Search results for "ISM [X-rays]"
showing 10 items of 1406 documents
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
2022
De novo variants in QRICH1 (Glutamine-rich protein 1) has recently been reported in 11 individuals with intellectual disability. The function of QRICH1 is largely unknown but it is likely to play a key role in the unfolded response of endoplasmic reticulum (ER) stress through transcriptional control of proteostasis. In this study, we present 27 additional individuals and delineate the clinical and molecular spectrum of the individuals (n=38) with QRICH1 variants. The main clinical features were mild to moderate developmental delay/intellectual disability (71%), non-specific facial dysmorphism (92%) and hypotonia (39%). Additional findings included poor weight gain (29%), short stature (29%)…
Semantic Verbal Fluency in Children with and without Autism Spectrum Disorder: Relationship with Chronological Age and IQ
2016
We administered a semantic verbal fluency (SVF) task to two groups of children (age range from 5 to 8): 47 diagnosed with Autism Spectrum Disorder (ASD Group) and 53 with typical development (Comparison Group), matched on gender, chronological age, and non-verbal IQ. Four specific indexes were calculated from the SVF task, reflecting the different underlying cognitive strategies used: clustering (component of generativity and lexical-semantic access), and switching (executive component, cognitive flexibility). First, we compared the performance of the two groups on the different SVF task indicators, with the ASD group scoring lower than the Comparison Group, although the difference was grea…
Relationships between the social communication questionnaire and pragmatic language, socialization skills, and behavioral problems in children with a…
2019
The Social Communication Questionnaire (SCQ) is one of the most widely used screening instruments for autism spectrum disorder (ASD). This study examined the relationships between the reciprocal social interaction, communication, and repetitive/stereotyped factors on the Strength and Difficulties Questionnaire (SDQ) and pragmatic, socialization, and behavioral problems in children with ASD and children with typical development (TD). Participants were seven- to 11-year-old children with ASD without intellectual disability (
Autism spectrum disorders in children affected by Duchenne Muscular Dystrophy
2019
Objective Duchenne Muscular Dystrophy (DMD) is a progressive neuromuscular condition that has a high rate of cognitive and learning disabilities as well as neurobehavioral disorders, some of which have ben associated with disruption of dystrophin isoforms. Recent studies have pointed to an increased risk for intellectual disability and autism among affected males.The aim of the present study was to describe a case series of children with DMD that have also the presence of autism spectrum disorders (ASDs). they have been assessed by means of standardized autism scales and the monst appropriate psycho-educational treatment is herein discussed. Methods and Results In order to evaluate and iden…
Executive functioning in autism spectrum disorders: a case-control study in preschool children.
2019
Background: Autism spectrum disorders (ASD) are neurobehavioral and developmental conditions that include impairments in a triad of behavioral domains: social development, communication and repetitive behavior/obsessive interests. This case-control study aims to assess executive functioning in ASD preschoolers. Methods: A sample of 50 children participated in the study (24 males and 26 females; age ranged between 2.7 and 3.5 years). The study sample was subdivided into two groups: 25 ASD children and 25 typically developing children as a control group. All participants were administered the BRIEF-P test to assess executive functioning. Results: The two groups were counterbalanced for age an…
Executive functioning in preschool children affected by autism spectrum disorder: A pilot study
2017
Introduction: Autism spectrum disorders (ASD) are a complex set of neurological dysfunction and development characterized by deficits in social and non-verbal interaction. Few studies have explored the executive functioning in ASD preschoolers. The aim of this pilot study is the assessment of executive functioning in preschool children with ASD. Material and methods: 8 ASD children (7 males, 1 female) mean age 3.09 (SD ± 0.83 years) were enrolled in the study and compared with a control group of 15 typically developing children (12 males, 3 females) (mean age 24.3 ± 0.61). All subjects underwent assessment of executive functioning with the BRIEF-P test. Results: The two groups were matched …
Theory of Mind Profiles in Children With Autism Spectrum Disorder: Adaptive/Social Skills and Pragmatic Competence
2020
Theory of Mind (ToM) is one of the most relevant concepts in the field of social cognition, particularly in the case of Autism Spectrum Disorders (ASD). Literature showing that individuals with ASD display deficits in ToM is extensive and robust. However, some related issues deserve more research: the heterogeneous profile of ToM abilities in children with ASD and the association between different levels of ToM development and social, pragmatic, and adaptive behaviors in everyday life. The first objective of this study was to identify profiles of children with ASD without intellectual disability (ID), based on explicit and applied ToM knowledge, and compare these profiles with a group of ch…
Representation of ASD in mass media: analysis of a generalist newspaper
2020
Los medios de comunicación influyen notablemente en sus consumidores, por lo que no son meros informadores, sino que también son creadores de opinión. Este hecho es relevante para el ámbito de la inclusión, en tanto que las necesidades específicas de apoyo educativo son también un tema tratado por los medios de comunicación. En el presente estudio se analizan los artículos que abordan la temática relacionada con el Trastorno del Espectro Autista (TEA) en el diario El País durante el año 2017. Los resultados del análisis de contenido de los artículos indican que el TEA fue un tema de interés en el año 2017. Los contenidos más recurrentes fueron las causas del TEA, frecuentemente desmintiendo…
Automorphism Groups of Certain Rational Hypersurfaces in Complex Four-Space
2014
The Russell cubic is a smooth contractible affine complex threefold which is not isomorphic to affine three-space. In previous articles, we discussed the structure of the automorphism group of this variety. Here we review some consequences of this structure and generalize some results to other hypersurfaces which arise as deformations of Koras–Russell threefolds.
Quotients of the Dwork Pencil
2012
In this paper we investigate the geometry of the Dwork pencil in any dimension. More specifically, we study the automorphism group G of the generic fiber of the pencil over the complex projective line, and the quotients of it by various subgroups of G. In particular, we compute the Hodge numbers of these quotients via orbifold cohomology.