMed combining three constructs ('ASD', 'test of participation', 'measurement properties'). Results were restricted to articles including people aged 6 to 29 years. The 2539 identified articles were independently screened by two reviewers. For the included articles, data were extracted using standard forms and their risk of bias was assessed. Results Nine studies (8 cross-sectional) met the inclusion criteria, providing information on seven different instruments. The total sample included 634 participants, with sex available for 600 (males=494; females=106) and age available for 570, with mean age for these participants 140.58 months (SD=9.11; range=36-624). Included instruments were the school function assessment, vocational index, children's assessment of participation and enjoyment/preferences for activities of children, experience sampling method, Pediatric Evaluation of Disability Inventory, Computer Adaptive Test, adolescent and young adult activity card sort, and Patient-Reported Outcomes Measurement Information System parent-proxy peer relationships. Seven studies assessed reliability and validity; good properties were reported for half of the instruments considered. Most studies (n=6) had high risk of bias. Overall the quality of the evidence for each tool was limited. Interpretation Validation of these instruments, or others that comprehensively assess participation, is needed. Future studies should follow recommended methodological standards. What this paper adds Seven instruments have been used to assess participation in young people with autism. One instrument, with excellent measurement properties in one study, does not comprehensively assess participation. Studies of three instruments that incorporate a more comprehensive assessment of participation have methodological limitations. Overall, limited evidence exists regarding measurement properties of participation assessments for young people with autism.

IntroductionChildren with the single-gene disorder neurofibromatosis type 1 (NF1) appear to be at an increased risk for autism spectrum disorder (ASD) and exhibit a unique social-cognitive phenotype compared with children with idiopathic ASD. A complete framework is required to better understand autism in NF1, from neurobiological levels through to behavioural and functional outcomes. The primary aims of this study are to establish the frequency of ASD in children with NF1, examine the social cognitive phenotype, investigate the neuropsychological processes contributing to ASD symptoms and poor social functioning in children with NF1, and to investigate novel structural and functional neurobiological markers of ASD and social dysfunction in NF1. The secondary aim of this study is to compare the neuropsychological and neurobiological features of ASD in children with NF1 to a matched group of patients with idiopathic ASD.Methods and analysisThis is an international, multisite, prospective, cross-sectional cohort study of children with NF1, idiopathic ASD and typically developing (TD) controls. Participants will be 200 children with NF1 (3–15 years of age), 70 TD participants (3–15 years) and 35 children with idiopathic ASD (7–15 years). Idiopathic ASD and NF1 cases will be matched on age, sex and intelligence. All participants will complete cognitive testing and parents will rate their child’s behaviour on standardised questionnaires. Neuroimaging will be completed by a subset of participants aged 7 years and older. Children with NF1 that screen at risk for ASD on the parent-rated Social Responsiveness Scale 2nd Edition will be invited back to complete the Autism Diagnostic Observation Scale 2nd Edition and Autism Diagnostic Interview-Revised to determine whether they fulfil ASD diagnostic criteria.Ethics and disseminationThis study has hospital ethics approval and the results will be disseminated through peer-reviewed publications and international conferences.

Since resistance to intravenous immunoglobulin (IVIG) is associated with coronary lesions (CALs) in Kawasaki disease (KD), it is crucial to identify patients at risk to protect them from coronary involvement. The available risk scores to predict IVIG resistance were developed in Asian populations in whom their effectiveness has been proven, but data on non-Asian children are limited. The aim of this study is to evaluate the ability of the Kobayashi, Egami, and Formosa risk scores to predict IVIG resistance and CALs in Italian patients with KD. A multicenter retrospective analysis involving children with KD diagnosed between 2000 and 2015 was carried out: 257 patients were enrolled (57.9% boys, 89.9% Caucasian); 43 patients were IVIG resistant (16.7%). The scores have low sensitivity and specificity in predicting IVIG resistance: respectively, KS 64% and 62.5%, ES 41.4% and 77.4%, and FS 70.8% and 44.9%. The predictive value of the 3 scores for predicting CALs was also poor.Conclusion: Kobayashi, Egami, and Formosa Scores are ineffective in predicting IVIG resistance and coronary involvement in a predominantly Caucasian cohort. A specific score system for mostly Caucasian children with KD is needed enable the early identification of those at risk for CALs who could benefit from intensified treatment. What is Known: • There are several risk scores developed in the Asian population to early identify patients with KD at risk for immunoglobulin-resistance and thus for coronary lesions. • Data are scarce on their effectiveness in non-Asian children. What is New: • We present a comprehensive analysis of the ability of 3 Asian risk scores in a cohort of mostly Caucasian children to predict immunoglobulin resistance and coronary involvement. • Low sensitivity and specificity of the Asian scores for immunoglobulin-resistance and coronary lesions suggest the need for criteria specific for different ethnicities.

