Results 91 to 100 of about 334,765 (343)

Attentional allocation of autism spectrum disorder individuals: Searching for a Face-in-the-Crowd. [PDF]

open access: yes, 2015
A study is reported which tests the proposition that faces capture the attention of those with autism spectrum disorders less than a typical population.
Heavey, L, Moore, DJ, Reidy, J
core   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan   +4 more
wiley   +1 more source

USE OF ROBOT IN THE EDUCATION OF INDIVIDUALS WITH AUTISM SPECTRUM DISORDER

open access: yesTrakia Journal of Sciences
OBJECTIVE: In this study, it was aimed to examine the importance of robot use in the education of individuals with autism spectrum disorder.METHOD: This study was designed as a literature review since it was aimed to examine the importance of the use of ...
M. Yavuz, H. Nuri
doaj   +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

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

Tracing the temporal stability of autism spectrum diagnosis and severity as measured by the Autism Diagnostic Observation Schedule: A systematic review and meta-analysis.

open access: yesPLoS ONE, 2017
BackgroundExploring ways to improve the trajectory and symptoms of autism spectrum disorder is prevalent in research, but less is known about the natural prognosis of autism spectrum disorder and course of symptoms.
Łucja Bieleninik   +5 more
doaj   +1 more source

Predictive impact of rare genomic copy number variations in siblings of individuals with autism spectrum disorders. [PDF]

open access: yes, 2019
Identification of genetic biomarkers associated with autism spectrum disorders (ASDs) could improve recurrence prediction for families with a child with ASD.
Brian, J   +21 more
core   +2 more sources

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

The I in Autism:severity and social functioning in Autism is related to self-processing [PDF]

open access: yes, 2017
It is well established that children with autism spectrum disorder (ASD) show impaired understanding of others and deficits within social functioning. However, it is still unknown whether self-processing is related to these impairments and to what extent
Ballantyne, Carrie   +4 more
core   +5 more sources

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

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