Childrens Hospital of Eastern Switzerland

Sankt Gallen, Switzerland

Childrens Hospital of Eastern Switzerland

Sankt Gallen, Switzerland
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PubMed | University of Groningen, Childrens Hospital of Eastern Switzerland, Heinrich Heine University Düsseldorf and Hanze University of Applied Sciences, Groningen
Type: Journal Article | Journal: Acta paediatrica (Oslo, Norway : 1992) | Year: 2016

The Neonatal Oral-Motor Assessment Scale (NOMAS) is a standardised tool to assess sucking patterns in infants to 48 weeks of postmenstrual age (PMA). In the Netherlands, the interpretation of specific NOMAS items has evolved, leading to a new scoring system. Recent research using the NOMAS describes a way of clustering the most frequent items, and the aim of this study was to determine whether those changes improved the inter-rater reliability.The inter-rater reliability was tested by two NOMAS-certified therapists who scored 120 video recordings of 40 preterm infants, admitted to the University Hospital of Dsseldorf, Germany, at 34, 37 and 44 weeks PMA, for normal, disorganised and dysfunctional diagnosis. The NOMAS comprised 28 items and five clusters of items.The therapists agreed on the level of diagnoses for 116 of 120 recordings (Cohens 0.90), on an item level for 107 of 120 recordings (Cohens 0.78) and on a cluster level for 108 of 120 recordings (Cohens K 0.90).The new scoring system improved the inter-rater reliability of the NOMAS on all levels, highlighting the importance of NOMAS user having a clear understanding on how to interpret and score each item.

PubMed | University of Liverpool, Alder Hey Childrens NHS Foundation Trust, University of Heidelberg, Childrens Hospital of Eastern Switzerland and 7 more.
Type: | Journal: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society | Year: 2017

Newborn screening (NBS) for cystic fibrosis (CF) is a well-established public health strategy with international standards. The aim of this study was to provide an update on NBS for CF in Europe and assess performance against the standards.Questionnaires were sent to key workers in each European country.In 2016, there were 17 national programmes, 4 countries with regional programmes and 25 countries not screening in Europe. All national programmes employed different protocols, with IRT-DNA the most common strategy. Five countries were not using DNA analysis. In addition, the processing and structure of programmes varied considerably. Most programmes were achieving the ECFS standards with respect to timeliness, but were less successful with respect to sensitivity and specificity.There has been a steady increase in national CF NBS programmes across Europe with variable strategies and outcomes that reflect the different approaches.

Depner M.,Ludwig Maximilians University of Munich | Fuchs O.,Ludwig Maximilians University of Munich | Fuchs O.,University of Bern | Fuchs O.,University of Basel | And 23 more authors.
American Journal of Respiratory and Critical Care Medicine | Year: 2014

Rationale: Clinical and epidemiologic approaches have identified two distinct sets of classifications for asthma and wheeze phenotypes. Objectives: To compare epidemiologic phenotype definitions identified by latent class analysis (LCA) with clinical phenotypes based on patient histories, diagnostic work-up, and treatment responses. To relate phenotypes to genetic and environmental determinants as well as diagnostic and treatment-related parameters. Methods: LCA was performed in an international multicenter birth cohort based on yearly questions about current wheeze until age 6 years. Associations of wheeze classes and clinical phenotypes with asthma-related characteristics such as atopy, lung function, fraction of exhaled nitric oxide, and medication use were calculated using regression models. Measurements and Main Results: LCA identified five classes, which verified the clinically defined wheeze phenotypes with high sensitivity and specificity; the respective receiver operating characteristics curves displayed an area under the curve ranging from 84% (frequent wheeze) to 85% (asthma diagnosis) and 87% (unremitting wheeze) to 97% (recurrent unremitting wheeze). Recurrent unremitting wheeze was the most specific and unremitting wheeze at least once the most sensitive definition. The latter identified a subgroup of children with decreased lung function, increased genetic risk, and in utero smoke exposure (odds ratio, 2.03; 95% confidence interval, 1.12-3.68; P = 0.0191), but without established asthma diagnosis and treatment. Conclusions: Clinical phenotypes were well supported by LCA analysis. The hypothesis-free LCA phenotypes were a useful reference for comparing clinical phenotypes. Thereby, we identified children with clinically conspicuous but undiagnosed disease. Because of their high area under the curve values, clinical phenotypes such as (recurrent) unremitting wheeze emerged as promising alternative asthma definitions for epidemiologic studies. 2014 Copyright © 2014 by the American Thoracic Society.

