DOI : 10.1055/s-00000041

Neuropediatrics

Issue S 01 · Volume 52 · November 2021 DOI: 10.1055/s-011-52213


Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics
Salzburg, 05.–07.11.2021

Abstracts (HTML) List of Authors
FV1.09
Landgraf, Mirjam N.; Heinen, Florian; Weinmann, Tobias: Need Assessment among Caregivers of Children and Adolescents with Fetal Alcohol Spectrum Disorders: Results of the Nationwide German Survey
FV1.12
Büttel, H. M.; Zirn, B.: Presentation of Modern Genetic Diagnostics at the Interface between Neuro/Social Pediatrics and Human Genetics Based on Clinical Case Examples
FV1.15
Ménétrey, A.; Bölsterli, B. K.; Steindl, K.; Bieli, C.; Hackenberg, A.: Severe Central Breathing Disorder in Infant Boys: Think of Male Rett Syndrome
FV1.17
Neuhann, T.; Holinski-Feder, E.; Abicht, A.: Diagnostic Value of Exome Analysis in Patients with Mental Retardation
FV1.22
Schröder, S.; Li, Y.; Yigit, G.; Boltshauser, E.; Uhmann, A.; Wollnik, B.; Brockmann, K.; ; and the COMA-SUFU Study Group: Heterozygous Truncating Variants in SUFU Cause Congenital Ocular Motor Apraxia
FV1.26
Schwering, Christoph; Kammler, Gertrud; Wibbeler, Eva; Christner, Martin; Knobloch, Johannes K.-M.; Nickel, Miriam; Denecke, Jonas; Baehr, Michael; Schulz, Angela: Development of the “Hamburg Best Practice Guidelines for ICV−Enzyme Replacement Therapy (ERT) in CLN2 Disease” Based on 6 Years of Treatment Experience in 48 Patients
FV1.28
Ravindran, Ethiraj; Jühlen, Ramona; Vieira-Vieira, Carlos H.; Harel, Amnon; Selbach, Mathias; Dickmanns, Achim; Fahrenkrog, Birthe; Hu, Hao; Scott, Hamish; Kaindl, Angela M.: Expanding the Phenotype of NUP85 Mutations beyond Nephrotic Syndrome to Primary Autosomal Recessive Microcephaly and Seckel Syndrome Spectrum Disorders
FV1.30
Wendel, Eva-Maria; Thonke, Helen Sophie; Bertolini, Annikki; Baumann, Matthias; Blaschek, Astrid; Merkenschlager, Andreas; Karenfort, Michael; Kornek, Barbara; Lechner, Christian; Pohl, Daniela; Pritsch, Martin; Schanda, Kathrin; Schimmel, Mareike; Thiels, Charlotte; Reindl, Markus; Rostásy, Kevin; , on behalf of the BIOMARKER study group: Temporal Dynamics of MOG Antibodies in Children with Acquired Demyelinating Syndrome
FV1.32
Schönlaub, A.; Höller, A.; Hofer, S.; Haberlandt, E.; Karall, D.; Scholl-Bürgi, S.: Glut1 Deficiency Syndrome and Diabetes Mellitus Type 1: Review of the Literature and Presentation of a New Case
FV1.36
Eitner, L.; Enax-Krumova, E.; Brinkmann, F.; Schlegtendal, A.; Knoke, L.; Maier, C.; Distelmaier, F.; Lücke, T.: Abstract Abnormal Somatosensory Profiles in Children and Adolescents after Infection with SARS-CoV-2: A Prospective Controlled Study
FV1.38
Mihaylov, D.; de Vries, H.; Metzing, O.; Ruhe, V.; Dost, A.; Kentouche, K.; Stöbe, P.; Haack, T. B.; Brandl, U.; Huppke, P.; Husain, R. A.: Autoimmune Encephalitis in an Infant with Biallelic AIRE Variants: Unusual Manifestation of Autoimmune Polyendocrinopathy Syndrome Type 1 (APS-1)?
