Search results for " ASD"

showing 5 items of 5 documents

Metabolomics Study of Urine in Autism Spectrum Disorders Using a Multiplatform Analytical Methodology

2015

International audience; Autism spectrum disorder (ASD) is a neurodevelopmental disorder with no clinical biomarker. The aims of this study were to characterize a metabolic signature of ASD and to evaluate multiplatform analytical methodologies in order to develop predictive tools for diagnosis and disease follow-up. Urine samples were analyzed using (1)H and (1)H-(13)C NMR-based approaches and LC-HRMS-based approaches (ESI+ and ESI- on HILIC and C18 chromatography columns). Data tables obtained from the six analytical modalities on a training set of 46 urine samples (22 autistic children and 24 controls) were processed by multivariate analysis (orthogonal partial least-squares discriminant …

MaleMagnetic Resonance SpectroscopyMultivariate analysisAutism Spectrum DisorderBiochemistrychemistry.chemical_compoundNeurodevelopmental disorderMedicineChildComputingMilieux_MISCELLANEOUSChromatographyLiquideducation.field_of_studyElectrospray IonizationSettore MED/39 - Neuropsichiatria InfantilePhenylacetylglutamineAutism spectrum disorderChild PreschoolMetabolomeAmino acidsFemale[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Metabolic Networks and PathwaysSpectrometry Mass Electrospray IonizationAdolescentPopulationComputational biologyHumansMetabolomicsPreschooleducationmétabolomeChromatographyReceiver operating characteristicSpectrometrybusiness.industrymetabolomics autism spectrum disorder ASD NMR LC−HRMS data fusionGeneral ChemistryMassmedicine.diseaseLinear discriminant analysischemistryCase-Control StudiesMultivariate AnalysisAutismbusinessBiomarkers[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyChromatography LiquidJournal of Proteome Research
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Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abn…

2021

Fragile X syndrome (FXS; MIM 300624) is an X-linked genetic disorder characterized by physical abnormalities associated with intellectual disability and a wide spectrum of neurological and psychiatric impairments. FXS occurs more frequently in males, 1 in 5000 males and 1 in 8000 females accounting for 1-2% of overall intellectual disability (ID). In more than 99% of patients, FXS results from expansions of a CGG triplet repeat (>200 in male) of the FMR1 gene. In the last years an increasing number, albeit still limited, of FXS subjects carrying FMR1 mutations including deletions, splicing errors, missense, and nonsense variants was reported. Nevertheless, the studies concerning the func…

MaleNuclear Export SignalsSettore M-PSI/02 - Psicobiologia E Psicologia FisiologicaAutism Spectrum DisorderMutation MissenseGeneral MedicineFMR1 point mutationSettore MED/39 - Neuropsichiatria InfantileFragile X Mental Retardation ProteinPhenotypeSettore MED/38 - Pediatria Generale E SpecialisticaIntellectual DisabilityAutism spectrum disorders ASDSettore M-PSI/08 - Psicologia ClinicaGeneticsHumansIntellectual disability IDFemaleNuclear export signal NES.Genetics (clinical)Fragile X syndrome
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Evolution of nitrogen concentration and ammonia production in N 2 -seeded H-mode discharges at ASDEX Upgrade

2019

Ammonia formation was studied in a series of dedicated nitrogen seeded H-mode discharges at ASDEX Upgrade. The evolution of ammonia formation was investigated with a reference phase before the seeding, and a long, stable flat-top nitrogen-seeded phase. It was monitored with divertor spectroscopy and analysis of the exhaust gas. The amount of the detected ammonia increased continuously over the course of five discharges with the same nitrogen seeding rate. The same trend was observed in the nitrogen density in the core plasma, as measured by charge exchange recombination spectroscopy and other signals, linked to the effects of nitrogen seeding. The results show that the rate of ammonia forma…

Nuclear and High Energy Physicsammonia; ASDEX Upgrade; mass spectrometry; nitrogen seeding; plasma-surface interaction; residual gas analysisnitrogen seedingDivertorresidual gas analysisAnalytical chemistryExhaust gaschemistry.chemical_elementCondensed Matter Physicsammonia01 natural sciencesNitrogen010305 fluids & plasmasAmmonia productionAmmoniachemistry.chemical_compoundchemistryASDEX Upgrade0103 physical sciencesSeedingASDEX Upgradeplasma-surface interaction010306 general physicsSpectroscopymass spectrometryNuclear Fusion
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Joint Attention and Its Relationship with Autism Risk Markers at 18 Months of Age

2022

(1) Joint attention is the ability to coordinate attention to share a point of reference with another person. It has an early onset and is a clear indicator of understanding the representations of others, and it is essential in the development of symbolic thought and the acquisition of language. Deficiencies in this prelinguistic early communication skill are strong markers of the risk of autism spectrum disorder (ASD); (2) this longitudinal study aimed to evaluate joint attention skills in a group of 32 infants at two developmental moments (8 and 12 months) in order to explore whether their performance on this skill was related to the presence of early signs of ASD at 18 months. Logistic m…

PsicologiaPediatrics Perinatology and Child Healthmental disordersjoint attention; ASD; early symptomatology; ASD riskAutismebehavioral disciplines and activitiesChildren; Volume 9; Issue 4; Pages: 556
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Poznawczo-behawioralne programy terapeutyczne wykorzystywane w pracy z wymagającymi wsparcia adolescentami z zaburzeniami ze spektrum autyzmu (ASD L1…

2020

Artykuł zawiera opis wybranych metod poznawczo-behawioralnych wykorzystywanych w pracy z wymagającą wsparcia młodzieżą z zaburzeniami ze spektrum autyzmu (ASD L1). We wstępie opisano pokrótce historię zaburzenia i podstawowe problemy występujące u dzieci i młodzieży ze spektrum zaburzeń autystycznych. W dalszej części przytoczono informacje na temat technik poznawczo-behawioralnych często stosowanych w pracy z tymi adolescentami. Omówiono przykładowe programy treningów umiejętności społecznych: PEERS (Program for the Education and Enrichment of Relationship Skills) oraz MASSI (Multimodal Anxiety and Social Skills Intervention). Przybliżono dwa programy wykorzystywane w pracy nad rozwijaniem…

młodzieżwork techniquespsychoterapia poznawczo-behawioralnatechniki pracyzaburzenia ze spektrum autyzmuL1 ASDcognitive-behavioural psychotherapyadolescentsautistic spectrum disordersASD L1Psychiatria i Psychologia Kliniczna
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