A 12-year-old boy with a right atrium endocardial mass was initially diagnosed as having Lemierre’s syndrome on the basis of previous mastoiditis and jugular vein and cerebral venous thrombosis. Lack of response to antibiotics, persistent high fever with chills, acute-phase reactants, and peripheral arterial pseudoaneurysms made us reconsider the diagnosis. Only after the late appearance of radiological pulmonary lesions and recognition of pulmonary artery aneurysms, Hughes–Stovin syndrome was diagnosed. Hughes–Stovin syndrome is an exceedingly rare vasculitis, especially in childhood, consisting of multiple pulmonary artery aneurysms and deep venous thromboses. The lack of formal diagnostic criteria and the rarity of the disease make the diagnosis very challenging, especially when respiratory complaints are not present at onset, as in the presented case. The treatment aims to reduce inflammation, although there is debate about anticoagulation therapy because of the risk of pulmonary haemorrhage.

Objective: The accuracy of the SenseWear Pro2 Armband (SWA) in estimating resting energy expenditure (REE) in children and adolescents with obesity, using indirect calorimetry (IC) as a reference was evaluated. Design and Methods: REE was assessed using both the SWA and IC in 40 obese subjects (26 M/14 F, age 11.5 ± 2.57 years, z-score BMI 3.14 ± 0.53). The agreement between methods was assessed by the Bland-Altman procedure. The relationship between REE assessments and patients' characteristics was also analyzed. Results: SWA- and IC-derived estimates of REE showed a significant correlation (r = 0.614; P < 0.001), but the SWA overestimated mean REE by 13% (P < 0.001). Age and kilogram of fat-free mass (kg-FFM) were significantly correlated with both REE estimation by SWA (r = 0.434 and r = 0.564, respectively) and IC (r = 0.401 and r = 0.518, respectively). Only kg-FFM was demonstrated to be the main predictor factor of REE variability (r2 79% SWA; 75% IC). Conclusions: The SWA overestimated mean REE in childhood obesity, suggesting that the SWA and IC are not yet interchangeable methods. This would require improving the SWA by developing better algorithms for predicting REE and, probably, bias in each individual REE could be reduced by an adjustment for subjects' kg-FFM.

Hypothyroidism is associated with the risk of development of the metabolic syndrome (MS) and hypercholesterolemia. Direct evidence that hypothyroidism might be associated with advanced chronic liver disease via nonalcoholic steatohepatitis (NASH) is limited. We studied the relationship between thyroid hormones, thyroid stimulating hormone (TSH), cholesterol, and NASH. In consecutive euthyroid patients with biopsy-proven nonalcoholic fatty liver disease, TSH and thyroid hormone (FT3 and FT4) concentrations were compared in 25 patients with steatosis and 44 non-cirrhotic NASH patients featuring concurrent ballooning, lobular inflammation and steatosis. The MS was diagnosed according to ATP III criteria. A meta-analysis of previously published studies was performed to evaluate whether NASH, compared to simple steatosis, is associated with lower cholesterol levels. At univariate analysis, compared to those with steatosis, patients with NASH have a wider waist, elevated levels of BMI, ALT, AST, fasting insulin, HOMA-IR, ferritin, TSH and a lower serum cholesterol. At stepwise multivariable logistic regression analysis, the independent predictors of NASH are high HOMA and TSH and lower total cholesterol (Model 1); MS and high TSH (Model 2). At meta-analysis, serum total cholesterol levels are significantly lower in predominantly non-cirrhotic NASH than in simple steatosis. This study provides cross-sectional and meta-analytic evidence that, in euthyroid patients, high-though-normal TSH values are independently associated with NASH. Further work is needed to ascertain the role, if any, of lower cholesterol serum levels in assisting in the diagnosis of NASH.