FV1.42
Rödl, Siegfried; Brunner-Krainz, Michaela; Pocivalnik, Mirjam; Zobel, Joachim; Ulreich, Raphael; Kehldorfer, Markus; Marschitz, Ingrid; Plecko, Barbara: Plasmapheresis in the Treatment of Pediatric Patients with Autoimmune Neurological Diseases: 13 Years of Experience
FV1.44
Fütterer, D.; Krägeloh-Mann, I.; Bevot, A.: Evaluation of a Multidisciplinary Treatment Concept for Children with Multiple Disabilities on the Example of Cerebral Palsy GMFCS IV–V
FV1.46
Wallmeier, Julia; Bracht, Diana; Alsaif, Hessa S.; Dougherty, Gerard W.; Olbrich, Heike; Cindric, Sandra; Dzietko, Mark; Heyer, Christoph; Teig, Norbert; Thiels, Charlotte; Alkuraya, Fowzan S.; Koerner-Rettberg, Cordula; Omran, Heymut: Mutations in TP73 Cause Cortical Malformation Consistent with Lissencephaly
FV1.50
Brockmann, Knut; Schröder, Simone: ESNEK: The Acquisition of Rare Neurological Disorders in Childhood: An Update after Seven Years
FV2.01
Krafft, H.; Staudt, M.: Clinical Speech fMRI in Children and Adolescents: Development of an Optimal Protocol and Analysis Algorithm
FV2.04
Makridis, Konstantin L.; Prager, Christine; Atalay, Deniz A.; Triller, Sebastian; John, Rainer; Rosenstock, Tizian; Thomale, Ulrich-Wilhelm; Tietze, Anna; Elger, Christian E.; Kaindl, Angela M.: Epilepsy Surgery in Children with Minimal Presurgical Video-EEG Monitoring
FV2.05
Kreye, J.; Wright, S. K.; Kaindl, A. M.; Prüß, H.: GABAA Receptor Antibodies from a Pediatric Encephalitis Patient Cause Autoimmune Epileptic Seizures
FV2.08
Neumayr, L.; Gschaidmeier, A.; Trauzettel-Klosinski, S.; Pieper, T.; Kudernatsch, M.; Hofer, W.; Bajer, C.; Staudt, M.: Sacrificing One Visual Hemifield during Pediatric Epilepsy Surgery: Effects on Visual Search
FV2.12
Pimpel, B.; Rosch, R.; Baldeweg, T.; Möller, F.: Advanced Neurophysiological Biomarkers in Epilepsy Surgery
FV2.13
Gröppel, G.; Hengsberger, A.; Schwarz, G.; Auer, C.; Stark, B.; Eisenkölbl, A.; Biebl, A.; Peherstorfer, A.; Pühringer, M.; Högler, W.; von Oertzen, T. J.: Pediatric Epilepsy Surgery at the Epilepsy Center Linz: Postoperative Seizure Outcome, Prognostic Factors, and Safety
FV2.14
Thalwitzer, K. M.; Döring, J. H.; Klabunde-Cherwon, A.; Kölker, S.; Hoffmann, G. F.; Syrbe, S.: Etiologic Spectrum, Treatment, and Outcome of 101 Children with West Syndrome
FV2.16
Zobel, J.; Plecko, B.; Friedrich, M.; Gruber-Sedlmayr, U.; Rauter, L.; Brunner-Krainz, M.; Schwerin-Nagel, A.; Kortschak, A.; Steiner, K.; Pilch, H.; Raissakis, M.; Köstl, G.; Spiegl, B.; Seebacher, H.; Schreiner, E.; Blatterer, J.; Speicher, M.; Verheyen, S.: Next-Generation Sequencing (NGS) in Pediatric Patients with Epilepsy: How Many Previously Unsolved Cases Can Be Solved?
