Search results for "Autism"

showing 10 items of 457 documents

Intronic Variant in CNTNAP2 Gene in a Boy With Remarkable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures

2020

Introduction: Mutations in the contactin-associated protein-like 2 (CNTNAP2) gene (MIM#604569) encoding for CASPR2, a cell adhesion protein of the neurexin family, are known to be associated with autism, intellectual disability, and other neuropsychiatric disorders. A set of intronic deletions of CNTNAP2 gene has also been suggested to have a causative role in individuals with a wide phenotypic spectrum, including Pitt-Hopkins syndrome, cortical dysplasia–focal epilepsy syndrome, Tourette syndrome, language dysfunction, and abnormal behavioral manifestations. Case presentation: A 10-years-old boy was referred to the hospital with mild intellectual disability and language impairment. Moreove…

CNTNAP2conduct disorder (CD)030204 cardiovascular system & hematologyBioinformaticsPediatricsTourette syndrome03 medical and health sciencesEpilepsy0302 clinical medicine030225 pediatricsIntellectual disabilitymedicineCopy-number variationintellectual disability (ID)CNTNAP2geneintronic copy number variantbusiness.industrylcsh:RJ1-570lcsh:PediatricsBrief Research Reportmedicine.diseaseConduct disorderPediatrics Perinatology and Child HealthEpilepsy syndromesCNTNAP2 geneAutismepilepsybusiness
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Calidad de vida : evaluación y trastornos del espectro del autismo

2013

espanolEn este articulo se muestran las conclusiones de la investigacion "senda hacia la participacion", desarrollada por la Asociacion Autismo Burgos, analizando los resultados de la aplicacion de cuatro instrumentos para evaluar la calidad de vida en una muestra de veinticuatro personas con Trastorno del Espectro del Autismo (tea). Los resultados obtenidos reflejan las dificultades de estos instrumentos para medir la calidad de vida de las personas con tea, limitaciones que nos llevan a construir una guia de indicadores de calidad de vida, en colaboracion con los padres de la Asociacion. La guia se realizo a traves de un grupo focal del que participaron trece padres, dirigido por dos prof…

Calidad de vidaTestsGeneral MedicineautismoevaluaciónDiscapacidad intelectuallcsh:Education (General)bienestarcalidad de vida; trastornos del espectro del autismo; trastorno autístico; evaluación de la discapacidad; participación comunitaria; relaciones profesional-familiaconducta socialTrastornos del espectro autistaDiscapacidad del lenguajeAutismeEfectosMediciónlcsh:L7-991
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Low Carbohydrate Diet (SCD/GAPS) for Children with Autistic Spectrum Disorder

2019

Objective of the study was to investigate the potential of low carbohydrate diet (SCD/ and supplements in reducing some autistic spectrum disorder ASD symptoms in children.

Casein Free dietgenetic structuresGluten Free dietmental disordersLow carbohydrate dietChildren with autism spectrum disorderAutism spectrum disorder (ASD):MEDICINE::Social medicine [Research Subject Categories]
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Bērnu autisma pazīmju saistība ar māšu audzināšanas uzvedību un māšu stresu

2018

Mērķis: noskaidrot bērnu autisma iezīmju saistību ar vecāku audzināšanau un vecāku stresa indeksu. Dalībnieki: 98 mātes, kurām ir bērni vecumā no 5-11 gadiem (M=8,26, ST=1,91). Piedalījās mātes, kurām ir bērni ar autisma pazīmēm vai diagnozēm, un mātes, kurām bērni ir bez autisma traucējuma. Kopumā piedalījās 39 mātes, kuras audzina meitenes (40 %) un 59 mātēs, kuras audzina zēnus (60%). Instrumentārijs: Programmas Izglītošanās ar autismu Latvijas skolās pētījuma ietvaros izveidotā aptauja – Pazīmes, Ģentes audzināšanas skala, Vecāku stresa indekss. Rezultāti: Bērnu autisma iezīmes negatīvi korelē ar māšu pozitīvo audzināšanu, noteikumiem un autonomiju. Bērnu autisma pazīmes negatīvi korelē…

Children signs of autismvecāku stressaudzināšanas uzvedībabērnu autisma pazīmesparenting behaviourPsiholoģija
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Assessing the impact of copy number variants on miRNA genes in autism by Monte Carlo simulation.

2014

Autism Spectrum Disorders (ASDs) are childhood neurodevelopmental disorders with complex genetic origins. Previous studies have investigated the role of de novo Copy Number Variants (CNVs) and microRNAs as important but distinct etiological factors in ASD. We developed a novel computational procedure to assess the potential pathogenic role of microRNA genes overlapping de novo CNVs in ASD patients. Here we show that for chromosomes # 1, 2 and 22 the actual number of miRNA loci affected by de novo CNVs in patients was found significantly higher than that estimated by Monte Carlo simulation of random CNV events. Out of 24 miRNA genes over-represented in CNVs from these three chromosomes only …

