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Journal of Autism and Developmental Disorders

, Volume 43, Issue 9, pp 2026–2037 | Cite as

Head Circumferences in Twins With and Without Autism Spectrum Disorders

  • Wendy FroehlichEmail author
  • Sue Cleveland
  • Andrea Torres
  • Jennifer Phillips
  • Brianne Cohen
  • Tiffany Torigoe
  • Janet Miller
  • Angie Fedele
  • Jack Collins
  • Karen Smith
  • Linda Lotspeich
  • Lisa A. Croen
  • Sally Ozonoff
  • Clara Lajonchere
  • Judith K. Grether
  • Joachim Hallmayer
Original Paper

Abstract

To determine the genetic relationship between head circumference (HC) and Autism Spectrum Disorders (ASDs). Twin pairs with at least one twin with an ASD were assessed. HCs in affected and unaffected individuals were compared, as were HC correlations in monozygotic and dizygotic pairs. 404 subjects, ages 4–18, were included. 20 % of males and 27 % of females with an ASD had macrocephaly. Unaffected co-twins showed similar rates (16 % of males and 22 % of females). Statistical analysis revealed no significant difference in HCs between affected and unaffected twins. Twins with ASDs and unaffected co-twins have similar HCs and increased rates of macrocephaly. Correlations demonstrated partial inheritance of HCs. Thus, macrocephaly may represent an endophenotype in ASDs.

Keywords

Macrocephaly Head circumference Twins Endophenotype Genetics 

Notes

Acknowledgments

We would like to thank the participating families for their time and dedication. Our thanks is also given to the National Institute of Mental Health (Grant R01MH067005) and Autism Speaks for funding the California Autism Twins Study.

Conflict of interest

The authors declare that they have no conflict of interest.

