Deconstructing autism: from unitary syndrome to contributory developmental endophenotypes

References

• Beauchaine, T. P., & Constantino, J. N. (2017). Redefining the endophenotype concept to accommodate transdiagnostic vulnerabilities and etiological complexity. Biomarkers in Medicine. Advance online publication. doi:10.2217/bmm-2017-0002
   PubMed Web of Science ®Google Scholar
• Boyle, E. A., Li, Y. I., & Pritchard, J. K. (2017). An expanded view of complex traits: From polygenic to omnigenic. Cell, 169, 1177–1186. doi:10.1016/j.cell.2017.05.038
   PubMed Web of Science ®Google Scholar
• Constantino, J. N. (2011). The quantitative nature of autistic social impairment. Pediatric Research, 69, 55R–62R. doi:10.1203/PDR.0b013e318212ec6e
   PubMed Web of Science ®Google Scholar
• Constantino, J. N. (2014). Recurrence rates in autism spectrum disorders. JAMA, 312, 1154–1155. doi:10.1001/jama.2014.9841
   PubMed Web of Science ®Google Scholar
• Constantino, J. N. (2016). Data from the baby siblings research consortium confirm and specify the nature of the female protective effect in autism: A commentary on Messinger et al. Molecular Autism, 7, 32. doi:10.1186/s13229-016-0092-x
   PubMed Web of Science ®Google Scholar
• Constantino, J. N., & Frazier, T. W. (2013). Commentary: The observed association between autistic severity measured by the social responsiveness scale (SRS) and general psychopathology-a response to Hus et al. (2013). J Child Psychol Psychiatry, 54, 695–697. doi:10.1111/jcpp.12064
   PubMed Web of Science ®Google Scholar
• Constantino, J. N., & Todd, R. D. (2003). Autistic traits in the general population: A twin study. Archives of General Psychiatry, 60, 524–530. doi:10.1001/archpsyc.60.5.524
   PubMed Web of Science ®Google Scholar
• Constantino, J. N., Kennon-McGill, S., Weichselbaum, C., Marrus, N., Haider, A., Glowinski, A. L., … Jones, W. (2017). Infant viewing of social scenes is under genetic control and is atypical in autism. Nature, 547, 340–344. doi:10.1038/nature22999
   PubMed Web of Science ®Google Scholar
• Constantino, J. N., Lajonchere, C., Lutz, M., Gray, T., Abbacchi, A., McKenna, K., … Todd, R. D. (2006). Autistic social impairment in the siblings of children with pervasive developmental disorders. American Journal of Psychiatry, 163, 264–296. doi:10.1176/appi.ajp.163.2.294
   Web of Science ®Google Scholar
• Constantino, J. N., Todorov, A., Hilton, C., Law, P., Zhang, Y., Molloy, E., …Geschwind, D. (2013). Autism recurrence in half siblings: Strong support for genetic mechanisms of transmission in ASD. Mol Psychiatry, 18, 137–138. doi:10.1038/mp.2012.9
   PubMed Web of Science ®Google Scholar
• Constantino, J. N., Zhang, Y., Frazier, T., Abbacchi, A. M., & Law, P. (2010). Sibling recurrence and the genetic epidemiology of autism. The American Journal of Psychiatry, 167, 1349–1356. doi:10.1176/appi.ajp.2010.09101470
   PubMed Web of Science ®Google Scholar
• Diamond, A., & Lee, K. (2011). Interventions shown to aid executive function development in children 4–12 years old. Science (New York, N.Y.), 333, 959–964. doi:10.1126/science.1204529
   PubMed Web of Science ®Google Scholar
• Estes, A., Zwaigenbaum, L., Gu, H., St. John, T., Paterson, S., Elison, J. T. … IBIS Network. (2015). Behavioral, cognitive, and adaptive development in infants with autism spectrum disorder in the first 2 years of life. Journal of Neurodevelopmental Disorders, 7, 24. doi:10.1186/s11689-015-9117-6
   PubMed Web of Science ®Google Scholar
• Finucane, B., Challman, T. D., Martin, C. L., & Ledbetter, D. H. (2016). Shift happens: Family background influences clinical variability in genetic neurodevelopmental disorders. Genetics in Medicine, 18, 302–304. doi:10.1038/gim.2015.92
   PubMed Web of Science ®Google Scholar
