42 results on '"Uta Tacke"'
Search Results
2. Learning an Infant Body Model from RGB-D Data for Accurate Full Body Motion Analysis.
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Nikolas Hesse, Sergi Pujades, Javier Romero 0002, Michael J. Black, Christoph Bodensteiner, Michael Arens, Ulrich G. Hofmann, Uta Tacke, Mijna Hadders-Algra, Raphael Weinberger, Wolfgang Müller-Felber, and A. Sebastian Schroeder
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- 2018
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3. Neurological soft signs in adolescents are associated with brain structure
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Elena M Bonke, Michaela V Bonfert, Stefan M Hillmann, Johanna Seitz-Holland, Malo Gaubert, Tim L T Wiegand, Alberto De Luca, Kang Ik K Cho, Stian B Sandmo, Eukyung Yhang, Yorghos Tripodis, Caroline Seer, David Kaufmann, Elisabeth Kaufmann, Marc Muehlmann, Jolien Gooijers, Alexander P Lin, Alexander Leemans, Stephan P Swinnen, Roald Bahr, Martha E Shenton, Ofer Pasternak, Uta Tacke, Florian Heinen, and Inga K Koerte
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Cellular and Molecular Neuroscience ,Cognitive Neuroscience - Abstract
Neurological soft signs (NSS) are minor deviations in motor performance. During childhood and adolescence, NSS are examined for functional motor phenotyping to describe development, to screen for comorbidities, and to identify developmental vulnerabilities. Here, we investigate underlying brain structure alterations in association with NSS in physically trained adolescents. Male adolescent athletes (n = 136, 13–16 years) underwent a standardized neurological examination including 28 tests grouped into 6 functional clusters. Non-optimal performance in at least 1 cluster was rated as NSS (NSS+ group). Participants underwent T1- and diffusion-weighted magnetic resonance imaging. Cortical volume, thickness, and local gyrification were calculated using Freesurfer. Measures of white matter microstructure (Free-water (FW), FW-corrected fractional anisotropy (FAt), axial and radial diffusivity (ADt, RDt)) were calculated using tract-based spatial statistics. General linear models with age and handedness as covariates were applied to assess differences between NSS+ and NSS− group. We found higher gyrification in a large cluster spanning the left superior frontal and parietal areas, and widespread lower FAt and higher RDt compared with the NSS− group. This study shows that NSS in adolescents are associated with brain structure alterations. Underlying mechanisms may include alterations in synaptic pruning and axon myelination, which are hallmark processes of brain maturation.
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- 2022
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4. Neurological soft signs are associated with reduced medial-lateral postural control in adolescent athletes
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Elena M. Bonke, Amanda Clauwaert, Stefan M. Hillmann, Uta Tacke, Caroline Seer, Eukyung Yhang, Yorghos Tripodis, Stian B. Sandmo, Tim L.T. Wiegand, David Kaufmann, Elisabeth Kaufmann, Sutton B. Richmond, Malo Gaubert, Johanna Seitz-Holland, Alexander Leemans, Stephan P. Swinnen, Roald Bahr, Ofer Pasternak, Florian Heinen, Inga K. Koerte, Michaela V. Bonfert, and Jolien Gooijers
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Neurology ,Neurology (clinical) - Published
- 2023
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5. Analysis of motor development within the first year of life: 3-D motion tracking without markers for early detection of developmental disorders
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Uta Tacke, Sergi Pujades Rocamora, Mijna Hadders-Algra, Astrid Blaschek, Carmen Parisi, Michael J. Black, Wolfgang Müller-Felber, Florian Heinen, A. Sebastian Schroeder, and Nikolas Hesse
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Gynecology ,Physics ,03 medical and health sciences ,medicine.medical_specialty ,0302 clinical medicine ,Public Health, Environmental and Occupational Health ,medicine ,030212 general & internal medicine ,030210 environmental & occupational health - Abstract
ZusammenfassungKinder 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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- 2020
6. [Analysis of motor development within the first year of life: 3-D motion tracking without markers for early detection of developmental disorders]
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Carmen, Parisi, Nikolas, Hesse, Uta, Tacke, Sergi, Pujades Rocamora, Astrid, Blaschek, Mijna, Hadders-Algra, Michael J, Black, Florian, Heinen, Wolfgang, Müller-Felber, and A Sebastian, Schroeder
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Early Diagnosis ,Developmental Disabilities ,Germany ,Movement ,Humans ,Infant ,Child ,Algorithms - Abstract
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.
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- 2020
7. General Movement Assessment from videos of computed 3D infant body models is equally effective compared to conventional RGB video rating
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Raphael Weinberger, Michael Arens, Lucia Gerstl, A. Sebastian Schroeder, Linze J. Dijkstra, Christoph Bodensteiner, Sergi Pujades Rocamora, Anne Hilgendorff, Uta Tacke, Nikolas Hesse, Florian Heinen, Michael J. Black, Mijna Hadders-Algra, Publica, Dr von Hauner Children's Hospital [Munich, Germany], Ludwig-Maximilians-Universität München (LMU), University Children’s Hospital Zurich, University Hospital Basel [Basel], University Medical Center Groningen [Groningen] (UMCG), Capture and Analysis of Shapes in Motion (MORPHEO), Inria Grenoble - Rhône-Alpes, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire Jean Kuntzmann (LJK), Institut National de Recherche en Informatique et en Automatique (Inria)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP ), Université Grenoble Alpes (UGA)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP ), Université Grenoble Alpes (UGA), Max-Planck-Institut für Intelligente Systeme, Max-Planck-Gesellschaft, and Extremities Pain and Disability (EXPAND)
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Male ,Video Recording ,0302 clinical medicine ,Corrected Age ,Supine Position ,Outpatient clinic ,Diagnosis, Computer-Assisted ,High risk infants ,Neurologic Examination ,RISK ,Kinec ,Obstetrics and Gynecology ,NEUROLOGICAL DYSFUNCTION ,Clinical routine ,Early diagnosis ,Female ,medicine.medical_specialty ,CEREBRAL-PALSY ,Motor Activity ,DIAGNOSIS ,Movement assessment ,Sensitivity and Specificity ,Cerebral palsy ,03 medical and health sciences ,Physical medicine and rehabilitation ,Imaging, Three-Dimensional ,030225 pediatrics ,PRETERM INFANTS ,medicine ,Humans ,QUALITY ,Highrisk infants ,Kinect ,automated motion analysis ,business.industry ,NEURAL SUBSTRATE ,General Movement Assessment (GMA) ,Infant ,[INFO.INFO-CV]Computer Science [cs]/Computer Vision and Pattern Recognition [cs.CV] ,FIDGETY MOVEMENTS ,medicine.disease ,PREDICTIVE-VALUE ,SIGNS ,Pediatrics, Perinatology and Child Health ,Fidgety movements ,business ,030217 neurology & neurosurgery ,Kappa ,Fidgety - Abstract
International audience; Background: General Movement Assessment (GMA) is a powerful tool to predict Cerebral Palsy (CP). Yet, GMA requires substantial training challenging its broad implementation in clinical routine. This inspired a world-wide quest for automated GMA. Aim: To test whether a low-cost, marker-less system for three-dimensional motion capture from RGB depth sequences using a whole body infant model may serve as the basis for automated GMA.Study design: Clinical case study at an academic neurodevelopmental outpatient clinic.Subjects: Twenty-nine high risk infants were assessed at their clinical follow-up at 2-4 month corrected age (CA). Their neurodevelopmental outcome was assessed regularly up to 12-31 months CA.Outcome measures: GMA according to Hadders-Algra by a masked GMA-expert of conventional and computed 3D body model (“SMIL motion”) videos of the same GMs. Agreement between both GMAs was tested using dichotomous and graded scaling with Kappa and intraclass correlations, respectively. Sensitivity and specificity to predict CP at ≥12 months CA were assessed.Results: Agreement ofthe two GMA ratings was moderate-good for GM-complexity (κ=0.58; ICC=0.874 [95%CI 0.730;0.941]) and substantial-good for fidgety movements (FMs; Kappa=0.78, ICC=0.926[95%CI 0.843;0.965]). Five children were diagnosed with CP (four bilateral, one unilateral CP). The GMs of the child with unilateral CP were twice rated as mildly abnormal with FMs. GM-complexity and somewhat less FMs, of both conventional and SMIL motion videos predicted bilateral CP comparablyto published literature.Conclusions: Our computed infant 3D full body model is an attractive starting point for automated GMA in infants at risk of CP.
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- 2020
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8. Reliability and predictive validity of the Standardized Infant NeuroDevelopmental Assessment neurological scale
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Uta Tacke, Joachim Pietz, Heike Philippi, Mijna Hadders-Algra, André Rupp, and Extremities Pain and Disability (EXPAND)
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Male ,Predictive validity ,030506 rehabilitation ,Pediatrics ,medicine.medical_specialty ,Intraclass correlation ,Diagnostic Techniques, Neurological ,Severity of Illness Index ,Cerebral palsy ,03 medical and health sciences ,0302 clinical medicine ,Developmental Neuroscience ,Severity of illness ,medicine ,Humans ,Infant, Very Low Birth Weight ,Outpatient clinic ,Longitudinal Studies ,Psychomotor learning ,business.industry ,Infant, Newborn ,Infant ,Reproducibility of Results ,Gestational age ,Original Articles ,medicine.disease ,Inter-rater reliability ,Neurodevelopmental Disorders ,Pediatrics, Perinatology and Child Health ,Female ,Original Article ,Neurology (clinical) ,0305 other medical science ,business ,Infant, Premature ,030217 neurology & neurosurgery - Abstract
Aim To assess reliability and predictive validity of the neurological scale of the Standardized Infant NeuroDevelopmental Assessment (SINDA), a recently developed assessment for infants aged 6 weeks to 12 months. Method To assess reliability, three assessors independently rated video‐recorded neurological assessments of 24 infants twice. Item difficulty and discrimination were determined. To evaluate predictive validity, 181 infants (median gestational age 30wks [range 22–41wks]; 92 males, 89 females) attending a non‐academic outpatient clinic were assessed with SINDA's neurological scale (28 dichotomized items). Atypical neurodevelopmental outcome at 24 months or older corrected age implied a Bayley Mental Developmental Index or Psychomotor Developmental Index lower than 70 or a diagnosis of cerebral palsy (CP). Predictive values were calculated from SINDA (2–12mo corrected age, median 3mo) and typical versus atypical outcome. Results Intraclass correlation coefficients of intrarater and interrater agreement of the neurological score varied between 0.923 and 0.965. Item difficulty and discrimination were satisfactory. At 24 months or older, 56 children (31%) had an atypical outcome (29 had CP). Atypical neurological scores (below 25th centile, ≤21) predicted atypical outcome and CP with sensitivities of 89% and 100%, and specificities of 94% and 81% respectively. Interpretation SINDA's neurological scale is reliable and in a non‐academic outpatient setting has a satisfactory predictive validity for atypical developmental outcome, including CP, at 24 months or older. What this paper adds The Standardized Infant NeuroDevelopmental Assessment's neurological scale has a good to excellent reliability.The scale has promising predictive validity for cerebral palsy.The scale has promising predictive validity for other types of atypical developmental outcome., What this paper adds The Standardized Infant NeuroDevelopmental Assessment's neurological scale has a good to excellent reliability.The scale has promising predictive validity for cerebral palsy.The scale has promising predictive validity for other types of atypical developmental outcome. This article's abstract has been translated into Spanish and Portuguese. Follow the links from the abstract to view the translations. This article is commented on by Jary on page 623 of this issue. Video Podcast: https://www.youtube.com/watch?v=WpawGtkZl5I&feature=youtu.be
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- 2018
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9. SINDA: Standardized Infant NeuroDevelopmental Assessment
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Mijna Hadders-Algra, Uta Tacke, Joachim Pietz, Heike Philippi, Mijna Hadders-Algra, Uta Tacke, Joachim Pietz, and Heike Philippi
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- Nervous system--Diseases
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Is there a way to accurately predict neurodevelopmental disability within the first year of life? Standardized Infant NeuroDevelopmental Assessment (SINDA) has been developed as a screening instrument for infants aged 6 weeks to 12 months corrected age, to assist early detection of infants at high risk of neurodevelopmental disorders. It is the first developmental instrument to allow a comprehensive (360-degree) approach including “all” dimensions of development. With assessment in less than 10 minutes, SINDA can be used quickly in virtually any environment and requires only simple equipment. A truly concise neurodevelopmental assessment tool for infants in the first year. Holistic three scale approach: neurological, developmental, and socio-emotional scales. Assessment in less than 10 minutes for the neurological scale, which is also reliable and predicts neurodisability well. Highly illustrated with figures and over 160 video-clips (available from www.mackeith.co.uk) allowing the application of SINDA without a training course.