Wiegand S.,Charité - Medical University of Berlin | Keller K.-M.,German Clinic for Diagnostics | Robl M.,University of Gottingen | L'Allemand D.,Childrens Hospital of Eastern Switzerland | And 3 more authors.
International Journal of Obesity | Year: 2010

Objective:Comorbidities of childhood obesity challenge health-care systems in Europe. Further, there is a lack of population-specific prevalence data and diagnostic strategies available, especially for obesity-related disturbances of liver function. Therefore, the prevalence of elevated liver enzymes and their relationship to biological parameters were studied in a large pediatric obesity cohort.Methods:In 111 specialized pediatric obesity centers in Germany, Austria and Switzerland, 16 390 children and adolescents (age 12.4±2.6 years, 58% boys) were categorized as overweight (body mass index (BMI) >90th percentile) and obese (97th percentile) and studied for related comorbidities, especially nonalcoholic fatty liver disease (NAFLD; as defined by aspartate aminotransferase (AST) and/or alanine aminotransferase (ALT) >50 Ul -1). Data were collected using a standardized software program (APV) for longitudinal multicenter documentation. Pseudonymized data were transmitted for central statistical analysis.Results:In this pediatric cohort, 16% of the study population was overweight, 46% obese and 35% extremely obese (99.5th percentile extreme obesity (Xob)). NAFLD was present in 11% of the study population, but predominantly in boys (boys vs girls; 14.4:7.4%; P<0.001), in Xob (obese vs Xob; 9.5:17.0%; P<0.001) and in older age (<12 vs ≥12 years; 8:12%; P<0.001; adjusted for BMI). ALT >50 Ul-1 was significantly associated with fasting insulin and BMI-SDS. In multiple logistic regression models, Xob and male gender were strongly associated with NAFLD (odds ratio Xob vs normal weight3.2; boys vs girls OR=2.3).Conclusion:In a large cohort of overweight and obese European children and adolescents, markers of nonalcoholic liver disease, especially ALT, are frequent and predicted by Xob and male gender. The results underline the epidemiological dimension of this obesity-related morbidity even in childhood. Therefore, at least ALT is recommended as a screening parameter in basic care. © 2010 Macmillan Publishers Limited All rights reserved.

Reinehr T.,Witten/Herdecke University | Wiegand S.,Charité - Medical University of Berlin | Siegfried W.,Insula Berchtesgarden | Keller K.M.,German Center for Diagnostics | And 4 more authors.
International Journal of Obesity | Year: 2013

OBJECTIVE:The aim was to analyze the effectiveness of treatment concerning obesity-associated comorbidities in clinical practice.METHODS:A total of 11 681 overweight children with ≥6-month follow-up treated at 175 centers specialized in pediatric obesity care in Central Europe were included in this analysis (mean body mass index (BMI) 29.0±5.6 kg m-2, standard deviation score body mass index (SDS-BMI) 2.48±0.54, 45% boys, age 11.4±2.8 years). The changes of weight status, blood pressure, fasting lipids and glucose, and oral glucose tolerance tests were documented by standardized prospective quality documentation software (APV).RESULTS:After follow-up of in median 1.2 (interquartile range 0.9-2.2) years, a mean reduction of-0.15 SDS-BMI was achieved. The prevalence of prehypertension (37->33%) and hypertension (17->12%) decreased, while prevalences of triglycerides >150 mg dl-1 (22->21%), low-density-lipoprotein-cholesterol >130 mg dl-1 (15->14%), impaired fasting glucose (6->6%) and impaired glucose tolerance (9->8%) remained stable. Drug treatment according to cutoffs recommended in European obesity guidelines were not frequently indicated (hypertension: 10%; dyslipidemia: 1%, type 2 diabetes <1%). None of the children with dyslipidemia received lipid-lowering drugs and only 1.4% of the children with hypertension were treated with antihypertensive drugs.CONCLUSIONS:Achieving sufficient weight loss to improve obesity associated comorbidities was difficult in clinical practice. Drug treatment of hypertension, dyslipidemia and type 2 diabetes was rarely performed even if it was indicated only in a minority of the overweight children. Future analyses should identify reasons for this insufficient drug treatment of comorbidities and analyze whether the benchmarking processes of APV improve medical care of childhood obesity. © 2013 Macmillan Publishers Limited. All rights reserved.

