Search results for "Spectrum disorder"

showing 10 items of 272 documents

ADHD symptoms and learning behaviors in children with ASD without intellectual disability. A mediation analysis of executive functions

2018

In spite of its importance for education, the relationship between learning behaviors (LB), attention deficit hyperactivity disorder symptoms (ADHD) and executive functioning (EF) in children with autism spectrum disorder (ASD) has hardly been explored. The first objective of the present study was to compare children with ASD without intellectual disability and children with typical development (TD) on ADHD symptoms and learning behaviors: Motivation/ competence, attitude toward learning, persistence on the task, and strategy/flexibility. The second objective was to analyze the mediator role of behavioral regulation and metacognition components of EF between ADHD symptoms and learning behav…

MalePervasive Developmental DisordersAutism Spectrum Disorderlcsh:MedicineSocial SciencesFamiliesExecutive Function0302 clinical medicineLearning and MemorySociologyIntellectual disabilityMedicine and Health SciencesPsychologylcsh:ScienceChildChildrenMultidisciplinarySchools05 social sciencesExecutive functionsProfessionsNeurologyAutism spectrum disorderFemalemedicine.symptomPsychology050104 developmental & child psychologyClinical psychologyResearch ArticleMediation (statistics)MetacognitionNeuropsychiatric DisordersImpulsivitybehavioral disciplines and activitiesEducation03 medical and health sciencesHuman LearningMetacognition IndexDevelopmental NeuroscienceIntellectual Disabilitymental disordersMental Health and PsychiatrymedicineAttention deficit hyperactivity disorderLearningHumans0501 psychology and cognitive sciencesBehaviorMotivationlcsh:RCognitive PsychologyBiology and Life SciencesTeachersmedicine.diseaseAge GroupsNeurodevelopmental DisordersAttention Deficit Disorder with HyperactivityPeople and PlacesDevelopmental PsychologyCognitive Sciencelcsh:QPopulation GroupingsAdhd030217 neurology & neurosurgeryNeurosciencePLoS ONE
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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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Comparison of Foveal, Macular, and Peripapillary Intraretinal Thicknesses Between Autism Spectrum Disorder and Neurotypical Subjects

2017

Purpose To compare thicknesses of intraretinal layers segmented by spectral-domain optical coherence tomography (SD-OCT) between autism spectrum disorder (ASD) and neurotypical (NT) individuals. Methods We performed 2 scans on 108 eyes from 54 participants (27 high-functioning ASD and 27 age- and sex-matched NT subjects): macular fast volume and peripapillary retinal nerve fiber layer (pRNFL). Macula was automatically segmented. The mean foveal and macular thickness of nine different layers and the thickness of nine pRNFL sectors were considered. Data from the right and left eyes were averaged for each participant. The results were compared between the ASD and NT groups. Associations betwee…

MaleRetinal Ganglion CellsFovea Centralismedicine.medical_specialtyAdolescentgenetic structuresAutism Spectrum DisorderOptic DiskOptic diskNerve fiber layerYoung Adult03 medical and health sciencesNerve Fibers0302 clinical medicineMacula LuteaFovealOphthalmologymental disordersmedicineHumansMacula LuteaProspective StudiesChildIntelligence TestsRetinabusiness.industryFovea centralismedicine.diseaseeye diseasesCross-Sectional Studiesmedicine.anatomical_structureAutism spectrum disorder030221 ophthalmology & optometryFemalesense organsbusinessTomography Optical Coherence030217 neurology & neurosurgeryNeurotypicalInvestigative Opthalmology & Visual Science
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Fat intake in children with autism spectrum disorder in the Mediterranean region (Valencia, Spain)

2015

Children with autism spectrum disorder (ASD) have been found to have alterations in dietary fat intake and fat quality. The fat intakes of the foods consumed by children with and without ASD were compared, and the deficiency and excess of these nutrients were examined.In a matched case-control study, 3-day food diaries were completed by 105 children with ASD and 495 typically developing (TD) 6- to 9-year-old children in Valencia (Spain). We used the probabilistic approach and estimated average requirement cut-point to evaluate the risk of inadequate nutrients intakes. These were compared between groups and with Spanish recommendations using linear and logistic regression, respectively.Group…

MaleRiskAutism Spectrum DisorderMedicine (miscellaneous)Healthy eatingLogistic regressionNutrition Policy03 medical and health sciences0302 clinical medicineNutrientFat intake030225 pediatricsEnvironmental healthPrevalencemedicineHumansFood scienceChildchemistry.chemical_classificationNutrition and Dieteticsbusiness.industryGeneral NeuroscienceGeneral Medicinemedicine.diseaseDietary FatsDiet RecordsDietCross-Sectional StudiesLogistic ModelschemistrySpainAutism spectrum disorderDietary Reference IntakeCase-Control StudiesLinear ModelsPatient ComplianceAutismFemaleDiet HealthyChild Nutritional Physiological PhenomenaDeficiency Diseasesbusiness030217 neurology & neurosurgeryPolyunsaturated fatty acidNutritional Neuroscience
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TLR4 response mediates ethanol-induced neurodevelopment alterations in a model of fetal alcohol spectrum disorders