• Floris, D. L., Barber, A. D., Nebel, M. B., Martinelli, M., Lai, M. C., Crocetti, D., … Mostofsky, S. H. (2016). Atypical lateralization of motor circuit functional connectivity in children with autism is associated with motor deficits. Mol Autism, 7, 35. doi:10.1186/s13229-016-0096-6
   PubMed Web of Science ®Google Scholar
• Frazier, T. W., Ratliff, K. R., Gruber, C., Zhang, Y., & Law, P. A. (2014). Confirmatory factor analytic structure and measurement invariance of quantitative autistic traits measured by the social responsiveness scale-2. Autism, 18, 31–44. doi:10.1177/1362361313500382
   PubMed Web of Science ®Google Scholar
• Frazier, T. W., Youngstrom, E. A., Hardan, A. Y., Georgiades, S., Constantino, J. N., & Eng, C. (2015). Quantitative autism symptom patterns recapitulate differential mechanisms of genetic transmission in single and multiple incidence families. Molecular Autism, 6, 58. doi:10.1186/s13229-015-0050-z
   PubMed Web of Science ®Google Scholar
• Gaugler, T., Klei, L., Sanders, S. J., Bodea, C. A., Goldberg, A. P., Lee, A. B., … Buxbaum, J. D. (2014). Most genetic risk for autism resides with common variation. Nature Genetics, 46, 881–885. doi:10.1038/ng.3039
   PubMed Web of Science ®Google Scholar
• Hazlett, H. C., Gu, H., Munsell, B. C., Kim, S. H., Styner, M., Wolff, J. J. … For the IBIS Network. (2017). Early brain development in infants at high risk for autism spectrum disorder. Nature, 542, 348–351. doi:10.1038/nature21369
   PubMed Web of Science ®Google Scholar
• Hilton, C. L., Zhang, Y., Whilte, M. R., Klohr, C. L., & Constantino, J. (2012). Motor impairment in sibling pairs concordant and discordant for autism spectrum disorders. Autism: The International Journal of Research and Practice, 16, 430–441. doi:10.1177/1362361311423018
   PubMed Web of Science ®Google Scholar
• Jacquemont, S., Coe, B. P., Hersch, M., Duyzend, M. H., Krumm, N., Bergmann, S., … Eichler, E. E. (2014). A higher mutational burden in females supports a “female protective model” in neurodevelopmental disorders. American Journal of Human Genetics, 94, 415–425. doi:10.1016/j.ajhg.2014.02.001
   PubMed Web of Science ®Google Scholar
• Jones, W., & Klin, A. (2013). Attention to eyes is present but in decline in 2-6-month-old infants later diagnosed with autism. Nature, 504, 427–431. doi:10.1038/nature12715
   PubMed Web of Science ®Google Scholar
• Kamp, C. F., Sperlich, B., & Holmberg, H.-C. (2014). Exercise reduces the symptoms of attention-deficit/hyperactivity disorder and improves social behaviour, motor skills, strength and neuropsychological parameters. Acta Paediatrica, 103, 709–714. doi:10.1111/apa.12628
   PubMed Web of Science ®Google Scholar
• Lahey, B. B., Krueger, R. F., Rathouz, P. J., Waldman, I. D., & Zaid, D. H. (2017). A hierarchical causal taxonomy of psychopathology across the life span. Psychological Bulletin, 143, 142–186. doi:10.1037/bul0000069
   PubMed Web of Science ®Google Scholar
• Landa, R. J., Gross, A. L., Stuart, E. A., & Bauman, M. (2012). Latent class analysis of early developmental trajectory in baby siblings of children with autism. Journal of Child Psychology and Psychiatry, and Allied Disciplines, 53, 986–996. doi:10.1111/j.1469-7610.2012.02558.x
   PubMed Web of Science ®Google Scholar
• Lichtenstein, P., Carlstrom, E., Rastam, M., Gillberg, C., & Anckarsater, H. (2010). The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood. American Journal of Psychiatry, 167, 1357–1363. doi:10.1176/appi.ajp.2010.10020223
   PubMed Web of Science ®Google Scholar
• Lyall, K., Constantino, J. N., Weisskopf, M. G., Roberts, A. L., Ascherio, A., & Santangelo, S. L. (2014). Parental social responsiveness and risk of autism spectrum disorder in offspring. JAMA Psychiatry, 71, 936–942. doi:10.1001/jamapsychiatry.2014.476
