2021
Parenting Stress and its Associated Components Prior to an Autism Spectrum Disorder (ASD) Diagnostic Evaluation
Voliovitch Y, Leventhal JM, Fenick AM, Gupta AR, Feinberg E, Hickey EJ, Shabanova V, Weitzman C. Parenting Stress and its Associated Components Prior to an Autism Spectrum Disorder (ASD) Diagnostic Evaluation. Journal Of Autism And Developmental Disorders 2021, 51: 3432-3442. PMID: 33387245, DOI: 10.1007/s10803-020-04804-w.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderASD symptom severityParents of childrenChild ASD symptom severityActive-avoidance copingLow-SES parentsAvoidance copingAdaptive functioningParenting stressSpectrum disorderChild factorsParental worrySocial supportSymptom severityRisk of ASDParentsS parentChildrenMultiple regression modelingAssociated componentsCopingFunctioningWorryCross-sectional studyDisorders
2012
Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy
Novarino G, El-Fishawy P, Kayserili H, Meguid NA, Scott EM, Schroth J, Silhavy JL, Kara M, Khalil RO, Ben-Omran T, Ercan-Sencicek AG, Hashish AF, Sanders SJ, Gupta AR, Hashem HS, Matern D, Gabriel S, Sweetman L, Rahimi Y, Harris RA, State MW, Gleeson JG. Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy. Science 2012, 338: 394-397. PMID: 22956686, PMCID: PMC3704165, DOI: 10.1126/science.1224631.Peer-Reviewed Original ResearchMeSH Keywords3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)AdolescentAmino Acids, Branched-ChainAnimalsArginineAutistic DisorderBase SequenceBrainChildChild, PreschoolDietEpilepsyFemaleHomozygoteHumansIntellectual DisabilityMaleMiceMice, KnockoutMolecular Sequence DataMutationPedigreePhosphorylationProtein FoldingProtein Structure, TertiaryRNA, MessengerYoung AdultConceptsBranched-chain ketoacid dehydrogenaseBrain amino acid profilesPlasma branched-chain amino acidsIntellectual disabilityBranched-chain amino acidsTreatable syndromeNeurobehavioral deficitsTreatable formSomatic treatmentsDietary supplementationKnockout miceEpilepsyPhosphorylation-mediated inactivationConsanguineous familyReciprocal social interactionSyndromeKetoacid dehydrogenaseAmino acid profileMessenger RNAAutism spectrum disorderE1α phosphorylationDisabilitySpectrum disorderHeterogeneous constellationAcid profile