{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T22:49:07Z","timestamp":1793573347040,"version":"4.5.0"},"reference-count":51,"publisher":"American Medical Association (AMA)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Pediatr"],"published-print":{"date-parts":[[2022,9,1]]},"DOI":"10.1001\/jamapediatrics.2022.2423","type":"journal-article","created":{"date-parts":[[2022,7,18]],"date-time":"2022-07-18T11:33:02Z","timestamp":1658143982000},"page":"915","source":"Crossref","is-referenced-by-count":48,"title":["Developmental Variability in Autism Across 17\u202f000 Autistic Individuals and 4000 Siblings Without an Autism Diagnosis"],"prefix":"10.1001","volume":"176","author":[{"given":"Susan S.","family":"Kuo","sequence":"first","affiliation":[{"name":"Stanley Center for Psychiatric Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts"},{"name":"Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celia","family":"van der Merwe","sequence":"additional","affiliation":[{"name":"Stanley Center for Psychiatric Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts"},{"name":"Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jack M.","family":"Fu","sequence":"additional","affiliation":[{"name":"Stanley Center for Psychiatric Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts"},{"name":"Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caitlin E.","family":"Carey","sequence":"additional","affiliation":[{"name":"Stanley Center for Psychiatric Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts"},{"name":"Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston"},{"name":"Analytic and Translational Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael E.","family":"Talkowski","sequence":"additional","affiliation":[{"name":"Stanley Center for Psychiatric Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts"},{"name":"Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston"},{"name":"Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Somer L.","family":"Bishop","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, University of California, San Francisco"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise B.","family":"Robinson","sequence":"additional","affiliation":[{"name":"Stanley Center for Psychiatric Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts"},{"name":"Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston"},{"name":"Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, Massachusetts"},{"name":"Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10","reference":[{"issue":"100","key":"poi220038r1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.neubiorev.2013.12.001","article-title":"Developmental pathways to autism: a review of prospective studies of infants at risk.","volume":"39","author":"Jones","year":"2014","journal-title":"Neurosci Biobehav Rev"},{"issue":"3","key":"poi220038r2","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1007\/s10803-005-3302-5","article-title":"Autism after adolescence: population-based 13- to 22-year follow-up study of 120 individuals with autism diagnosed in childhood.","volume":"35","author":"Billstedt","year":"2005","journal-title":"J Autism Dev Disord"},{"issue":"1","key":"poi220038r3","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1007\/s10803-020-04526-z","article-title":"Trajectories of autism symptom severity change during early childhood.","volume":"51","author":"Waizbard-Bartov","year":"2021","journal-title":"J Autism Dev Disord"},{"issue":"3","key":"poi220038r4","doi-asserted-by":"publisher","first-page":"551","DOI":"10.1002\/aur.v14.3","article-title":"Utilization of the Maternal and Child Health Handbook in early identification of autism spectrum disorder and other neurodevelopmental disorders.","volume":"14","author":"Hirota","year":"2021","journal-title":"Autism Res"},{"issue":"9","key":"poi220038r5","doi-asserted-by":"publisher","first-page":"3216","DOI":"10.1007\/s10803-019-04112-y","article-title":"Age of first walking and associations with symptom severity in children with suspected or diagnosed autism spectrum disorder.","volume":"50","author":"Reindal","year":"2020","journal-title":"J Autism Dev Disord"},{"issue":"3","key":"poi220038r6","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2015-2959","article-title":"Autism spectrum disorder, intellectual disability, and delayed walking.","volume":"137","author":"Bishop","year":"2016","journal-title":"Pediatrics"},{"issue":"6","key":"poi220038r7","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2017-3596","article-title":"Clinical features of children with autism who passed 18-month screening.","volume":"141","author":"\u00d8ien","year":"2018","journal-title":"Pediatrics"},{"issue":"4","key":"poi220038r8","doi-asserted-by":"publisher","first-page":"239","DOI":"10.3109\/17518423.2010.481299","article-title":"Developmental