Results 71 to 80 of about 691,001 (359)

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

open access: yesMolecular 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
doaj   +1 more source

Abnormal white matter tracts resembling pencil fibers involving prefrontal cortex (Brodmann area 47) in autism: a case report. [PDF]

open access: yes, 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
core   +1 more source

Single‐Nucleus RNA Sequencing Reveals Mid‐Gestational Neurodevelopment Features in the Superior Temporal Plane from Fetuses with Nonsyndromic Cleft Lip and Palate

open access: yesAdvanced Science, EarlyView.
Single‐nucleus RNA sequencing of mid‐gestation brains from fetuses with nonsyndromic cleft lip and palate reveals major disruptions in cell composition, cell‐to‐cell signaling, and gene regulation. The transcription factor MEF2C is identified as a central regulator of these changes and shows that lowering MEF2C impairs synapse formation, linking cleft ...
Liu‐Lin Xiong   +19 more
wiley   +1 more source

The Autism Toolbox : An Autism Resource for Scottish Schools [PDF]

open access: yes, 2009
The Autism Toolbox will draw upon a range of practice experience, literature and research to offer guidance for authorities and schools providing for children and young people with Autism Spectrum Disorders (ASD)
Dunlop, Aline-Wendy   +5 more
core   +1 more source

Analyzing the Triad Diagnosis Requirement for Autism in Arkansas [PDF]

open access: yes, 2020
Autism Spectrum Disorder (ASD) is a developmental disorder that has steadily increased in incidence and prevalence over the last ten years. While the disorder can be diagnosed as early as two years of age, most children do not receive a diagnosis until ...
Barrientos-Figueroa, Liliana
core   +2 more sources

Inter-rater reliability of treatment fidelity and therapeutic alliance measures for psychological therapies for anxiety in young people with autism spectrum disorders [PDF]

open access: yes, 2014
Objectives: This article presents work undertaken to establish inter-rater reliability for a measure of treatment fidelity and a measure of therapeutic alliance for therapies for anxiety for young people with autism spectrum disorders. The discussion and
Brown, Rachel   +7 more
core   +1 more source

Stereotypes of autism [PDF]

open access: yesPhilosophical Transactions of the Royal Society B: Biological Sciences, 2009
In their landmark papers, both Kanner and Asperger employed a series of case histories to shape clinical insight into autistic disorders. This way of introducing, assessing and representing disorders has disappeared from today's psychiatric practice, yet it offers a convincing model of the way stereotypes may build up as a result of representations of ...
openaire   +3 more sources

NEAT1 Promotes Epileptogenesis in Tuberous Sclerosis Complex

open access: yesAdvanced Science, EarlyView.
The primary neurological manifestations of tuberous sclerosis complex (TSC) are intractable epilepsy and intellectual disability. NEAT1 is differentially expressed in TSC‐related epilepsy and influences neuronal excitability by regulating the PI3K/AKT/mTOR signaling pathway.
Suhui Kuang   +8 more
wiley   +1 more source

Autistic adults have poorer quality healthcare and worse health based on self-report data

open access: yesMolecular Autism, 2022
Background Recent research suggests that autistic individuals have shorter lifespans and experience worse health (greater health burden) than non-autistic individuals.
Elizabeth Weir   +2 more
doaj   +1 more source

A Review on the Cognitive Neuroscience of Autism [PDF]

open access: yes, 2005
With increased recognition in the media, heightened prevalence, and advances in research technologies, investigation into the causes of autism has broadened in recent years.
Koyama, Alain
core  

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