2017

Background Inflammation during brain development participates in the pathogenesis of early brain injury and cognitive dysfunctions. Prenatal ethanol exposure affects the developing brain and causes neural impairment, cognitive and behavioral effects, collectively known as fetal alcohol spectrum disorders (FASD). Our previous studies demonstrate that ethanol activates the innate immune response and TLR4 receptor and causes neuroinflammation, brain damage, and cognitive defects in the developmental brain stage of adolescents. We hypothesize that by activating the TLR4 response, maternal alcohol consumption during pregnancy triggers the release of cytokines and chemokines in both the maternal …

MaleSerum0301 basic medicineChemokineDevelopmental Disabilitiesmedicine.medical_treatmentlcsh:RC346-429MiceMyelin0302 clinical medicineNeuroinflammationPregnancyTLR4Maternal BehaviorFetal alcohol spectrum disordersMice KnockoutMicrogliabiologyGeneral NeuroscienceAge FactorsBrainCerebral cortexBehavior impairmentsmedicine.anatomical_structureCytokineNeurologyPrenatal Exposure Delayed EffectsCytokinesFemalemedicine.symptomMyelin ProteinsAmniotic fluidmedicine.medical_specialtyOffspringImmunologyNerve Tissue ProteinsBrain damage03 medical and health sciencesCellular and Molecular NeuroscienceInternal medicineAvoidance LearningmedicineAnimalsMaze Learninglcsh:Neurology. Diseases of the nervous systemNeuroinflammationEthanolbusiness.industryResearchBody WeightCentral Nervous System DepressantsMice Inbred C57BLToll-Like Receptor 4Disease Models AnimalMicroscopy Electron030104 developmental biologyEndocrinologyAnimals NewbornPrenatal ethanol exposureImmunologybiology.proteinTLR4business030217 neurology & neurosurgeryJournal of Neuroinflammation
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

2019

AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a dec…

Male[SDV.GEN] Life Sciences [q-bio]/GeneticsIon channels in the nervous systemCohort Studiesfluids and secretionsLoss of Function MutationReceptorsAMPAAMPA receptorlcsh:ScienceChildreproductive and urinary physiologyAMPA receptor GluA2 neurodevelopmental disorders autism spectrum disorder glutamatergic synaptic transmission GRIA2neurodevelopmental disordersDevelopmental disordersQNeurodevelopmental disordersBrainMagnetic Resonance ImagingSettore MED/26 - NEUROLOGIAGluA2Child PreschoolFemaleAdultHeterozygoteAdolescentScienceautism spectrum disorderArticleYoung Adult[SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/PediatricsMESH: Intellectual Disability/genetics; Neurodevelopmental Disorders/genetics; Receptors AMPA/genetics; HeterozygoteIntellectual Disabilitymental disordersAdolescent; Adult; Brain; Child; Child Preschool; Cohort Studies; Female; Heterozygote; Humans; Infant; Intellectual Disability; Loss of Function Mutation; Magnetic Resonance Imaging; Male; Neurodevelopmental Disorders; Receptors AMPA; Young AdultHumansReceptors AMPAGRIA2PreschoolIon channel in the nervous system Developmental disorders Synaptic development NG sequencing[SDV.GEN]Life Sciences [q-bio]/Genetics[SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatricsglutamatergic synaptic transmission[SCCO.NEUR]Cognitive science/Neuroscience[SCCO.NEUR] Cognitive science/NeuroscienceInfantNG sequencingSynaptic developmentIon channel in the nervous systemNext-generation sequencinglcsh:Q
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Children with autism and attention deficit hyperactivity disorder. Relationships between symptoms and executive function, theory of mind, and behavio…

2018

Abstract Background The underlying mechanisms of comorbidity between autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) are still unknown. Executive function (EF) deficits and theory of mind (ToM) have been the most investigated cognitive processes. Aims This study proposed to analyze EF, ToM and behavioral problems in children with ASD + ADHD, ADHD, ASD and typical development (TD). The relationship between ADHD and ASD symptoms with EF, ToM and behavioral problems in children with ASD + ADHD was also explored. Methods and procedures Participants were 124 children between 7 and 11 years old (22 ASD + ADHD, 35 ADHD, 30 ASD, and 37 TD), matched on age and IQ. …

Malegenetic structuresTheory of Mindbehavioral disciplines and activities03 medical and health sciencesExecutive Function0302 clinical medicineTheory of mindmental disordersDevelopmental and Educational PsychologymedicineAttention deficit hyperactivity disorderHumans0501 psychology and cognitive sciencesAttentionAutistic DisorderChildProblem Behavior05 social sciencesCognitionStrengths and Difficulties QuestionnaireExecutive functionsmedicine.diseaseComorbidityClinical PsychologyAutism spectrum disorderAttention Deficit Disorder with HyperactivitySpainAutismFemalePsychologyMetacognitionBehavior Observation Techniques030217 neurology & neurosurgery050104 developmental & child psychologyClinical psychologyResearch in developmental disabilities
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Psychoeducational intervention to improve oral assessment in people with autism spectrum disorder, BIO-BIO region, Chile.