milestones in toddlers with autistic disorder, pervasive developmental disorder\u2014not otherwise specified and atypical development.","volume":"13","author":"Matson","year":"2010","journal-title":"Dev Neurorehabil"},{"issue":"11","key":"poi220038r9","doi-asserted-by":"publisher","first-page":"1","DOI":"10.15585\/mmwr.ss7011a1","article-title":"Prevalence and characteristics of autism spectrum disorder among children aged 8 years\u2014Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2018.","volume":"70","author":"Maenner","year":"2021","journal-title":"MMWR Surveill Summ"},{"issue":"7831","key":"poi220038r10","doi-asserted-by":"publisher","first-page":"757","DOI":"10.1038\/s41586-020-2832-5","article-title":"Evidence for 28 genetic disorders discovered by combining healthcare and research data.","volume":"586","author":"Kaplanis","year":"2020","journal-title":"Nature"},{"issue":"7526","key":"poi220038r11","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1038\/nature13908","article-title":"The contribution of de novo coding mutations to autism spectrum disorder.","volume":"515","author":"Iossifov","year":"2014","journal-title":"Nature"},{"issue":"3","key":"poi220038r12","doi-asserted-by":"publisher","first-page":"568","DOI":"10.1016\/j.cell.2019.12.036","article-title":"Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism.","volume":"180","author":"Satterstrom","year":"2020","journal-title":"Cell"},{"issue":"5","key":"poi220038r13","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1111\/acps.v144.5","article-title":"Autism comorbidities show elevated female-to-male odds ratios and are associated with the age of first autism diagnosis.","volume":"144","author":"R\u00f8dgaard","year":"2021","journal-title":"Acta Psychiatr Scand"},{"issue":"3","key":"poi220038r14","doi-asserted-by":"publisher","first-page":"1","DOI":"10.15585\/mmwr.ss6503a1","article-title":"Prevalence and characteristics of autism spectrum disorder among children aged 8 years\u2013Autism and Developmental Disabilities Monitoring Network, 11 sites, United States, 2012.","volume":"65","author":"Christensen","year":"2016","journal-title":"MMWR Surveill Summ"},{"issue":"1","key":"poi220038r15","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1111\/jcpp.v62.1","article-title":"Sex differences in scores on standardized measures of autism symptoms: a multisite integrative data analysis.","volume":"62","author":"Kaat","year":"2021","journal-title":"J Child Psychol Psychiatry"},{"issue":"3","key":"poi220038r16","doi-asserted-by":"publisher","first-page":"627","DOI":"10.1007\/s10803-013-1913-9","article-title":"Gender and age differences in the core triad of impairments in autism spectrum disorders: a systematic review and meta-analysis.","volume":"44","author":"Van Wijngaarden-Cremers","year":"2014","journal-title":"J Autism Dev Disord"},{"issue":"11","key":"poi220038r17","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1111\/jcpp.v62.11","article-title":"Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries.","volume":"62","author":"Wickstrom","year":"2021","journal-title":"J Child Psychol Psychiatry"},{"issue":"6","key":"poi220038r18","doi-asserted-by":"publisher","first-page":"576","DOI":"10.1176\/appi.ajp.2017.16101115","article-title":"Identification of developmental and behavioral markers associated with genetic abnormalities in autism spectrum disorder.","volume":"174","author":"Bishop","year":"2017","journal-title":"Am J Psychiatry"},{"issue":"4","key":"poi220038r19","doi-asserted-by":"publisher","first-page":"862","DOI":"10.1177\/1362361320971107","article-title":"Age at autism spectrum disorder diagnosis: a systematic review and meta-analysis from 2012 to 2019.","volume":"25","author":"van \u2019t Hof","year":"2021","journal-title":"Autism"},{"issue":"6","key":"poi220038r20","doi-asserted-by":"publisher","first-page":"1431","DOI":"10.1016\/j.jpeds.2015.03.007","article-title":"Parental concerns, provider response, and timeliness of autism spectrum disorder diagnosis.","volume":"166","author":"Zuckerman","year":"2015","journal-title":"J Pediatr"},{"issue":"6","key":"poi220038r21","doi-asserted-by":"publisher","first-page":"1766","DOI":"10.1007\/s10803-014-2336-y","article-title":"Changes in prevalence of autism spectrum disorders in 2001-2011: findings from the Stockholm youth cohort.","volume":"45","author":"Idring","year":"2015","journal-title":"J Autism Dev Disord"},{"issue":"7","key":"poi220038r22","doi-asserted-by":"publisher","first-page":"600","DOI":"10.1002\/ajmg.b.32338","article-title":"Comorbidity of intellectual disability confounds ascertainment of autism: implications for genetic