نتایج جستجو برای: broad autism phenotype questionnaire bapq
تعداد نتایج: 527153 فیلتر نتایج به سال:
Autism is a heterogeneous behaviorally defined neurodevelopmental disorder. It is defined by the presence of marked social deficits, specific language abnormalities, and stereotyped repetitive patterns of behavior. Because of the variability in the behavioral phenotype of the disorder among patients, the term autism spectrum disorder has been established. In the first part of this review, we pr...
CGG-repeat expansion mutations of the fragile X mental retardation 1 (FMR1) gene are the leading known cause of autism and autism spectrum disorders (ASD). Full mutation expansions (>200 CGG repeats) of the gene are generally silenced, resulting in absence of the FMR1 protein and fragile X syndrome. By contrast, smaller expansions in the premutation range (55-200 CGG repeats) result in excess g...
To date, no standardized measures have been developed to evaluate the mealtime behavior of children with autism. The Brief Autism Mealtime Behavior Inventory (BAMBI) was designed to measure mealtime behavior problems observed in children with autism. Caregivers of 40 typically developing children and 68 children with autism completed the BAMBI, the Behavioral Pediatric Feeding Assessment Scale ...
NHE9 (SLC9A9) is an endosomal cation/proton antiporter with orthologues in yeast and bacteria. Rare, missense substitutions in NHE9 are genetically linked with autism but have not been functionally evaluated. Here we use evolutionary conservation analysis to build a model structure of NHE9 based on the crystal structure of bacterial NhaA and use it to screen autism-associated variants in the hu...
BACKGROUND Williams-Beuren syndrome (WBS), a rare developmental disorder caused by deletion of contiguous genes at 7q11.23, has been characterized by strengths in socialization (overfriendliness) and communication (excessive talkativeness). WBS has been often considered as the polar opposite behavioral phenotype to autism. Our objective was to better understand the range of phenotypic expressio...
Negatives attitudes toward children with autism are an important barrier to school inclusion. Despite the increasing amount of research, no psychometrically sound scale reliably measures these in young students. Our aim was develop and validate a tool (Children’s Attitudes Toward Autism Questionnaire) evaluate (three dimensions) students elementary peers autism. Elementary ( N = 204) completed ...
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