   PubMed Web of Science ®Google Scholar
• Mahajan, R., Dirlikov, B., Crocetti, D., & Mostofsky, S. H. (2016). Motor circuit anatomy in children with autism spectrum disorder with or without attention deficit hyperactivity disorder. Autism Research, 9, 67–81. doi:10.1002/aur.1497
   PubMed Web of Science ®Google Scholar
• Moreno-De-Luca, A., Evans, D. W., Boomer, K. B., Hanson, E., Bernier, R., Goin-Kochel, R. P., … Ledbetter, D. H. (2015). The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions. JAMA Psychiatry, 72, 119–126. doi:10.1001/jamapsychiatry.2014.2147
   PubMed Web of Science ®Google Scholar
• Moruzzi, S., Ogliari, A., Ronald, A., Happe, F., & Battaglia, M. (2011). The nature of covariation between autistic traits and clumsiness: a twin study in a general population sample. Journal of Autism and Developmental Disorders, 41, 1665–1674. doi:10.1007/s10803-011-1199-8
   PubMed Web of Science ®Google Scholar
• Mous, S. E., Jiang, A., Agrawal, A., & Constantino, J. N. (2017). Attention and motor deficits index non-specific background liabilities that predict autism recurrence in siblings. Journal of Neurodevelopmental Disorders, 9, 32. doi:10.1186/s11689-017-9212-y
   PubMed Web of Science ®Google Scholar
• Ozonoff, S., Young, G. S., Belding, A., Hill, M., Hill, A., Hutman, T., … Iosif, A.-M. (2014). The broader autism phenotype in infancy: When does it emerge? Journal of the American Academy of Child and Adolescent Psychiatry, 53, 398–407.e2. doi:10.1016/j.jaac.2013.12.020
   PubMed Web of Science ®Google Scholar
• Page, J., Constantino, J. N., Zambrana, K., Martin, E., Tunc, I., Zhang, Y., … Messinger, D. (2016). Quantitative autistic trait measurements index background genetic risk for ASD in Hispanic families. Molecular Autism, 7, 39. doi:10.1186/s13229-016-0100-1
   PubMed Web of Science ®Google Scholar
• Palmer, N., Beam, A., Agniel, D., Eran, A., Manrai, A., Spettell, C., … Kohane, I. (2017). Association of sex with recurrence of autism spectrum disorder among siblings. JAMA Pediatrics, 171, 1107–1112.
   PubMed Web of Science ®Google Scholar
• Robinson, E., Koenen, K. C., McCormick, M. C., Munir, K., Hallett, V., Happé, F., … Ronald, A. (2011). Evidence that autistic traits show the same etiology in the general population and at the quantitative extremes (5%, 2.5% and 1%). Archives of General Psychiatry, 68, 1113–1121. doi:10.1001/archgenpsychiatry.2011.119
   PubMed Web of Science ®Google Scholar
• Ronald, A., Larsson, H., Anckarsater, H., & Lichtenstein, P. (2011). A twin study of autism symptoms in Sweden. Molecular Psychiatry, 16, 1039–1047. doi:10.1038/mp.2010.82
   PubMed Web of Science ®Google Scholar
• Sanders, S. J., He, X., Willsey, A. J., Ercan-Sencicek, A. G., Samocha, K. E., Cicek, A. E., … State, M. W. (2015). Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci. Neuron, 87, 1215–1233. doi:10.1016/j.neuron.2015.09.016
   PubMed Web of Science ®Google Scholar
• Sandin, S., Lichtenstein, P., Kuja-Halkola, R., Hultman, C., Larsson, H., & Reichenberg, A. (2017). The heritability of autism spectrum disorder. JAMA, 318, 1182–1184. doi:10.1001/jama.2017.12141
   PubMed Web of Science ®Google Scholar
• Wellner, D. J., Wigdor, E. M., Ripke, S., Walters, R. K., Kosmicki, J. A., Grove, J., … Robinson, E. B. (2017). Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders. Nature Genetics, 49, 978–985. doi:10.1038/ng.3863
   PubMed Web of Science ®Google Scholar
• Yuen, R. K., Thiruvahindrapuram, B., Merico, D., Walker, S., Tammimies, K., Hoang, N., … Scherer, S. W. (2015). Whole-genome sequencing of quartet families with autism spectrum disorder. Nature Medicine, 21, 185–191. doi:10.1038/nm.3792
   PubMed Web of Science ®Google Scholar