Search results for " pervasive"

showing 10 items of 39 documents

Are There Anthropometric Differences Between Autistic and Healthy Children?

2012

Anthropometric development and growth were assessed in 2 groups of 6- to 9-year-olds: children with autism spectrum disorders and typically developing children. In a case-control study conducted in Valencia, Spain, we compared the body mass index (kg/m2) of 40 children with autism spectrum disorders (cases) and 113 typically developing children (controls) from the same area of residence. The sex- and age-adjusted odds ratios for being underweight in cases was 2.41 compared to controls. Furthermore, the body mass index distribution of the cases was significantly offset to lower values with respect to that of the controls ( P = .024). In particular, 20% of the cases had a body mass index bel…

MalePediatricsmedicine.medical_specialtyFifth percentileBody Mass IndexChild DevelopmentmedicineHumansArea of residenceChildRoutine careAnthropometrybusiness.industryOdds ratioAnthropometrymedicine.diseaseChild Development Disorders PervasiveSpainCase-Control StudiesPediatrics Perinatology and Child HealthAutismFemaleNeurology (clinical)Underweightmedicine.symptombusinessHeadBody mass indexJournal of Child Neurology
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Disruption of the ASTN2 / TRIM32 locus at 9q33.1 is a risk factor in males for Autism Spectrum Disorders, ADHD and other neurodevelopmental phenotypes

2014

Rare copy number variants (CNVs) disrupting ASTN2 or both ASTN2 and TRIM32 have been reported at 9q33.1 by genome-wide studies in a few individuals with neurodevelopmental disorders (NDDs). The vertebrate-specific astrotactins, ASTN2 and its paralog ASTN1, have key roles in glial-guided neuronal migration during brain development. To determine the prevalence of astrotactin mutations and delineate their associated phenotypic spectrum, we screened ASTN2/TRIM32 and ASTN1 (1q25.2) for exonic CNVs in clinical microarray data from 89 985 individuals across 10 sites, including 64 114 NDD subjects. In this clinical dataset, we identified 46 deletions and 12 duplications affecting ASTN2. Deletions o…

MaleReceptors Cell Surface/geneticsAutismChild Development Disorders Pervasive/geneticsGene ExpressionGenome-wide association studyMedical and Health SciencesTripartite Motif ProteinsRisk FactorsReceptors2.1 Biological and endogenous factorsProtein IsoformsNerve Tissue Proteins/geneticsCopy-number variationAetiologyChildGenetics (clinical)Sequence DeletionPediatricGenetics & HeredityGeneticseducation.field_of_studySingle NucleotideArticlesGeneral MedicineExonsBiological SciencesMental HealthPhenotypeAutism spectrum disorderOrgan SpecificityCerebellar cortexChild PreschoolCell SurfaceSpeech delayFemalemedicine.symptomTranscription Initiation SiteAttention Deficit Disorder with Hyperactivity/geneticsChromosomes Human Pair 9HumanPair 9AdultPediatric Research InitiativeChild Development DisordersAdolescentDNA Copy Number VariationsIntellectual and Developmental Disabilities (IDD)Ubiquitin-Protein LigasesPopulationTranscription Factors/geneticsNerve Tissue ProteinsReceptors Cell SurfaceBiologyPolymorphism Single NucleotideChromosomesYoung AdultClinical ResearchProtein Isoforms/geneticsBehavioral and Social ScienceGeneticsmedicineAttention deficit hyperactivity disorderHumansGenetic Predisposition to DiseasePolymorphismPreschooleducationMolecular BiologyGenetic Association StudiesPervasiveGlycoproteinsHuman GenomeNeurosciencesInfant NewbornGlycoproteins/geneticsInfantNewbornmedicine.diseaseBrain DisordersAttention Deficit Disorder with HyperactivityChild Development Disorders PervasiveCase-Control StudiesAutismTranscription Factors
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Autism and Intellectual Disability Associated with Mitochondrial Disease and Hyperlactacidemia

2015

Autism spectrum disorder (ASD) with intellectual disability (ID) is a life-long debilitating condition, which is characterized by cognitive function impairment and other neurological signs. Children with ASD-ID typically attain motor skills with a significant delay. A sub-group of ASD-IDs has been linked to hyperlactacidemia and alterations in mitochondrial respiratory chain activity. The objective of this report is to describe the clinical features of patients with these comorbidities in order to shed light on difficult diagnostic and therapeutic approaches in such patients. We reported the different clinical features of children with ID associated with hyperlactacidemia and deficiencies i…

