Sandin S, Lichtenstein P, Kuja-Halkola R, Hultman C, Larsson H, Reichenberg A. The heritability of autism spectrum disorder. JAMA. 2017;318:1182–4.
Article
PubMed
PubMed Central
Google Scholar
Baio J, Wiggins L, Christensen DL, Maenner MJ, Daniels J, Warren Z, et al. Prevalence of autism spectrum disorder among children aged 8 years - autism and developmental disabilities monitoring network, 11 sites, United States, 2014. MMWR Surveill Summ. 2018;67:1–23.
Article
PubMed
PubMed Central
Google Scholar
Gaugler T, Klei L, Sanders SJ, Bodea CA, Goldberg AP, Lee AB, et al. Most genetic risk for autism resides with common variation. Nat Genet. 2014;46:881–5.
Article
CAS
PubMed
PubMed Central
Google Scholar
Boyle EA, Li YI, Pritchard JK. An expanded view of complex traits: from polygenic to omnigenic. Cell. 2017;169:1177–86.
Article
CAS
PubMed
PubMed Central
Google Scholar
Weiner DJ, Wigdor EM, Ripke S, Walters RK, Kosmicki JA, Grove J, et al. Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. Nat Genet. 2017;49:978–85.
Article
CAS
PubMed
PubMed Central
Google Scholar
Ozonoff S, Young GS, Carter A, Messinger D, Yirmiya N, Zwaigenbaum L, et al. Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study. Pediatrics. 2011;128:e488–95.
PubMed
PubMed Central
Google Scholar
Ozonoff S, Young GS, Belding A, Hill M, Hill A, Hutman T, et al. The broader autism phenotype in infancy: when does it emerge? J Am Acad Child Adolesc Psychiatry. 2014;53:398–407.e2.
Article
PubMed
PubMed Central
Google Scholar
MacLean JE, Szatmari P, Jones MB, Bryson SE, Mahoney WJ, Bartolucci G, et al. Familial factors influence level of functioning in pervasive developmental disorder. J Am Acad Child Adolesc Psychiatry. 1999;38:746–53.
Article
CAS
PubMed
Google Scholar
Szatmari P, Jones MB, Holden J, Bryson S, Mahoney W, Tuff L, et al. High phenotypic correlations among siblings with autism and pervasive developmental disorders. Am J Med Genet. 1996;67:354–60.
Article
CAS
PubMed
Google Scholar
Goin-Kochel RP, Mazefsky CA, Riley BP. Level of functioning in autism spectrum disorders: phenotypic congruence among affected siblings. J Autism Dev Disord. 2008;38:1019–27.
Article
PubMed
Google Scholar
Spiker D, Lotspeich LJ, Dimiceli S, Myers RM, Risch N. Behavioral phenotypic variation in autism multiplex families: evidence for a continuous severity gradient. Am J Med Genet. 2002;114:129–36.
Article
PubMed
Google Scholar
Folstein S, Rutter M. Infantile autism: a genetic study of 21 twin pairs. J Child Psychol Psychiatry. 1977;18:297–321.
Article
CAS
PubMed
Google Scholar
Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E, et al. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med. 1995;25:63–77.
Article
CAS
PubMed
Google Scholar
Kolevzon A, Smith CJ, Schmeidler J, Buxbaum JD, Silverman JM. Familial symptom domains in monozygotic siblings with autism. Am J Med Genet B Neuropsychiatr Genet. 2004;129B:76–81.
Article
PubMed
Google Scholar
Mazefsky CA, Goin-Kochel RP, Riley BP, Maes HH, The Autism Genetic Resource Exchange Consortium. Genetic and environmental influences on symptom domains in twins and siblings with autism. Res Autism Spectr Disord. 2008;2:320–31.
Article
PubMed
PubMed Central
Google Scholar
Schwichtenberg AJ, Young GS, Sigman M, Hutman T, Ozonoff S. Can family affectedness inform infant sibling outcomes of autism spectrum disorders? J Child Psychol Psychiatry. 2010;51:1021–30.
Article
CAS
PubMed
PubMed Central
Google Scholar
Estes A, Zwaigenbaum L, Gu H, St John T, Paterson S, Elison JT, et al. Behavioral, cognitive, and adaptive development in infants with autism spectrum disorder in the first 2 years of life. J Neurodev Disord. 2015;7:24.
Article
PubMed
PubMed Central
Google Scholar
Swanson MR, Shen MD, Wolff JJ, Elison JT, Emerson RW, Styner MA, et al. Subcortical brain and behavior phenotypes differentiate infants with autism versus language delay. Biol Psychiatry Cogn Neurosci Neuroimaging. 2017;2:664–72.
Article
PubMed
PubMed Central
Google Scholar
Iverson JM. Early motor and communicative development in infants with an older sibling with autism spectrum disorder. J Speech Lang Hear Res. 2018;61:2673–84.
