Differences in Tic Severity Among Adolescent Girls and Boys with Tourette Syndrome During the Pandemic
Conclusion These findings provide evidence that, regarding tic severity assessed with YGTSS, the experiences of adolescent girls and boys with TS have differed during the pandemic. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 24, 2023 Category: Neurology Authors: Larsh, Travis R. Wu, Steve W. Huddleston, David A. Lipps, Tara D. Gilbert, Donald L. Tags: Short Communications Source Type: research
Neonatal Medullary Venous Thrombosis and Hemorrhage from Protein C Deficiency
Neuropediatrics DOI: 10.1055/a-2041-3461 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 22, 2023 Category: Neurology Authors: Means, Margaret J. Whitehead, Matthew T. Borst, Alexandra J. Cristancho, Ana G. Tags: Videos and Images in Neuropediatrics Source Type: research
Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study
Conclusion Lysine degradation, nicotine addiction, and thyroid hormone signaling pathways are well-suited to be research areas for the discovery of new targeted therapies in ID patients. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 22, 2023 Category: Neurology Authors: G ünay, Çağatay Aykol, Duygu Özsoy, Özlem S önmezler, Ece Hanci, Yaren Sena Kara, B ülent Akkoyunlu S ünnetçi, Deniz Cine, Naci Deniz, Adnan Özer, Tolgahan Ölçülü, Cemile Büşra Yilmaz, Özlem Kanmaz, Seda Yilmaz, Sanem Tekg ül, Hasan Yild Tags: Original Article Source Type: research
Novel SYN1 Variant in Two Brothers with Focal Epilepsy and Their Prompt Response to Valproate
Neuropediatrics DOI: 10.1055/a-2019-0136Synapsins are neuron-specific phosphoproteins that modulate neurotransmitter release, synaptic plasticity, and molecular processes shaping higher brain functions. Pathogenic synapsin-1 (SYN1) variants are associated with epilepsy, intellectual disabilities, and behavioral problems. We detected a novel SYN1 variant [c.477_479delTGG (p.Gly160del)] in brothers with focal epilepsy with secondary generalization. The deleted amino acid was found to be highly conserved among mammalian species. In electroencephalography, the older brother showed a bioelectrical status epilepticus and was als...
Source: Neuropediatrics - March 15, 2023 Category: Neurology Authors: Leuschner, Ursula Veronika Kleinle, Stephanie Holzinger, Andreas Neef, Jochen Tags: Short Communications Source Type: research
Family Burden and Epilepsy Surgery in Children with Drug-Resistant Epilepsy
Conclusion In children with DRE, epilepsy surgery reduces FB. Given the considerable impact of families on the development and wellbeing of their children, the impact of epilepsy surgery should be communicated to affected families. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 15, 2023 Category: Neurology Authors: Hoyer, Sebastian Makridis, Konstantin L. Atalay, Deniz A. Thomale, Ulrich-W Prager, Christine Elger, Christian E. Kaindl, Angela M. Tags: Original Article Source Type: research
Recurrent Sensory-Motor Neuropathy Mimicking CIDP as Predominant Presentation of PDH Deficiency
Conclusion We summarize the clinical and genetic characteristics of one patient with PDH deficiency presenting isolated peripheral nervous system involvement. This study highlights that the diagnosis of PDH deficiency should be considered in children with unexplained peripheral neuropathy, even with features suggestive of acquired forms, especially in case of early onset and limited response to treatment. A simple analysis of lactic acid could help to target the diagnosis.In addition, we suggest that the residue Arg88 is the most frequently involved in this specific phenotype of PDH deficiency. [...] Georg Thieme Verlag ...
Source: Neuropediatrics - March 7, 2023 Category: Neurology Authors: Croci, Carolina Cataldi, Matteo Baratto, Serena Bruno, Claudio Trucco, Federica Doccini, Stefano Romano, Alessandro Nesti, Claudia Santorelli, Filippo Maria Fiorillo, Chiara Tags: Short Communications Source Type: research
Gait is not Affected by Hemispherotomy —Case Report from Two Children
Neuropediatrics DOI: 10.1055/a-2021-0202In children with therapy refractory epilepsy, the functional disconnection of one hemisphere (hemispherotomy) may be considered as a treatment option. The visual field defects and hand function effects associated with the procedure have been extensively studied. However, the effect of the hemispherotomy on gait pattern has thus far only been analyzed qualitatively, and there is limited quantitative data. At the Children's Hospital, we regularly perform standardized quantitative gait analysis studies and care for children with complex epilepsies. During the standard routine of care fo...
Source: Neuropediatrics - March 7, 2023 Category: Neurology Authors: Alexander, Nathalie Cip, Johannes M üller, Elisabeth Lengnick-Lampadius, Katrin Broser, Philip Julian Tags: Short Communication Source Type: research
Executive Function Assessment in 2-Year-Olds Born Preterm
Neuropediatrics DOI: 10.1055/a-2023-9280
Aim Our objective was to investigate the executive function and its relationship with gestational age, sex, maternal education, and neurodevelopmental outcome at 2 years corrected age in children born preterm.
Method Executive function was assessed by means of the Multisearch Multilocation Task (MSML), Reversed Categorization Task (RevCat), and Snack Delay Task (SDT). Infant and maternal characteristics were gathered from the child's record. The developmental outcome was measured by the Bayley Scales and a multidisciplinary risk evaluation for autism.
