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In search of biomarkers for autism: scientific, social and ethical challenges

Abstract

There is widespread hope that the discovery of valid biomarkers for autism will both reveal the causes of autism and enable earlier and more targeted methods for diagnosis and intervention. However, growing enthusiasm about recent advances in this area of autism research needs to be tempered by an awareness of the major scientific challenges and the important social and ethical concerns arising from the development of biomarkers and their clinical application. Collaborative approaches involving scientists and other stakeholders must combine the search for valid, clinically useful autism biomarkers with efforts to ensure that individuals with autism and their families are treated with respect and understanding.

Figure 1: Towards autism biomarkers.

References

  1. 1

    Abrahams, B. S. & Geschwind, D. H. Advances in ASD genetics: on the threshold of a new neurobiology. Nature Rev. Genet. 9, 341–355 (2008).

    CAS  Article  Google Scholar 

  2. 2

    Belmonte . et al. Autism as a disorder of neural information processing: directions for research and targets for therapy. Mol. Psychiatry 9, 646–663 (2004).

    CAS  PubMed  Article  Google Scholar 

  3. 3

    Elsabbagh, M. & Johnson, M. H. Getting answers from babies about autism. Trends Cogn. Sci. 14, 81–87 (2010).

    PubMed  Article  Google Scholar 

  4. 4

    Baird, G. et al. Prevalence of disorders of the autistic spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP). Lancet 368, 210–215 (2006).

    PubMed  Article  Google Scholar 

  5. 5

    Kim, Y. S. et al. Prevalence of autism spectrum disorders in a total population sample. Am. J. Psychiatry 168, 904–912 (2011).

    PubMed  Article  Google Scholar 

  6. 6

    Wing, L. The Autistic Spectrum: A Guide for Parents and Professionals (Constable, London, 1996).

    Google Scholar 

  7. 7

    Farley, M. A. et al. Twenty-year outcome for individuals with autism and average or near-average cognitive abilities. Autism Res. 2, 109–118 (2009).

    PubMed  Article  Google Scholar 

  8. 8

    Burke, W., Laberge, A. M. & Press, N. Debating clinical utility. Public Health Genomics 13, 215–223 (2010).

    PubMed  PubMed Central  Article  Google Scholar 

  9. 9

    Scherer, S. & Dawson, G. Risk factors for autism: translating genomic discoveries into diagnostics. Hum. Genomics 130, 123–148 (2011).

    Google Scholar 

  10. 10

    Pellicano, E. & Stears, M. Bridging autism, science and society: moving toward an ethically informed approach to autism research. Autism Res. 4, 271–282 (2011).

    PubMed  Article  Google Scholar 

  11. 11

    Murphy, D. et al. Autism in adults. New biological findings and their translational implications to the cost of clinical services. Brain Res. 1380, 22–33 (2011).

    CAS  PubMed  Article  Google Scholar 

  12. 12

    Plauche Johnson, C. et al. Identification and evaluation of children with autism spectrum disorders. Pediatrics 120, 1183–1215 (2000).

    Article  Google Scholar 

  13. 13

    Ecker, C. et al. Describing the brain in autism in five dimensions—magnetic resonance imaging-assisted diagnosis of autism spectrum disorder using a multiparameter classification approach. J. Neurosci. 30, 10612–10623 (2010).

    CAS  PubMed  Article  Google Scholar 

  14. 14

    Ingalhalikar, M. et al. DTI based diagnostic prediction of a disease via pattern classification. Med. Image Comput. Comput. Assist. Interv. 13, 558–565 (2010).

    PubMed  Google Scholar 

  15. 15

    Lange, N. et al. Atypical diffusion tensor hemispheric asymmetry in autism. Autism Res. 3, 350–358 (2010).

    PubMed  PubMed Central  Article  Google Scholar 

  16. 16

    Jiao, Y. et al. Predictive models of autism spectrum disorder based on brain regional cortical thickness. Neuroimage 50, 589–599 (2010).

    PubMed  Article  Google Scholar 

  17. 17

    Stevenson, J. & Kellett, C. Can. Magnetic resonance imaging aid diagnosis of the autism spectrum? J. Neurosci. 30 16763–16765 (2011).

