Potential Risk Factors for Autism in Children Requiring Neonatal Intensive Care Unit
Conclusion This study found associations between specific risk factors during critical neurodevelopmental periods and a subsequent diagnosis of ASD. Knowledge of the etiologic factors that may influence the development for ASD is paramount for the development of intervention strategies and improvement of prognoses. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - April 14, 2021 Category: Neurology Authors: Matos, Mar Ãlia Barbosa de Bara, Tiago S. Felden, Érico P. G. Cordeiro, Mara L. Tags: Original Article Source Type: research
Fragile X Syndrome and Premutation Disorders
Neuropediatrics DOI: 10.1055/s-0041-1728657 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - April 14, 2021 Category: Neurology Authors: Boltshauser, Eugen Tags: Book Review Source Type: research
Progressive Leukodystrophy-Like Demyelinating Syndromes with MOG-Antibodies in Children: A Rare Under-Recognized Phenotype
Neuropediatrics DOI: 10.1055/s-0041-1726289Acquired demyelinating syndromes (ADS) are frequently associated with myelin oligodendrocytes glycoprotein (MOG) antibodies in children. Clinical phenotypes are heterogeneous and may delay the diagnosis, especially when they relapse and are atypical, mimicking diseases such as multiple sclerosis or neuromyelitis optica spectrum disorders . Here, we describe two children: one with a progressive cognitive and behavioral deterioration with seizures after only one relapse and the other with similar clinical impairments associated with multiple relapses. Brain magnetic resonance imagin...
Source: Neuropediatrics - March 31, 2021 Category: Neurology Authors: Yazbeck, Elise Maurey, H élène Leroy, Carole Horellou, Philippe Napuri, Silvia Lali, Mohammed Adam, Clovis Husson, Beatrice Sevin, Caroline Deiva, Kumaran Tags: Short Communication Source Type: research
Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential
We present four brief case vignettes to point out difficulties associated with correctly interpreting genetic findings. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 31, 2021 Category: Neurology Authors: Gburek-Augustat, Janina Schoene-Bake, Jan-Christoph B ültmann, Eva Haack, Tobias Buchert, Rebecca Synofzik, Matthis Biskup, Saskia Feuerhake, Friedrich Sorge, Ina Hartmann, Hans Tags: Original Article Source Type: research
Epilepsy in Neuropediatrics
Neuropediatrics 2021; 52: 071-072 DOI: 10.1055/s-0041-1726339 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 19, 2021 Category: Neurology Authors: Neubauer, Bernd A. Tags: Editorial Source Type: research
Bilateral Motor Responses to Transcranial Magnetic Stimulation in Preterm Children at 9 Years of Age
Conclusion Children of PT and T may have bilateral motor responses after TMS at 9 years of age. Ipsilateral conduction emerges immediately or more often slightly delayed and more frequently in upper than in lower extremities.
Significance Bilateral motor conduction reflects developmental and neurophysiological variability in children at 9 years of age. MEPs can be used as a measure of corticospinal tract integrity in PT children. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 11, 2021 Category: Neurology Authors: Valkama, A. Marita Rytky, Seppo O. Ols én, Päivi M. Tags: Original Article Source Type: research
Activin A and Acvr2b mRNA from Umbilical Cord Blood Are Not Reliable Markers of Mild or Moderate Neonatal Hypoxic –Ischemic Encephalopathy
Conclusion UCB Activin A and Acvr2b mRNA are not valid biomarkers of infants with mild or moderate HIE; they are unable to distinguish infants with HIE or infants with poor neurodevelopmental outcomes. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 11, 2021 Category: Neurology Authors: O'Sullivan, Marc Paul Denihan, Niamh Sikora, Klaudia Finder, Mikael Ahearne, Caroline Clarke, Gerard Hallberg, Boubou Boylan, Geraldine B. Murray, Deirdre M. Tags: Original Article Source Type: research
Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children
Conclusion Results supporting a neuromuscular abnormality were found in 15 of 24. In six patients (25%), we confirmed a genetic diagnosis and 12 had a clinical neuromuscular diagnosis. The study suggests that combined use of neurophysiology and muscle biopsy in cases where genetic testing does not provide a diagnosis can be useful in children with delayed motor milestones and clinical evidence of a neuromuscular disease. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 11, 2021 Category: Neurology Authors: Hoei-Hansen, Christina E. Tygesen, Marie L. B. Dun ø, Morten Vissing, John Ballegaard, Martin Born, Alfred P. Tags: Original Article Source Type: research
Jumping Mechanography is a Suitable Complementary Method to Assess Motor Function in Ambulatory Boys with Duchenne Muscular Dystrophy
In this study, we compared mechanography with timed function tests (TFTs).
Methods 41 ambulatory DMD patients performed a total of 95 chair rising tests (CRT) and a total of 76 single two-legged jumps (S2LJ) on a mechanography ground reaction force platform. The results were correlated with a 6-minute walk test (6MWT) and the time required to run 10 meters, stand up from a supine position, and climb four stairs, all performed in the same setting.
Results Our measurements show a high correlation between mechanography and the TFTs: S2LJ/10-m run, r = 0.62; CRT/10-m run, r = 0.61; S2LJ/standing up from s...
