Results 51 to 60 of about 705,262 (256)
The American Journal of Human Genetics, 2008 In this issue of AJHG, Alarcón et al.,(1) Arking et al.,(2) and Bakkaloglu et al.(3) identify a series of functional variants in the CNTNAP2 gene that unequivocally implicate this gene as causing Type 1 autism in the general population.
openaire +2 more sources
MED13L-related disorder characterized by severe motor speech impairment
Journal of Neurodevelopmental DisordersBackground MED13L-related disorder is associated with intellectual disability, motor delay, and speech deficits. Previous studies have focused on broad clinical descriptions of individuals, but limited information regarding specific speech diagnoses and ...
Marissa W. Mitchel +5 more
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Linguistic markers of autism in girls: evidence of a “blended phenotype” during storytelling
Molecular Autism, 2019 Background Narrative abilities are linked to social impairment in autism spectrum disorder (ASD), such that reductions in words about cognitive processes (e.g., think, know) are thought to reflect underlying deficits in social cognition, including Theory
Jaclin Boorse +6 more
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Nature CommunicationsA female protective effect has long been postulated as the primary explanation for the four-fold increase of autism spectrum disorder (ASD) diagnoses in males versus females.
Alexander S. F. Berry +7 more
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Frontiers in Integrative Neuroscience, 2013 There is increasing evidence to show that indicators other than socio-cognitive abilities might predict communicative function in Autism Spectrum Disorders (ASD).
Katherine eSullivan +4 more
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Effects of oxytocin administration on salivary sex hormone levels in autistic and neurotypical women
Molecular Autism, 2020 Background Oxytocin administration, which may be of therapeutic value for individuals with social difficulties, is likely to affect endogenous levels of other socially relevant hormones.
Tanya L. Procyshyn +9 more
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Large scale validation of an early-age eye-tracking biomarker of an autism spectrum disorder subtype
Scientific Reports, 2022 Few clinically validated biomarkers of ASD exist which can rapidly, accurately, and objectively identify autism during the first years of life and be used to support optimized treatment outcomes and advances in precision medicine.
Teresa H. Wen +10 more
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The prevalence of autism spectrum disorders in China: A comprehensive meta-analysis [PDF]
, 2018 There are conflicting prevalence estimates of autism spectrum disorders (ASDs) in mainland China (China thereafter). This study is a comprehensive meta-analysis of the pooled prevalence of ASDs in the general population in China.
Cao, Xiao-Lan +10 more
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Molecular Autism, 2018 Background Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused by 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing ...
Silvia De Rubeis +13 more
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Abnormal white matter tracts resembling pencil fibers involving prefrontal cortex (Brodmann area 47) in autism: a case report. [PDF]
, 2016 BackgroundAutism is not correlated with any neuropathological hallmark as the brain of autistic individuals lack defined lesions. However, previous investigations have reported cortical heterotopias and local distortion of the cytoarchitecture of the ...
Ariza, Jeanelle +4 more
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