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- 2022
10. SINDA - Standardized Infant NeuroDevelopmental Assessment
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Em. Prof. Dr. Mijna Hadders-Algra, Dr. Uta Tacke, Em. Prof. Dr. Joachim Pietz, Dr. Heike Philippi, Em. Prof. Dr. Mijna Hadders-Algra, Dr. Uta Tacke, Em. Prof. Dr. Joachim Pietz, and Dr. Heike Philippi
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- Developmental disabilities--Diagnosis
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Dit boek beschrijft de SINDA: de Standardized Infant NeuroDevelopmental Assessment. De SINDA is een nieuwe, goed gevalideerde ontwikkelingsneurologische onderzoeksmethode om kinderen met een hoog risico op ontwikkelingsstoornissen op te sporen. De methode is geschikt voor baby's van 6 weken tot en met 12 maanden. Op de zuigelingenleeftijd is het brein nog erg plastisch. Deze plasticiteit verschaft kansen voor vroege interventie. Daarom is het van groot belang om ontwikkelingsstoornissen, zoals cerebrale parese, verstandelijke beperking en autisme, bij kinderen zo vroeg mogelijk op te sporen. De SINDA bestaat uit een neurologische, ontwikkelings- en socio-emotionele schaal. De methode kost weinig tijd en is gemakkelijk uitvoerbaar met gebruik van alledaagse objecten. Daarmee is de SINDA een instrument dat geschikt is voor ieder die werkt in het veld van vroege opsporing van baby's met ontwikkelingsstoornissen, zoals jeugdartsen, kinderartsen, kinderrevalidatieartsen, kinderfysiotherapeuten en kinderergotherapeuten. Dit is een praktisch boek, aangevuld met een zeer rijke online omgeving op vangorcumstudie.nl. Het boek beschrijft alle onderzoeksitems van de SINDA in detail. Aan de hand van de omschrijvingen en begeleidende foto's kunnen professionals zich zelf de methode eigen maken. Online zijn bovendien meer dan 160 videoclips te bekijken over de uitvoering van de onderzoeksitems en beoordeling van geobserveerd gedrag van de zuigeling. Over de auteurs Em. Prof. Dr. Mijna Hadders-Algra, hoogleraar ontwikkelingsneurologie, UMCG, Groningen, Nederland. Dr. Uta Tacke, kinderneuroloog, Universitäts-Kinderspital Basel, Zwitserland. Em. Prof. Dr. Joachim Pietz, hoogleraar kinderneurologie, Universitätsklinikum Heidelberg, Duitsland. Dr. Heike Philippi, kinderneuroloog, SPZ Frankfurt Mitte en Goethe-Universität Frankfurt am Main, Duitsland.
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- 2021
11. SINDA - Standardized Infant NeuroDevelopmental Assessment : Untersuchung zur Früherkennung von neurologischen Erkrankungen und Entwicklungsstörungen im ersten Lebensjahr
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Mijna Hadders-Algra, Uta Tacke, Joachim Pietz, Heike Philippi, Mijna Hadders-Algra, Uta Tacke, Joachim Pietz, and Heike Philippi
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- Developmental disabilities, Newborn infants--Diseases, Nervous system--Diseases
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Die möglichst frühe Erkennung neurologischer Erkrankungen und Entwicklungsstörungen ist in der Pädiatrie die unverzichtbare Basis für zielgerichtete Therapie, Förderung, Beratung und Unterstützung. Dies gilt insbesondere für Erkrankungen wie Cerebralparese, Intelligenzminderung oder Autismus. Das Buch beschreibt die neue, praxisnahe und gut validierte entwicklungsneurologische Untersuchungsmethode SINDA für das erste Lebensjahr (6 Wochen bis 12 Monate). SINDA beurteilt den neurologischen Status, die Entwicklung und das sozioemotionale Verhalten. Die Untersuchung ist umfassend, leicht praktikabel und in kurzer Zeit durchführbar. Alle Untersuchungsitems werden im Buch detailliert beschrieben. Die Untersuchungsbögen zum Manual stehen zum Download zur Verfügung. Anhand zahlreicher Fotos und über 160 Videoclips können das Vorgehen und die Auswertung der Items gut erlernt werden.
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- 2021
12. Entwicklungsneurologie – vernetzte Medizin und neue Perspektiven
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Andreas Schroeder, A. W. Flemmer, Uta Tacke, B. Warken-Madelung, R. M. Giese, H. König, Nikolas Hesse, H. Weigand-Brunnhölzl, Michael Arens, Anne Hilgendorff, and Publica
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Biopsychosocial model ,medicine.medical_specialty ,Pediatrics ,Neurology ,business.industry ,Spontaneous movements ,Birth weight ,Psychosomatic medicine ,Physiology ,General Medicine ,medicine.disease ,General movements ,Cerebral palsy ,03 medical and health sciences ,Psychiatry and Mental health ,0302 clinical medicine ,Premature birth ,030225 pediatrics ,medicine ,Neurology (clinical) ,business ,030217 neurology & neurosurgery - Abstract
Die Entwicklungsneurologie ist einer der großen Bereiche der Kinderneurologie. Sie hat u. a. die (gesetzliche) Aufgabe, mithilfe standardisierter Nachsorgeuntersuchungen die motorische, kognitive und psychosoziale Entwicklung von Frühgeborenen vor der 32. Schwangerschaftswoche (unter 1500 g Geburtsgewicht), ebenso aber auch aller anderen Risikokinder engmaschig und standardisiert zu begleiten. Abweichungen von der ""normalen"" altersentsprechenden Entwicklung sollen durch eine frühestmögliche Diagnosestellung zu einer frühen Therapieeinleitung (""early intervention"") führen und die Langzeitprognose der Patienten positiv beeinflussen. Die hierfür zu Verfügung stehenden Methoden mit Schwerpunkt auf aktuellen Neuentwicklungen werden beleuchtet. Mit einem Fokus auf Früherkennung wird besonders auf den prädiktiven Wert der ""general movements"" (GMs) eingegangen. Dabei wird die fortschreitende Entwicklung der automatisierten, markerlosen Bewegungsanalyse beispielhalft an drei Patienten (gesund vs. genetisches Syndrom vs. Zerebralparese) im Alter von 12 Wochen mithilfe herkömmlicher Tiefenbildkameras veranschaulicht und diskutiert.
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- 2017
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13. Standardized Infant NeuroDevelopmental Assessment developmental and socio-emotional scales
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Joachim Pietz, Mijna Hadders-Algra, Uta Tacke, Heike Philippi, André Rupp, and Extremities Pain and Disability (EXPAND)
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Male ,Predictive validity ,Psychometrics ,CEREBRAL-PALSY ,Diagnostic Techniques, Neurological ,Neurological examination ,CHILDREN ,Child Behavior Disorders ,Neurological disorder ,Self-Control ,03 medical and health sciences ,0302 clinical medicine ,Developmental Neuroscience ,Predictive Value of Tests ,Intellectual Disability ,030225 pediatrics ,Intellectual disability ,medicine ,Humans ,Outpatient clinic ,Affective Symptoms ,NEUROLOGICAL EXAMINATION ,BRAIN ,Psychiatric Status Rating Scales ,Psychomotor learning ,medicine.diagnostic_test ,business.industry ,Infant ,Reproducibility of Results ,Original Articles ,medicine.disease ,Emotional Regulation ,Inter-rater reliability ,Neurodevelopmental Disorders ,Predictive value of tests ,Pediatrics, Perinatology and Child Health ,TESTS ,Original Article ,Female ,Neurology (clinical) ,business ,BASIC CONDITIONS ,030217 neurology & neurosurgery ,Clinical psychology - Abstract
Aim To assess the reliability and predictive validity of the developmental and socio‐emotional scales of the Standardized Infant NeuroDevelopmental Assessment (SINDA). Method To assess reliability, two sets of three assessors forming eight assessor‐pairs independently rated the developmental and socio‐emotional scales of 60 infants. To evaluate predictive validity, 223 infants (gestational age 30wks [range 23–41wks]; 117 males, 106 females) attending a non‐academic outpatient clinic were assessed by different assessors with SINDA’s neurological, developmental, and socio‐emotional scales. Atypical neurodevelopmental outcome at a corrected age of 24 months or older implied a Bayley Mental or Psychomotor Developmental Index score of less than 70 or neurological disorder (including cerebral palsy). Behavioural and emotional disorders were classified according to the International Classification of Diseases, 10th Revision. Predictive values were calculated from SINDA (2–12mo corrected age, median 7mo) and typical versus atypical outcome, and for intellectual disability only (Mental Developmental Index, What this paper adds Standardized Infant NeuroDevelopmental Assessment (SINDA)’s developmental and socio‐emotional scales have excellent interrater reliability.Replication of the satisfactory validity of SINDA’s neurological scale for atypical outcome. This article's abstract has been translated into Spanish and Portuguese. Follow the links from the abstract to view the translations.
- Published
- 2019
14. Das Kind mit Entwicklungstörungen: Frühdiagnostik mit Screeningverfahren
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Mijna Hadders-Algra, Uta Tacke, and Extremities Pain and Disability
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- 2019
15. FV 318. Infant Automated Motion Recognition Technology Using RGB-Depth Sensors for Markerless, Rater-Independent Detection of Abnormal Movements in Early Infancy—In a Motion Project
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Florian Heinen, Raphael Weinberger, Nikolas Hesse, Uta Tacke, Michael Arens, Astrid Blaschek, Katharina Vill, Sebastian Schröder, Christoph Bodensteiner, Anne Schulz, Lucia Gerstl, and Wolfgang Müller-Felber
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business.industry ,Motion recognition ,Medicine ,RGB color model ,Computer vision ,Artificial intelligence ,Early infancy ,business ,University hospital ,Abnormal movements ,Motion (physics) - Published
- 2018
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16. QOL-27. THE PEDIATRIC BRAIN AND SPINE TUMOR CENTER AT THE UNIVERSITY CHILDREN’S HOSPITAL IN BASEL, SWITZERLAND
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Alexandros Papachristofilou, Katrin Scheinemann, Janine Gutzwiller, Friederike Prüfer, Christine Wondrusch, Tamara Diesch, Marianne Heinzelmann, Gabor Szinnai, Uta Tacke, Katja Möschlin, and Raphael Guzman
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Cancer Research ,medicine.medical_specialty ,Abstracts ,Oncology ,business.industry ,Pediatric brain ,General surgery ,medicine ,Center (algebra and category theory) ,Neurology (clinical) ,business - Abstract
Given the complexity of care for children with a CNS tumor a multidisciplinary team approach seems to be the gold standard. Since January 2017 the pediatric brain and spine tumor center has been established, compromised of a multidisciplinary team including neuropediatrics, pediatric neurosurgery, pediatric radiology, radiation oncology, pediatric endocrinology, physio - and occupational therapy, social work and nursing under the leadership of the pediatric neuro-oncologist. All newly diagnosed pediatric CNS tumors as well as all follow up care independent of the treatment received are done for by this team. The multidisciplinary team approach also includes a preoperative discussion and planning for each individual patient as well as a jointly disclosure. A multidisciplinary follow up outpatient clinic takes place twice a month with a tumor board prior to the clinic to discuss all the patients and their different issues. All patients are seen by the needed disciplines. In total 62 patients were seen over a period of 12 months in this clinic with clear improvement of care as well as satisfaction with the care from patients and parents. The center also offers second opinions for patients and parents as well as advice for colleagues from other centers especially in the entity of low grade gliomas. The center also serves as a research platform for clinical as well as basic research projects. The structured implementation of a multidisciplinary team improves significantly the care of pediatric brain tumor patients and close collaboration between medical experts even in a university children’s hospital.
