Results 91 to 100 of about 2,345,404 (292)

Inner speech is used to mediate short-term memory, but not planning, among individuals with autism spectrum disorder [PDF]

open access: yes, 2012
Evidence regarding the use of inner speech by individuals with autism spectrum disorder (ASD) is equivocal. To clarify this issue, the current study employed multiple techniques and tasks used across several previous studies.
Jarrold, C   +13 more
core   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert   +31 more
wiley   +1 more source

Development of autobiographical memory in children with autism spectrum disorders : deficits, gains, and predictors of performance [PDF]

open access: yes, 2014
Autobiographical memory (AM) was assessed in 63 children (aged 8-17 years) with an autism spectrum disorder (ASD) and compared with 63 typically developing children matched for age, gender, IQ, and verbal ability.
Goddard, L.   +7 more
core   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula   +8 more
wiley   +1 more source

Autism spectrum disorder and PTEN hamartoma tumor syndrome – Child and adolescent psychiatric perspective

open access: yesPortuguese Journal of Pediatrics
Introduction: Autism spectrum disorder is a neurodevelopmental disorder characterized by impairments in social communication and social interaction and the presence of restricted, repetitive patterns of behavior, interests, or activities that negatively ...
Marta P. Antunes   +5 more
doaj   +1 more source

Autism Spectrum Disorders [PDF]

open access: yesNeuron, 2000
Lord, Catherine   +3 more
openaire   +2 more sources

The use of joint attention in the naturalistic setting in children with Autism Spectrum Disorder [PDF]

open access: yes, 2015
This study investigates the deficits in the quantity and quality of joint attention in children with Autism Spectrum Disorder (ASD). To obtain a holistic measure of joint attention, the following four aspects were considered: a) the quantity of ...
Agius, Joseph, Dalli, Cheryl
core   +1 more source

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale   +2 more
wiley   +1 more source

The Hemoglobin-to-Red Cell Distribution Width Ratio and Systemic Inflammatory Response Index in Children with Autism Spectrum Disorder

open access: yesNeuropsychiatric Investigation
Objective: Inflammation is reported to play an important role in the etiology of autism spectrum disorder. The purpose of this study was to investigate hemoglobin-to-red blood cell distribution width ratio (HRR) and systemic inflammatory response index ...
Orhan Kocaman   +3 more
doaj   +1 more source

Home - About - Disclaimer - Privacy