References

  1. Abrahams, B. S., & Geschwind, D. H. (2008). Advances in autism genetics: On the threshold of a new neurobiology. Nature Reviews Genetics, 9(6), 341–355.PubMedCrossRefGoogle Scholar
  2. Anney, R., Klei, L., Pinto, D., Regan, R., Conroy, J., Magalhaes, T. R., et al. (2010). A genome-wide scan for common alleles affecting risk for autism. Human Molecular Genetics, 19(20), 4072–4082.PubMedCrossRefGoogle Scholar
  3. Arbuckle, T. E., Wilkins, R., & Sherman, G. J. (1993). Birth weight percentiles by gestational age in Canada. Obstetrics and Gynecology, 81(1), 39–48.PubMedGoogle Scholar
  4. Bailey, A., Le Couteur, A., Gottesman, I., Bolton, P., Simonoff, E., Yuzda, E., et al. (1995). Autism as a strongly genetic disorder: Evidence from a British twin study. [Research Support, Non-U.S. Gov’t Twin Study]. Psychological Medicine, 25(1), 63–77.PubMedCrossRefGoogle Scholar
  5. Barnard-Brak, L., Sulak, T., & Hatz, J. K. (2011). Macrocephaly in children with autism spectrum disorders. [Comparative Study]. Pediatric Neurology, 44(2), 97–100. doi: 10.1016/j.pediatrneurol.2010.09.011.PubMedCrossRefGoogle Scholar
  6. Bolton, P. F., Roobol, M., Allsopp, L., & Pickles, A. (2001). Association between idiopathic infantile macrocephaly and autism spectrum disorders. [Letter]. Lancet, 358(9283), 726–727. doi: 10.1016/S0140-6736(01)05903-7.PubMedCrossRefGoogle Scholar
  7. Buxbaum, J. D., Cai, G., Nygren, G., Chaste, P., Delorme, R., Goldsmith, J., et al. (2007). Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly. [Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov’t]. BMC Medical Genetics, 8, 68. doi: 10.1186/1471-2350-8-68.PubMedCrossRefGoogle Scholar
  8. Carper, R. A., Moses, P., Tigue, Z. D., & Courchesne, E. (2002). Cerebral lobes in autism: Early hyperplasia and abnormal age effects. NeuroImage, 16(4), 1038–1051. doi: 10.1006/nimg.2002.1099.PubMedCrossRefGoogle Scholar
  9. Constantino, J. (2002). The social responsiveness scale. Los Angeles, CA: Western Psychological Services.Google Scholar
  10. Constantino, J. N., Davis, S., Todd, R., Schindler, M., Gross, M., Brophy, S., et al. (2003). Validation of a brief quantitative measure of autistic traits: Comparison of the social responsiveness scale with the autism diagnostic interview-revised. Journal of Autism and Developmental Disorders, 33(4), 427–433.PubMedCrossRefGoogle Scholar
  11. Constantino, J. N., Majmudar, P., Bottini, A., Arvin, M., Virkud, Y., Simons, P., et al. (2010). Infant head growth in male siblings of children with and without autism spectrum disorders. Journal of neurodevelopmental disorders, 2(1), 39–46. doi: 10.1007/s11689-009-9036-5.PubMedCrossRefGoogle Scholar
  12. Courchesne, E. (2004). Brain development in autism: early overgrowth followed by premature arrest of growth. [Research Support, U.S. Gov’t, P.H.S.Review]. Mental Retardation and Developmental Disabilities Research Reviews, 10(2), 106–111. doi: 10.1002/mrdd.20020.PubMedCrossRefGoogle Scholar
  13. Courchesne, E., Carper, R., & Akshoomoff, N. (2003). Evidence of brain overgrowth in the first year of life in autism. [Research Support, U.S. Gov’t, P.H.S.]. JAMA, the Journal of the American Medical Association, 290(3), 337–344. doi: 10.1001/jama.290.3.337.CrossRefGoogle Scholar
  14. Davidovitch, M., Patterson, B., & Gartside, P. (1996). Head circumference measurements in children with autism. [Research Support, U.S. Gov’t, P.H.S.]. Journal of Child Neurology, 11(5), 389–393.PubMedCrossRefGoogle Scholar
  15. Deutsch, C. K., & Joseph, R. M. (2003). Brief report: Cognitive correlates of enlarged head circumference in children with autism. [Research Support, U.S. Gov’t, P.H.S.]. Journal of Autism and Developmental Disorders, 33(2), 209–215.PubMedCrossRefGoogle Scholar
  16. Dunn, D., Dunn, L., & Dunn, L. (2006). Peabody picture vocabulary test (4th ed.). Bloomington, MN: Pearson Education, Inc.Google Scholar
  17. Falconer, D., & MacKay, T. (1996). Heritability. In Introduction to quantitative genetics (4th ed., pp. 160–183). Harlow, Essex, UK: Longman’s Green.Google Scholar
  18. Fidler, D. J., Bailey, J. N., & Smalley, S. L. (2000). Macrocephaly in autism and other pervasive developmental disorders. [Comparative Study]. Developmental Medicine and Child Neurology, 42(11), 737–740.PubMedCrossRefGoogle Scholar
  19. Folstein, S., & Rutter, M. (1977). Infantile autism: a genetic study of 21 twin pairs. [Case Reports]. Journal of Child Psychology and Psychiatry and Allied Disciplines, 18(4), 297–321.CrossRefGoogle Scholar
  20. Freeman, B. J., Del’Homme, M., Guthrie, D., & Zhang, F. (1999). Vineland adaptive behavior scale scores as a function of age and initial IQ in 210 autistic children. Journal of Autism and Developmental Disorders, 29(5), 379–384.PubMedCrossRefGoogle Scholar