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- 2018
17. Learning an infant body model from RGB-D data for accurate full body motion analysis
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Mijna Hadders-Algra, Ulrich G. Hofmann, Uta Tacke, Christoph Bodensteiner, Nikolas Hesse, Wolfgang Müller-Felber, Raphael Weinberger, Sergi Pujades, Michael Arens, A. Sebastian Schroeder, Michael J. Black, Javier Romero, Fraunhofer Institute of Optronics, System Technologies and Image Exploitation (Fraunhofer IOSB), Fraunhofer (Fraunhofer-Gesellschaft), Max Planck Institute for Intelligent Systems, Max-Planck-Gesellschaft, Institut für informatik [Potsdam], Universität Potsdam, Freiburg University Medical Center, University Hospital Basel [Basel], University Medical Center Groningen [Groningen] (UMCG), Dr von Hauner Children's Hospital [Munich, Germany], and Ludwig-Maximilians-Universität München (LMU)
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Motion analysis ,business.industry ,Computer science ,[INFO.INFO-CV]Computer Science [cs]/Computer Vision and Pattern Recognition [cs.CV] ,Pose tracking ,020207 software engineering ,02 engineering and technology ,Data-driven ,Movement assessment ,Motion (physics) ,03 medical and health sciences ,0302 clinical medicine ,General movement assessment ,0202 electrical engineering, electronic engineering, information engineering ,Cerebral palsy ,Computer vision ,Artificial intelligence ,business ,030217 neurology & neurosurgery ,Body models - Abstract
Infant motion analysis enables early detection of neurodevelopmental disorders like cerebral palsy (CP). Diagnosis, however, is challenging, requiring expert human judgement. An automated solution would be beneficial but requires the accurate capture of 3D full-body movements. To that end, we develop a non-intrusive, low-cost, lightweight acquisition system that captures the shape and motion of infants. Going beyond work on modeling adult body shape, we learn a 3D Skinned Multi-Infant Linear body model (SMIL) from noisy, low-quality, and incomplete RGB-D data. SMIL is publicly available for research purposes at http://s.fhg.de/smil. We demonstrate the capture of shape and motion with 37 infants in a clinical environment. Quantitative experiments show that SMIL faithfully represents the data and properly factorizes the shape and pose of the infants. With a case study based on general movement assessment (GMA), we demonstrate that SMIL captures enough information to allow medical assessment. SMIL provides a new tool and a step towards a fully automatic system for GMA.
- Published
- 2018
18. Group A Streptococcal Suppurative Arthritis and Osteomyelitis of the Shoulder With Brachial Plexus Palsy in a Newborn
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Nicole Ritz, Uta Tacke, Alexa Dierig, and Ulrich Heininger
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Male ,Microbiology (medical) ,Shoulder ,medicine.medical_specialty ,Streptococcus pyogenes ,Arthritis ,medicine.disease_cause ,Group A ,03 medical and health sciences ,0302 clinical medicine ,Streptococcal Infections ,030225 pediatrics ,medicine ,Paralysis ,Humans ,030212 general & internal medicine ,Brachial Plexus Neuropathies ,Arthritis, Infectious ,Palsy ,business.industry ,Osteomyelitis ,Infant, Newborn ,Penicillin G ,medicine.disease ,Anti-Bacterial Agents ,Surgery ,Infectious Diseases ,Anesthesia ,Pediatrics, Perinatology and Child Health ,medicine.symptom ,Complication ,business ,Brachial plexus - Abstract
Osteoarticular infections in the newborn period are rare. A serious complication is paralysis of the affected extremity resulting from either pain or direct involvement of the nerve. We report a newborn with combined osteomyelitis and suppurative arthritis caused by Streptococcus pyogenes presenting with right brachial plexus palsy.
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- 2016
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19. Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay
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Ina Hainmann, Michael Barth, Ingrid Bartsch, Kirstin Sandrock, Anja Busse, Uta Tacke, Barbara Zieger, Andreas Greinacher, Brigitte Strahm, Martin Bommer, Andrea Superti-Furga, Anna Pavlova, Johannes Oldenburg, François Lanza, and Paquita Nurden
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Blood Platelets ,Male ,0301 basic medicine ,medicine.medical_specialty ,Pathology ,Cell Cycle Proteins ,030204 cardiovascular system & hematology ,Biology ,Platelet membrane glycoprotein ,Disease-Free Survival ,Exocytosis ,Bernard–Soulier syndrome ,Factor IX ,03 medical and health sciences ,0302 clinical medicine ,Microscopy, Electron, Transmission ,Internal medicine ,Thrombocytopathy ,Immune Tolerance ,medicine ,Polymicrogyria ,Humans ,Secretion ,Platelet ,Bone Marrow Transplantation ,Sequence Deletion ,Neurons ,chemistry.chemical_classification ,Secretory Pathway ,Secretory Vesicles ,Homozygote ,Bernard-Soulier Syndrome ,Hematology ,Cortical dysplasia ,medicine.disease ,Malformations of Cortical Development ,030104 developmental biology ,Endocrinology ,chemistry ,Child, Preschool ,Glycoprotein ,Septins - Abstract
SummaryThe bleeding disorder Bernard-Soulier syndrome (BSS) is caused by mutations in the genes coding for the platelet glycoprotein GPIb/IX receptor. The septin SEPT5 is important for active membrane movement such as vesicle trafficking and exocytosis in non-dividing cells (i.e. platelets, neurons). We report on a four-year-old boy with a homozygous deletion comprising not only glycoprotein Ibβ (GP1BB) but also the SEPT5 gene, located 5’ to GP1BB. He presented with BSS, cortical dysplasia (polymicrogyria), developmental delay, and platelet secretion defect. The homozygous deletion of GP1BB and SEPT5, which had been identified by PCR analyses, was confirmed by Southern analyses and denaturing HPLC (DHPLC). The parents were heterozygous for this deletion. Absence of GPIbβ and SEPT5 proteins in the patient’s platelets was illustrated using transmission electron microscopy. Besides decreased GPIb/IX expression, flow cytometry analyses revealedimpaired platelet granule secretion. Because the bleeding disorder was extremely severe, the boy received bone marrow transplantation (BMT) from a HLA-identical unrelated donor. After successful engraftment of BMT, he had no more bleedingepisodes. Interestingly, also his mental development improved strikingly after BMT. This report describes for the first time a patient with SEPT5 deficiency presenting with cortical dysplasia (polymicrogyria), developmental delay, and platelet secretion defect.
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- 2011
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20. QOL-26. PLAYFUL SENSORIMOTOR TRAINING TO REDUCE THE SYMPTOMS OF CHEMOTHERAPY-INDUCED PERIPHERAL NEUROPATHY IN PEDIATRIC BRAIN TUMOR PATIENTS- A RANDOMIZED CONTROLLED TRIAL (RESET)
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Uta Tacke, Vanessa Rustler, Patricia Hafner, Katrin Scheinemann, Fiona Streckmann, and Oliver Faude
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Cancer Research ,medicine.medical_specialty ,medicine.diagnostic_test ,business.industry ,law.invention ,Abstracts ,Text mining ,Oncology ,Chemotherapy-induced peripheral neuropathy ,Quality of life ,Randomized controlled trial ,law ,Internal medicine ,Nerve conduction study ,medicine ,Pediatric Brain Tumor ,Neurology (clinical) ,business ,Adverse effect ,Reset (computing) - Abstract
Chemotherapy-induced peripheral neuropathy (CIPN) is a highly prevalent and clinically relevant side-effect of cancer treatment. There are no effective treatment options to reduce the symptoms of CIPN. Promising results have so far been achieved with specific exercise interventions. We would therefore like to conduct a prospective, multicenter, randomized two-armed trial. Patients (n=20) will be recruited. Prior to randomization, all primarily eligible patients that have received a platin derivate or vinca-alkaloid, will be screened for symptoms of CIPN. Eligible patients with a neurologically confirmed CIPN will then be randomized either into an intervention group or a control group. Patients in the intervention group will perform a standardized, age-adjusted, specific playful sensorimotor training program twice a week for 12 weeks in addition to usual care, while the control group receives treatment as usual. Data will be assessed at 3 time points: at baseline, after 12 weeks and after 12 weeks of follow-up. Primary endpoint is the Ped-mTNS score in order to subjectively as well as objectively assess the severity of CIPN symptoms. Additional parameters will be assessed via nerve conduction studies, CIPN related pain, dorsiflexion and knee extension as well as postural control. Furthermore, we will be evaluating patients’ level of physical activity, walk to run transition time, lower limb power as well as their integration in physical education in school and sport club activities. We hypothesize that patients in the intervention group will be able to reduce relevant symptoms of CIPN, improving related physical functions and enhancing children’s social reintegration.
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- 2018
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21. Congenital ocular malformations (lens subluxation, pupillary displacement, cataract, myopia) and classic galactosaemia associated with Q188R and /or G1391A mutations
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Dieter Schmidt, Uta Tacke, Yoon S. Shin, and Claudia Auw-Haedrich
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medicine.medical_specialty ,Pediatrics ,Coloboma ,Visual acuity ,genetic structures ,Corectopia ,business.industry ,General Medicine ,Sister ,medicine.disease ,Compound heterozygosity ,eye diseases ,Surgery ,Ophthalmology ,Cataracts ,medicine ,Iridodonesis ,medicine.symptom ,Abnormality ,business - Abstract
Purpose: Observations of multiple ocular malformations together with heterozygosity for galactosaemia in siblings and homozygosity in one child are highly unusual. In these case histories, a series of investigations in one family are reported. Methods: Members of a family of two brothers and one sister and their children were pre- and post-surgically examined over several years. Blood examination was carried out in a laboratory specializing in investigation into genetic diseases (Dr Podskarbi, Munich). Results: Two brothers and one sister suffered from cataract-induced visual deterioration at 38, 34 and 35 years of age, respectively. All three siblings reported having had bilateral poor vision since early childhood. The three siblings’ parents had no congenital ocular malformations, nor was there any parental consanguinity. One child, the 10-year-old son of the 35-year-old sister, exhibited classic galactosaemia and normal ocular findings. This sister’s other child was healthy. All three siblings presented congenital lens luxa-tion, axial myopia, cataract and iridodonesis. In addition, the 34-year-old brother showed unilateral right corectopia and left coloboma adjacent to the optic disc. The 38-year-old brother revealed myopic fundus changes, but no coloboma. The three siblings experienced a distinct increase in visual acuity after cataract surgery. Both eyes of the patients were partially or distinctly amblyopic, respectively. We assume an autosomal-recessive transmission. Molecular genetic examination of the 10-year-old child with classic galactosaemia showed homozygosity for the mutation Q188R with a complete galactose-1-phosphate-uridyltransferase (GALT) deficiency. Because of his galactose-free diet, the child showed normal values for galactose-1-phosphate. The 35-year-old mother showed compound heterozygosity for Q188R and G1391A (D2/G). The 10-year-old boy’s father also revealed heterozygosity for galactosaemia caused by GALT deficiency. The two children of the 38-year-old brother were heterozygous for G1391A. They did not show any clinical abnormality. None of the family members had clinical signs of Marfan’s syndrome or homocysteinuria. The three siblings’ parents were not consanguineous. Conclusions: Patients with worsening cataracts occurring at a pre-senile age should be examined for galactosaemia. We describe for the first time the molecular genetic findings in congenital ectopia lentis et pupillae. Early treatment in conjunction with a galactose-free diet is mandatory in patients with galactosaemia. Members of a family with heterozygosity for galactosaemia should be advised to attend a human genetic consultation.