diagnosis.","volume":"168","author":"Polyak","year":"2015","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"issue":"2","key":"poi220038r23","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1093\/ije\/dyr193","article-title":"Cohort effects explain the increase in autism diagnosis among children born from 1992 to 2003 in California.","volume":"41","author":"Keyes","year":"2012","journal-title":"Int J Epidemiol"},{"issue":"4","key":"poi220038r24","doi-asserted-by":"publisher","first-page":"1455","DOI":"10.1007\/s10803-018-3834-0","article-title":"Autism spectrum disorder: incidence and time trends over two decades in a population-based birth cohort.","volume":"49","author":"Myers","year":"2019","journal-title":"J Autism Dev Disord"},{"issue":"2","key":"poi220038r25","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1086\/321292","article-title":"The autism genetic resource exchange: a resource for the study of autism and related neuropsychiatric conditions.","volume":"69","author":"Geschwind","year":"2001","journal-title":"Am J Hum Genet"},{"issue":"2","key":"poi220038r26","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1016\/j.neuron.2010.10.009","article-title":"Changing the landscape of autism research: the autism genetic resource exchange.","volume":"68","author":"Lajonchere","year":"2010","journal-title":"Neuron"},{"issue":"1","key":"poi220038r27","doi-asserted-by":"publisher","first-page":"34","DOI":"10.1186\/2040-2392-5-34","article-title":"The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses.","volume":"5","author":"Buxbaum","year":"2014","journal-title":"Mol Autism"},{"issue":"2","key":"poi220038r28","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1016\/j.neuron.2010.10.006","article-title":"The Simons Simplex Collection: a resource for identification of autism genetic risk factors.","volume":"68","author":"Fischbach","year":"2010","journal-title":"Neuron"},{"issue":"3","key":"poi220038r29","doi-asserted-by":"publisher","first-page":"488","DOI":"10.1016\/j.neuron.2018.01.015","article-title":"SPARK: A US cohort of 50,000 families to accelerate autism research.","volume":"97","author":"SPARK Consortium","year":"2018","journal-title":"Neuron"},{"issue":"6","key":"poi220038r30","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2019-0374","article-title":"Establishing new norms for developmental milestones.","volume":"144","author":"Sheldrick","year":"2019","journal-title":"Pediatrics"},{"issue":"6","key":"poi220038r31","doi-asserted-by":"publisher","first-page":"466","DOI":"10.1016\/j.jaac.2017.03.013","article-title":"What Is the male-to-female ratio in autism spectrum disorder? a systematic review and meta-analysis.","volume":"56","author":"Loomes","year":"2017","journal-title":"J Am Acad Child Adolesc Psychiatry"},{"issue":"9596","key":"poi220038r32","doi-asserted-by":"publisher","first-page":"1453","DOI":"10.1016\/S0140-6736(07)61602-X","article-title":"The Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) statement: guidelines for reporting observational studies.","volume":"370","author":"von Elm","year":"2007","journal-title":"Lancet"},{"issue":"1","key":"poi220038r35","doi-asserted-by":"publisher","first-page":"1","DOI":"10.18637\/jss.v081.i12","article-title":"icenReg: regression models for interval censored data in R.","volume":"81","author":"Anderson-Bergman","year":"2017","journal-title":"J Stat Softw"},{"issue":"6","key":"poi220038r36","doi-asserted-by":"publisher","first-page":"716","DOI":"10.1109\/TAC.1974.1100705","article-title":"A new look at the statistical model identification.","volume":"19","author":"Akaike","year":"1974","journal-title":"IEEE Trans Automat Contr"},{"issue":"4","key":"poi220038r37","doi-asserted-by":"publisher","first-page":"605","DOI":"10.1038\/sj.bjc.6601120","article-title":"Survival analysis part III: multivariate data analysis\u2014choosing a model and assessing its adequacy and fit.","volume":"89","author":"Bradburn","year":"2003","journal-title":"Br J Cancer"},{"issue":"2","key":"poi220038r38","doi-asserted-by":"publisher","first-page":"i02","DOI":"10.18637\/jss.v036.i02","article-title":"Exact and asymptotic weighted logrank tests for interval censored data: the interval R package.","volume":"36","author":"Fay","year":"2010","journal-title":"J Stat Softw"},{"issue":"4","key":"poi220038r39","doi-asserted-by":"publisher","first-page":"845","DOI":"10.2307\/2530698","article-title":"A proportional hazards model for interval-censored failure time data.","volume":"42","author":"Finkelstein","year":"1986","journal-title":"Biometrics"},{"issue":"4","key":"poi220038r40","doi-asserted-by":"publisher","first-page":"1165","DOI":"10.1214\/aos\/1013699998","article-title":"The control of the false discovery rate in multiple testing under dependency.","volume":"29","author":"Benjamini","year":"2001","journal-title":"Ann