2018

Background Lichen planus (LP) is a chronic autoimmune disease that affects the oral mucosa as well as the skin, genital mucosa and other sites. Objective: to evaluate the correlation between oral, genital and cutaneous lichen planus, in a sample of LP patients. Material and Methods This descriptive study reviewed 274 clinical histories of patients, who all presented histological confirmation of lichen planus verified by a pathologist, attending research centers in Barcelona. Results A total of 40 LP patients (14.59%) presented genital lesions. Of 131 patients with cutaneous LP (47.8%), the most commonly affected zones were the body’s flexor surfaces, representing 60.1% of cases. 24% of pati…

Malemedicine.medical_specialtyAdolescentAutism Spectrum DisorderDisease03 medical and health sciencesYoung Adult0302 clinical medicinestomatognathic systemPatient Education as TopicmedicineHumans0501 psychology and cognitive sciencesSex organProspective StudiesOral mucosaFamily historyYoung adultChileProspective cohort studyskin and connective tissue diseasesChildGeneral DentistryDepression (differential diagnoses)integumentary systembusiness.industryDiagnosis OralResearch05 social sciences030206 dentistry:CIENCIAS MÉDICAS [UNESCO]medicine.diseaseMedically compromised patients in DentistryDermatologystomatognathic diseasesmedicine.anatomical_structureOtorhinolaryngologyChild PreschoolUNESCO::CIENCIAS MÉDICASSurgeryOral lichen planusFemalebusiness050104 developmental & child psychologyMedicina oral, patologia oral y cirugia bucal
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Sleep in children with autistic spectrum disorder: a questionnaire and polysomnographic study.

2007

Abstract Objective To evaluate sleep in children with autistic spectrum disorder (ASD) by means of sleep questionnaires and polysomnography; moreover, to analyze their cyclic alternating pattern (CAP). Methods Thirty-one patients with ASD (28 males, 3 females, aged 3.7–19 years) and age-matched normal controls were included. ASD children were evaluated by a standard sleep questionnaire that consisted of 45 items in a Likert-type scale covering several areas of sleep disorders and by overnight polysomnography in the sleep laboratory after one adaptation night. Results The questionnaire results showed that parents of ASD children reported a high prevalence of disorders of initiating and maint…

Malemedicine.medical_specialtyAdolescentcyclic alternating patternPolysomnographySleep REMPolysomnographyComorbidityAudiologyNon-rapid eye movement sleepactigraphy polysomnographyEnuresisSleep Disorders Circadian RhythmSurveys and Questionnairesmental disordersActivities of Daily LivingmedicineHumansAutistic DisorderParent-Child RelationsChildSleep disorderSleep StagesSleep stagemedicine.diagnostic_testautistic spectrum disorderActigraphyGeneral Medicinemedicine.diseaseComorbiditySleep in non-human animalsSettore MED/39 - Neuropsichiatria Infantilesleep questionnaireactigraphy; actigraphy polysomnography; autistic spectrum disorder; cyclic alternating pattern; polysomnography; sleep questionnaire; sleep stagesLogistic ModelsChild PreschoolPhysical therapyFemaleSleep Stagesmedicine.symptomPsychologyactigraphySleep medicine
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Minor physical anomalies in children with autism spectrum disorder.

2007

Abstract Aim To investigate the rate and topological profile of minor physical anomalies (MPAs) (prenatal errors of morphogenesis) in a group of children with Autism Spectrum Disorder (ASD), in order to better set a temporal framing of embryological factors involved in the neurodevelopmental etiology. Method A new modified Waldrop scale and a mixed approach of computerized photogrammetry and classic anthroposcopy was used to detect the presence or absence of 41 MPAs in 24 children (mean age: 7 years; sex ratio: 22M:2F) with ASD and 24 healthy comparison subjects (mean age: 7 years; sex ratio: 19M:5F) selected with DSM IV and CARS. Results We found that children with ASD presenting MPAs (n =…

Malemedicine.medical_specialtyAudiologyCongenital AbnormalitiesPregnancymental disordersmedicineHumansMinor physical anomaliesAutistic DisorderPsychiatryChildPregnancyAutism spectrum disorder Minor physical anomalies NeurodevelopmentCephalic indexfungiObstetrics and Gynecologymedicine.diseaseSettore MED/39 - Neuropsichiatria InfantileDevelopmental disorderEl NiñoAutism spectrum disorderPediatrics Perinatology and Child HealthEtiologyAutismFemalePsychology
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