Source: Neuropediatrics - March 11, 2021 Category: Neurology Authors: Blaschek, Astrid Rodrigues, Martin Rawer, Rainer M üller, Christine Ille, Lena Schr öder, Sebastian Idriess, Mohamed M üller-Felber, Wolfgang Vill, Katharina Tags: Original Article Source Type: research
Vitamin B12 Deficiency and West Syndrome: An Uncommon but Preventable Cause of Neurological Disorder. Report on Three Cases, One of Them with Late Onset during Vitamin B12 Treatment
Neuropediatrics DOI: 10.1055/s-0041-1725013Vitamin B12 is a water-soluble vitamin that plays a fundamental role as an essential cofactor for two enzymes responsible for the production of succinyl-CoA and methionine. Vitamin B12 deficiency can occur in infants and may be related to the breastfeeding mother's adherence to a vegan diet or somatic diseases in the mother. It should be differentiated from inborn errors of vitamin B12 metabolism. Herein, we report the cases of three infants with West syndrome; all three were breastfed by mothers who followed a strict vegan diet. In one of the three infants, West syndrome develope...
Source: Neuropediatrics - March 3, 2021 Category: Neurology Authors: Pavone, Piero Sullo, Federica Falsaperla, Raffaele Greco, Filippo Crespo, Agustina Calvo, Agustin Caraballo, Roberto Tags: Short Communication Source Type: research
Outbreak of Enterovirus Infection with Neurological Presentations in a Pediatric Population in Northern Spain: A Clinical Observational Study
Conclusion Clinical, microbiological, and radiological diagnosis is essential in outbreaks of EV neurological disease, taking into account that it can be difficult to identify EV-A71 and EV-D68 in CSF, requiring throat or rectal samples. There is not specific treatment to these conditions and the efficacy and understanding of the mechanism of action of immune-modulatory treatment (IVIG, corticosteroids, and plasmapheresis) is limited. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - March 3, 2021 Category: Neurology Authors: Hedrera-Fernandez, Antonio Cancho-Candela, Ramon Arribas-Arceredillo, Marta Garrido-Barbero, Maria Conejo-Moreno, David Sariego-Jamardo, Andrea Perez-Poyato, Maria Socorro Rodriguez-Fernandez, Cristina del Villar-Guerra, Pablo Bermejo-Arnedo, Ignacio Pe à Tags: Original Article Source Type: research
TPK1 Deficiency —A Vitamin-Responsive Encephalopathy with a Suggestive MRI Pattern
Neuropediatrics DOI: 10.1055/s-0041-1725949 Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - February 24, 2021 Category: Neurology Authors: Plecko, Barbara Tags: Editorial Source Type: research
Clinico-Radiological Correlation in 26 Egyptian Children with Glutaric Acidemia Type 1
Conclusion Patients with GA1 manifest characteristic and region-specific brain MRI abnormalities, but only striatal affection appears to correlate with neurological phenotype. [...] Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, GermanyArticle in Thieme eJournals: Table of contents  |  Abstract  |  Full text (Source: Neuropediatrics)
Source: Neuropediatrics - February 23, 2021 Category: Neurology Authors: Sadek, Abdelrahim A. Aladawy, Mohammed A. Magdy, Rofaida M. Mansour, Tarek M. M. Othman, Amr A. Hawary, Bahaa Ibrahim, Mohamed F. Hassan, Mohammed H. Abdelkreem, Elsayed Tags: Original Article Source Type: research
Variable Genotype –Phenotype Correlation of Pompe's Disease Caused by a c.2015 G  >  A (p.Arg672Gln) Mutation in the GAA Gene
Neuropediatrics DOI: 10.1055/s-0040-1722680Pompe's disease occurs due to an autosomal recessive trait resulting from numerous distinctive mutations in the GAA gene. It manifests as a broad spectrum of clinical phenotypes with progressive weakness that impairs motor and respiratory functions being common for all its forms. Cardiac hypertrophy is a prominent feature of its classic infantile form. To date, the pathogenic variant c.2015G > A (p.Arg672Gln) in exon 14 of the GAA gene has been described in 10 children of different ethnic groups, with variable phenotypic presentations. This work describes three children fro...
Source: Neuropediatrics - February 12, 2021 Category: Neurology Authors: Tokatly Latzer, Itay Sagi, Liora Bali, Deeksha Sarihyan Rehder, Catherine Orbach, Rotem Fattal-Valevski, Aviva Tags: Short Communication Source Type: research
Neuropsychological Phenotypes of Pediatric Anti-Myelin Oligodendrocyte Glycoprotein Associated Disorders: A Case Series
The objective of the present case series was to describe the clinical and neuropsychological phenotypes of seven pediatric patients (ages 3–15 years) with MOG-AD of different diagnoses (e.g., acute disseminated encephalomyelitis, optic neuritis, multiple sclerosis, and neuromyelitis spectrum disorders). Neuropsychological outcomes were evaluated by retrospective chart review. Results indicated largely intact neuropsychological profiles in five of the seven patients, with mild weaknesses in attention, executive functioning, processing speed, visual-motor/fine-motor skills, and mood concerns being observed. Two patients wi...
Source: Neuropediatrics - February 12, 2021 Category: Neurology Authors: Tan, Alexander Marcus, David J. Howarth, Robyn A. Gombolay, Grace Y. Tags: Short Communication Source Type: research