FV2.17
Eschermann, K.; Kluger, G.; Schmeder, V.; Apler, S.; Hartlieb, T.; von Stülpnagel, C.; Kiwull, L.: PATRE: PATient-Based Phenotyping and Evaluation of Therapy for Rare Epilepsies
FV2.19
Reinert, Marie-Christine; Grau, David Pacheu; Catarino, Claudia B.; Klopstock, Thomas; Ohlenbusch, Andreas; Schittkowski, Michael; Wilichowski, Ekkehard; Rehling, Peter; Brockmann, Knut: Sulthiame Impairs Mitochondrial Function In Vitro and May Trigger Onset of Visual Loss in Leber Hereditary Optic Neuropathy
FV2.20
Gschaidmeier, A.; Heimgärtner, Magdalena; Schnaufer, Lukas; Driever, Pablo Hernáiz; Wilke, Marko; Lidzba, Karen; Staudt, Martin: Nonverbal Intelligence in Unilateral Perinatal Stroke with and without Epilepsies
FV2.32
Schröter, J.; Popp, B.; Brennenstuhl, H.; Döring, J. H.; Donze, S. H.; Bijlsma, E. K.; van Haeringen, A.; Huhle, D.; Jestaedt, L.; Merkenschlager, A.; Arelin, M.; Gräfe, D.; Neuser, S.; Oates, S.; Pal, D. K.; Parker, M. J.; Lemke, J. R.; Hoffmann, G. F.; Kölker, S.; Harting, I.; Syrbe, S.: Complementing the Phenotypical Spectrum of TUBA1A Tubulinopathy and Its Role in Early-Onset Epilepsies
FV2.33
Pless, E.; Lindtner, E.; Leitgeb, H.: LEA Living with Epilepsy in the World of Work/Work Integration Using the Example of a Mechanical Engineering Apprentice
FV3.03
Alecu, Julian E.; Ziegler, Marvin; Brechmann, Barbara; Eberhardt, Kathrin; Jumo, Hellen; D’Amore, Angelica; Saffari, Afshin; Santorelli, Filippo M.; Neuser, Sonja; Popp, Bernt; Yang, Edward; Barrett, Lee; Hirst, Jennifer; Sahin, Mustafa; Ebrahimi-Fakhari, Darius: High-Throughput Imaging of ATG9A Distribution as a Diagnostic Functional Assay for Adaptor Protein Complex 4: Associated Hereditary Spastic Paraplegia (AP-4-HSP)
FV3.05
Abela, L.; Häberle, J.; Steindl, K.; Vural, S.; Dülli, L.; Münst, A.; Gubler, D.; Hamed, S.; Ramantani, G.; Hackenberg, A.; Bürki, S. E.: Severe Dystonic Movement Disorder and Developmental Encephalopathy Due to Hexokinase 1 Mutation
FV3.06
Märtner, E. M. Charlotte; Thimm, Eva; Guder, Philipp; Schiergens, Katharina A.; Rutsch, Frank; Roloff, Sylvia; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Grünert, Sarah C.; Krämer, Johannes; Baumgartner, Matthias R.; Beblo, Skadi; Haase, Claudia; Dieckmann, Andrea; Lindner, Martin; Näke, Andrea; Hoffmann, Georg F.; Mühlhausen, Chris; Walter, Magdalena; Garbade, Sven F.; Maier, Esther M.; Kölker, Stefan; Boy, Nikolas: The Biochemical High Excreter Phenotype Is the Major Risk Factor for Cognitive Impairment in Early Diagnosed Individuals with Glutaric Aciduria Type 1
FV3.09
Josler, M.; Kutz, P.; Roll, C.; Otto, M.; Kapanci, T.; Bertolini, A.; Rostasy, K.: CSF Profile and Hypocretin in Children with Narcolepsy
FV3.10
Thiels, Ch.; Rothoeft, T.; Hoffjan, S.; Nguyen, H.; Grasshoff, U.; Rostasy, K.; Lücke, T.: Mitchell Syndrome Imitating an Inflammatory Myelitis
FV3.13
Cirak, Sebahattin; Daimagüler, Hülya-Sevcan; Ardicli, Didem; Nürnberg, Peter; Keren-Kaplan, Tal; Bonifacino, Juan S.; Topaloglu, Haluk: Novel Lysosomal Positioning Defects Due to Biallelic Mutations in BORCS7 Causes a Neurodegenerative Disease Presenting as Hereditary-Spastic Paraplegia
FV4.05
Schüssler, Stephanie C.; Schmidt, Martina; Deiters, Ludger; Candova, Antonia; Fahlbusch, Fabian; Trollmann, Regina: Neonatal Seizures in Preterm Infants: Characteristics and Long-Term Outcome
FV4.07
Cirak, Sebahattin; Özdemir, Özkan; Daimagüler, Hülya-Sevcan; Karaca, Ezgi; Sprute, Rosanne; Pergande, Matthias; Lücke, Thomas; Punetha, Jaya; Joset, Pascal; Bhola, Priya T.; Kostera-Pruszczyk, Anna; Nürnberg, Peter; Posey, Jennifer E.; Rauch, Anita; Kernohan, Kym D.; Shukla, Anju; Lupski, James R.: Novel Biallelic Variants in KIF21A Cause a Novel Phenotype of Fetal Akinesia with Neurodevelopmental Defects
