Results 211 to 220 of about 24,165 (274)

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source

ToM² : Parental Perception of Theory of Mind Abilities in Autistic Children. [PDF]

Autism Res
Joseph LS, Perez M, Perry A, Koller J.
europepmc   +1 more source

Prevalence of autism spectrum disorder symptomatology and related behavioural characteristics in persons with Down syndrome [PDF]

, 2012
Moss, J, Nelson, L, Oliver, C, Richards, C   +3 more
core  

Neurodiversity and intersectionality in the workplace: A narrative review and research agenda

International Journal of Management Reviews, EarlyView.
Abstract Neurodiversity has important implications for individuals and organizations as an increasingly salient but under‐researched dimension of diversity in the workplace. In this article, we provide an interdisciplinary review of neurodiversity research through the lens of intersectionality, with a particular focus on the potential ways ...
Thomas Calvard, Debora Gottardello, Ji‐Won Song   +2 more
wiley   +1 more source

Beyond overdiagnosis: reframing autism prevalence through a neurodivergent phenotype lens. [PDF]

J Pediatr (Rio J)
Hauck S, de Oliveira LT.
europepmc   +1 more source

Annual Research Review: What processes are dysregulated among emotionally dysregulated youth? – a systematic review

Journal of Child Psychology and Psychiatry, Volume 66, Issue 4, Page 516-546, April 2025.
Proliferation of the term “emotion dysregulation” in child psychopathology parallels the growing interest in processes that influence negative emotional reactivity. While it commonly refers to a clinical phenotype where intense anger leads to behavioral dyscontrol, the term implies etiology because anything that is dysregulated requires an impaired ...
Joseph C. Blader, Amy S. Garrett, Steven R. Pliszka   +2 more
wiley   +1 more source

Epigenome-wide analysis identifies DNA methylation signatures associated with the infant pupillary light reflex, a candidate intermediate phenotype for autism. [PDF]

Sci Rep
Fish LA, Gliga T, Gui A, Ali JB, Mason L, Johnson MH, Charman T, Falck-Ytter T, Jones EJH, Kandaswamy R, Happé F, Wong CCY.   +11 more
europepmc   +1 more source

On the regulation and dysregulation of emotions in child psychopathology: commentary on Blader et al. (2025)

Journal of Child Psychology and Psychiatry, Volume 66, Issue 4, Page 595-598, April 2025.
Blader et al.'s (2025) recent annual review article makes an important contribution to the literature on emotion dysregulation in child and adolescent mental health. In addition to synthesizing the current evidence base, the authors put forth a cogent formalized view of emotion regulatory processes and how they go awry. Much has been written on emotion
Spencer C. Evans, Robert R. Althoff
wiley   +1 more source

Autonomic Function in Fragile X Syndrome: A Systematic Review

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Fragile X syndrome (FXS) is a monogenic X‐linked cause of intellectual disability and autism. Individuals with FXS often have high levels of anxiety and sometimes display challenging behaviours. Autonomic dysfunction has been suggested to be one physiological mechanism that may contribute to these.
Sydni Weissgold, Sarah E. A. Eley, Damien Wright, Andrew G. McKechanie, Andrew C. Stanfield   +4 more
wiley   +1 more source

Resolving Diagnostic Uncertainty in Neurodevelopmental Disorders Using Exome Sequencing Supported by Literature-Based Multi-Omics Evidence. [PDF]

Biomolecules
Krgovic D, Gradisnik P, Osterc Koprivsek A, Kogovsek A, Kokalj Vokac N, Stangler Herodez S.   +5 more
europepmc   +1 more source