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- 2010
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22. Clinical and molecular phenotype of Aicardi-Goutieres syndrome
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Colin D. Ferrie, Johannes S H Vles, Cyril Goizet, Dominique Roland, Alec Aeby, Simon Attard Montalto, Bruce E. Hayward, Yanick J. Crow, Pierre Landrieu, Yong-hui Jiang, Stavit A. Shalev, John P McClure, Willam S Benko, Carlos A. Bacino, Kevin Rostasy, Pam Tomlin, John Dean, Andrew P. Jackson, Catherine Dery, Helen Cox, Peter Corry, John Tolmie, Daniel R. Carvalho, Sameer M. Zuberi, Sunita Seal, Bruno Barroso, Federica Vagnarelli, Margo L. Whiteford, Sally Ann Lynch, Giovanni Lanzi, Hans-Jurgen Christen, Enrico Bertini, Suzanna G.M. Frints, Gyan P Sinha, Bernhard Weschke, Amy Kao, Ken K. Nischal, Kate Chandler, Raphael Schiffmann, Ben C.J. Hamel, Simona Orcesi, Andrew Green, Blanca Gener, Pierre Lebon, Daphna Marom, R. Curtis Rogers, Gillian I. Rice, Ian M. Carr, Agnes Guet, C Sierra Corcoles, Raoul C.M. Hennekam, Sabine Scholl-Bürgi, Teresa Patrick, Claire F Taylor, Dieter Kotzot, Mary D. King, Evangeline Wassmer, Claudine De Praeter, Nathalie Van der Aa, Christopher J. Burke, Edward Blair, Wilfried Kratzer, Han G. Brunner, Marianne Till, Marie-Laure Moutard, Lieven Lagae, Adeline Vanderver, Frances M. Cowan, Andrea Leitch, Julie S. Prendiville, Didier Lacombe, Michèl A.A.P. Willemsen, E G Hermione Lyall, Thomas Voit, Rekha Parmar, John R. Østergaard, Tracy A Briggs, John H. Livingston, Doriette Soler, Andrew J. Kornberg, Marie Husson, Marjo S. van der Knaap, Francoise Goutieres, Enza Maria Valente, Arvid Heiberg, Helen Kingston, John B.P. Stephenson, Joerg Klepper, Serge B. Melançon, Peter Baxter, Amparo Sanchis, Louise Brueton, Andreas Zankl, Elisa Fazzi, Rasieka Jayatunga, David T. Bonthron, Michael J. Lyons, Stefano D'Arrigo, Uta Tacke, Elisabeth Rosser, Carsten Bergmann, Agathe Roubertie, Kim Flintoff, Ronen Spiegel, Rudy Van Coster, Roberta Biancheri, Tiong Yang Tan, Corinne De Laet, Jean Aicardi, Sarina G. Kant, Magnhild Rasmussen, Robert McWilliam, Charles Marques Lourenço, Leena D Mewasingh, Angels García-Cazorla, Rafael Artuch, Nenad Blau, Ming K. Lim, ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Paediatric Genetics, Pediatric surgery, Leeds Institute of Molecular Medicine, St. James's University Hospital, Mutation Detection Facility, Leeds General Infirmary, Erasme Hospital, Children's Hospital Queen Fabiola, Hôpital Trousseau, Hôpital Bicêtre, Groupe Hospitalier Pitié-Salpêtrière, Hôpital Cochin-St. Vincent de Paul, Hospital Sant Joan de Déu-Ciberer, St. Luke's Hospital, Baylor College of Medicine, Centre Hospitalier, Children's Hospital, National Institutes of Health, RWTH Aachen University, Bambino Gesù Children's Research Hospital, Mendel Institute, G. Gaslini Institute, Churchill Hospital, University Children's Hospital, Birmingham Women's Hospital, Sandwell and West Birmingham NHS Trust, Birmingham Children's Hospital, Radboud University, Royal Children's Hospital, Universidade Estadual Paulista (Unesp), St. Mary's Hospital, Kinderkrankenhaus Auf der Bult, Bradford National Health Service (NHS) Trust, Fondazione Istituto Neurologico C. Besta, Grampian Clinical Genetics Centre, University Hospital, Maastricht University Hospital, Great Ormond Street Hospital, Guy's and St. Thomas' NHS Trust, Université Laval Medical School, Hospital de Cruces, Centre Hospitalier Universitaire Pellegrin Enfants, Our Lady's Hospital, Children's University Hospital, Rikshospitalet-Radiumhospitalet, Academic Medical Center, Vrije Universiteit Medical Center, Western General Hospital, Leiden University Medical Center, Oregon Health and Science University, Klinikum Aschaffenburg, Medical University Innsbruck, Children's Hospital Innsbruck, Klinik für Kinder und Jugendliche, University Hospitals of Gasthuisberg, IRCCS Casimiro Mondino Institute of Neurology, Universidade de São Paulo (USP), Greenwood Genetic Center, Rabin Medical Center, Crosshouse Hospital, Royal Hospital for Sick Children, Montreal Children's Hospital, University Hospitals of Leicester NHS Trust, University Hospital of Aarhus, British Columbia's Children's Hospital, Institut de Pathologie et de Génétique, Guide Chauliac Hospital, Hospital Universitario Doctor Peset, Ha'Emek Medical Center, Technion, Complejo Hospitalario de Jean, Manor Hospital, Hôpital Debrousse, Lancashire Teaching Hospitals Trust, Arcispedale Santa Maria Nuova, Center for Medical Genetics, Children's National Medical Center, Humboldt University, and Wellcome Trust Brenner Building
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Male ,Genetics and epigenetic pathways of disease [NCMLS 6] ,genotype ,DNA Mutational Analysis ,Medizin ,medicine.disease_cause ,Locus heterogeneity ,mutator gene ,Genotype ,Missense mutation ,Genetics(clinical) ,Child ,Genetics (clinical) ,Ribonuclease H, Calf Thymus ,Genetics ,Mutation ,Brain ,Calcinosis ,genetic screening ,Syndrome ,humanities ,Aicardi Goutieres syndrome ,Chilblains ,Phenotype ,priority journal ,Child, Preschool ,RNASEH2A gene ,TREX1 gene ,Female ,Functional Neurogenomics [DCN 2] ,Adult ,RNASEH2B gene ,Adolescent ,phenotype ,Ribonuclease H ,Molecular Sequence Data ,Lymphocytosis ,Biology ,gene frequency ,Article ,Aicardi syndrome ,Genomic disorders and inherited multi-system disorders [IGMD 3] ,pedigree analysis ,Basal Ganglia Diseases ,RNASEH2C gene ,medicine ,Humans ,controlled study ,human ,Allele frequency ,gene identification ,missense mutation ,Infant, Newborn ,Infant ,nucleotide sequence ,medicine.disease ,Phosphoproteins ,major clinical study ,mortality ,Neuromuscular development and genetic disorders [UMCN 3.1] ,congenital infection ,Exodeoxyribonucleases ,Genetic defects of metabolism [UMCN 5.1] ,Immunology ,Endonuclease complex ,Aicardi–Goutières syndrome ,Human medicine - Abstract
Submitted by Vitor Silverio Rodrigues (vitorsrodrigues@reitoria.unesp.br) on 2014-05-27T11:22:37Z No. of bitstreams: 0Bitstream added on 2014-05-27T14:33:38Z : No. of bitstreams: 1 2-s2.0-35349019691.pdf: 4144234 bytes, checksum: 9b86846640bd2e66375c65e289357bd0 (MD5) Made available in DSpace on 2014-05-27T11:22:37Z (GMT). No. of bitstreams: 0 Previous issue date: 2007-10-24 Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3′→5′ exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, and RNASEH2C were observed in 31, 3, 47, and 18 families, respectively. In five families, we identified an RNASEH2A or RNASEH2B mutation on one allele only. In one child, the disease occurred because of a de novo heterozygous TREX1 mutation. In 22 families, no mutations were found. Null mutations were common in TREX1, although a specific missense mutation was observed frequently in patients from northern Europe. Almost all mutations in RNASEH2A, RNASEH2B, and RNASEH2C were missense. We identified an RNASEH2C founder mutation in 13 Pakistani families. We also collected clinical data from 123 mutation-positive patients. Two clinical presentations could be delineated: an early-onset neonatal form, highly reminiscent of congenital infection seen particularly with TREX1 mutations, and a later-onset presentation, sometimes occurring after several months of normal development and occasionally associated with remarkably preserved neurological function, most frequently due to RNASEH2B mutations. Mortality was correlated with genotype; 34.3% of patients with TREX1, RNASEH2A, and RNASEH2C mutations versus 8.0% RNASEH2B mutation-positive patients were known to have died (P = .001). Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified. © 2007 by The American Society of Human Genetics. All rights reserved. Leeds Institute of Molecular Medicine, Leeds DNA Laboratory Department of Clinical Genetics St. James's University Hospital, Leeds Cancer Research UK Mutation Detection Facility, Leeds Department of Paediatric Neurology Leeds General Infirmary, Leeds Department of Paediatric Neurology Erasme Hospital, Brussels Children's Hospital Queen Fabiola, Brussels Service de Neuropédiatrie Hôpital Trousseau Department of Paediatric Neurology Hôpital Trousseau Pediatric Neurology Department Hôpital Bicêtre Institut de Myologie Groupe Hospitalier Pitié-Salpêtrière Service de Virologie Hôpital Cochin-St. Vincent de Paul, Paris Department of Clinical Biochemistry Hospital Sant Joan de Déu-Ciberer, Barcelona Department of Barcelona Pediatric Neurology Hospital Sant Joan de Déu-Ciberer, Barcelona Department of Paediatrics St. Luke's Hospital, Guardamangia Department of Molecular and Human Genetics Baylor College of Medicine, Houston Serive de Neurologie Centre Hospitalier, Pau Department of Paediatrics Children's Hospital, Sheffield Developmental and Metabolic Neurology Branch National Institute of Neurological Disorders and Stroke National Institutes of Health, Bethesda Department of Human Genetics Rheinisch-Westfälische Technische Hochschule Aachen University, Aachen Unit of Molecular Medicine Bambino Gesù Children's Research Hospital, Rome Istituto di Ricerca e Cura a Carattere Scientifico (IRCCS) Casa Sollievo Della Sofferenza Mendel Institute, Rome Muscular and Neurodegenerative Disease Unit G. Gaslini Institute, Genova Department of Clinical Genetics Churchill Hospital, Oxford Division of Clinical Chemistry and Biochemistry University Children's Hospital, Zurich Clinical Genetics Unit Birmingham Women's Hospital, Birmingham Department of Paediatrics Sandwell and West Birmingham NHS Trust, Birmingham Neurology Department Birmingham Children's Hospital, Birmingham Department of Human Genetics Radboud University, Nijmegen Department of Pediatric Neurology Radboud University, Nijmegen Department of Paediatric Neurology Royal Children's Hospital, Brisbane, QLD Genetic Health Queensland Royal Children's Hospital, Brisbane, QLD Serviço de Aconselhamento Genético Universidade Estadual de São Paulo, Botucatu Academic Unit of Medical Genetics St. Mary's Hospital, Manchester Kinderkrankenhaus Auf der Bult, Hannover Department of Paediatrics Bradford National Health Service (NHS) Trust, Bradford Developmental Neurology Department Fondazione Istituto Neurologico C. Besta, Milan Grampian Clinical Genetics Centre, Aberdeen Department of Neonatology University Hospital, Ghent Department of Pediatrics University Hospital, Ghent Department of Clinical Genetics Maastricht University Hospital, Maastricht Department of Neurology Maastricht University Hospital, Maastricht Department of Paediatrics and Imaging Sciences Imperial College Great Ormond Street Hospital, London St. Mary's NHS Trust Great Ormond Street Hospital, London Department of Ophthalmology Great Ormond Street Hospital, London North East Thames Regional Genetics Service Great Ormond Street Hospital, London Evelina Children's Hospital Guy's and St. Thomas' NHS Trust, London Department of Paediatrics Université Laval Medical School, Québec Clinical Genetics Unit Hospital de Cruces, Baracaldo Service de Génétique Médicale Centre Hospitalier Universitaire Pellegrin Enfants, Bordeaux Unité de Neurologie de l'Enfant et de l'Adolescent Centre Hospitalier Universitaire Pellegrin Enfants, Bordeaux National Centre for Medical Genetics Our Lady's Hospital, Dublin Department of Paediatric Neurology Children's University Hospital, Dublin