Wiegand S.,Charité - Medical University of Berlin | L'Allemand D.,Childrens Hospital of Eastern Switzerland | Hubel H.,Charité - Medical University of Berlin | Krude H.,Charité - Medical University of Berlin | And 4 more authors.
European Journal of Endocrinology | Year: 2010

Objective: To study whether metformin reduces obesity, homeostasis model assessment for insulin resistance index (HOMA-IR), and the metabolic syndrome (MtS) in obese European adolescents in addition to previous unsuccessful lifestyle intervention. Design and methods: After 6 months of multiprofessional lifestyle intervention, 70 out of 86 adolescents without improvement in body mass index (BMI) and HOMA-IR were randomized into either the placebo (n = 34) or the metformin group (2 X 500 mg/day, n = 36) in addition to ongoing lifestyle intervention for another 6 months. Results: Age was 13.8 years, BMI was 33.1 kg/m2, 65% were female, and 89% were Caucasians. During lifestyle intervention alone, BMI and HOMA-IR deteriorated significantly. In the subsequent medication period, HOMA-IR and fasting insulin improved similarly in the placebo and metformin groups (HOMA-IR decreased 73 vs 54% respectively in metformin versus placebo; P = 0.048), but BMI remained unchanged. The insulin sensitivity index, however, only improved in the metformin group. High fasting insulin is correlated with a subsequent BMI increase irrespective of the medication. MtS remained unchanged. Conclusions: Obese European adolescents' insulin sensitivity improved without weight change during placebo or metformin intervention in addition to lifestyle intervention. Most differences did not reach statistical significance, probably due to improved compliance with lifestyle intervention as a placebo effect. In addition, the metformin dose may be too low. © 2010 European Society of Endocrinology.

PubMed | The Hospital for Sick Children, Innsbruck Medical University, University of Zürich, Childrens Hospital of Eastern Switzerland and 2 more.
Type: Case Reports | Journal: American journal of medical genetics. Part A | Year: 2016

Hypomorphic germline mutations in the PIGA (phosphatidylinositol glycan class A) gene recently were recognized as the cause of a clinically heterogeneous spectrum of X-linked disorders including (i) early onset epileptic encephalopathy with severe muscular hypotonia, dysmorphism, multiple congenital anomalies, and early death (MCAHS2), (ii) neurodegenerative encephalopathy with systemic iron overload (ferro-cerebro-cutaneous syndrome, FCCS), and (iii) intellectual disability and seizures without dysmorphism. Previous studies showed that the recurrent PIGA germline mutation c.1234C>T (p.Arg412*) leads to a clinical phenotype at the most severe end of the spectrum associated with early infantile lethality. We identified three additional individuals from two unrelated families with the same PIGA mutation. Major clinical findings include early onset intractable epileptic encephalopathy with a burst-suppression pattern on EEG, generalized muscular hypotonia, structural brain abnormalities, macrocephaly and increased birth weight, joint contractures, coarse facial features, widely spaced eyes, a short nose with anteverted nares, gingival overgrowth, a wide mouth, short limbs with short distal phalanges, and a small penis. Based on the phenotypic overlap with Simpson-Golabi-Behmel syndrome type 2 (SGBS2), we hypothesized that both disorders might have the same underlying cause. We were able to confirm the same c.1234C>T (p.Arg412*) mutation in the DNA sample from an affected fetus of the original family affected with SGBS2. We conclude that the recurrent PIGA germline mutation c.1234C>T leads to a recognizable clinical phenotype with a poor prognosis and is the cause of SGBS2.

Rudin C.,University of Basel | Spaenhauer A.,University of Basel | Keiser O.,University of Bern | Rickenbach M.,Coordination and Data Center | And 3 more authors.
HIV Medicine | Year: 2011

