Results 21 to 30 of about 433,850 (368)
Sex differences in the first impressions made by girls and boys with autism
Molecular Autism, 2020 Background Individuals with autism spectrum disorder (ASD) are characterized by social communication challenges and repetitive behaviors that may be quickly detected by experts (Autism Res 10:653–62, 2017; American Psychiatric Association, Diagnostic and
Meredith L. Cola +9 more
doaj +1 more source
eXtended Reality for Autism Interventions: The importance of Mediation and Sensory-Based Approaches [PDF]
, 2021 eXtended Reality (XR) autism research, ranging from Augmented Reality to Virtual Reality, focuses on socio-emotional abilities and high-functioning autism. However common autism interventions address the entire spectrum over social, sensory and mediation issues.
arxiv +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 332-337, February 2023., 2023 Abstract GTF2IRD1, a gene on chromosome 7 which encodes a transcription factor, is of significant clinical interest due to its heterozygous loss as part of the classical deletion associated with Williams–Beuren syndrome (WBS). However, biallelic variants in GTF2IRD1 alone as part of an autosomal recessive disease have not been previously reported. Here,
Christopher Thomas Cummings +1 more
wiley +1 more source
Molecular Autism, 2023 Background Intranasal administration of oxytocin is increasingly explored as a new approach to facilitate social development and reduce disability associated with a diagnosis of autism spectrum disorder (ASD).
Nicky Daniels +9 more
doaj +1 more source
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 357-369, February 2023., 2023 Abstract Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]: CGG ≥ 200 repeats) and silencing of FMR1. Assessment of mosaicism for active‐unmethylated alleles has prognostic utility.
Emma K. Baker +17 more
wiley +1 more source
BMC Pediatrics, 2018 Background The phenotypic and genetic heterogeneity of autism spectrum disorder (ASD) presents considerable challenges in understanding etiological pathways, selecting effective therapies, providing genetic counselling, and predicting clinical outcomes ...
Gail A. Alvares +15 more
doaj +1 more source
Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 378-390, February 2023., 2023 Abstract Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11‐duplications detected in about 2%–3% of all patients.
Agneta Nordenskjöld +9 more
wiley +1 more source
Morbidity and mortality weekly report. Surveillance summaries, 2018 Problem/Condition Autism spectrum disorder (ASD). Period Covered 2014. Description of System The Autism and Developmental Disabilities Monitoring (ADDM) Network is an active surveillance system that provides estimates of the prevalence of autism spectrum
J. Baio +25 more
semanticscholar +1 more source
GZ - Psychologie, 2015 Contains fulltext : 150520.pdf (Publisher’s version ) (Open Access)
openaire +4 more sources
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 424-436, February 2023., 2023 Abstract Several changes in the behavioral phenotype arise with the growth of children affected by Cornelia de Lange Syndrome (CdLS) and Rubinstein‐Taybi Syndrome (RSTS). However, previous research relied on a cross‐sectional study design turning into age‐related comparisons of different syndromic cohorts to explore age‐dependent changes.
Paola Francesca Ajmone +11 more
wiley +1 more source