Malemedicine.medical_specialtyPediatricsMitochondrial DiseasesUbiquinoneMitochondrial diseaseautismArticleCatalysislcsh:ChemistryInorganic Chemistrychemistry.chemical_compoundFolic AcidCarnitinemental disordersIntellectual disabilitymedicineHumansHyperlactatemiaCarnitinePhysical and Theoretical Chemistrypossible mitochondrial diseasePsychiatrylcsh:QH301-705.5Molecular BiologySpectroscopyCoenzyme Q10business.industryOrganic ChemistryInfantCognitionVitaminsGeneral Medicinemedicine.diseaseComputer Science ApplicationsMitochondrial respiratory chainlcsh:Biology (General)lcsh:QD1-999chemistryintellectual disabilityChild Development Disorders PervasiveAutism spectrum disorderChild Preschoolmuscular toneAutismFemalebusinessmedicine.drugInternational Journal of Molecular Sciences
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Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

2013

AM Vicente - Cross-Disorder Group of the Psychiatric Genomics Consortium Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cases and controls in schizophrenia, bipolar disorder, major depressive disorder, autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). We apply univariate and bivariate methods for the estimation of genetic variation within and covariation between disorders. SNPs explained 17-29% of the variance in …

Netherlands Twin Register (NTR)MedizinInheritance PatternsSocial SciencesAUTISM SPECTRUM DISORDERSnosologyheritabilityCOMMON SNPS0302 clinical medicineCrohn DiseaseSCHIZOPHRENIAChildPsychiatric geneticsGenetics & HeredityMAJOR DEPRESSIVE DISORDERRISK0303 health sciencesATTENTION-DEFICIT/HYPERACTIVITY DISORDER120 000 Neuronal CoherenceMental DisordersVariantsBIPOLAR DISORDERASSOCIATIONGenomic disorders and inherited multi-system disorders [DCN PAC - Perception action and control IGMD 3]Psychiatric DisordersCROHNS-DISEASE3. Good healthSchizophreniagenetic association studyMedical geneticsMajor depressive disorderSNPsAdultmedicine.medical_specialtygenetic etiologymedical geneticsDEFICIT HYPERACTIVITY DISORDERBiologyPolymorphism Single Nucleotidebehavioral disciplines and activitiesArticleGenomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3]HeritabilityGenetic Heterogeneity03 medical and health sciencesPrevalence of mental disordersmental disorders/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_[SDV.BBM] Life Sciences [q-bio]/Biochemistry Molecular BiologyGeneticsmedicineddc:61HumansAttention deficit hyperactivity disorderGenetic Predisposition to Disease[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular BiologyDCN PAC - Perception action and control NCEBP 9 - Mental healthddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersBipolar disorderPsychiatry030304 developmental biologyDepressive Disorder MajorGenome HumanGenetic heterogeneitymedicine.diseaseschizophreniaAttention Deficit Disorder with HyperactivityChild Development Disorders PervasivePerturbações do Desenvolvimento Infantil e Saúde Mental030217 neurology & neurosurgeryGenome-Wide Association Study
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Viaggi nell’immaginario: il turismo virtuale nel sito UNESCO di Tarragona

2023

Le nuove tecnologie hanno trasformato in modo radicale non solo la geografia come disciplina, ma anche le geografie del mondo. Il digitale ha assunto, infatti, un ruolo di mediazione sempre più pervasivo nella produzione dello spazio, come delle conoscenze e degli immaginari geografici. Le possibilità offerte dal virtuale, in particolare, offrono oggi un contributo decisivo nella comunicazione dei significati attribuiti ai luoghi e rispondono in modo sempre più efficace ai bisogni emergenti del settore turistico. Le esperienze di visita mediate dal digitale mirano a coinvolgere i sensi e risultano efficaci quando promuovono immersioni rigorosamente realistiche. Nel quadro di queste riflessi…

