2021
Psychometric properties of the Chinese Parent Version of the Autism Spectrum Rating Scale: Rasch analysis
Yan W, Siegert RJ, Zhou H, Zou X, Wu L, Luo X, Li T, Huang Y, Guan H, Chen X, Mao M, Xia K, Zhang L, Li E, Li C, Zhang X, Zhou Y, Shih A, Fombonne E, Zheng Y, Han J, Sun Z, Jiang YH, Wang Y. Psychometric properties of the Chinese Parent Version of the Autism Spectrum Rating Scale: Rasch analysis. Autism 2021, 25: 1872-1884. PMID: 33845648, PMCID: PMC8548063, DOI: 10.1177/13623613211004054.Peer-Reviewed Original ResearchConceptsAutism Spectrum Rating ScaleAutism spectrum disorderSpectrum disorderRasch analysisRating ScaleBehavioral rating scalesIdentification of childrenParent versionRasch measurementPsychometric propertiesChinese childrenChildrenDisordersParentsSupport servicesScaleStringent criteriaItemsGrandparentsScientific measurementsQuestionnaireBehavior characteristicsTeachers
2020
Prevalence of Autism Spectrum Disorder in China: A Nationwide Multi-center Population-based Study Among Children Aged 6 to 12 Years
Zhou H, Xu X, Yan W, Zou X, Wu L, Luo X, Li T, Huang Y, Guan H, Chen X, Mao M, Xia K, Zhang L, Li E, Ge X, Zhang L, Li C, Zhang X, Zhou Y, Ding D, Shih A, Fombonne E, Zheng Y, Han J, Sun Z, Jiang YH, Wang Y. Prevalence of Autism Spectrum Disorder in China: A Nationwide Multi-center Population-based Study Among Children Aged 6 to 12 Years. Neuroscience Bulletin 2020, 36: 961-971. PMID: 32607739, PMCID: PMC7475160, DOI: 10.1007/s12264-020-00530-6.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderMulti-centre populationChildren Aged 6Chinese childrenASD casesFirst national estimatesNeuropsychiatric comorbiditiesTarget population samplePrevalence studyPrevalence ratesSpectrum disorderAged 6Response rateASD prevalence ratesOverall populationNational estimatesPrevalenceRating ScaleASD prevalenceComorbiditiesChildrenPopulation sampleTarget populationConvenient clusterDisorders
2018
Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?
McConkie‐Rosell A, Hooper SR, Pena LDM, Schoch K, Spillmann RC, Jiang Y, Cope H, Network U, Palmer C, Shashi V. Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing? Journal Of Genetic Counseling 2018, 27: 935-946. PMID: 29297108, PMCID: PMC6028305, DOI: 10.1007/s10897-017-0193-5.Peer-Reviewed Original ResearchConceptsPsychosocial profileHealth care empowermentPsychological needsParents’ psychological needsHigh emotional costParents of childrenAnxiety symptomsEmotional costsUndiagnosed childrenOlder childrenGender differencesParentsUndiagnosed diseaseClinical sitesAnxietyChildrenUndiagnosed Diseases NetworkDegree toleranceHealth care engagementDepressionChronic illnessCare engagementClinical evaluationMedical findingsEmpowerment
2017
Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing
Wang Y, Du X, Bin R, Yu S, Xia Z, Zheng G, Zhong J, Zhang Y, Jiang YH, Wang Y. Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing. Scientific Reports 2017, 7: 40319. PMID: 28074849, PMCID: PMC5225856, DOI: 10.1038/srep40319.Peer-Reviewed Original ResearchConceptsNGS panelCaucasian childrenEtiology of epilepsyLikely pathogenic variantsTargeted exome sequencingGenetic variantsSingle nucleotide variantsUnknown etiologyEpilepsy patientsSpecific treatmentEpilepsyEpilepsy disordersPathogenic variantsPathologic variantsGenetic susceptibilityEpilepsy genesExome sequencingEtiologyGenetic factorsEpilepsy familiesChinese childrenCandidate genesClinicNovel candidate genesChildren
2015
Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing
Shashi V, Petrovski S, Schoch K, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB. Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing. Molecular Case Studies 2015, 1: a000265. PMID: 27148562, PMCID: PMC4850881, DOI: 10.1101/mcs.a000265.Peer-Reviewed Original ResearchWhole-exome sequencingTherapeutic responseImmediate clinical responseSustained therapeutic responseProgressive neurological conditionMotor weaknessClinical responseMedical managementFatal conditionCase reportSensory ataxiaBrown-VialettoProgressive conditionNeurological conditionsDisease processSyndrome 2Patient careAccurate diagnosisRiboflavin therapyVision impairmentTherapyPromising outcomesDiagnosisChildrenReport