Department of Medical Genetics Rikshospitalet-Radiumhospitalet, Oslo Department of Paediatrics Rikshospitalet-Radiumhospitalet, Oslo Rikshospitalet-Radiumhospitalet, Oslo Department of Pediatrics Academic Medical Center, Amsterdam Department of Child Neurology Vrije Universiteit Medical Center, Amsterdam Medical Research Council Human Genetics Unit Western General Hospital, Edinburgh Department of Clinical Genetics Leiden University Medical Center, Leiden Division of Pediatric Neurology Oregon Health and Science University, Portland, OR Pediatric Neurology Klinikum Aschaffenburg, Aschaffenburg Department of Neurology Royal Children's Hospital, Parkville, Vic. Division of Clinical Genetics Department for Medical Genetics Medical University Innsbruck, Innsbruck Department of Pediatrics Division of Pediatric Neurology and Inborn Errors of Metabolism Children's Hospital Innsbruck, Innsbruck Klinik für Kinder und Jugendliche, Konstanz Paediatric Neurology University Hospitals of Gasthuisberg, Leuven Department of Child Neurology and Psychiatry IRCCS Casimiro Mondino Institute of Neurology, Pavia Department of Neurogenetics School of Medicine of Ribeirao Preto, Ribeirao Preto Greenwood Genetic Center, Greenwood, SC Raphael Recanati Genetic Institute Rabin Medical Center, Petach-Tikva Department of Paediatrics Crosshouse Hospital, Ayr Fraser of Allander Neurosciences Unit Royal Hospital for Sick Children, Glasgow Duncan Guthrie Institute of Medical Genetics Royal Hospital for Sick Children, Glasgow Division of Medical Genetics Montreal Children's Hospital, Montreal Department of Paediatric Neurology University Hospitals of Leicester NHS Trust, Leicester University Hospital of Aarhus, Aarhus Division of Pediatric Dermatology British Columbia's Children's Hospital, Vancouver, BC Institut de Pathologie et de Génétique, Gosselies Pediatric Neurology Department Guide Chauliac Hospital, Montpellier Servicio de Pediatría Hospital Universitario Doctor Peset, Valencia Genetic Institute Ha'Emek Medical Center, Afula Rappaport Faculty of Medicine Technion, Haifa Neuropediatrics Unit Complejo Hospitalario de Jean, Jean Department of Paediatrics Manor Hospital, Walsall Division of Neuropediatrics University Hospital, Freiburg Genetic Health Services Victoria Royal Children's Hospital, Vic. Service de Génétique Hôpital Debrousse, Lyon Lancashire Teaching Hospitals Trust, Preston Neonatal Intensive Care Unit Arcispedale Santa Maria Nuova, Reggio Emilia Center for Medical Genetics, Antwerp Department of Neurology Children's National Medical Center, Washington, DC Department of Neuropediatrics Humboldt University, Berlin Leeds Institute of Molecular Medicine St. James's University Hospital Wellcome Trust Brenner Building, Leeds LS9 7TF Serviço de Aconselhamento Genético Universidade Estadual de São Paulo, Botucatu
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- 2007
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23. Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
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Marlène Rio, Vincent Laugel, Christine Barnerias, Vijay Aswani, Guillermo Agosta, Rachel Straussberg, Diana Chase, Maja Di Rocco, Mohamed S. Abdel-Hamid, Daniel R. Carvalho, Montse Arellano, Maya Thomas, Yanick J. Crow, Giovanni Crichiutti, Lyvia Dabydeen, Miriam Bloom, Kathryn J. Swoboda, Bertrand Isidor, Kevin J. Murray, Nasaim Khan, Agathe Roubertie, Kathryn Bailey, Johanna Lowenstein Schmidt, Noemi Nunez-Enamorado, Venkateswaran Ramesh, Simona Orcesi, Michael C Fahey, Keng Wee Teik, Ram L. Kumar, Gabriella Forte, Roberta Battini, Alec Aeby, Flore Rozenberg, Nadia Bahi-Buisson, Eileen Baildam, Sam Ackroyd, Magnhild Rasmussen, Doriette Soler, Diana Rodriguez, Marjo S. van der Knaap, Sheela Nampoothiri, Bülent Kara, Ivana Olivieri, Julie Vogt, Julie S. Prendiville, Ghada M H Abdel-Salam, Thierry Billette de Villemeur, Ronen Spiegel, Tommy Stödberg, Rudy Van Coster, Marianne Till, Alberto B. Burlina, Enza Maria Valente, Patrick J. Oades, Gyanranjan P. Sinha, Beverley Anderson, William P Whitehouse, Raymon Vijzelaar, Liesbeth De Waele, Cristina Cereda, Hannah J. Webb, Gillian I. Rice, Geneviève Bernard, Anthony Oojageer, Stefano D'Arrigo, Ming K. Lim, Donncha Hanrahan, Nuno Cordeiro, Adeline Vanderver, Hannah Gornall, Manuel Castro-Gago, Johann te Water Naude, Grace Vassallo, Stavit Allon-Shalev, Belén Pérez-Dueñas, Charles Marques Lourenço, Sameer M. Zuberi, Magalie Barth, Lieven Lagae, Cyril Goizet, Christian de Goede, Tiong Yang Tan, Jenny Morton, Riyana Babul-Hirji, Mark T Mackay, Geoffrey Wallace, Elisabetta Salvatici, Heinz Lauffer, Corinne De Laet, Federica Ricci, Russell C. Dale, Maria Luisa Carpanelli, Catherine Albin, Elisa Fazzi, Michael W. Beresford, Pierre Lebon, Abigail Collins, Roberta La Piana, Amy Pizzino, Edward Blair, Nirmala Rani Gowrinathan, Mohnish Suri, Rima Nabbout, Guy Helman, Luc Régal, Karin Segers, John H. Livingston, Davide Tonduti, Uta Tacke, António Figueiredo, Robyn Whitney, Blanca Gener, John R. Østergaard, David Chitayat, Kalpana Gowrishankar, Tarja Linnankivi, Edwin P. Kirk, Jean-Pierre Lin, Pierre Landrieu, Isabella Moroni, Mary D. King, Colin D. Ferrie, Koenraad Devriendt, Anna Cavallini, Shane McKee, Marika Bianchi, Daphna Marom, Marcin Szynkiewicz, Isabelle Desguerre, Evangeline Wassmer, Kate Chandler, Maha S. Zaki, Inés Denzler, Giada Ariaudo, Marie Laure Moutard, Concepcion Sierra Corcoles, Pediatric surgery, NCA - Brain mechanisms in health and disease, Neuroscience Campus Amsterdam - Brain Mechanisms in Health & Disease, and Other departments
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Interferon-Induced Helicase, IFIH1 ,Adenosine Deaminase ,Autoimmune diseases ,Fenótipo ,Disease ,Aicardi–Goutieres syndrome ,Aicardi-Goutières syndrome ,Bilateral striatal necrosis ,DEAD-box RNA Helicases ,0302 clinical medicine ,Genetics (clinical) ,0303 health sciences ,Doenças auto-imunes do sistema nervoso ,3. Good health ,Phenotype ,Spastic paraparesis ,Biomarker (medicine) ,Vasculitis ,bilateral striatal necrosis ,spastic paraparesis ,type I interferon ,interferon signature ,Genotype ,Encephalopathy ,Ribonuclease H ,Alpha interferon ,Biology ,Nervous System Malformations ,Article ,SAM Domain and HD Domain-Containing Protein 1 ,03 medical and health sciences ,Autoimmune Diseases of the Nervous System ,SDG 3 - Good Health and Well-being ,Interferon signature ,Type I interferon ,Exodeoxyribonucleases ,Genetic Association Studies ,Humans ,Interferons ,Monomeric GTP-Binding Proteins ,Phosphoproteins ,Pterins ,Mutation ,Genetics ,medicine ,Chilblains ,030304 developmental biology ,Aicardi-Goutieres syndromebilateral striatal necrosisspastic paraparesistype I interferoninterferon signature ,medicine.disease ,Peripheral neuropathy ,Immunology ,Aicardi–Goutières syndrome ,030217 neurology & neurosurgery - Abstract
Aicardi-Goutieres syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these seven genes. Most patients conformed to one of two fairly stereotyped clinical profiles; either exhibiting an in utero disease-onset (74 patients; 22.8% of all patients where data were available), or a post-natal presentation, usually within the first year of life (223 patients; 68.6%), characterized by a sub-acute encephalopathy and a loss of previously acquired skills. Other clinically distinct phenotypes were also observed; particularly, bilateral striatal necrosis (13 patients; 3.6%) and non-syndromic spastic paraparesis (12 patients; 3.4%). We recorded 69 deaths (19.3% of patients with follow-up data). Of 285 patients for whom data were available, 210 (73.7%) were profoundly disabled, with no useful motor, speech and intellectual function. Chilblains, glaucoma, hypothyroidism, cardiomyopathy, intracerebral vasculitis, peripheral neuropathy, bowel inflammation and systemic lupus erythematosus were seen frequently enough to be confirmed as real associations with the Aicardi-Goutieres syndrome phenotype. We observed a robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferon-stimulated gene transcripts in peripheral blood. We recorded a positive correlation between the level of cerebrospinal fluid interferon activity assayed within one year of disease presentation and the degree of subsequent disability. Interferon-stimulated gene transcripts remained high in most patients, indicating an ongoing disease process. On the basis of substantial morbidity and mortality, our data highlight the urgent need to define coherent treatment strategies for the phenotypes associated with mutations in the Aicardi-Goutieres syndrome-related genes. Our findings also make it clear that a window of therapeutic opportunity exists relevant to the majority of affected patients and indicate that the assessment of type I interferon activity might serve as a useful biomarker in future clinical trials. (c) 2015 Wiley Periodicals, Inc
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- 2015
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24. Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease
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Heymut Omran, Dimitrios I. Zafeiriou, Andrea Fekete, E. Vargiami, H. Olbrich, Stewart J. Payne, S. Ziyeh, Jörn Oliver Sass, Wim J. Kleijer, S. Fisher, Uta Tacke, M. Rolland, Judith Horvath, and Clinical Genetics
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Male ,medicine.medical_specialty ,Adolescent ,Canavan Disease ,Genotype ,DNA Mutational Analysis ,Gangliosidosis ,Compound heterozygosity ,Amidohydrolases ,Internal medicine ,Retinitis pigmentosa ,medicine ,Humans ,Child ,business.industry ,Leukodystrophy ,Macrocephaly ,General Medicine ,medicine.disease ,Magnetic Resonance Imaging ,Canavan disease ,Aspartoacylase ,Endocrinology ,Phenotype ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Mutation ,Female ,Neurology (clinical) ,medicine.symptom ,Aspartoacylase activity ,business - Abstract
Canavan disease is characterised as a rare, neurodegenerative disease that usually causes death in early childhood. It is an autosomal recessive disorder due to an aspartoacylase (ASPA) deficiency. The causative gene has been mapped to chromosome 17 pter-p13. Here we describe three affected children from two Greek families with an unusually mild course of Canavan disease. All children presented with muscular hypotonia and macrocephaly. Diagnosis was based on elevated N-acetylaspartate in urine, reduced aspartoacylase activity in fibroblasts, and marked white matter changes on cerebral imaging. All three affected individuals exhibited continuous psychomotor development without any regression. Genetic analyses revealed compound heterozygous mutations (Y288 C; F295 S) in two individuals. The Y288 C variant was previously described in a child with macrocephaly, mild developmental delay, increased signal intensity in the basal ganglia, partial cortical blindness and retinitis pigmentosa, and slightly elevated N-acetylaspartate in the urine. Demonstration of the same variant in two unusually mildly affected Canavan disease patients and absence of this variant in 154 control chromosomes suggest a possible pathogenic role in mild Canavan disease. In the third individual, two homozygous sequence variants were identified, which comprise the known G274R mutation and a novel K213E variant.
