Results 221 to 230 of about 61,817 (299)

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

open access: yesClinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw   +30 more
wiley   +1 more source

Screening for brain‐related comorbidities in Duchenne muscular dystrophy: Construction, reliability, and validity of the BIND screener

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
The Brain Involvement iN Dystrophinopathies (BIND) screener is an 18‐item questionnaire with strong reliability and validity for identifying potential brain‐related comorbidities in Duchenne muscular dystrophy. It allows rapid, cross‐age and cross‐country screening for both clinical and research purposes, demonstrating good sensitivity and specificity.
Ruben Miranda   +46 more
wiley   +1 more source

Autism spectrum disorder in children with spinal muscular atrophy type 1: Case series

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Autism spectrum disorder (ASD) was identified in 37.5% of children with SMA (n = 13). While IQ did not differ significantly between groups, adaptive functioning was reduced in those with co‐occurring ASD. Results support routine early neurodevelopmental screening in children with spinal muscular atrophy.
Lorena V. Rezende   +4 more
wiley   +1 more source

Developmental stuttering with common and complex phenotypes

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Aim To describe the phenotypic spectrum associated with stuttering. Method Individuals with current or resolved developmental stuttering self‐referred. Surveys assessed stuttering characteristics (onset, negative impact, family history) and health (early development, other conditions). Speech and non‐verbal intelligence were assessed using conversation
Sarah E. Horton   +6 more
wiley   +1 more source

Autistic Traits in Schizophrenia: Immune Mechanisms and Inflammatory Biomarkers. [PDF]

open access: yesInt J Mol Sci
Suprunowicz M   +3 more
europepmc   +1 more source

Embarrassment and the Social Dimensions of Moral Agency

open access: yesEuropean Journal of Philosophy, EarlyView.
Abstract Unlike guilt and shame, embarrassment is rarely considered by philosophers to be a morally relevant emotion.This downplaying of embarrassment is well justified, given traditional views on moral agency. However, recent theorists have argued that the traditional views are too individualistic and overlook the external social conditions that they ...
Shawn Tinghao Wang
wiley   +1 more source

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