57 research outputs found

    Risikofaktoren, Diagnostik sowie Therapie bei Kindern und Jugendlichen mit Erkrankungen von ZNS und Muskel

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    Associations between stress and migraine and tension-type headache: Results from a school-based study in adolescents from grammar schools in Germany

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    Introduction: Stress is considered the major contributor to migraine and tension-type headache in adolescents. Previous studies have focused on general stressors, whereas the aim of the present study was to investigate associations between individuals’ stressful experiences and different types of headache. Methods: Adolescents from 10th and 11th grades of grammar schools filled in questionnaires. Stressful experiences were measured with the Trier Inventory of Chronic Stress. Type of headache was classified according to the International Classification of Headache Disorders. Linear regressions, adjusted for sex and grade, were calculated to estimate differences in stress scores that can be attributed to migraine, tension-type headache or miscellaneous headache. Results: A total of 1260 questionnaires were analysed. Tension-type headache, migraine and co-existing migraine plus tension-type headache were found in 48.7%, 10.2% and 19.8% of the participants. In subjects with migraine or co-existing migraine plus tension-type headache, high increases in stress scores were found in all investigated dimensions, whereas much weaker and inconsistent associations were found in subjects with tension-type headache only. Conclusions: The characteristic of migraine is more associated with stressful experiences than this is the case for tensiontype headache. This suggests that adolescent migraine patients might specially benefit from behavioural interventions regarding stress

    Self-reported muscle pain in adolescents with migraine and tension-type headache

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    Aim: To identify possible associations between muscular pain and headache in adolescents in a large population-based sample. Methods: Grammar school students were invited to fill in a questionnaire on headache and associated lifestyle factors. Headache was classified according to the German version of the International Classification of Headache Disorders (2nd edition). Muscular pain was assessed via denoting affected areas in schematic drawings of a body and via provoked muscular pain on controlled movements of head, neck and shoulder regions. Results: Prevalence of any headache within the previous 6 months exceeded 80%. In all subjects muscular pain or pain on movement was most prominent in the neck and shoulder region, ranging from 9% to 27% in the non-headache population to up to 63% for individuals with migraine or mixed migraine and tension-type headache (TTH). Frequency of muscular pain increased significantly with growing chronicity of TTH. Interpretation: A strong association between muscle pain in the neck/shoulder region and headache was observed, pointing to the importance of muscular pain for headache in adolescents. Also, in this age group muscular pain appears to be of particular importance in chronic TTH and – unexpectedly – in migraine, which is the most important new finding in our study

    Concurrent TNFRSF1A R92Q and pyrin E230K mutations in a child with multiple sclerosis

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    We report a 16-year-old female patient with a severe course of multiple sclerosis and concomitant symptoms suggestive of a hereditary autoinflammatory disease. Genetic analyses revealed that she inherited a TNFRSF1A R92Q mutation from her mother and a pyrin E230K mutation from her father. To our knowledge, this is the first report of a patient with severe childhood multiple sclerosis and mutations in two genes which predispose to hereditary autoinflammatory disorders. We speculate that these mutations contribute to early multiple sclerosis manifestation and enhance the inflammatory damage inflicted by the autoimmune response

    Myofascial Trigger Points in Children With Tension-Type Headache: A New Diagnostic and Therapeutic Option

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    The goal of this pilot study was to evaluate the effect of a trigger point–specific physiotherapy on headache frequency, intensity, and duration in children with episodic or chronic tension-type headache. Patients were recruited from the special headache outpatient clinic. A total of 9 girls (mean age 13.1 years; range, 5-15 years) with the diagnosis of tension-type headache participated in the pilot study from May to September 2006 and received trigger point–specific physiotherapy twice a week by a trained physiotherapist. After an average number of 6.5 therapeutic sessions, the headache frequency had been reduced by 67.7%, intensity by 74.3%, and duration by 77.3%. No side effects were noted during the treatment. These preliminary findings suggest a role for active trigger points in children with tension-type headache. Trigger point–specific physiotherapy seems to be an effective therapy in these children. Further prospective and controlled studies in a larger cohort are warranted

    Molekulare Therapien bei neuromuskulären Erkrankungen im Kindesalter — Große Hoffnungen und unbekannte Risiken

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    Spinal muscular atrophy and muscular dystrophy Duchenne belong to the group of rare neuromuscular diseases manifesting in early childhood. Therapeutic options for some of these rare monogenic diseases have changed significantly in recent years. Molecular therapies such as direct gene transfer or alternative processing of the disease-specific gene play an important role in this transformation.In particular, the course of 5q-associated spinal muscle atrophy has changed significantly due to the availability of such causal therapies, while the results of ongoing studies are still pending for most muscle diseases. In the area of neuromuscular diseases, an achievable therapeutic goal is to slow the progression, but not complete healing. Currently, only limited data are available. In particular, the long-term effectiveness and the possible risks are still unknown. Therefore, these therapies should be used under strictly monitored conditions

    Delayed-Release Dimethyl Fumarate Safety and Efficacy in Pediatric Patients With Relapsing-Remitting Multiple Sclerosis

