Results 31 to 40 of about 433,850 (368)
Genetic and phenotypic spectrum in the NONO‐associated syndromic disorder
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 469-478, February 2023., 2023 Abstract The non‐POU domain‐containing octamer‐binding (NONO) protein is involved in multiple steps of gene regulation such as RNA metabolism and DNA repair. Hemizygous pathogenic variants in the NONO gene were confirmed to cause a rare X‐linked syndromic disorder. Through our in‐house diagnostics and subsequent matchmaking, we identified six unrelated
Franziska Roessler +21 more
wiley +1 more source
A Subset of Autism-associated Genes Regulate the Structural Stability of Neurons
Frontiers in Cellular Neuroscience, 2016 Autism spectrum disorder (ASD) comprises a range of neurological conditions that affect individuals’ ability to communicate and interact with others. People with ASD often exhibit marked qualitative difficulties in social interaction, communication, and ...
Yu-Chih Lin +4 more
doaj +1 more source
Cohort profile: the Australian Longitudinal Study of Adults with Autism (ALSAA)
BMJ Open, 2019 Purpose There is a significant knowledge gap regarding the lives of adults on the autism spectrum. Some literature suggests significant health and mental health inequalities for autistic adults, yet there is a lack of comprehensive longitudinal studies ...
Julian Trollor +11 more
doaj +1 more source
Avoiding Ableist Language: Suggestions for Autism Researchers
Autism in Adulthood, 2020 In this commentary, we describe how language used to communicate about autism within much of autism research can reflect and perpetuate ableist ideologies (i.e., beliefs and practices that discriminate against people with disabilities), whether or not ...
K. Bottema‐Beutel +4 more
semanticscholar +1 more source
, 2023 American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 284-288, January 2023.
Lucia Pia Bruno +11 more
wiley +1 more source
Sex differences in the temporal dynamics of autistic children’s natural conversations
Molecular Autism, 2023 Background Autistic girls are underdiagnosed compared to autistic boys, even when they experience similar clinical impact. Research suggests that girls present with distinct symptom profiles across a variety of domains, such as language, which may ...
Sunghye Cho +10 more
doaj +1 more source
Journal of Paediatrics and Child Health, 2018 Using DSM-IV, patients could be diagnosed with four separate disorders: autistic disorder, Asperger’s disorder, childhood disintegrative disorder, or the catch-all diagnosis of pervasive developmental disorder not otherwise specified.
B. Lo +3 more
semanticscholar +1 more source
Frontiers in Endocrinology, 2022 It is acknowledged that diethylstilbestrol (DES), a synthetic diphenol with powerful estrogenic properties, causes structural anomalies of the reproductive tract and increases the risk of cancer and genital malformations in children and grandchildren of mothers treated during pregnancy.
Marie-Odile Soyer-Gobillard +7 more
openaire +4 more sources
Introducing CALMED: Multimodal Annotated Dataset for Emotion Detection in Children with Autism [PDF]
HCII 2023: Universal Access in Human-Computer Interaction,
Margherita Antona; Constantine Stephanidis, Jul 2023, Copenhagen, Denmark.
pp.657-677, 2023 Automatic Emotion Detection (ED) aims to build systems to identify users' emotions automatically. This field has the potential to enhance HCI, creating an individualised experience for the user. However, ED systems tend to perform poorly on people with Autism Spectrum Disorder (ASD).
arxiv +1 more source
Evidence against the “normalization” prediction of the early brain overgrowth hypothesis of autism
Molecular Autism, 2020 Background The frequently cited Early Overgrowth Hypothesis of autism spectrum disorder (ASD) postulates that there is overgrowth of the brain in the first 2 years of life, which is followed by a period of arrested growth leading to normalized brain ...
Lisa D. Yankowitz +5 more
doaj +1 more source