  21. Geraedts, E. J., van Dommelen, P., Caliebe, J., Visser, R., Ranke, M. B., van Buuren, S., et al. (2011). Association between head circumference and body size. Hormone Research in Paediatrics, 75(3), 213–219.PubMedCrossRefGoogle Scholar
  22. Giannandrea, M., Bianchi, V., Mignogna, M. L., Sirri, A., Carrabino, S., D’Elia, E., et al. (2010). Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. [Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov’t]. American Journal of Human Genetics, 86(2), 185–195. doi: 10.1016/j.ajhg.2010.01.011.PubMedCrossRefGoogle Scholar
  23. Gottesman, I. I., & Gould, T. D. (2003). The endophenotype concept in psychiatry: Etymology and strategic intentions. The American journal of psychiatry, 160(4), 636–645.PubMedCrossRefGoogle Scholar
  24. Gundy, J. H. (2001). The pediatric physical examination. In R. A. Hoekelman (Ed.), Primary pediatric care (4th ed., p 77). St. Louis: Mosby.Google Scholar
  25. Hallmayer, J., Cleveland, S., Torres, A., Phillips, J., Cohen, B., Torigoe, T., et al. (2011). Genetic heritability and shared environmental factors among twin pairs with autism. Archives of General Psychiatry,. doi: 10.1001/archgenpsychiatry.2011.76.PubMedGoogle Scholar
  26. Herbert, M. R. (2005). Large brains in autism: The challenge of pervasive abnormality. [Research Support, Non-U.S. Gov’t Review]. The Neuroscientist: A Review Journal Bringing Neurobiology, Neurology and Psychiatry, 11(5), 417–440. doi: 10.1177/0091270005278866.CrossRefGoogle Scholar
  27. Ivanovic, D. M., Leiva, B. P., Perez, H. T., Olivares, M. G., Diaz, N. S., Urrutia, M. S., et al. (2004). Head size and intelligence, learning, nutritional status and brain development. Head, IQ, learning, nutrition and brain [Research Support, Non-U.S. Gov’t]. Neuropsychologia, 42(8), 1118–1131. doi: 10.1016/j.neuropsychologia.2003.11.022.PubMedCrossRefGoogle Scholar
  28. Kanner, L. (1943). Autistic disturbances of affective contact. Nervous Child, 2(21), 217–250.Google Scholar
  29. Kraijer, D. (2000). Review of adaptive behavior studies in mentally retarded persons with autism/pervasive developmental disorder. [Review]. Journal of Autism and Developmental Disorders, 30(1), 39–47.PubMedCrossRefGoogle Scholar
  30. Kuczmarski, R. J., Ogden, C. L., Grummer-Strawn, L. M., Flegal, K. M., Guo, S. S., Wei, R., et al. (2000). CDC growth charts: United States. Advance Data, (314), 1–27.Google Scholar
  31. Lainhart, J. E., Bigler, E. D., Bocian, M., Coon, H., Dinh, E., Dawson, G., et al. (2006). Head circumference and height in autism: A study by the collaborative program of excellence in autism. [Multicenter study research support, N.I.H., extramural]. American Journal of Medical Genetics. Part A, 140(21), 2257–2274. doi: 10.1002/ajmg.a.31465.PubMedCrossRefGoogle Scholar
  32. Lord, C., Risi, S., Lambrecht, L., Cook, E. H, Jr, Leventhal, B. L., DiLavore, P. C., et al. (2000). The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism. Journal of Autism and Developmental Disorders, 30(3), 205–223.PubMedCrossRefGoogle Scholar
  33. Lord, C., Rutter, M., DiLavore, P. C., & Risi, S. (1999). Autism diagnostic observation scheduleWPS (WPS edn.). Los Angeles.Google Scholar
  34. Lord, C., Rutter, M., & Le Couteur, A. (1994). Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. [Research support, non-U.S. Gov’t research support, U.S. Gov’t, P.H.S.]. Journal of Autism and Developmental Disorders, 24(5), 659–685.PubMedCrossRefGoogle Scholar
  35. Menounou, A. (2011). Head size: Is it important? Advances in Clinical Neuroscience and Rehabilitation, 11(2), 16–20.Google Scholar
  36. Miles, J. H., Hadden, L. L., Takahashi, T. N., & Hillman, R. E. (2000). Head circumference is an independent clinical finding associated with autism. [Research support, non-U.S. Gov’t]. American Journal of Medical Genetics, 95(4), 339–350.PubMedCrossRefGoogle Scholar
  37. Moreno-De-Luca, D., Mulle, J. G., Kaminsky, E. B., Sanders, S. J., Myers, S. M., Adam, M. P., et al. (2010). Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. [Research support, N.I.H., extramural research support, non-U.S. Gov’t]. American Journal of Human Genetics, 87(5), 618–630. doi: 10.1016/j.ajhg.2010.10.004.PubMedCrossRefGoogle Scholar
  38. Mraz, K. D., Green, J., Dumont-Mathieu, T., Makin, S., & Fein, D. (2007). Correlates of head circumference growth in infants later diagnosed with autism spectrum disorders. [Research support, N.I.H., extramural]. Journal of Child Neurology, 22(6), 700–713. doi: 10.1177/0883073807304005.PubMedCrossRefGoogle Scholar
  39. Mullen, E. (1995). Mullen scales of early learning manual. Circle Pines, MN: American Guidance Service Inc.Google Scholar