Stat"},{"issue":"3","key":"poi220038r41","doi-asserted-by":"publisher","DOI":"10.1542\/peds.109.3.e48","article-title":"Sequential acquisition of toilet-training skills: a descriptive study of gender and age differences in normal children.","volume":"109","author":"Schum","year":"2002","journal-title":"Pediatrics"},{"issue":"1","key":"poi220038r42","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1542\/peds.89.1.91","article-title":"The Denver II: a major revision and restandardization of the Denver Developmental Screening Test.","volume":"89","author":"Frankenburg","year":"1992","journal-title":"Pediatrics"},{"key":"poi220038r43","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1111\/j.1651-2227.2006.tb02379.x","article-title":"WHO Motor Development Study: windows of achievement for six gross motor development milestones.","volume":"450","author":"WHO Multicentre Growth Reference Study Group","year":"2006","journal-title":"Acta Paediatr Suppl"},{"key":"poi220038r44","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1186\/s13229-019-0260-x","article-title":"Selection bias on intellectual ability in autism research: a cross-sectional review and meta-analysis.","volume":"10","author":"Russell","year":"2019","journal-title":"Mol Autism"},{"issue":"6","key":"poi220038r45","doi-asserted-by":"publisher","first-page":"698","DOI":"10.1016\/j.jaac.2014.04.003","article-title":"Ascertainment and gender in autism spectrum disorders.","volume":"53","author":"Howe","year":"2014","journal-title":"J Am Acad Child Adolesc Psychiatry"},{"issue":"1","key":"poi220038r46","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1111\/jcpp.v61.1","article-title":"Research review: outcomes of 24- to 36-month-old children with autism spectrum disorder vary by ascertainment strategy: a systematic review and meta-analysis.","volume":"61","author":"Micheletti","year":"2020","journal-title":"J Child Psychol Psychiatry"},{"issue":"5","key":"poi220038r47","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1177\/1362361313480277","article-title":"Explaining differences in age at autism spectrum disorder diagnosis: a critical review.","volume":"18","author":"Daniels","year":"2014","journal-title":"Autism"},{"issue":"9","key":"poi220038r48","doi-asserted-by":"publisher","first-page":"1070","DOI":"10.1111\/jcpp.v62.9","article-title":"Age of walking and intellectual ability in autism spectrum disorder and other neurodevelopmental disorders: a population-based study.","volume":"62","author":"Havdahl","year":"2021","journal-title":"J Child Psychol Psychiatry"},{"issue":"3","key":"poi220038r49","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1177\/0963721421993822","article-title":"Developmental variability and developmental cascades: lessons from motor and language development in infancy.","volume":"30","author":"Iverson","year":"2021","journal-title":"Curr Dir Psychol Sci"},{"issue":"8","key":"poi220038r50","doi-asserted-by":"publisher","first-page":"881","DOI":"10.1038\/ng.3039","article-title":"Most genetic risk for autism resides with common variation.","volume":"46","author":"Gaugler","year":"2014","journal-title":"Nat Genet"},{"issue":"1","key":"poi220038r51","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1186\/s13229-021-00466-2","article-title":"How rare and common risk variation jointly affect liability for autism spectrum disorder.","volume":"12","author":"Klei","year":"2021","journal-title":"Mol Autism"},{"key":"poi220038r33","doi-asserted-by":"crossref","unstructured":"Samocha? KE, Kosmicki? JA, Karczewski? KJ, . Regional missense constraint improves variant deleteriousness prediction.? bioRxiv. 2017:148353. doi:10.1101\/148353","DOI":"10.1101\/148353"},{"key":"poi220038r34","doi-asserted-by":"crossref","unstructured":"Fu? JM, Satterstrom? FK, Peng? M, . Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism.? medRxiv. 2021:2021.12.20.21267194. doi:10.1101\/2021.12.20.21267194","DOI":"10.1101\/2021.12.20.21267194"}],"container-title":["JAMA Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/jamanetwork.com\/journals\/jamapediatrics\/articlepdf\/2794306\/jamapediatrics_kuo_2022_oi_220038_1661357604.15927.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,9,6]],"date-time":"2022-09-06T11:48:59Z","timestamp":1662464939000},"score":1,"resource":{"primary":{"URL":"https:\/\/jamanetwork.com\/journals\/jamapediatrics\/fullarticle\/2794306"}},"subtitle":["Comparisons by Cohort, Intellectual Disability, Genetic Etiology, and Age at Diagnosis"],"short-title":[],"issued":{"date-parts":[[2022,9,1]]},"references-count":51,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2022,9,1]]}},"URL":"https:\/\/doi.org\/10.1001\/jamapediatrics.2022.2423","relation":{},"ISSN":["2168-6203"],"issn-type":[{"value":"2168-6203","type":"print"}],"subject":[],"published":{"date-parts":[[2022,9,1]]}}}