Results 121 to 130 of about 171,338 (299)

Effectiveness of the ADEC as a level 2 screening test for young children with suspected autism spectrum disorders in a clinical setting [PDF]

open access: yes, 2015
Background The Autism Detection in Early Childhood (ADEC) is a clinician-administered, Level 2 screening tool. A retrospective file audit was used to investigate its clinical effectiveness. Method Toddlers referred to an Australian child development
Fallows, R., Murphy, Glynis H., Dix, L.
core   +1 more source

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

Correlation patterns between pretend play and playfulness in children with autism spectrum disorder, developmental delay, and typical development

open access: yes, 2017
This study aims to explore the relationships between pretend play and playfulness in children with autism spectrum disorder (ASD), children with developmental delay (DD), and typically developing (TD) children.
Lee, Ya-Chen;Chan, Ping-Chen;Lin, Shu-Kai;Chen, Cheng-Te;Huang, Chien-Yu;Chen, Kuan-Lin
core   +1 more source

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc   +7 more
wiley   +1 more source

Autism spectrum disorder

open access: yesCurrent Opinion in Psychiatry, 2017
Until recently, there has been little systematic study of adult life among individuals with autism spectrum disorder (ASD) but recognition of the high psychological and social costs of ASD has led to an increase in adult-focused research over the past decade.
Howlin, Patricia, Magiati, Iliana
openaire   +3 more sources

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

open access: yes, 2011
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social ...
Guter, Stephen J.   +694 more
core   +1 more source

An evaluation of the Cygnet parenting support programme for parents of children with autism spectrum conditions [PDF]

open access: yes, 2016
Parents of children on the autistic spectrum often struggle to understand the condition and, related to this, manage their child’s behaviour. Cygnet is a parenting intervention which aims to help parents address these difficulties, consequently improving
Beresford, Bryony Anne   +6 more
core   +1 more source

Sleep Disturbances in Adults With Tuberous Sclerosis Complex: Influences of Treatment and Clinical Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard   +6 more
wiley   +1 more source

Hormonal disorders in autism spectrum disorders

open access: yesHormone Molecular Biology and Clinical Investigation
Abstract Autism spectrum disorder (ASD) is a pervasive neurobehavioral condition characterized by disruption of behavioral and emotional patterns in individuals with this condition. Given that various environmental and genetic factors play a fundamental role in the pathophysiology of ASD, it can be said that ASD is a multifaceted ...
Solmaz, Jalilzadeh Khalet Abad   +5 more
openaire   +2 more sources

Refining Domain‐Based Prognostication in DNM1 Encephalopathy: A Mild Phenotype Associated With a GTPase Domain Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain   +6 more
wiley   +1 more source

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