  40. Reiss, A. L., Abrams, M. T., Singer, H. S., Ross, J. L., & Denckla, M. B. (1996). Brain development, gender and IQ in children. A volumetric imaging study. [Research Support, U.S. Gov’t, P.H.S.]. Brain: A Journal of Neurology 119(Pt 5), 1763–1774.Google Scholar
  41. Risi, S., Lord, C., Gotham, K., Corsello, C., Chrysler, C., Szatmari, P., et al. (2006). Combining information from multiple sources in the diagnosis of autism spectrum disorders. [Research Support, N.I.H., Extramural]. Journal of the American Academy of Child and Adolescent Psychiatry 45(9), 1094–1103. doi: 10.1097/01.chi.0000227880.42780.0e.
  42. Roid, G. H. (2003). Stanford Binet’s intelligence scales, fifth edition, technical manual. Itasca, IL: Riverside Publishing.Google Scholar
  43. Rollins, J. D., Collins, J. S., & Holden, K. R. (2010). United States head circumference growth reference charts: birth to 21 years. [Research Support, Non-U.S. Gov’t]. The Journal of pediatrics, 156(6) 907–913, 913 e901–e902. doi: 10.1016/j.jpeds.2010.01.009.
  44. Rutter, M., Le Couteur, A., & Lord, C. (2003). Autism diagnostic interview-revised. Los Angeles: Western Psychological Services.Google Scholar
  45. Sacco, R., Militerni, R., Frolli, A., Bravaccio, C., Gritti, A., Elia, M., et al. (2007). Clinical, morphological, and biochemical correlates of head circumference in autism. [Research support, non-U.S. Gov’t]. Biological Psychiatry, 62(9), 1038–1047. doi: 10.1016/j.biopsych.2007.04.039.PubMedCrossRefGoogle Scholar
  46. Smit, D. J., Luciano, M., Bartels, M., van Beijsterveldt, C. E., Wright, M. J., Hansell, N. K., et al. (2010). Heritability of head size in Dutch and Australian twin families at ages 0–50 years. [Research support, non-U.S. Gov’t twin study]. Twin Research and Human Genetics: The Official Journal of the International Society for Twin Studies 13(4), 370–380. doi: 10.1375/twin.13.4.370.
  47. Sparrow, S., Balla, D. A., & Cichetti, D. (2005). Vineland adaptive behavior scales (2nd ed.). Bloomington, MN.: Pearson Education, Inc.Google Scholar
  48. Steffenburg, S., Gillberg, C., Hellgren, L., Andersson, L., Gillberg, I. C., Jakobsson, G., et al. (1989). A twin study of autism in Denmark, Finland, Iceland, Norway and Sweden. [Research support, non-U.S. Gov’t]. Journal of Child Psychology and Psychiatry and Allied Disciplines, 30(3), 405–416.CrossRefGoogle Scholar
  49. van Daalen, E., Swinkels, S. H., Dietz, C., van Engeland, H., & Buitelaar, J. K. (2007). Body length and head growth in the first year of life in autism. [Research support, non-U.S. Gov’t]. Pediatric Neurology, 37(5), 324–330. doi: 10.1016/j.pediatrneurol.2007.06.006.PubMedCrossRefGoogle Scholar
  50. Varga, E. A., Pastore, M., Prior, T., Herman, G. E., & McBride, K. L. (2009). The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. Genetics in Medicine: Official Journal of the American College of Medical Genetics, 11(2), 111–117. doi: 10.1097/GIM.0b013e31818fd762.CrossRefGoogle Scholar
  51. Wickett, J. C., Vernon, P. A., & Lee, D. H. (2000). Relationships between factors of intelligence and brain volume. Personality and Individual Differences, 29(6), 1095–1122. doi: 10.1016/s0191-8869(99)00258-5.CrossRefGoogle Scholar
  52. Woodhouse, W., Bailey, A., Rutter, M., Bolton, P., Baird, G., & Le Couteur, A. (1996). Head circumference in autism and other pervasive developmental disorders. [Comparative study]. Journal of Child Psychology and Psychiatry and Allied Disciplines, 37(6), 665–671.CrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Wendy Froehlich
    • 1
    Email author
  • Sue Cleveland
    • 1
  • Andrea Torres
    • 1
  • Jennifer Phillips
    • 1
  • Brianne Cohen
    • 2
  • Tiffany Torigoe
    • 2
  • Janet Miller
    • 2
  • Angie Fedele
    • 2
  • Jack Collins
    • 3
    • 4
  • Karen Smith
    • 5
  • Linda Lotspeich
    • 1
  • Lisa A. Croen
    • 3
  • Sally Ozonoff
    • 6
  • Clara Lajonchere
    • 2
  • Judith K. Grether
    • 4
  • Joachim Hallmayer
    • 1
    • 7
  1. 1.Child and Adolescent Psychiatry, Department of Psychiatry, School of MedicineStanford UniversityStanfordUSA
  2. 2.Clinical ProgramsAutism Genetic Resource Exchange, Autism SpeaksLos AngelesUSA
  3. 3.Division of ResearchKaiser Permanente Northern CaliforniaOaklandUSA
  4. 4.Environmental Health Investigations Branch, Division of Environmental and Occupational Disease ControlCalifornia Department of Public HealthRichmondUSA
  5. 5.Impact Assessment, IncLa JollaUSA
  6. 6.Davis Medical Investigation of Neurodevelopmental Disorders InstituteUniversity of CaliforniaSacramentoUSA
  7. 7.Stanford UniversityStanfordUSA

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