Objective: to evaluate the incidence of coronary anomalies (CAA) and risk factors for coronary involvement in children with KD from 2000 through 2013 in Emilia-Romagna. Design: an 11-centers retrospective study was conducted using data from 132 patients diagnosed with KD. Results: during the acute phase, CAA developed in 13/132 pts (9.8%): 2 pts had isolated ectasia of right coronary artery (RCA), 10 pts had ectasia of left anterior descending CA (LAD), 1 pt had aneurysm of LAD, 1 pt had ectasia of circonflex CA (CX). During the subacute phase 14/117 pts (11.9%) presented CAA: 3 had aneurysm of LAD, 1 had aneurysm of LAD and RCA, 1 had isolated ectasia of RCA, 9 had ectasia of LAD. During the convalescent phase CAA were detected in 18/83 pts (21%): 3 had aneurysm of LAD and RCA, 2 isolated aneurysm of LAD, 1 had aneurysm of RCA, 12 ectasia of LAD. 3 out of 6 aneurysms detected in theconvalescent phase developed in the subacute stage. Univariate analyses identified WBC and RBC in the subacute phase, and PLT in chronic phase as predictors of chronic CAA (respectively p 0.04, 0.013 and 0.002). A multivariate logistic regression analysis revealed that only PLT of the chronic stage was predictor for chronic CAA. ROC curve for PLT identified a value superior to 652000/mm3 to be the cut off value for CAA, with an 72% sensitvity and 87% specificity. Incomplete or atipical clinical presentation was correlated with CAA (p 0.02). Younger age (< 1 yr) at diagnosis, seasonal distribution, IVIG responsivness, race, elevation of ALT, percentage of neutrophil, hemoglobin, CRP and ESR, albumin and sodium were not correlated with risk for CAL. Conclusions: atipical/incomplete clinical presentation, higher WBC and RBC in the subacute phase and PLT of the convalescent phase were predictors of CAA in our region, while blood exams of the acute stage, IVIG responsivness, sex and younger age were not.

We updated our regional database for KD patients from 2011 to 2014 to investigate differences in epidemiological, clinical and outcome data between 2011-2014 pts and those diagnosed between 2000-2010 in Emilia Romagna. We had 77 KD patients during last 4 years ( vs 81 pts during 2000-2010), mean age at diagnosis 40 months+- 36,4 (vs 31,2 mths ), 10% were younger than 6 months at diagnosis (vs 14%), male were 60 % (vs 59%). Seasonality was as follows: spring 27 (% vs 33%), winter 25% (vs 28%), autumn 25% (vs 26%), summer 23% (vs 14%). Clinical presentation was complete in 69 % (vs vs 74%), incomplete in 30% (vs 26%), atipical 1 % (vs 0%). IVIG responder were 77% (vs 67%), non responders 16 % (vs 12%), late treatment 2 % (vs 12% P 0.002), not treated with IVIG 5 % (vs 9%). 18/77 pts ( vs 7 of 2000-2010,P 0.004 ) had alteration of ALT ( v> 45 U/) and AST ( v > 55 U/l) and among those with transminases alteration 8 ( vs 4 pts) had cholestasis. Coronary arteries anomalies (CAA) were present in 15% ( 9 % ectasia and 6% (vs 2 %) aneurysms ( mean age 12,6 months, 2 pts non responders to standard therapy, 1 pts with late treatment, 1 pts not treated, and 1 pts well treated. The 2 patients who developed giant aneurysms were both non responder to standard therapy, 1 pts had associated cholestasis. Conclusion: during the last four years we observed an higher number of diagnosis of KD than 2000-2010; incomplete and atipical cases, and non-responder pts were more frequent but we noted a decreased of pts not treated or delayed treated; more cases of cholestasis associated to KD and an increased number of patients with aneurysms.

The accuracy of the SenseWear Pro2 Armband (SWA) in estimating resting energy expenditure (REE) in children and adolescents with obesity, using indirect calorimetry (IC) as a reference was evaluated.REE was assessed using both the SWA and IC in 40 obese subjects (26 M/14 F, age 11.5 ± 2.57 years, z-score BMI 3.14 ± 0.53). The agreement between methods was assessed by the Bland-Altman procedure. The relationship between REE assessments and patients' characteristics was also analyzed.SWA- and IC-derived estimates of REE showed a significant correlation (r = 0.614; P0.001), but the SWA overestimated mean REE by 13% (P0.001). Age and kilogram of fat-free mass (kg-FFM) were significantly correlated with both REE estimation by SWA (r = 0.434 and r = 0.564, respectively) and IC (r = 0.401 and r = 0.518, respectively). Only kg-FFM was demonstrated to be the main predictor factor of REE variability (r(2) 79% SWA; 75% IC).The SWA overestimated mean REE in childhood obesity, suggesting that the SWA and IC are not yet interchangeable methods. This would require improving the SWA by developing better algorithms for predicting REE and, probably, bias in each individual REE could be reduced by an adjustment for subjects' kg-FFM.