Results 81 to 90 of about 155,668 (297)

Learning Environments for Children with Autism - End of Year Report, July 07 [PDF]

open access: yes
The aim of the Learning Environments research project is to develop an environment which provides optimal support towards meeting the needs of children with profound autistic spectrum disorder in order to assist them in engaging as effective learners ...
Brooks, Tamara
core  

Impaired neurodevelopmental pathways in autism spectrum disorder: a review of signaling mechanisms and crosstalk. [PDF]

open access: yes, 2019
BackgroundThe development of an autistic brain is a highly complex process as evident from the involvement of various genetic and non-genetic factors in the etiology of the autism spectrum disorder (ASD). Despite being a multifactorial neurodevelopmental
Gu, Ran   +5 more
core  

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Epilepsy in Children with Autistic Spectrum Disorder

open access: yesChildren, 2019
The comorbidity of autistic spectrum disorder (ASD) and epilepsy has been widely discussed but many questions still remain unanswered. The aim of this study was to establish the occurrence of epilepsy among children with ASD to define the type of ...
Iliyana Pacheva   +8 more
doaj   +1 more source

Enactivism, other minds, and mental disorders [PDF]

open access: yes, 2019
Although enactive approaches to cognition vary in terms of their character and scope, all endorse several core claims. The first is that cognition is tied to action.
Krueger, Joel
core   +2 more sources

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 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

Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision‐Making and Polygenic Embryo Screening

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn   +11 more
wiley   +1 more source

Psychiatric and Cognitive Features in Italian Women With the FMR1 Premutation: A Comprehensive Assessment Using SCID‐5 and Standardized Cognitive Measures

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro   +5 more
wiley   +1 more source

Social camouflaging predicts eating disorder symptomatology among female patients with Borderline Personality Disorder

open access: yesFrontiers in Psychiatry
BackgroundBorderline Personality Disorder (BPD) frequently co-occurs with both eating disorders (EDs) and elevated autistic traits, particularly among women.
Barbara Carpita   +12 more
doaj   +1 more source

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