Results 61 to 70 of about 11,674 (220)

Visuospatial working memory in very preterm and term born children—Impact of age and performance

Developmental Cognitive Neuroscience, 2014
Working memory is crucial for meeting the challenges of daily life and performing academic tasks, such as reading or arithmetic. Very preterm born children are at risk of low working memory capacity.
I. Mürner-Lavanchy, B.C. Ritter, M.M. Spencer-Smith, W.J. Perrig, G. Schroth, M. Steinlin, R. Everts   +6 more
doaj   +1 more source

Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort

JIMD Reports, 2021
Multiple sulfatase deficiency (MSD) is a lysosomal storage disease caused by a deficiency of formylglycine‐generating enzyme due to SUMF1 defects. MSD may be misdiagnosed as metachromatic leukodystrophy (MLD), as neurological and neuroimaging findings ...
Stefanie Beck‐Wödl, Christiane Kehrer, Klaus Harzer, Tobias B. Haack, Friederike Bürger, Dorothea Haas, Angelika Rieß, Samuel Groeschel, Ingeborg Krägeloh‐Mann, Judith Böhringer   +9 more
doaj   +1 more source

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4

Movement Disorders, EarlyView.
Abstract Background SRRM4 is an exclusively neural‐expressed splicing‐factor gene not yet associated with a monogenic condition. Objective We sought to delineate movement disorders caused by SRRM4 variants. De novo splice‐donor‐site variants at position +2 of intron 5 of SRRM4 (c.464+2T>C, c.464+2T>A) occurred in three unrelated patients with dystonia ...
Philip Harrer, Volker Kittke, Alice Saparov, Alexej Knaus, Shimriet Zeidler, Rachel Schot, Florian Kraft, Matthias Begemann, Suzanna Koudijs, Ugo Sorrentino, Chen Zhao, Ivana Dzinovic, Martin Pavlov, Elisabeth Graf, Antonia M. Stehr, Peter M. Krawitz, Christian Wilhelm, Saskia Biskup, Fahd Alsalloum, Steffen Berweck, Juliane Winkelmann, Konrad Oexle, Ingo Kurth, G. Christoph Korenke, Michael Zech   +24 more
wiley   +1 more source

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]

, 2018
Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth, Menten, Björn, Roels, Frank, Roeyers, Herbert, Smet, Joél, Stepman, Hedwig, Van Coster, Rudy, Vanlander, Arnaud, Vantroys, Elise, Vergult, Sarah   +9 more
core   +1 more source

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

Clinical Genetics, EarlyView.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic, Dorota Garczarczyk‐Asim, Julia Vodopiutz, Andreas R. Janecke   +3 more
wiley   +1 more source

Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process

Molecular Genetics & Genomic Medicine, 2021
Background Diaphanospondylodysostosis (DSD) is a rare congenital, lethal skeletal disorder caused by recessively inherited mutations in the BMPER gene, which encodes the bone morphogenetic protein‐binding endothelial cell precursor‐derived regulator. The
Frederik Braun, Andrea Gangfuß, Petra Stöbe, Tobias B. Haack, Bernd Schweiger, Andreas Roos, Ulrike Schara   +6 more
doaj   +1 more source

Brain damage following whooping cough vaccination : is it time to lay the myth to rest? [PDF]

, 1998
Whooping cough causes significant morbidity and mortality, especially in early infancy. Although an effective vaccine exists, vaccine uptake in Malta was previously disappointing due to the general public’s and the medical community’s doubts regarding ...
Busuttil, Ray, Grech, Victor E.
core  

Is there consensus in defining childhood cerebral visual impairment? A systematic review of terminology and definitions [PDF]

, 2018
The childhood condition of visual difficulties caused by brain damage, commonly termed cortical or cerebral visual impairment (CVI), is well established but has no internationally accepted definition.
Bowman, R, Dale, NJ, Perez-Roche, T, Sakki, HEA, Sargent, J   +4 more
core   +4 more sources

Seizures in children with Dravet syndrome in extreme heat: A qualitative study of parental perspectives

Developmental Medicine &Child Neurology, EarlyView.
Perspectives of parents of children with Dravet syndrome indicate that extreme heat and high temperatures exacerbate epileptic seizures, introduce new seizure triggers, and require the adoption of specific seizure‑management strategies. Abstract Aim To describe parental perspectives on how heatwaves and high ambient temperatures influence seizure ...
Angel Aledo‐Serrano, José Ángel Aibar, Domingo Palacios‐Ceña, Maria Salcedo‐Perez‐Juana, Maria Palacios‐Ceña, Simona Giorgi, Manuel Lorenzo‐Dieguez, Sanjay M Sisodiya, Cristina García‐Bravo   +8 more
wiley   +1 more source

Somatosensory evoked potentials in children with autism

Alexandria Journal of Medicine, 2014
Introduction: Autism is a neurodevelopmental disorder in the category of pervasive developmental disorders (PDD), which is characterized by widespread abnormalities of social interactions, communication, and severely restricted interests and highly ...
Hanan Galal Azouz, Mona Khalil, Hayam Moustafa Abd El Ghani, Hatim Mohamed Hamed   +3 more
doaj   +1 more source