New technologies have radically transformed not only geography as a discipline but also the geographies of the world. Indeed the digital has assumed an increasingly pervasive mediating role in the production of space as of geographic knowledge and imaginaries. The possibilities offered by the virtual in particular now offer a decisive contribution in communicating the meanings attributed to places and respond increasingly effectively to the emerging needs of the tourism sector. Digitally mediated visitor experiences aim to engage the senses and are effective when they promote rigorously realistic immersions. Within the framework of these reflections the paper highlights the renewed relevance of authenticity both of the tourism experience and of cultural heritage in relation to its potential for attraction and proposes a contextualization of the theme in light of the unprecedented opportunities granted by technologies for the creation of virtual and augmented spaces. The proposed discussion is therefore also a journey aimed at exploring authenticity as a tool through which new technologies can effectively mediate a sense of place and foster brand communication of a destination. The case study is the UNESCO site of Tarragona whose most relevant image for urban policies is presented. This shared figuration spatially defined and rooted in a precise historical moment is reconstructed on the one hand through the analysis of functional documentation for the candidacy and on the other by means of a review of mobile applications developed for the promotion of the city's cultural heritage. The proposed journey and exploration of the place return in light of the research data and in conclusion the central role played by digital technologies in mediating the UNESCO imaginary. The forms of virtual tourism in Tarragona confirm that to travel is to experience a text enveloped in time and inscribed in space.Settore M-GGR/01 - Geografia
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Urinaryp-cresol is elevated in young French children with autism spectrum disorder: a replication study

2014

The aromatic compound p-cresol (4-methylphenol) has been found elevated in the urines of Italian autistic children up to 8 years of age. The present study aims at replicating these initial findings in an ethnically distinct sample and at extending them by measuring also the three components of urinary p-cresol, namely p-cresylsulfate, p-cresylglucuronate and free p-cresol. Total urinary p-cresol, p-cresylsulfate and p-cresylglucuronate were significantly elevated in 33 French autism spectrum disorder (ASD) cases compared with 33 sex- and age-matched controls (p < 0.05). This increase was limited to ASD children aged ≤8 years (p < 0.01), and not older (p = 0.17). Urinary levels of p-cresol a…

Pervasive developmental disordersMalePathologyHealth Toxicology and MutagenesisClinical BiochemistryBiochemistryClinical biochemistryCresolsorganic contaminants; neurotoxicity; Gut flora; pervasive developmental disorders; p-cresylsulfateUrinary levelsneurotoxicityChildSettore BIO/12P-cresylsulfateSettore MED/39 - Neuropsichiatria InfantileGut flora neurotoxicity organic contaminants p-cresylsulfate pervasive developmental disordersHealthAutism spectrum disorderChild Preschoolp-cresylsulfateBiomarker (medicine)FemaleFrancemedicine.medical_specialtyChild Development DisordersAdolescentUrinary systemGlucuronatesSulfuric Acid EstersOrganic contaminantsGut flora; Neurotoxicity; Organic contaminants; p-cresylsulfate; Pervasive developmental disorders; Adolescent; Case-Control Studies; Child; Child Development Disorders; Pervasive; Child; Preschool; Cresols; Female; France; Glucuronates; Humans; Male; Sulfuric Acid Esters; Biochemistry; Clinical Biochemistry; Health; Toxicology and MutagenesisInternal medicineparasitic diseasesNeurotoxicitymedicineHumansToxicology and MutagenesisPreschoolSettore BIO/10 - BIOCHIMICAPervasiveGut florabusiness.industryCase-control studypervasive developmental disordersmedicine.diseaseChild Development Disorders PervasiveCase-Control StudiesAutismorganic contaminantsGut flora; Neurotoxicity; Organic contaminants; p-cresylsulfate; Pervasive developmental disorders; Adolescent; Case-Control Studies; Child; Child Development Disorders Pervasive; Child Preschool; Cresols; Female; France; Glucuronates; Humans; Male; Sulfuric Acid Esters; Biochemistry; Clinical Biochemistry; Health Toxicology and MutagenesisbusinessBiomarkers
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Child–display interaction:Lessons learned on touchless avatar-based large display interfaces

2020

AbstractDuring the last decade, touchless gestural interfaces have been widely studied as one of the most promising interaction paradigms in the context of pervasive displays. In particular, avatars and silhouettes have proved to be effective in making the touchless capacity of displays self-evident. In this paper, we focus on a child–display interaction approach to avatar-based touchless gestural interfaces. We believe that large displays offer an opportunity to stimulate children’s experiences and engagement; for instance, learning about art is very engaging for children but can bring a number of challenges. Our study aims to contribute to the literature on both pervasive displays and chi…

