Results 181 to 190 of about 17,977,226 (311)

Correction: The Links Between Parents' Self-Stigma, Parental Burnout, Parental Competence, and Socio-Emotional Adjustment Among Parents of Children With Autism Spectrum Disorder. [PDF]

J Autism Dev Disord
Aktu Y, Toğluk S, Vural B.
europepmc   +1 more source

Frequency and Phenotype of Coexisting Aquaporin‐4 and Autoimmune Encephalitis Autoantibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Among 9457 aquaporin‐4 (AQP4) immunoglobulin G‐positive patients, 2071 underwent autoimmune encephalitis antibody testing and 85 (4%) had coexisting antibodies, most commonly cerebrospinal fluid glial fibrillary acidic protein‐IgG and N‐methyl‐D‐aspartate receptor‐IgG, or serum high‐titer GAD65‐IgG.
Laura Cacciaguerra, Binxia Yang, Vanda A. Lennon, Shruti P. Agnihotri, Nusrat Ahsan, Karen S. Fernandez, Erin McLeod, Georgios Mangioris, William R. Meador, Wendy G. Mitchell, Jacqueline A. Nicholas, Amy M. L. Quek, Thomas Shoemaker, Kurt Sieloff, Matt C. Edmond, Rebekah A. Laggis, Kristin L. Flynn, Jessica A. Sagen, Emmanuelle Waubant, John J. Chen, Sarosh R. Irani, Andrew McKeon, Anastasia Zekeridou, Eoin P. Flanagan, Sean J. Pittock, Amy Kunchok   +25 more
wiley   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

Exclusion From Childcare Centre Attendance in Toddler and Preschool Patients in a Psychiatric Day Clinic: Patterns From Comparison of a 2018/2019 and a 2023/2024 Cohort. [PDF]

Child Care Health Dev
Bonnekoh LM, Friese L, Fellmeth RH, Sánchez Guerrero HA, Hansen S, Müller JM, Hubbert J, Dannlowski U, Romer G, Janßen M.   +9 more
europepmc   +1 more source

Axial Function Reflects Global Severity in Inherited Ataxias: The Upright Stability Score in Ambulatory Friedreich vs. Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Inherited ataxias are clinically diverse neurodegenerative diseases, complicating the choice of outcome measures for trials. In spinocerebellar ataxia (SCA), regulatory concerns about the Scale for the Assessment and Rating of Ataxia (SARA) caused a shift toward functional SARA (f‐SARA), contributing to pivotal trial failure.
Christian Rummey, S. H. Subramony, David R. Lynch, Louise A. Corben, Martin B. Delatycki, Jörg B. Schulz, Kathrin Reetz, Massimo Pandolfo, Matthis Synofzik, Theresa Zesiewicz, Antoine Duquette, Matthew Burns, Martin Vyhnálek, Lucie Stovickova, Sinead M. Murphy, Petya Bogdanova‐Mihaylova, Mary Kearney, Richard Walsh, Richard H. Roxburgh, Khalaf Bushara, Marie Y. Davis, Enrico S. Bertini, Gessica Vasco, Shweta Sahni, Mohammed Faruq, Achal K. Srivastava, Bart van de Warrenburg, Elisabetta Indelicato, Sylvia Boesch, Andrew Billnitzer, Tetsuo Ashizawa, Anoopum S. Gupta, Grace Yoon, Georgios Koutsis, Chrysoula Koniari, Zofia Fleszar, Christopher M. Gomez, Andrea Martinuzzi, Gabriella Paparella, Ali G. Hamedani, Puneet Opal, Rizwan S. Akhtar, Caterina Mariotti, Henry Paulson, Peter Todd, Sharan R. Srinivasan, George Wilmot, Ludger Schöls, Susan Perlman, Jeremy D. Schmahmann, Sheng‐Han Kuo, Liana S. Rosenthal, Vikram G. Shakkottai   +52 more
wiley   +1 more source

"It cannot depend solely on the parents"-professionals' perspectives on patient journeys of children with chronic conditions across health and social care in Germany. [PDF]

Eur J Pediatr
Herr CJ, Herrler A, De Bock F.
europepmc   +1 more source

Disentangling the Genetic Relationship Between Sleep and Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective A bidirectional relationship between sleep and epilepsy is well recognised, yet the biological mechanisms linking them remain poorly understood. Both have a genetic basis, with genome‐wide association studies (GWAS) capturing polygenic contributions.
Khang N. Le, Victoria E. Jackson, Rachel E. Stirling, Zachary F. Gerring, Remi Stevelink, Samuel F. Berkovic, Ingrid E. Scheffer, Philippa J. Karoly, Melanie Bahlo, Karen L. Oliver   +9 more
wiley   +1 more source

Behavioural Problems in Developmental Disorders: A Paediatrician's Guide. [PDF]

J Paediatr Child Health
Efron D.
europepmc   +1 more source

Rheumatoid Arthritis and Coronary Artery Calcium Progression: A Case Cohort Analysis From ELSA‐Brasil

Arthritis Care &Research, EarlyView.
Objective To investigate the association between rheumatoid arthritis (RA) and coronary artery calcium (CAC) prevalence, incidence, and progression over four years in adults without prior cardiovascular disease. Methods A case‐cohort study within the Brazilian Longitudinal Study of Adult Health (ELSA‐Brasil) included 585 participants (86 patients with ...
Patrícia Fonseca Estrada, Marcos Rafael N. Cavalcante, Itamar de Souza Santos, Márcio S. Bittencourt, Vandrize Meneghini, Paulo A. Lotufo, Alessandra C. Goulart, Isabela M. Bensenor   +7 more
wiley   +1 more source