Results 11 to 20 of about 41,811 (267)

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison   +3 more
wiley   +1 more source

CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett   +4 more
wiley   +1 more source

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...
Russell Stewart   +336 more
wiley   +1 more source

Mapping Postictal Aphasia through Signal Complexity: A Stereo‐Electroencephalography Study

open access: yesAnnals of Neurology, EarlyView.
Objective The postictal period provides an opportunity to investigate the pathophysiology underlying aphasia and recovery following epileptic seizures. This study examines postictal aphasia in stereo‐electroencephalography (SEEG)‐explored patients to identify brain regions associated with task‐specific language deficits using signal complexity analysis.
Ionuț‐Flavius Bratu   +6 more
wiley   +1 more source

Associating cognitive abilities with naturalistic search behavior

open access: yesJournal of the Association for Information Science and Technology, Volume 76, Issue 4, Page 665-685, April 2025.
Abstract Differences in cognitive abilities affect search behaviors, but this has mostly been observed in laboratory experiments. There is limited research on how users search for information in real‐world, naturalistic settings and how real‐world search behaviors relate to cognitive abilities.
Tung Vuong   +2 more
wiley   +1 more source

Pulmonalis or Pulmonaris? It's Elementarius, My Dear Watson

open access: yesClinical Anatomy, EarlyView.
ABSTRACT The adjectival suffix ‐alis and its allomorph ‐aris are very common in the anatomical nomenclature; however, rules governing differential usage, such as ‐aris substituting for ‐alis following an ‐l‐, leave many exceptions. Here, we report an empirical study of 985 adjectives with ‐alis and ‐aris suffixes used in Terminologia Anatomica (2nd ed.)
Paul E. Neumann   +3 more
wiley   +1 more source

Cognitive outcomes after deep brain stimulation in drug‐resistant epilepsy: A comparison of anterior thalamic and hippocampal stimulation

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Deep brain stimulation (DBS) of the anterior thalamic nucleus (ATN) and hippocampus is an emerging therapy for drug‐resistant epilepsy (DRE) when resective surgery is not feasible. We aimed to evaluate the long‐term cognitive outcomes of these two DBS targets, hypothesizing that both interventions preserve cognitive function ...
Seonjeong Kim   +5 more
wiley   +1 more source

Oncological Impact of Surgical Margin Status After Transoral Laser Microsurgery for Early Glottic Cancer

open access: yesHead &Neck, EarlyView.
ABSTRACT Background Transoral laser microsurgery is a well‐established treatment for early glottic cancer. However, managing patients with close/positive margins remains debated. This study analyzes the relationship between resection margins and oncologic outcomes.
Sae Hatomi   +4 more
wiley   +1 more source

Do the early social environment and persistent peripartum depressive symptoms shape toddlers' expressive language?

open access: yesJCPP Advances, EarlyView.
Abstract Background Extensive research suggests that peripartum depression is a risk factor for children's early language development. Yet, previous research on this association shows mixed results, often lacking information on the persistence of depression and the social context.
Hsing‐Fen Tu   +3 more
wiley   +1 more source

Impact of Socioeconomic Status and Family Language on Implanted Children's Communication Mode

open access: yesThe Laryngoscope, EarlyView.
ABSTRACT Objective Examination of the influence of socioeconomic status (SES) and family language on communication mode after cochlear implant (CI). Data Sources Data on 176 children implanted at < 37 months were obtained from medical records including insurance type as a representation of SES, family language (English‐only/Spanish‐bilingual/Spanish ...
Nancy M. Young   +4 more
wiley   +1 more source

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