Results 181 to 190 of about 9,368,491 (315)

Investigation of Swallowing Performance and Family Impact in Children With Speech and Language Delay. [PDF]

Int J Lang Commun Disord
Koca F, Bengisu S, Demir N.
europepmc   +1 more source

Elevated Connectivity During Language Processing Is Associated With Cognitive Performance in SeLECTS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Self‐Limited Epilepsy with Centrotemporal Spikes (SeLECTS) is associated with language impairments despite seizures originating in the motor cortex, suggesting aberrant cross‐network interactions. Here we tested whether functional connectivity in SeLECTS during language tasks predicts language performance.
Wendy Qi, Katharine Lee, Kerry C. Nix, Miguel Menchaca, Xiwei Shé, Lorelei Santa Maria, Wei Wu, Zihuai He, Fiona M. Baumer   +8 more
wiley   +1 more source

P169: Characterizing the phenotypic spectrum and estimated penetrance of families with pathogenic loss of function variants in the FLT4 gene

Genetics in Medicine Open
Olivia Moran, Cherith Somerville, Miriam Reuter, Kelsey Kalbfleisch, Marci Schwartz, Xin Chen, Roozbeh Manshaei, Raymond Kim, Seema Mital, Rebekah Jobling   +9 more
doaj   +1 more source

Clinical Outcomes of SEEG‐Guided Radiofrequency Thermocoagulation in Children With Focal Drug‐Resistant Epilepsy: A Multicenter Real‐World Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stereoelectroencephalography‐guided radiofrequency thermocoagulation (SEEG‐RFTC) has emerged as a safe and effective minimally invasive treatment for children with drug‐resistant focal epilepsy. Although evidence from real‐world studies remains limited, numerous pediatric cases have demonstrated promising outcomes. This retrospective
Weitao Chen, Stéphane Jean, Weihong Liu, Yihai Dai, Xinrong Fang, Xiaoqiang Wei, Shan Chen, Shiwei Song   +7 more
wiley   +1 more source

P388: Noonan syndrome associated with a homozygous deep intronic variant in LZTR1 gene confirmed by RNA sequencing

Genetics in Medicine Open
Lucie Dupuis, Anna Szuto, Christian Marshall, Lianna Kyriakopoulou, Roberto Mendoza-Londono, Vanda McNiven   +5 more
doaj   +1 more source

Chinese Singaporean Children's Expectations About Peer Group Norms in the Context of Wealth and Ethnicity. [PDF]

Dev Sci
Paquette A, Singh L, Forbes MB, Killen M.   +3 more
europepmc   +1 more source

Deafness in Children [PDF]

Archives of Disease in Childhood, 1963
openaire   +2 more sources

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

"Disconnected From Everyone and Everything Around Them": A Mixed Method Study to Explore the Perspectives of Children With Language Difficulties and Their Caregivers On Mental Health Concerns and Mental Health Support. [PDF]

Int J Lang Commun Disord
Wilmot A, Boyes M, Kippin N, Van Heerden D, Jones K, Leitão S, Jackson E, Tonta K, Myers B, Hill E.   +9 more
europepmc   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source