Article
PubMed
PubMed Central
Google Scholar
Iverson JM, Shic F, Wall CA, Chawarska K, Curtin S, Estes A, et al. Early motor abilities in infants at heightened versus low risk for ASD: a Baby Siblings Research Consortium (BSRC) study. J Abnorm Psychol. 2019;128:69–80.
Article
PubMed
PubMed Central
Google Scholar
Bedford R, Pickles A, Lord C. Early gross motor skills predict the subsequent development of language in children with autism spectrum disorder. Autism Res. 2016;9:993–1001.
Article
PubMed
Google Scholar
Maxwell M. Family Interview for Genetic Studies (FIGS): a manual for FIGS. Bethesda: NIMH:Clinical Neurogenetics Branch; 1992.
Google Scholar
Rutter M, Le Couteur A, Lord C. Autism diagnostic interview-revised. Western Psychological Services: Los Angeles; 2003.
Google Scholar
Rutter M, Bailey A, Berument S, Lord C. Social Communication Questionnaire (SCQ). Western Psychological Services: Los Angeles; 2003.
Google Scholar
Marvin AR, Marvin DJ, Lipkin PH, Law JK. Analysis of Social Communication Questionnaire (SCQ) screening for children less than age 4. Curr Dev Disord Rep. 2017;4:137–44.
Article
PubMed
PubMed Central
Google Scholar
Sparrow SS, Cicchetti DV, Balla DA. Vineland Adaptive Behavior Scales: Second Edition (Vineland II), the expanded interview form. Livonia: Pearson Assessments; 2008.
Google Scholar
Mullen EM. Mullen Scales of Early Learning: AGS Edition. Circle Pines: American Guidance Service, Inc; 1995.
Google Scholar
Lord C, Risi S, Lambrecht L, Cook EH, Leventhal BL, DiLavore PC, et al. The Autism Diagnostic Observation Schedule-Generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord. 2000;30:205–23.
Article
CAS
PubMed
Google Scholar
Gotham K, Risi S, Pickles A, Lord C. The Autism Diagnostic Observation Schedule: revised algorithms for improved diagnostic validity. J Autism Dev Disord. 2007;37:613–27.
Article
PubMed
Google Scholar
Hus V, Gotham K, Lord C. Standardizing ADOS Domain Scores: separating severity of social affect and restricted and repetitive behaviors. J Autism Dev Disord. 2012;44:2400–12.
Article
Google Scholar
Leppa VM, Kravitz SN, Martin CL, Andrieux J, Le Caignec C, Martin-Coignard D, et al. Rare inherited and de novo CNVs reveal complex contributions to ASD risk in multiplex families. Am J Hum Genet. 2016;99:540–54.
Article
CAS
PubMed
PubMed Central
Google Scholar
Bölte S, Poustka F. The relation between general cognitive level and adaptive behavior domains in individuals with autism with and without co-morbid mental retardation. Child Psychiatry Hum Dev. 2002;33:165–72.
Article
PubMed
Google Scholar
Constantino JN, Lajonchere C, Lutz M, Gray T, Abbacchi A, McKenna K, et al. Autistic social impairment in the siblings of children with pervasive developmental disorders. AJP. 2006;163:294–6.
Article
Google Scholar
Losh M, Childress D, Lam K, Piven J. Defining key features of the broad autism phenotype: a comparison across parents of multiple- and single-incidence autism families. Am J Med Genet B Neuropsychiatr Genet. 2008;147B:424–33.
Article
PubMed
PubMed Central
Google Scholar
Virkud YV, Todd RD, Abbacchi AM, Zhang Y, Constantino JN. Familial aggregation of quantitative autistic traits in multiplex versus simplex autism. Am J Med Genet B Neuropsychiatr Genet. 2009;150B:328–34.
Article
PubMed
PubMed Central
Google Scholar
Castelbaum L, Sylvester CM, Zhang Y, Yu Q, Constantino JN. On the nature of monozygotic twin concordance and discordance for autistic trait severity: a quantitative analysis. Behav Genet. 2019;19:622.
Google Scholar
Marrus N, Hall LP, Paterson SJ, Elison JT, Wolff JJ, Swanson MR, et al. Language delay aggregates in toddler siblings of children with autism spectrum disorder. J Neurodev Disord. 2018;10:636.
Article
Google Scholar
Mitchell S, Brian J, Zwaigenbaum L, Roberts W, Szatmari P, Smith I, et al. Early language and communication development of infants later diagnosed with autism spectrum disorder. J Dev Behav Pediatr. 2006;27:S69–78.
Article
PubMed
Google Scholar
Hazlett HC, Gu H, Munsell BC, Kim SH, Styner M, Wolff JJ, et al. Early brain development in infants at high risk for autism spectrum disorder. Nature. 2017;542:348–51.