    Article  Google Scholar 

  18. 18

    Zwaigenbaum, L. et al. Clinical assessment and management of toddlers with suspected autism spectrum disorder: insights from studies of high-risk infants. Pediatrics 123, 1383–1391 (2009).

    PubMed  PubMed Central  Article  Google Scholar 

  19. 19

    Dawson, G. Early behavioral intervention, brain plasticity, and the prevention of autism spectrum disorder. Dev. Psychopathol. 20, 775–803 (2008).

    PubMed  Article  Google Scholar 

  20. 20

    Bosl, W. et al. EEG complexity as a biomarker for autism spectrum disorder risk. BMC Med. 9, 18 (2011).

    PubMed  PubMed Central  Article  Google Scholar 

  21. 21

    Pierce, K. et al. Preference for geometric patterns early in life as a risk factor for autism. Arch. Gen. Psychiatry 68, 101–109 (2011).

    PubMed  Article  Google Scholar 

  22. 22

    Griffin, R. & Westbury, C. Infant EEG activity as a biomarker for autism: a promising approach or a false promise? BMC Med. 9, 61 (2011).

    PubMed  PubMed Central  Article  Google Scholar 

  23. 23

    Newschaffer, C. Assessing performance of novel autism screening approaches. Arch. Gen. Psychiatry 68, 101–109 (2011).

    Article  Google Scholar 

  24. 24

    Chawarska, K. & Shic, F. Looking but not seeing: atypical visual scanning and recognition of faces in 2 and 4-year old children with autism spectrum disorder. J. Autism Dev. Disord. 39, 1663–1672 (2009).

    PubMed  PubMed Central  Article  Google Scholar 

  25. 25

    Losh, M. et al. Defining key features of the broad autism phenotype: a comparison across parents of multiple- and single-incidence autism families. Am. J. Med. Gen. 147B, 424–433 (2008).

    Article  Google Scholar 

  26. 26

    Gottesman, I. & Gould, T. The endophenotype concept in psychiatry: etymology and strategic intentions. Am. J. Psychiatry 160, 636–645 (2003).

    Article  Google Scholar 

  27. 27

    Baron-Cohen, S. Is high-functioning autism/Asperger's syndrome necessarily a disability? Dev. Psychopathol. 12, 489–500 (2000).

    CAS  PubMed  Article  Google Scholar 

  28. 28

    Samson, F., Mottron, L., Soulieres, I. & Zeffiro, T. A. Enhanced visual functioning in autism: an ALE meta-analysis. Hum. Brain Mapp. 4 Apr 2011 (doi:10.1002/hbm.21307).

    PubMed  Article  Google Scholar 

  29. 29

    Heaton, P. F. et al. Autism and pitch processing: a precursor for savant musical ability? Music Percept. 15, 291–305 (1998).

    Article  Google Scholar 

  30. 30

    Asperger, H. The mentally abnormal child. Viennese Clin. Weekly 49, 1–12 (1938).

    Google Scholar 

  31. 31

    Beardon, L. & Worton, D. (eds) Aspies on Mental Health: Speaking for Ourselves (Jessica Kingsley Publishers, London, 2011).

    Google Scholar 

  32. 32

    Humphrey, N. & Lewis, S. 'Make me normal': the views and experiences of pupils on the autistic spectrum in mainstream secondary schools. Autism 12, 23–46 (2008).

    PubMed  Article  Google Scholar 

  33. 33

    Prince, D. E. An exceptional path: an ethnographic narrative reflecting on autistic parenthood from evolutionary, cultural and spiritual perspectives. Ethos 38, 56–68 (2010).

    Article  Google Scholar 

  34. 34

    US Department of Health and Human Services. The 2011 Interagency Autism Coordinating Committee Strategic Plan for Autism Spectrum Disorder Research [online], (2011).

  35. 35

    UK Department of Health. Towards 'Fulfilling and rewarding lives': The first year delivery plan for adults with autism in England [online], (2010).

  36. 36

    Medical Research Council. MRC Autism Forward Look and Review [online], (2010).

  37. 37

    O'Hara, M. The campaigner bringing people with autism to the policy table. SocietyGuardian (Lond.) 5 (8 Jun 2011).

  38. 38

    Marx, G. Another view on autism. New Jersey Monthly (26 Jun 2009).