Background: There is an ongoing debate as to whether combined antiretroviral treatment (cART) during pregnancy is an independent risk factor for prematurity in HIV-1-infected women. Objective: The aim of the study was to examine (1) crude effects of different ART regimens on prematurity, (2) the association between duration of cART and duration of pregnancy, and (3) the role of possibly confounding risk factors for prematurity. Method: We analysed data from 1180 pregnancies prospectively collected by the Swiss Mother and Child HIV Cohort Study (MoCHiV) and the Swiss HIV Cohort Study (SHCS). Results: Odds ratios for prematurity in women receiving mono/dual therapy and cART were 1.8 [95% confidence interval (CI) 0.85-3.6] and 2.5 (95% CI 1.4-4.3) compared with women not receiving ART during pregnancy (P=0.004). In a subgroup of 365 pregnancies with comprehensive information on maternal clinical, demographic and lifestyle characteristics, there was no indication that maternal viral load, age, ethnicity or history of injecting drug use affected prematurity rates associated with the use of cART. Duration of cART before delivery was also not associated with duration of pregnancy. Conclusion: Our study indicates that confounding by maternal risk factors or duration of cART exposure is not a likely explanation for the effects of ART on prematurity in HIV-1-infected women. © 2010 British HIV Association.

PubMed | University of Lausanne, University of Bern and Childrens Hospital of Eastern Switzerland
Type: | Journal: Swiss medical weekly | Year: 2016

Detection and treatment of infections during pregnancy are important for both maternal and child health. The objective of this study was to describe testing practices and adherence to current national guidelines in Switzerland.We invited all registered practicing obstetricians and gynaecologists in Switzerland to complete an anonymous web-based questionnaire about strategies for testing for 14 infections during pregnancy. We conducted a descriptive analysis according to demographic characteristics.Of 1138 invited clinicians, 537 (47.2%) responded and 520 (45.6%) were eligible as they are currently caring for pregnant women. Nearly all eligible respondents tested all pregnant women for group B streptococcus (98.0%), hepatitis B virus (HBV) (96.5%) and human immunodeficiency virus (HIV) (94.7%), in accordance with national guidelines. Although testing for toxoplasmosis is not recommended, 24.1% of respondents tested all women and 32.9% tested at the request of the patient. Hospital doctors were more likely not to test for toxoplasmosis than doctors working in private practice (odds ratio [OR] 2.52, 95% confidence interval [CI] 1.04-6.13, p = 0.04). Only 80.4% of respondents tested all women for syphilis. There were regional differences in testing for some infections. The proportion of clinicians testing all women for HIV, HBV and syphilis was lower in Eastern Switzerland and the Zurich region (69.4% and 61.2%, respectively) than in other regions (range 77.1-88.1%, p <0.001). Most respondents (74.5%) said they would appreciate national guidelines about testing for infections during pregnancy.Testing practices for infections in pregnant women vary widely in Switzerland. More extensive national guidelines could improve consistency of testing practices.

L'Allemand-Jander D.,Childrens Hospital of Eastern Switzerland
International Journal of Obesity | Year: 2010

Childhood overweight (body mass index (BMI)90th centile) poses a major public health problem in so far as adult diseases manifest themselves already during childhood. In this review, after examining the prevalence of metabolic and cardiovascular diseases, the issue of whether BMI or other clinical parameters are valid tools to predict co-morbidities in children is discussed. Data of 2001-2008 are reviewed, including several studies conducted on more than 260 000 overweight and obese children in Germany and Switzerland. Apart from non-metabolic co-morbidities, namely musculoskeletal complications and attention deficit/hyperactivity disorders in up to 74% and up to 58% of overweight children, respectively, at least one cardiovascular and metabolic risk factor was seen in 52% of the overweight children, mostly high blood pressure (35%) with increased left ventricular mass or arterial stiffness. Signs of fatty liver disease or dyslipidemia were found in up to 29 and 32% of the children, respectively. Type 2 diabetes was found in less than 0.7% of the children, and an elevated fasting glucose or glucose intolerance in 3%. Irrespective of BMI, the quality of fat and protein intake predicted hypertension or insulin resistance, and fructose predicted lower (and more atherogenic) particle size of low-density lipoprotein-cholesterol. Out of the adiposity markers, waist circumference was closely correlated with insulin resistance and the components of the metabolic syndrome. In conclusion, risk factors are found in more than half of the overweight children, most frequently high blood pressure or dyslipidemia, and were mainly related to waist circumference, but also to BMI and fat mass. Even in the presence of normal BMI, screening for cardiovascular risk factors is advocated in each child with elevated waist circumference, but its cut-off points still remain to be validated. The increased occurrence of orthopedic and psychiatric complaints may detrimentally influence health-related lifestyle and obesity therapy. © 2010 Macmillan Publishers Limited All rights reserved.

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