Article
CAS
PubMed
PubMed Central
Google Scholar
Emerson RW, Adams C, Nishino T, Hazlett HC, Wolff JJ, Zwaigenbaum L, et al. Functional neuroimaging of high-risk 6-month-old infants predicts a diagnosis of autism at 24 months of age. Sci Transl Med. 2017;9:eaag2882.
Article
PubMed
PubMed Central
Google Scholar
Girault JB, Munsell BC, Puechmaille D, Goldman BD, Prieto JC, Styner M, et al. White matter connectomes at birth accurately predict cognitive abilities at age 2. Neuroimage. 2019;192:145–55.
Article
PubMed
Google Scholar
Gabrieli JDE, Ghosh SS, Whitfield-Gabrieli S. Prediction as a humanitarian and pragmatic contribution from human cognitive neuroscience. Neuron. 2015;85:11–26.
Article
CAS
PubMed
PubMed Central
Google Scholar
Collins FS, Varmus H. A new initiative on precision medicine. N Engl J Med. 2015;372:793–5.
Article
CAS
PubMed
PubMed Central
Google Scholar
Finucane B, Challman TD, Martin CL, Ledbetter DH. Shift happens: family background influences clinical variability in genetic neurodevelopmental disorders. Genetics Med. 2015;18:302–4.
Article
CAS
Google Scholar
Vorstman JAS, Parr JR, Moreno-De-Luca D, Anney RJL, Nurnberger JI Jr, Hallmayer JF. Autism genetics: opportunities and challenges for clinical translation. Nat Rev Genet. 2017;18:362–76.
Article
CAS
PubMed
Google Scholar
ReproGen Consortium, Psychiatric Genomics Consortium, Genetic Consortium for Anorexia Nervosa of the Wellcome Trust Case Control Consortium 3, Bulik-Sullivan B, Finucane HK, Anttila V, et al. An atlas of genetic correlations across human diseases and traits. Nat Genet. 2015;47:1236–41.
Article
PubMed Central
CAS
Google Scholar
Constantino JN. Deconstructing autism: from unitary syndrome to contributory developmental endophenotypes. Int Rev Psychiatry. 2018;30:18–24.
Article
PubMed
PubMed Central
Google Scholar
Constantino JN. Early behavioral indices of inherited liability to autism. Pediatr Res. 2018;114:129.
Google Scholar
Piven J, Elison JT, Zylka MJ. Toward a conceptual framework for early brain and behavior development in autism. Mol Psychiatry. 2017;22:1385–94.
Article
CAS
PubMed
PubMed Central
Google Scholar
Hawks ZW, Marrus N, Glowinski AL, Constantino JN. Early origins of autism comorbidity: neuropsychiatric traits correlated in childhood are independent in infancy. J Abnorm Child Psychol. 2018;40:57.
Google Scholar
Pohl A, Jones WR, Marrus N, Zhang Y, Klin A, Constantino JN. Behavioral predictors of autism recurrence are genetically independent and influence social reciprocity: evidence that polygenic ASD risk is mediated by separable elements of developmental liability. Transl Psychiatry. 2019;9:202.
Article
PubMed
PubMed Central
Google Scholar
Girault JB, Piven J. The Neurodevelopment of Autism from Infancy Through Toddlerhood. Neuroimaging Clin N Am. 2020;30(1):97–114. https://doi.org/10.1016/j.nic.2019.09.009.
Article
PubMed
Google Scholar
Constantino JN, Kennon-McGill S, Weichselbaum C, Marrus N, Haider A, Glowinski AL, et al. Infant viewing of social scenes is under genetic control and is atypical in autism. Nature. 2017;547:340–4.
Article
CAS
PubMed
PubMed Central
Google Scholar
Elison JT, Wolff JJ, Heimer DC, Paterson SJ, Gu H, Hazlett HC, et al. Frontolimbic neural circuitry at 6 months predicts individual differences in joint attention at 9 months. Dev Sci. 2013;16:186–97.
Article
PubMed
Google Scholar
Chawarska K, Macari S, Shic F. Decreased spontaneous attention to social scenes in 6-month-old infants later diagnosed with autism spectrum disorders. Biol Psychiatry. 2013;74:195–203.
Article
PubMed
PubMed Central
Google Scholar
Adolphs R, Spezio ML, Parlier M, Piven J. Distinct face-processing strategies in parents of autistic children. Curr Biol. 2008;18:1090–3.
Article
CAS
PubMed
PubMed Central
Google Scholar
Hilton CL, Zhang Y, Whilte MR, Klohr CL, Constantino J. Motor impairment in sibling pairs concordant and discordant for autism spectrum disorders. Autism. 2012;16:430–41.
Article
PubMed
Google Scholar