- Published
- 2005
25. The development of childhood asthma: lessons from the German Multicentre Allergy Study (MAS)
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Susanne, Lau, Renate, Nickel, Bodo, Niggemann, Christoph, Grüber, Christine, Sommerfeld, Sabina, Illi, Michael, Kulig, Johannes, Forster, Ulrich, Wahn, Marketa, Groeger, Fred, Zepp, Wolfgang, Kamin, Imke, Bieber, Uta, Tacke, Volker, Wahn, Carl-Peter, Bauer, Renate, Bergmann, and Erika, von Mutius
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Pulmonary and Respiratory Medicine ,medicine.medical_specialty ,Pediatrics ,Allergy ,Tobacco smoke ,Cohort Studies ,Germany ,Wheeze ,Epidemiology ,Prevalence ,Animals ,Humans ,Multicenter Studies as Topic ,Medicine ,Early childhood ,Respiratory sounds ,Young adult ,Child ,Respiratory Sounds ,Asthma ,Mites ,medicine.diagnostic_test ,business.industry ,Infant, Newborn ,medicine.disease ,respiratory tract diseases ,Social Class ,Pediatrics, Perinatology and Child Health ,Bronchial Hyperreactivity ,medicine.symptom ,business - Abstract
Epidemiological surveys have indicated that there has been a notable increase in the prevalence of both asthma and other allergic symptoms in children and young adults. Since it seems unlikely that genetic factors would contribute to the rising trend, environmental factors might play a major part in the development of childhood asthma. In a prospective birth-cohort study, we assessed the relevance of different exposures such as mite and cat allergen exposure, environmental tobacco smoke (ETS) exposure, early infectious diseases and vaccinations for the development of childhood asthma up to the age of 10 years. Data up to 7 years of age have been evaluated. Of 1314 newborn infants enrolled in five German cities in 1990, follow-up data at age 7 years were available for 939 children (72%). Assessments included repeated measurements of specific IgE to food and inhalant allergens, measurement of indoor allergen exposure at 6 months, 18 months and 3 years of age and yearly interviews by a paediatrician. At age 7 years, pulmonary function was tested and bronchial responsiveness was determined in 645 children. At age 7, the prevalence of wheezing in the past 12 months was 10% (94 out of 938), and 6.1% (57 out of 939) parents reported a doctor's diagnosis of asthma in their children. Sensitisation to indoor allergens was associated with asthma, wheeze and increased bronchial responsiveness. However, no relationship between early indoor allergen exposure and the prevalence of asthma, wheeze and bronchial responsiveness was seen. During the first 3 years of life, intra-uterine tobacco and consistent ETS exposure have an adjuvant effect on allergic sensitisation that is transient and restricted to children with a genetic predisposition for allergy. Children sensitised to any allergen early in life and sensitised to inhalant allergens by the age of 7 years were at a significantly increased risk of being asthmatic at this age (odds ratio (OR) = 10.12; 95% confidence interval (CI) = 3.81-26.88). Children with repeated episodes (> or =2) of runny nose before the age of 1 year were less likely to develop asthma by the age of 7 years (OR = 0.52; 95% CI = 0.29-0.92). Our data do not support the hypothesis that exposure to environmental allergens directly causes asthma in childhood but that induction of specific IgE responses and the development of childhood asthma are determined by independent factors. Indoor allergen avoidance is recommended as first line treatment in secondary and tertiary prevention; however, conclusions should be drawn with caution about the possible effect of primary preventative measures. Since allergic asthma seems to be a Th2-disease, immunomodulating factors such as early childhood infections, LPS-exposure or other factors influencing gene-environment interaction and individual susceptibility seem to be relevant for the development of childhood asthma
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- 2002
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26. Natural course of sensitization to food and inhalant allergens during the first 6 years of life
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Ulrich Wahn, Michael Kulig, Uta Tacke, Volker Wahn, Uwe Klettke, and Renate L. Bergmann
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Allergy ,Immunology ,Prevalence ,medicine.disease_cause ,Cohort Studies ,Allergic sensitization ,Allergen ,medicine ,Humans ,Immunology and Allergy ,Prospective Studies ,Child ,Prospective cohort study ,Sensitization ,Family Health ,Air Pollutants ,business.industry ,Incidence ,Incidence (epidemiology) ,Infant, Newborn ,Infant ,Aeroallergen ,Allergens ,Immunoglobulin E ,Fetal Blood ,medicine.disease ,medicine.anatomical_structure ,Air Pollution, Indoor ,Child, Preschool ,Immunization ,Milk Hypersensitivity ,business ,Food Hypersensitivity - Abstract
Background: Specific IgE antibody responses to alimentary and environmental allergens are one of the hallmarks of atopic diseases. The knowledge of the time course of allergic sensitization during early life may facilitate measures for preventive interventions. Objective: In a prospective birth cohort study (the Multicenter Allergy Study [MAS]) we investigated annual incidence and prevalence rates of sensitization to food and inhalant allergens during the first 6 years of life. Methods: For 216 children of a prospective birth cohort (MAS), a complete follow-up of specific IgE measurements to 9 food and inhalant allergens was available at 1, 2, 3, 5, and 6 years of age. On the basis of these measurements, sensitization rates were estimated for the reference population of 4082 children by weighted analysis. Results: Annual incidence rates of sensitization to food allergens decreased from 10% at 1 year of age to 3% at the 6 years of age. Incidences of sensitization to inhalant allergen, however, increased with age (from 1.5% at 1 year to 8% at 6 years). Point prevalences of allergic sensitization to at least 1 of the 9 tested allergens increased from 11% at 1 year up to 30% at 6 years. This increase was due to markedly increasing sensitization rates to inhalant allergens (1.5% to at least 1 inhalant allergen at 1 year and 26% at 6 years of age), whereas sensitization rates to food allergens remained stable during the first 6 years of life (10%). Conclusion: The earliest serologic marker for atopic immunoreactivity in infancy is the presence of IgE antibodies to egg, followed by milk. The development of sensitization to inhalant allergens occurs mostly after infancy. Beyond the third birthday annual incidence and prevalence increase markedly with age. Rates for outdoor allergens are twice those for indoor allergens. (J Allergy Clin Immunol 1999;103:1173-9.)
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- 1999
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27. Serum IgE levels during the first 6 years of life
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Johannes Forster, Fred Zepp, Gunther Edenharter, Renate L. Bergmann, Uta Tacke, Volker Wahn, Michael Kulig, Susanne Lau, and Ulrich Wahn
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Hypersensitivity, Immediate ,Male ,Aging ,Pediatrics ,medicine.medical_specialty ,Population ,Immunoglobulin E ,Atopy ,medicine ,Humans ,Multicenter Studies as Topic ,Prospective Studies ,Family history ,Child ,education ,Prospective cohort study ,Sex Characteristics ,education.field_of_study ,biology ,business.industry ,Infant, Newborn ,Case-control study ,Infant ,Fetal Blood ,medicine.disease ,ROC Curve ,Case-Control Studies ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Cohort ,biology.protein ,Female ,business ,Sex characteristics - Abstract
Objective: Total serum IgE percentiles were derived for a population-based sample of 4082 white children from Germany by weighted analysis of measurements from the Multicenter Allergy Study cohort. Methods: The children of a prospective birth cohort were selected from a complete 1-year sample of newborns in 6 obstetric departments in 1990. Total IgE was determined at 1, 2, 3, 5, and 6 years of age in 1160 newborns of the cohort. By weighting these measurements for sex, atopic family history, and elevated cord blood IgE, total serum IgE percentiles were estimated for the original population-based sample of 4082 children. Results: IgE levels increased by age (P < .0001). We found statistically significant higher total IgE values in boys than in girls at each age (P < .05). Within the group of atopic children, this sex difference was not statistically significant. Conclusion: Our estimates of total serum IgE levels for a large population-based sample were lower than most values previously reported. We suggest that for both clinical and epidemiologic and genetic studies, IgE values should be expressed with percentiles. (J Pediatr 1999;134:453-8)
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- 1999
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28. Long-lasting sensitization to food during the first two years precedes allergic airway disease
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Uta Tacke, Michael Kulig, Renate L. Bergmann, Ulrich Wahn, and Irene Guggenmoos-Holzmann
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Allergy ,biology ,business.industry ,Immunology ,medicine.disease ,Immunoglobulin E ,medicine.disease_cause ,Atopy ,Allergen ,medicine.anatomical_structure ,Pediatrics, Perinatology and Child Health ,medicine ,biology.protein ,Immunology and Allergy ,Prospective cohort study ,business ,Sensitization ,Cohort study ,Asthma - Abstract
The purpose of the study was to investigate whether the duration of sensitization to food allergens during early childhood is related to later development of IgE mediated hypersensitivity to inhalant allergens and of allergic rhinitis and asthma in 5-year-old children and whether long-lasting food-sensitization may be used to predict subsequent allergic airway diseases. Five hundred and eight children of a prospective birth cohort study with available serum samples at one and two years of age were included and followed up until five years of age. Specific sensitization to food and inhalant allergens and the occurrence of subsequent allergic airway diseases were determined. Children with a long-lasting sensitization to food allergens (persistently sensitized for more than one year) produced significantly higher total IgE and specific IgE levels than children who were only transiently food-sensitized by two years of age. Children persistently sensitized to food had a 3.4 fold higher risk of developing allergic rhinitis and a 5.5 fold higher risk of developing asthma than infants who were only transiently food sensitized. Persistent food sensitization in combination with a positive atopic family history was a strong predictor for the development of allergic rhinitis and asthma at five years of age. The risks for these children are up to 50%, and 67% respectively. Persistently detectable sensitization to food over more than one year in early childhood is a strong prognostic factor for subsequent allergic airway disease. Persistently food-sensitized children especially in atopic families have to be regarded as a high-risk group and should be considered for preventive measures against respiratory atopy.