FV5.07
Huppke, P.; Huppke, B.; Reinert, M.; Stark, W.; Gärtner, J.: Neurofilament Light Chain als Biomarker für die Prognose der pädiatrischen Multiplen Sklerose
FV5.09
Weiß, C.; Ziegler, A.; Becker, L.-L.; Johannsen, J.; Brennenstuhl, H.; Schreiber, G.; Flotats-Bastardas, M.; Stoltenburg, C.; Hartmann, H.; Illsinger, S.; Denecke, J.; Pechmann, A.; Müller-Felber, W.; Vill, K.; Blaschek, A.; Smitka, M.; Stam, L. v.d.; Weiss, K.; Winter, B.; Goldhahn, K.; Plecko, B.; Horber, V.; Bernert, G.; Husain, R. A.; Rauscher, C.; Trollmann, R.; Garbade, S. F.; Hahn, A.; Hagen, M. v.d.; Kaindl, A. M.: Real-World Data for Onasemnogen Abeparvovec (Zolgensma) in Spinal Muscular Atrophy
FV5.15
Wagner, Alexandra L.; Regensburger, Adrian P.; Danko, Vera; Jüngert, Jörg; Federle, Anna; Klett, Daniel; Schuessler, Stephanie; Neurath, Markus F.; Roos, Andreas; Lochmüller, Hanns; Woelfle, Joachim; Trollmann, Regina; Waldner, Maximilian J.; Knieling, Ferdinand: Noninvasive Imaging in Pediatric Spinal Muscular Atrophy Patients Using Multispectral Optoacoustic Tomography: A Proof-of-Concept Study
FV5.22
Bölsterli, Bigna K.; Boltshauser, Eugen; Distelmaier, Felix; Geis, Tobias; Klabunde-Cherwon, Annick; Kottke, Raimund; Makowski, Christine; Mayr, Johannes A.; O’Gorman Tuura, Ruth L.; Prokisch, Holger; Steinbruecker, Katja; Steinfeld, Robert; Syrbe, Steffen; Wagner, Matias; Ziegler, Andreas; Wortmann, Saskia: Mitochondrial Transporter Defects: Successful Treatment with Ketogenic Diet Therapy
FV5.26
Schulz, A.; Schwering, C.; Nickel, M.; Wibbeler, E.; Westermann, L.; Dulz, S.; Lezius, S.; Maier, E.: Intraventricular Cerliponase Alfa as Standard of Care in CLN2 Disease: 4-Year Update from an Independent Ongoing Observational Study
FV5.30
Brich, L.; Gleich, B.; Schaff, F.; Heidsieck, A.; Sandurkov, B.; Mall, V.; Jung, N.: Variability of Intracortical Oscillations on Human Cortex and their Potential Relevance for Individualized Noninvasive Brain Stimulation
FV5.32
Neubauer, Bernd A.; Diehl, Danielle: Intrauterine Fetoscopic Repair of Myelomeningocele: 30-Month Follow-up Data
FV5.33
Hösl, M.; Schupfinger, A.; Nader, S.; Klich, L.; Berweck, S.: Hamstrings Dysfunction in Children with Spastic Cerebral Palsy: Can Muscle Modeling Provide Meaningful Information about Ambulatory Mobility?
FV5.34
Syrbe, S.; Saffari, A.: Early Use of mTOR Inhibitors in Tuberous Sclerosis: Current State and Plan for a Prospective Clinical Trial of Early Prophylactic mTOR Inhibitor Treatment (PROTECT)
FV5.36
Börner, C.; Hauser, A.; Staisch, J.; Lang, M.; Göttler, C.; Wagner, J.; Heinen, F.; Bonfert, M. V.: Clinical Experiences with Repetitive Neuromuscular Magnetic Stimulation in Children with Posttraumatic Headache: A Retrospective Study
FV6.01
Spiegler, Juliane; El-Awad, Usama; Baumann, Nicole; Lemola, Sakari; Wolke, Dieter: Participation in Club Sport in Childhood Is Associated with Mental Health in Preterm and Term Born Adolescents
FV6.02
van der Stam, Lieske; Kühne, Fabienne; Kaindl, Angela M.: Pilot Study to Observe Changes in Independence in Everyday Life through Intensive Wheelchair Mobility Training in Wheelchair-Dependent Children
FV6.04
Amm, K.; Stephan, W.: Outpatient Rehabilitation for Children: Opportunities and Possibilities
FV6.05
Schneider, Joanna; Mohr, Naomi; John, Rainer; Aliatakis, Niko; Spors, Birgit; Kaindl, Angela: Brain Malformations and Their Correlation to Cognitive Performance in Patients with Spina Bifida