Results 141 to 150 of about 827,442 (390)

Purkinje cell-specific Grip1/2 knockout mice show increased repetitive self-grooming and enhanced mGluR5 signaling in cerebellum [PDF]

open access: yes, 2019
Cerebellar Purkinje cell (PC) loss is a consistent pathological finding in autism. However, neural mechanisms of PC-dysfunction in autism remain poorly characterized.
Chiu, Shu-Ling   +6 more
core   +1 more source

Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delays, typical facial features, ataxia, seizures, speech impairments, sleeping difficulties, and a happy demeanor. Caregivers of individuals with AS often report feeding problems, with difficulties including issues with obesity, failure to gain ...
Ciara Cassidy   +6 more
wiley   +1 more source

Attitudes Toward Autism [PDF]

open access: yes, 2009
Many studies have been conducted to observe the effect of contact on attitudes toward people with mental illnesses, but few studies have observed the effect of contact on attitudes toward individuals on the autism spectrum specifically.
Edyvean, Carrie
core   +2 more sources

Neuropathology of Autism

open access: yesPediatric Neurology Briefs, 2002
A computerized imaging program was used to measure cell column morphological features in area 9 of the prefrontal cortex and areas 21 and posterior 22 in the temporal lobe of 9 brains of autistic patients and controls, in a study at the Medical College of Georgia, Augusta.
openaire   +5 more sources

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear   +16 more
wiley   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology. [PDF]

open access: yes, 2014
Autism spectrum disorders (ASDs) are complex and heterogeneous developmental disabilities affecting an ever-increasing number of children worldwide. The diverse manifestations and complex, largely genetic aetiology of ASDs pose a major challenge to the ...
Adamopoulos, Iannis E   +9 more
core   +2 more sources

Early Infantile Autism in Fraternal Twins [PDF]

open access: bronze, 1964
Tracey Ward, B. A. Hoddinott
openalex   +1 more source

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy   +15 more
wiley   +1 more source

National Autism Indicators Report: Vocational Rehabilitation 2016 [PDF]

open access: yes, 2016
Employment is about more than simply earning a paycheck - it influences quality of life, independence, and wellness. Historically, employment outcomes for adults with autism are poor. The U.S.
Anne M. Roux   +3 more
core  

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