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- 1998
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29. Mutations in antiquitin in individuals with pyridoxine-dependent seizures
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Uta Tacke, Heymut Omran, Peter Baxter, Cornelis Jakobs, Matthias R. Baumgartner, Birgit Uhlenberg, Michèl A.A.P. Willemsen, Barbara Plecko, Philippa B. Mills, Bernhard Weschke, Eduard A. Struys, and Peter E. Clayton
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Heterozygote ,Proline ,PNPO ,Aldehyde dehydrogenase ,Dehydrogenase ,CHO Cells ,General Biochemistry, Genetics and Molecular Biology ,Epilepsy ,chemistry.chemical_compound ,Cricetulus ,Bacterial Proteins ,Seizures ,Cricetinae ,medicine ,Animals ,Humans ,Child ,Gene ,Pyridoxal ,Pyridoxine-dependent epilepsy ,Genetics ,Oxidoreductases Acting on CH-NH Group Donors ,biology ,Homozygote ,Pyridoxine ,Heterozygote advantage ,Exons ,General Medicine ,Aldehyde Dehydrogenase ,medicine.disease ,Molecular biology ,Neuromuscular development and genetic disorders [UMCN 3.1] ,chemistry ,Child, Preschool ,Pipecolic Acids ,Pyridoxal Phosphate ,Mutation ,biology.protein - Abstract
Contains fulltext : 50019.pdf (Publisher’s version ) (Closed access) We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 gene, which encodes antiquitin; these mutations abolish the activity of antiquitin as a delta1-piperideine-6-carboxylate (P6C)-alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase. The accumulating P6C inactivates pyridoxal 5'-phosphate (PLP) by forming a Knoevenagel condensation product. Measurement of urinary alpha-AASA provides a simple way of confirming the diagnosis of PDS and ALDH7A1 gene analysis provides a means for prenatal diagnosis.
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- 2006
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30. Respiratory syncytial virus infection: its role in aeroallergen sensitization during the first two years of life
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Johannes Forster, Schulz J, Hermann Werchau, Bergmann Rl, H Krebs, Uta Tacke, Ulrich Wahn, H. J. Streckert, and Lau S
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Hypersensitivity, Immediate ,Allergy ,Immunology ,Eczema ,Respiratory Syncytial Virus Infections ,Antibodies, Viral ,Poaceae ,medicine.disease_cause ,Immunoglobulin E ,Atopy ,Allergic sensitization ,Allergen ,medicine ,Animals ,Humans ,Multicenter Studies as Topic ,Immunology and Allergy ,Sensitization ,Air Pollutants ,Mites ,biology ,business.industry ,Infant, Newborn ,Infant ,Aeroallergen ,Allergens ,Conjunctivitis ,medicine.disease ,Immunoglobulin Isotypes ,medicine.anatomical_structure ,Bronchiolitis ,Pediatrics, Perinatology and Child Health ,biology.protein ,Pollen ,Immunization ,Seasons ,business ,Food Hypersensitivity - Abstract
Our aim was to study the influence of infection with the respiratory syncytial virus (RSV) in non-hospitalized infants on sensitization to aeroallergens and the early manifestation of atopy. Six hundred and nine infants from the prospective German Multicenter Cohort Study on Atopy were included, 38% of whom had an elevated atopic risk. RSV IgG and IgM antibodies were tested by ELISA with gradient purified RSV antigen. Specific IgE against mites, cat dandruff, birch and grass pollens and relevant nutritional antigens were tested with CAP-RAST-FEIA (Pharmacia, Sweden). Of the cord sera 99% were positive for RSV-IgG, 44.7% at one year and 64.2% (n = 265) at two years of age. The positivity rate after 12 months varied with the season of birth, the number of siblings and the degree of exposure to tobacco smoke; and correlated closely with attacks of wheezing during infancy. Twenty (2.8%) children were found to be sensitized against at least one aeroallergen at one year, and 28 (10.5%) at two years. By the first birthday, mite sensitization (n = 3) could only be seen in the RSV-infected children; grass pollen sensitization (n = 9) was associated with RSV seropositivity (logistic regression model including the confounders mentioned above: with RSV IgGp = 0.048and IgMp = 0.0006), as was birch sensitization (n = 5) with RSV IgM (p = 0.009). No such differences could be detected at two years. No correlation of RSV seropositivity to any allergic manifestation could be found. We conclude, that it is only in the first year of life, that RSV infection plays a significant role in promoting sensitization against aeroallergens, which do not at this time produce allergic symptoms.
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- 1996
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31. Microdeletion 5q14.3 and anomalies of brain development
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Yorck Hellenbroich, Dawn E. Saunders, Inga Nagel, Gerhard Wolff, Jürgen Sperner, Almuth Caliebe, Caren Walter, Michaela Linder-Lucht, Deborah J. Morris-Rosendahl, Alrun Hotz, P. Martin, and Uta Tacke
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Male ,Microcephaly ,Pathology ,medicine.medical_specialty ,MECP2 ,Epilepsy ,Intellectual disability ,Genetics ,Medicine ,Humans ,MEF2C ,Genetics (clinical) ,Comparative Genomic Hybridization ,Muscular hypotonia ,business.industry ,MEF2 Transcription Factors ,Brain ,Facies ,medicine.disease ,Phenotype ,Magnetic Resonance Imaging ,Malformations of Cortical Development ,Child, Preschool ,Chromosomes, Human, Pair 5 ,Chromosome Deletion ,business ,Haploinsufficiency - Abstract
5q14.3 deletions spanning and flanking MEF2C as well as intragenic MEF2C mutations have recently been described as a cause of severe intellectual disability, epilepsy, and muscular hypotonia, with variable brain and other anomalies. With an increasing number of patients described, the clinical presentation of the patients appears to be relatively uniform, however the structural brain phenotypes described are variable. We describe two unrelated patients with overlapping de novo interstitial deletions of 4.1 and 1.9 Mb, including MEF2C in 5q14.3, one of whom had a complex brain malformation which could be best described as microcephaly with simplified gyral pattern (MSG). Expression analysis in both patients confirmed haploinsufficiency for MEF2C, decreased MECP2 expression and increased C3ORF58 (DIA1) expression, which is a new finding. A detailed analysis of brain and white matter abnormalities reported in patients with 5q14.3 deletion syndrome to date revealed a greater number of reported abnormalities in patients with deletions not including MEF2C than those with deletions or mutations directly affecting MEF2C. Screening an additional 43 patients with malformations of cerebral cortical development (MCD) for mutations in MEF2C and/or deletions in 5q14.3q15, did not detect any additional mutations, allowing us to conclude that 5q14.3 deletion syndrome is a rare cause of microcephaly with simplified gyral pattern.
- Published
- 2012
32. Infantile epileptic encephalopathy due to cobalamin deficiency?
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Uta Tacke, R Korinthenberg, KO Schwab, and B Fowler
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medicine.medical_specialty ,chemistry.chemical_compound ,chemistry ,business.industry ,Epileptic encephalopathy ,Internal medicine ,Pediatrics, Perinatology and Child Health ,Medicine ,Neurology (clinical) ,General Medicine ,business ,Gastroenterology ,Cobalamin - Published
- 2011
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33. Epilepsy in Aicardi-Goutières syndrome
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Georgia Ramantani, Uta Tacke, Louis Maillard, Frank Niemann, Celina von Stülpnagel, Andrea Bevot, Kara Thomas, Christoph Hertzberg, Pascal Niggemann, Hartmut Walkenhorst, Mehmet Ali Ergun, Micheil A. Innes, Martin Häusler, Chrysanthy Ikonomidou, Min Ae Lee-Kirsch, Jürgen Kohlhase, Rudolf Korinthenberg, Thomas Bast, Ralf A. Husain, Kristina Ungerath, epilepsy center (EC), University of Freiburg [Freiburg], Center for Human Genetics Freiburg, Food Standards Agency, Klinik für Kinder- und Jugendmedizin, and Technische Universität Dresden = Dresden University of Technology (TU Dresden)
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Adult ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Encephalopathy ,Status epilepticus ,macromolecular substances ,Electroencephalography ,Nervous System Malformations ,Severity of Illness Index ,03 medical and health sciences ,Epilepsy ,Young Adult ,0302 clinical medicine ,Autoimmune Diseases of the Nervous System ,[INFO.INFO-TS]Computer Science [cs]/Signal and Image Processing ,medicine ,Humans ,Age of Onset ,10. No inequality ,Child ,030304 developmental biology ,Retrospective Studies ,Dystonia ,0303 health sciences ,medicine.diagnostic_test ,Seizure types ,Infant ,General Medicine ,medicine.disease ,Phenotype ,Paroxysmal dystonia ,Anesthesia ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Aicardi–Goutières syndrome ,[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] ,Neurology (clinical) ,medicine.symptom ,Psychology ,[SPI.SIGNAL]Engineering Sciences [physics]/Signal and Image processing ,030217 neurology & neurosurgery ,Follow-Up Studies - Abstract
International audience; BACKGROUND: Aicardi-Goutières syndrome (AGS) is a genetically determined early-onset encephalopathy with variable phenotype, including neurologic manifestations such as dystonia, spasticity, epileptic seizures, progressive microcephaly, and severe developmental delay. The aim of our study was the characterization of epilepsy, one of the most frequent and severe AGS manifestations, in molecularly confirmed patients. METHODS: We reviewed the medical records, EEG, and CT/MRI findings in 16 patients aged 1-22 years that carried AGS1-5 mutations. RESULTS: Epilepsy manifested in 12 (75%) patients and took a refractory course in 9 (56%). 4 (25%) patients presented with seizures in the first four weeks and 11 (69%) altogether in the first year of life. Spasms were reported in 3 (19%) patients, focal seizures in 4 (25%), myoclonic in 5 (31%), symmetric or asymmetric tonic in 11 (69%), generalized tonic-clonic in 3 (19%) and status epilepticus in 4 (25%). EEG recordings initially showed a slow and disorganized background, followed by a regional intermittent theta/delta slow, while obvious multifocal or generalized epileptic discharges were only observed at follow-up. None of these EEG features were specific of AGS. There was no discernible correlation between the genotype and epilepsy onset, seizure types and epilepsy evolution. Epilepsy severity did not correspond to neuroimaging pathology. DISCUSSION: Epilepsy constitutes a cardinal feature of AGS, characterized by early onset, predominantly tonic semiology and a refractory course. The early discrimination of epileptic seizures from paroxysmal dystonia poses a challenge for neuropaediatricians, considering the initially inconspicuous or non-specific EEG findings. This study underlines the necessity of a more systematic serial evaluation of AGS patients using long-term video-EEG recordings.