Results Th...
Source: Neuropediatrics - March 7, 2023 Category: Neurology Authors: Van den Brande, Astrid Bollen, Bieke Boets, Bart Naulaers, Gunnar Ortibus, Els Tags: Original Article Source Type: research
The Coexistence of Two Genetic Astrocytopathies —Megalencephalic Leukoencephalopathy and Vanishing White Matter Disease—in an Indian Child
This article highlights the rare occurrence of two leukodystrophies of diverse pathogenesis in a child from a nonpredisposed community. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 6, 2023 Category: Neurology Authors: Das, Suman Ray, Biman Kanti Chakraborty, Uddalak Tippabathani, Jayakrishna Santra, Arindam Tags: Short Communication Source Type: research
Expanding the Spectrum of NUBPL-Related Leukodystrophy
Neuropediatrics DOI: 10.1055/s-0043-1764214Mitochondrial leukodystrophies constitute a group of different conditions presenting with a wide range of clinical presentation but with some shared neuroradiological features. Genetic defects in NUBPL have been recognized as cause of a pediatric onset mitochondrial leukodystrophy characterized by onset at the end of the first year of life with motor delay or regression and cerebellar signs, followed by progressive spasticity. Early magnetic resonance imagings (MRIs) show white matter abnormalities with predominant involvement of frontoparietal regions and corpus callosum. A strik...
Source: Neuropediatrics - March 3, 2023 Category: Neurology Authors: Tonduti, Davide Zambon, Alberto A. Ghezzi, Daniele Lamantea, Eleonora Izzo, Rossella Parazzini, Cecilia Baldoli, Cristina van der Knaap, Marjo S Fumagalli, Francesca Tags: Review Articles Source Type: research
Focality in Febrile Seizures: A Retrospective Assessment Using Arterial Spin Labeling MRI
Conclusion Focality in FS may be common, and its primary origin might be the temporal regions. ASL can be useful for assessing focality in FS, particularly when seizure onset is unknown. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - February 27, 2023 Category: Neurology Authors: Yeom, Jung Sook Kim, Young-Soo Choi, Dae-Seob Tags: Original Article Source Type: research
Shear Wave Elastography in Patients with Spinal Muscular Atrophy Types 2 and 3
Conclusion This is the first study to report muscle involvement assessed by SWE in patients with SMA types 2 and 3. Our findings are similar to the presence of selective muscle involvement demonstrated in previous studies, and also SWE and MRI values were similar. SWE is an alternative noninvasive practical method that can be used to demonstrate muscle involvement in patients with SMA, to understand the pathogenesis of segmental involvement, and to guide future treatments or to monitor the effectiveness of existing new treatment options. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in ...
Source: Neuropediatrics - February 27, 2023 Category: Neurology Authors: Karacabey, Bur çin Nazlı Bayramo ğlu, Zuhal Co şkun, Orhan Sar ı, Zeynep Nur Akyol Özkan, Melis Ulak Y ıldız, Edibe Pembegül Ayd ınlı, Nur Çalışkan, Mine Tags: Original Article Source Type: research
Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye –Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/PLPHP Deficiency
Conclusion We here describe a previously unreported individual harboring biallelic pathogenic PLPHP variants presenting with paroxysmal eye–head movements followed by epileptic spasms and an almost normal interictal electroencephalogram, thus expanding the clinical spectrum of PLPBP deficiency. This warrants consideration of vitamin-B6-dependent epilepsies in patients with early-onset epilepsy, including epileptic spasms, and eye movement disorders also beyond the neonatal period even when metabolic screening for vitamin-B6-dependent epilepsies is negative. PLPHP should be included systematically in NGS epilepsy gene p...
Source: Neuropediatrics - February 24, 2023 Category: Neurology Authors: Kalser, Judith Giuliano, Fabienne Peralta, Maria Plecko, Barbara B ölsterli, Bigna K. Tags: Short Communication Source Type: research
Efficacy of Melatonin for Insomnia in Children with Autism Spectrum Disorder: A Meta-analysis
Conclusion Melatonin has a certain effect on relieving sleep disturbances in children with ASD, which can shorten sleep latency, reduce the number of awakenings, and prolong total sleep time. Larger studies are required to verify this hypothesis. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | open access Full text (Source: Neuropediatrics)
Source: Neuropediatrics - February 24, 2023 Category: Neurology Authors: Xiong, Mei Li, Fang Liu, Zhaohua Xie, Xin Shen, Hongli Li, Weiteng Wei, Liping He, Rongfang Tags: Review Articles Source Type: research
Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine
Conclusion Our positive results encourage further studies both on L-phenylalanine for other individuals with FARS2 deficiency and the exploration of this treatment rationale for other ARS2 deficiencies. Additionally, treatment costs were relatively low at 1.10 €/day. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents | Abstract | Full text (Source: Neuropediatrics)
Source: Neuropediatrics - February 20, 2023 Category: Neurology Authors: Oswald, Susanne L. Steinbr ücker, Katja Achleitner, Melanie T. G öschl, Elisabeth Bittner, Reginald E. Schmidt, Wolfgang M. Tiefenthaler, Elke Hammerl, Emma Eisl, Anna Mayr, Doris Mayr, Johannes A. Wortmann, Saskia B. Tags: Short Communications Source Type: research