Clinical PathologyDNA Copy Number Variationsendocrine system diseasesChromosomes Human Pair 22ScienceGene regulatory networkGenomicsDevelopmental and Pediatric NeurologyBiologyPathology and Laboratory MedicinePediatricsGenomeMolecular GeneticsmiRNA Genes Monte Carlo Simulation AutismDiagnostic Medicinemental disordersGeneticsMedicine and Health SciencesmedicineHumansComputer SimulationGene Regulatory NetworksCopy-number variationAutistic DisorderGeneGeneticsMultidisciplinaryGenome HumanQRBiology and Life SciencesComputational BiologyGenomicsGenome Analysismedicine.diseaseSettore FIS/07 - Fisica Applicata(Beni Culturali Ambientali Biol.e Medicin)MicroRNAsNeurologyChromosomes Human Pair 1Genetic LociAutism spectrum disorderChromosomes Human Pair 2AutismMedicineStructural GenomicsHuman genomeMonte Carlo MethodResearch ArticlePLoS ONE
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Trends in Autism Spectrum-Related Motherhood Research: A Bibliometric Study

2023

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by difficulties in socialization. The amount of scientific research results on motherhood related to ASD has grown exponentially; however, there are no bibliometric studies in this field. Objective: This article aimed to analyze scientific research on motherhood related to the autism spectrum published in WoS. Articles on motherhood related to ASD were retrieved from the Web of Science (WoS). The advanced search interface used was “Title of the article, Abstract, Keywords”. The analysis and visualization of the selected documents and their data were performed using a wide range of tools and software such as MS Ex…

Clinical PsychologyMedicina InvestigacióInfants CriançaDevelopmental and Educational PsychologyAutismeSalut mentalApplied Psychology
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Analysis of Spanish Parents' Knowledge about ASD and Their Attitudes towards Inclusive Education.

2022

To make possible the inclusion of children with autism spectrum disorder (ASD) in mainstream settings, parental knowledge and attitudes towards the disorder play a key role between the home and the school setting. However, prior literature has not carried out an in-depth analysis of parents’ knowledge about ASD and their attitudes toward the inclusion of children with this diagnosis. This study examined the parental attitudes towards inclusion and knowledge about ASD. Participants were parents of children with ASD (n = 75), parents of children without ASD whose children had prior or current contact with peers with ASD (n = 44), and parents of children with no previous interactions with a pe…

Clinical PsychologyTrastorns de l'aprenentatgeDevelopmental and Educational PsychologyComunicació en la famíliaTrastorns de l'atencióTrastorns de la conducta en els infantsAsperger’s; attitudes; autism; family; inclusion; knowledgeApplied PsychologyFamília i escolaEuropean journal of investigation in health, psychology and education
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Parental Stress and ASD

2016

The objectives of this study were (a) to evaluate parental stress in parents of children with autism spectrum disorders (ASD group) and compare it with the stress in parents of children with typical development (comparison group); (b) to study the relationship between parental stress, autism severity, and both verbal and performance IQ; and (c) to study the relationship between parental stress and resilience. Parental stress in the ASD group was clinically significant and higher than in the comparison group. The child’s autism severity was a significant predictor of parental stress related to the child’s distractibility and hyperactivity. The child’s verbal IQ was a significant predictor o…

Cognitive Neurosciencemedia_common.quotation_subjectbehavioral disciplines and activitiesAttention spanDevelopmental psychology03 medical and health sciences0302 clinical medicinemental disordersmedicine0501 psychology and cognitive sciencesStatistical analysismedia_commonIntelligence quotientChild rearing05 social sciencesSymptom severitymedicine.diseasePsychiatry and Mental healthNeurologyPediatrics Perinatology and Child HealthAutismNeurology (clinical)Parental stressPsychological resiliencePsychology030217 neurology & neurosurgery050104 developmental & child psychologyFocus on Autism and Other Developmental Disabilities
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MINIMALIST THEORY OF FICTION AND THE ICTHINKING® METHOD AS A BACKGROUND FOR NEW INSIGHTS TO AUTISM

2021

The standard approach to conceptual understanding in the case of autism uses the distinction of abstract versus concrete thinking. This approach has its benefits but fails to explain all features of language use. For example, some concepts change their meaning in different contexts in contrast to concepts that are more rigid in their uses, such as mathematical concepts. This idea has its background in Minimalist theory of fiction (MTF), a theory that considers ‘skills to use words’ essential for understanding fiction, contrasting with theories that require pretending or make believe to understand fiction. From this background, the theory of Integrative Complexity (IC), and the method animat…

Cognitive scienceEducational methodintegrative complexityfiktioIntegrative complexityPsychological interventionautismfictionMetacognitionContrast (statistics)merkitykset (semantiikka)medicine.diseasekäsitteetmetakognitiokielellinen kehitysautismimedicineAutismmentalisaatiokielipelitMeaning (existential)kognitiivinen kehitysPsychologymetacognitionmake.believeEuropean Journal of Special Education Research
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Assessing Virtual Reality as a Tool for Support Imagination

2002

One of the major developments of the second year of human life is the emergence of the ability to pretend (Leslie, 1987). Many children with autism use no pretend play or are impoverished in the quality of their play (Baron-Cohen, 1989). The key factor of our Virtual Reality Software in relation to Pretend Play is the possibility to really show the object transformations we propose when pretending. We hope those technics to drive people with autism to a better understanding of pretense and to enable them to develop a play with more quality.

Cognitive scienceImaginationComputer scienceHuman lifemedia_common.quotation_subjectmedicineAutismQuality (business)Virtual realityRelation (history of concept)medicine.diseaseObject (philosophy)media_common
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