Pervasive displayAvatarsUbiquitous computingUbiquitous computingComputer scienceInterface (computing)Mobile computingContext (language use)02 engineering and technologyManagement Science and Operations ResearchLibrary and Information SciencesChild–computer interaction; Gesture-based interfaces; Avatars; Pervasive displays; Ubiquitous computingPervasive displaysHuman–computer interaction0202 electrical engineering electronic engineering information engineeringGesture-based interface0501 psychology and cognitive sciencesAffordance050107 human factorsAvatarSettore ING-INF/05 - Sistemi Di Elaborazione Delle InformazioniFocus (computing)RecallChild–computer interaction05 social sciencesComputingMilieux_PERSONALCOMPUTING020207 software engineeringAvatarComputer Science ApplicationsGesture-based interfacesHardware and Architecture
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Food selectivity in autism spectrum disorders: a systematic review.

2013

Autism spectrum disorders are characterized by difficulties with reciprocal social interactions and restricted patterns of behavior and interest; one of these characteristic behaviors is food selectivity. The objective of this study was to perform a systematic review of the literature published between 1970 and 2013 concerning this eating behavior. The articles identified were analyzed in terms of sample size, study design, and criteria for assessment and intervention, as well as the results, level of evidence and grade of recommendation. The main search was conducted in Medline, Cochrane Library, Scielo, ScienceDirect, and Embase). There is empirical evidence and an overall scientific con…

Selective eatingMEDLINEEvidence-based medicineFeeding BehaviorFeeding assessmentCochrane Librarymedicine.diseaseMealtime problemsDevelopmental psychologySystematic reviewAutism spectrum disorderSample size determinationChild Development Disorders PervasiveIntervention (counseling)Pediatrics Perinatology and Child HealthmedicineAutismHumansNeurology (clinical)Autism spectrum disorderPsychologyChildNutritionJournal of child neurology
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A Multimodal Guide for the Augmented Campus

2007

The use of Personal Digital Assistants (PDAs) with ad-hoc built-in information retrieval and auto-localization functionalities can help people navigating an environment in a more natural manner compared to traditional audio/visual pre-recorded guides. In this work we propose and discuss a user-friendly, multi-modal guide system for pervasive context-aware service provision within augmented environments. The proposed system is adaptable to the user needs of mobility within a given environment; it is usable on different mobile devices and in particular on PDAs, which are used as advanced adaptive HEI (human-environment interaction) interfaces. An information retrieval service is provided that…

Service (systems architecture)Multimodal guides pervasive services mobile devices human environment interfacesMultimediaComputer scienceCommonsense reasoningUSablecomputer.software_genreChatbotBasic skillsHuman–computer interactionNatural (music)computerMobile deviceSpoken language
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Child-display interaction: Exploring avatar-based touchless gestural interfaces

2019

During the last decade, touchless gestural interfaces have been widely studied as one of the most promising interaction paradigms in the context of pervasive displays. In particular, avatars and silhouettes have been proved to be effective in communicating the touchless gestural interactivity supported by displays. In the paper, we take a child-display interaction perspective by exploring avatar-based touchless gestural interfaces. We believe that large displays offer an opportunity to stimulate child experience and engagement, for instance when learning about art, as well as bringing a number of challenges. The purpose of this study is twofold: 1) identifying the relevant aspects of childr…

Settore ING-INF/05 - Sistemi Di Elaborazione Delle InformazioniAvatar; Children-computer interaction; Gesture-based interfaces; Pervasive displays; Ubiquitous computingUbiquitous computingSettore INF/01 - InformaticaUbiquitous computingEvent (computing)Computer scienceInterface (computing)05 social sciencesPerspective (graphical)Children-computer interaction020207 software engineeringContext (language use)02 engineering and technologyAvatarInteractivityPervasive displayschildren-computer interaction gesture-based interfaces avatar pervasive displays ubiquitous computingGesture-based interfacesHuman–computer interaction0202 electrical engineering electronic engineering information engineering0501 psychology and cognitive sciences050107 human factorsAvatar
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