European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
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Eur. J. Paediatr. Neurol. · Jan 2014
ReviewComparing contents of outcome measures in cerebral palsy using the International Classification of Functioning (ICF-CY): a systematic review.
The International Classification of Functioning children and youth version (ICF-CY) provides a universal framework for defining and classifying functioning and disability in children worldwide. To facilitate the application of the ICF in practice, ICF based-tools like the "ICF Core Sets" are being developed. In the context of the development of the ICF-CY Core Sets for children with Cerebral Palsy (CP), the aims of this study were as follows: to identify and compare the content of outcome measures used in studies of children with CP using the ICF-CY coding system; and to describe the most frequently addressed areas of functioning in those studies. ⋯ The outcome measures contained 2193 concepts that were linked to the ICF-CY and covered 161 independent ICF-CY categories. Out of the 161 categories, 53 (33.5%) were related to body functions, 75 (46%) were related to activities/participation, 26 (16.1%) were related to environmental factors, and 7 (4.3%) were related to body structures. This systematic review provides information about content of measures that may guide researchers and clinicians in their selection of an outcome measure for use in a study and/or clinical practice with children with CP.
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Eur. J. Paediatr. Neurol. · Jan 2014
The effect of continuous intrathecal baclofen on sitting in children with severe cerebral palsy.
To investigate the effect of intrathecal baclofen (ITB) on sitting in children with cerebral palsy with severe spasticity; and identify potential sub-groups of patients at particular risk of deterioration. ⋯ Sitting does not improve or deteriorate in children following treatment with ITB, independent of age or severity of motor impairment.
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Eur. J. Paediatr. Neurol. · Jan 2014
Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status.
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by early-onset recurrent distinctive hemiplegic episodes commonly accompanied by other paroxysmal features and developmental impairment. De novo mutations in ATP1A3 were recently identified as a genetic cause of AHC. To describe the entire Danish cohort of paediatric AHC patients we approached neuropaediatricians nationwide. ⋯ The patients harboured a wide range of psychomotor difficulties. Patients with no mutation detected tended to be less severely affected. Prevalence was approximately 1 per 100,000 children.
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Eur. J. Paediatr. Neurol. · Nov 2013
Review Meta AnalysisDo antipyretics prevent the recurrence of febrile seizures in children? A systematic review of randomized controlled trials and meta-analysis.
To determine the effectiveness of antipyretics use in prevention of subsequent febrile seizures in children. ⋯ Antipyretics were ineffective in reducing the recurrence of febrile seizures.
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Eur. J. Paediatr. Neurol. · Nov 2013
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
Submicroscopic chromosomal rearrangements are the most common identifiable causes of intellectual disability and autism spectrum disorders associated with dysmorphic features. Chromosomal microarray (CMA) can detect copy number variants <1 Mb and identifies size and presence of known genes. The aim of this study was to demonstrate the usefulness of CMA, as a first-tier tool in detecting the etiology of unexplained intellectual disability/autism spectrum disorders (ID/ASDs) associated with dysmorphic features in a large cohort of pediatric patients. ⋯ Our study provides further evidence of the high diagnostic yield of CMA for genetic testing in children with unexplained ID/ASDs who had dysmorphic features. We confirm the value of CMA as the first-tier tool in the assessment of those conditions in the pediatric setting.