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- 2010
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34. Lupus erythematosus and Aicardi-Goutières Syndrome: a continuum of immune mediated diseases
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Kristina Ungerath, Thomas Bast, Georgia Ramantani, C von Stülpnagel, Frank Niemann, Uta Tacke, Juergen Kohlhase, Kara Thomas, Andrea Bevot, Pascal Niggemann, Hartmut Walkenhorst, M Ae Lee-Kirsch, Martin Häusler, Christoph Hertzberg, and Micheil A. Innes
- Subjects
Lupus erythematosus ,Immune system ,business.industry ,Continuum (topology) ,Pediatrics, Perinatology and Child Health ,Immunology ,Medicine ,Aicardi–Goutières syndrome ,Neurology (clinical) ,General Medicine ,business ,medicine.disease ,Anti-SSA/Ro autoantibodies - Published
- 2010
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35. Neurosurgical treatment strategies in childhood craniopharyngiomas: is less more?
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Susanne Bartelt, Michael Trippel, Christoph B. Ostertag, Tilman Schubert, Vera Van Velthoven, Vera Gumpp, Guido Nikkhah, Uta Tacke, Surgical clinical sciences, Neuroprotection & Neuromodulation, and Neurosurgery
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Male ,medicine.medical_specialty ,Microsurgery ,Adolescent ,medicine.medical_treatment ,Neurosurgical Procedures ,Cohort Studies ,Stereotaxic Techniques ,Craniopharyngioma ,medicine ,Journal Article ,Humans ,Cyst ,Child ,Retrospective Studies ,Radiotherapy ,business.industry ,Brain Neoplasms ,Cysts ,Infant ,Retrospective cohort study ,General Medicine ,medicine.disease ,Surgery ,Radiation therapy ,Treatment Outcome ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Stereotaxic technique ,Female ,Neurology (clinical) ,Neurosurgery ,Neoplasm Recurrence, Local ,business ,Cohort study ,Follow-Up Studies - Abstract
OBJECTIVE: Craniopharyngiomas in children are typically present in combination with heterogeneous clinical and neuroradiological findings. It has remained highly challenging to choose the optimal treatment strategy with regard to local tumor control and clinical outcome. Here, we analyze different treatment methods and evaluate the results. METHODS: We performed a detailed retrospective evaluation of 32 children
- Published
- 2009
36. Cerebral and extracerebral symptoms of Aicardi Goutiéres syndrome
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R. Korinthenberg, Pierre Lebon, Yanick J. Crow, and Uta Tacke
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Pediatrics ,medicine.medical_specialty ,business.industry ,Pediatrics, Perinatology and Child Health ,medicine ,Aicardi–Goutières syndrome ,Neurology (clinical) ,General Medicine ,medicine.disease ,business - Published
- 2008
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37. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection
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María Luisa Martínez-Frías, Marianne Till, Cyril Goizet, Chris P. Ponting, Manir Ali, Bruce E. Hayward, Michèle Mathieu, Didier Lacombe, David T. Bonthron, Enrico Bertini, R. Curtis Rogers, Daniel Cau, Peter Baxter, John Tolmie, Catherine Dery, Anna Garner, Amparo Sanchis, Carole McKeown, Pierre Lebon, Christopher D. Rittey, Elisa Fazzi, David Chitayat, Anne Monier, Uta Tacke, John B.P. Stephenson, Andrea Leitch, Giovanni Lanzi, Elen Griffith, Riyana Babul-Hirji, Clarisse Baumann, Yvette Oade, Mary D. King, Rekha Parmar, Colin A. Semple, Hermione Lyall, Yanick J. Crow, Jean Aicardi, Kate Chandler, Bernhard Weschke, Pam Tomlin, Andrew P. Jackson, Oliver Quarrell, Thomas Voit, Joerg Klepper, and C. Geoffrey Woods
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Genetics ,Mutation ,Enzyme complex ,biology ,Ribonucleotide excision repair ,Medizin ,medicine.disease_cause ,medicine.disease ,Virology ,Aicardi syndrome ,medicine ,biology.protein ,Aicardi–Goutières syndrome ,Ribonuclease ,RNase H ,RNASEH2A - Abstract
Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical and immunological features of which parallel those of congenital viral infection. Here we define the composition of the human ribonuclease H2 enzyme complex and show that AGS can result from mutations in the genes encoding any one of its three subunits. Our findings demonstrate a role for ribonuclease H in human neurological disease and suggest an unanticipated relationship between ribonuclease H2 and the antiviral immune response that warrants further investigation.
- Published
- 2006
38. A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21
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Lieven Lagae, Isabelle Desguerre, D. Cau, Didier Lacombe, Pierre Lebon, Andrew P. Jackson, B.C.J. Hamel, J.H.L.M. van Bokhoven, Uta Tacke, Cyril Goizet, Christopher D. Rittey, L.J. Highet, Amparo Sanchis, Yanick J. Crow, N. Mathieu, H.G. Brunner, Marie-Laure Moutard, M.S. van der Knaap, Y.A. Oade, Manir Ali, Mary D. King, Dhavendra Kumar, and Pediatric surgery
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Male ,Genetics and epigenetic pathways of disease [NCMLS 6] ,Genotype ,Genetic Linkage ,Short Report ,Alpha interferon ,Locus (genetics) ,Genes, Recessive ,Consanguinity ,Lymphocytosis ,Biology ,Aicardi syndrome ,Genomic disorders and inherited multi-system disorders [IGMD 3] ,Cohort Studies ,Basal Ganglia Diseases ,Genetic linkage ,Genetics ,medicine ,Humans ,Genotyping ,Genetics (clinical) ,Chromosomes, Human, Pair 13 ,Genetic heterogeneity ,Infant, Newborn ,Calcinosis ,Chromosome Mapping ,Infant ,Syndrome ,medicine.disease ,Genetic defects of metabolism [UMCN 5.1] ,Aicardi–Goutières syndrome ,Female ,Functional Neurogenomics [DCN 2] - Abstract
Contains fulltext : 51263.pdf (Publisher’s version ) (Closed access) BACKGROUND: Aicardi-Goutieres syndrome (AGS) is an autosomal recessive, early onset encephalopathy characterised by calcification of the basal ganglia, chronic cerebrospinal fluid lymphocytosis, and negative serological investigations for common prenatal infections. AGS may result from a perturbation of interferon alpha metabolism. The disorder is genetically heterogeneous with approximately 50% of families mapping to the first known locus at 3p21 (AGS1). METHODS: A genome-wide scan was performed in 10 families with a clinical diagnosis of AGS in whom linkage to AGS1 had been excluded. Higher density genotyping in regions of interest was also undertaken using the 10 mapping pedigrees and seven additional AGS families. RESULTS: Our results demonstrate significant linkage to a second AGS locus (AGS2) at chromosome 13q14-21 with a maximum multipoint heterogeneity logarithm of the odds (LOD) score of 5.75 at D13S768. The AGS2 locus lies within a 4.7 cM region as defined by a 1 LOD-unit support interval. CONCLUSIONS: We have identified a second AGS disease locus and at least one further locus. As in a number of other conditions, genetic heterogeneity represents a significant obstacle to gene identification in AGS. The localisation of AGS2 represents an important step in this process.
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- 2006
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39. 770 Wheezing in non-hospitalized infants is neither predicted by atopic inheritance, nor does it predict atopic manifestation in the second year or life
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H Werchau, Uta Tacke, Ulrich Wahn, H. J. Streckert, Germanmulticenteratopystudyas, H Krebs, and Johannes Forster
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Inheritance (object-oriented programming) ,Pediatrics ,medicine.medical_specialty ,business.industry ,Immunology ,medicine ,Immunology and Allergy ,business - Published
- 1996
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40. 64 THE INFLUENCE OF CHRONIC ATOPIC ECZEMA ON CHILD BEHAVIOUR AND MOTHERS ATTITUDE TOWARDS HER CHILD IN THE FIRST THREE YEARS OF LIFE
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K E Bergmann, Renate L. Bergmann, Ulrich Wahn, Jörg M. Fegert, J. Schulz, and Uta Tacke
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medicine.medical_specialty ,Natural course ,business.industry ,media_common.quotation_subject ,CBCL ,language.human_language ,German ,Pediatrics, Perinatology and Child Health ,language ,Medicine ,Temperament ,business ,Psychiatry ,Birth cohort ,Socioeconomic status ,Child behaviour ,media_common - Abstract
Data: In 1990 a birth cohort (N:1314) was assembled out of 7609 newborn infants from 5 German cities. To observe the natural course of a.e. the infants are medically examined 7 times from birth to their 3rd year of life. Additionally, data on infant's health, development, temperament and behaviour (CBCL 2-3), family climate, as well as socioeconomic status are collected by interview or questionnaire.
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- 1994
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41. SINDA: Standardized Infant NeuroDevelopmental Assessment
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Mijna Hadders-Algra, Uta Tacke, Joachim Pietz, and Heike Philippi
42. Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *
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Junmin Fang-Hoffmann, Peter Burgard, Gisela Haege, Karl Otfried Schwab, Martin Lindner, Eugen Mengel, Georg F. Hoffmann, Uta Tacke, M. Leichsenring, Udo Wendel, Gwendolyn Gramer, and Friedrich K. Trefz
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Male ,Pediatrics ,medicine.medical_specialty ,Technology Assessment, Biomedical ,Phenylketonurias ,Pharmacology toxicology ,lcsh:Medicine ,Infant, Newborn, Diseases ,West germany ,Neonatal Screening ,Tandem Mass Spectrometry ,Germany ,Outcome Assessment, Health Care ,medicine ,Humans ,Genetics(clinical) ,Pharmacology (medical) ,Genetics (clinical) ,Medicine(all) ,Newborn screening ,business.industry ,newborn screening ,tandem-mass spectrometry ,Research ,lcsh:R ,Infant, Newborn ,General Medicine ,Infant newborn ,Biotechnology ,Female ,business ,Metabolism, Inborn Errors - Abstract
Background National newborn screening programmes based on tandem-mass spectrometry (MS/MS) and other newborn screening (NBS) technologies show a substantial variation in number and types of disorders included in the screening panel. Once established, these methods offer the opportunity to extend newborn screening panels without significant investment and cost. However, systematic evaluations of newborn screening programmes are rare, most often only describing parts of the whole process from taking blood samples to long-term evaluation of outcome. Methods In a prospective single screening centre observational study 373 cases with confirmed diagnosis of a metabolic disorder from a total cohort of 1,084,195 neonates screened in one newborn screening laboratory between January 1, 1999, and June 30, 2009 and subsequently treated and monitored in five specialised centres for inborn errors of metabolism were examined. Process times for taking screening samples, obtaining results, initiating diagnostic confirmation and starting treatment as well as the outcome variables metabolic decompensations, clinical status, and intellectual development at a mean age of 3.3 years were evaluated. Results Optimal outcome is achieved especially for the large subgroup of patients with medium-chain acyl-CoA dehydrogenase deficiency. Kaplan-Meier-analysis revealed disorder related patterns of decompensation. Urea cycle disorders, organic acid disorders, and amino acid disorders show an early high and continuous risk, medium-chain acyl-CoA dehydrogenase deficiency a continuous but much lower risk for decompensation, other fatty acid oxidation disorders an intermediate risk increasing towards the end of the first year. Clinical symptoms seem inevitable in a small subgroup of patients with very early disease onset. Later decompensation can not be completely prevented despite pre-symptomatic start of treatment. Metabolic decompensation does not necessarily result in impairment of intellectual development, but there is a definite association between the two. Conclusions Physical and cognitive outcome in patients with presymptomatic diagnosis of metabolic disorders included in the current German screening panel is equally good as in phenylketonuria, used as a gold standard for NBS. Extended NBS entails many different interrelated variables which need to be carefully evaluated and optimized. More reports from different parts of the world are needed to allow a comprehensive assessment of the likely benefits, harms and costs in different populations.
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