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    Background: Pediatric multiple sclerosis (MS) is rare: only 1.5-5% of MS cases are diagnosed before 18 years of age, and data on disease-modifying therapies (DMTs) for pediatric MS are limited. The CONNECTED study assessed the long-term safety and efficacy of treatment with delayed-release dimethyl fumarate (DMF), an oral MS DMT, in pediatric patients with MS. Methods: CONNECTED is the 96-week extension to FOCUS, a 24-week phase 2 study of patients aged 13-17 years;participants received DMF 240 mg twice daily. Endpoints included (primary) incidence of adverse events (AEs), serious AEs, and DMF discontinuations due to an AE, and (secondary) T2 hyperintense lesion incidence by magnetic resonance imaging and annualized relapse rate (ARR). Results: Twenty participants [median (range) age, 17 (14-18) years;65% female] who completed FOCUS enrolled into CONNECTED;17 (85%) completed CONNECTED. Eighteen participants (90%) experienced AEs: the most frequent was flushing (25%). None experienced infections or fever related to low lymphocyte counts. Three participants experienced four serious AEs;none led to DMF discontinuation. Twelve of 17 participants (71%) had no new/newly enlarged T2 lesions from weeks 16-24, two (12%) had one, and one each (6%) had two, three, or five or more lesions [median (range), 0 (0-6)]. Over the full 120-week treatment period, ARR was 0.2, an 84.5% relative reduction (n = 20;95% confidence interval: 66.8-92.8;p < 0.0001) vs. the year before DMF initiation. Conclusions: The long-term safety and efficacy observed in CONNECTED was consistent with adults, suggesting pediatric and adolescent patients with MS might benefit from DMF treatment

    High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy

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    BackgroundSpinal muscular atrophy (SMA) is a genetic neurodegenerative disease leading to muscular weakness and premature death. Three therapeutic options are currently available including gene replacement therapy (GRT), which is potentially cardiotoxic. High-sensitive cardiac troponin I (hs-cTnI) is widely used to monitor potential cardiac contraindications or side effects of GRT, but reference data in healthy newborns are limited and lacking in neonates with SMA. The aim of this study is to determine the range of pre-therapeutic hs-cTnI concentrations in neonates with SMA and to provide guidance for the assessment of these values.MethodsHs-cTnI levels, genetic and clinical data of 30 newborns (age range 2–26 days) with SMA were retrospectively collected from 6 German neuromuscular centers. In addition, hs-cTnI levels were measured in 16 neonates without SMA.ResultsThe median hs-cTnI concentration in neonates with SMA was 39.5 ng/L (range: 4–1205). In 16 newborns with SMA, hs-cTnI levels were above the test-specific upper reference limit (URL). Exploratory statistical analysis revealed no relevant correlation between hs-cTnI levels and gender, gestational age, mode of delivery, SMN2 copy number, symptoms of SMA or abnormal cardiac findings.DiscussionOur results suggest higher hs-cTnI plasma levels in newborns with and without SMA compared to assay-specific reference values generated in adults. Given the wide range of hs-cTnI values in neonates with SMA, hs-cTnI levels must be determined before treatment in each patient and post-treatment elevations should be interpreted in the context of the course rather than as individual values

    Analyse der Spontanmotorik im 1. Lebensjahr: Markerlose 3-D-Bewegungserfassung zur Früherkennung von Entwicklungsstörungen

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    Children with motor development disorders benefit greatly from early interventions. An early diagnosis in pediatric preventive care (U2–U5) can be improved by automated screening. Current approaches to automated motion analysis, however, are expensive, require lots of technical support, and cannot be used in broad clinical application. Here we present an inexpensive, marker-free video analysis tool (KineMAT) for infants, which digitizes 3‑D movements of the entire body over time allowing automated analysis in the future. Three-minute video sequences of spontaneously moving infants were recorded with a commercially available depth-imaging camera and aligned with a virtual infant body model (SMIL model). The virtual image generated allows any measurements to be carried out in 3‑D with high precision. We demonstrate seven infants with different diagnoses. A selection of possible movement parameters was quantified and aligned with diagnosis-specific movement characteristics. KineMAT and the SMIL model allow reliable, three-dimensional measurements of spontaneous activity in infants with a very low error rate. Based on machine-learning algorithms, KineMAT can be trained to automatically recognize pathological spontaneous motor skills. It is inexpensive and easy to use and can be developed into a screening tool for preventive care for children.Kinder mit motorischer Entwicklungsstörung profitieren von einer frühen Entwicklungsförderung. Eine frühe Diagnosestellung in der kinderärztlichen Vorsorge (U2–U5) kann durch ein automatisiertes Screening verbessert werden. Bisherige Ansätze einer automatisierten Bewegungsanalyse sind jedoch teuer und aufwendig und nicht in der Breite anwendbar. In diesem Beitrag soll ein neues System zur Videoanalyse, das Kinematic Motion Analysis Tool (KineMAT) vorgestellt werden. Es kann bei Säuglingen angewendet werden und kommt ohne Körpermarker aus. Die Methode wird anhand von 7 Patienten mit unterschiedlichen Diagnosen demonstriert. Mit einer kommerziell erhältlichen Tiefenbildkamera (RGB-D[Red-Green-Blue-Depth]-Kamera) werden 3‑minütige Videosequenzen von sich spontan bewegenden Säuglingen aufgenommen und mit einem virtuellen Säuglingskörpermodell (SMIL[Skinned Multi-infant Linear]-Modell) in Übereinstimmung gebracht. Das so erzeugte virtuelle Abbild erlaubt es, beliebige Messungen in 3‑D mit hoher Präzision durchzuführen. Eine Auswahl möglicher Bewegungsparameter wird mit diagnosespezifischen Bewegungsauffälligkeiten zusammengeführt. Der KineMAT und das SMIL-Modell erlauben eine zuverlässige, dreidimensionale Messung der Spontanaktivität bei Säuglingen mit einer sehr niedrigen Fehlerrate. Basierend auf maschinellen Lernalgorithmen kann der KineMAT trainiert werden, pathologische Spontanmotorik automatisiert zu erkennen. Er ist kostengünstig und einfach anzuwenden und soll als Screeninginstrument für die kinderärztliche Vorsorge weiterentwickelt werden
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