    Google Scholar 

  39. 39

    Andari, E. et al. Promoting social behaviour with oxytocin in high-functioning autism spectrum disorders. Proc. Natl Acad. Sci. USA 107, 4389–4394 (2010).

    CAS  PubMed  Article  Google Scholar 

  40. 40

    Ablon, J. Living with Genetic Disorder: the Impact of Neurofibromatosis 1 (Auburn House, Westport, Connecticut, 1999).

    Google Scholar 

  41. 41

    Campbell, E. & Ross, L. Parental attitudes and beliefs regarding the genetic testing of children. Community Genet. 8, 94–102 (2005).

    PubMed  Article  Google Scholar 

  42. 42

    Savulescu, J. Procreative beneficence: why we should choose the best children. Bioethics 15, 413–426 (2001).

    CAS  PubMed  Article  Google Scholar 

  43. 43

    Quigley, M. & Harris, J. in Philosophical Reflections on Disability (eds Ralston, D. C. & Ho, J.) 123–132 (Springer, New York, 2010).

    Google Scholar 

  44. 44

    Walsh, P. Asperger syndrome and the supposed obligation not to bring disabled lives into the world. J. Med. Ethics 36, 521–524 (2010).

    PubMed  Article  Google Scholar 

  45. 45

    Skotko, B. Prenatally diagnosed Downs syndrome: mothers who continued their pregnancies evaluate their health care providers. Am. J. Obstet. Gynecol. 192, 670–677 (2005).

    PubMed  Article  Google Scholar 

  46. 46

    Shen, Y. et al. Clinical genetic testing for parents with autism spectrum disorders. Pediatrics 125, 727–735 (2010).

    Article  Google Scholar 

  47. 47

    Brookes-Howell, L. C. Living without labels: the interactional management of diagnostic uncertainty in the genetic counseling clinic. Soc. Sci. Med. 63, 3080–3091 (2006).

    PubMed  Article  Google Scholar 

  48. 48

    Selkirk, C. G. et al. Parents' perceptions if autism spectrum disorder etiology and recurrence risk and effects of their perceptions on family planning: recommendations for genetic counsellors. J. Genet. Couns. 18, 507–519 (2009).

    PubMed  Article  Google Scholar 

  49. 49

    Fanos, J. H. et al. Attitudes toward prenatal screening and testing for Fragile X. Genet. Med. 8, 129–133 (2006).

    PubMed  Article  Google Scholar 

  50. 50

    Miller, F. A. et al. What is a meaningful result? Disclosing the results of genomic research in autism to research participants. Eur. J. Hum. Genet. 18, 867–871 (2010).

    PubMed  PubMed Central  Article  Google Scholar 

  51. 51

    American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders 4th edn (American Psychiatric Association, 2000).

  52. 52

    Georgiades, S. et al. Structure of the autism symptom phenotype: a proposed multidimensional model. J. Am. Acad. Child. Adolesc. Psychiatry 46, 188–196 (2007).

    PubMed  Article  Google Scholar 

  53. 53

    Volkmar, F. R., State, M. & Klin, A. Autism and autism spectrum disorders: diagnostic issues for the coming decade. J. Child. Psychol. Psychiatry 50, 108–115 (2009).

    PubMed  Article  Google Scholar 

  54. 54

    Anney, R. et al. A genome-wide scan for common alleles affecting risk for autism. Hum. Mol. Genet. 19, 4072–4082 (2010).

    CAS  PubMed  PubMed Central  Article  Google Scholar 

  55. 55

    Wang, K. et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459, 528–533 (2009).

    CAS  PubMed  PubMed Central  Article  Google Scholar 

  56. 56

    Currenti, S. A. Understanding and determining the etiology of autism. Cell. Mol. Neurobiol. 30, 161–171 (2009).

    PubMed  Article  Google Scholar 

  57. 57

    Sanders, S. J. et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70, 863–885 (2011).

    CAS  PubMed  PubMed Central  Article  Google Scholar 

  58. 58

    Glannon, W. Neurodiversity. JEMH 2, 1–6 (2007).

    Google Scholar 

  59. 59

    Holmer Nadeson, M. Constructing Autism: Unravelling the Truth and Understanding the Social (Routledge, London, 2005).

    Google Scholar 

  60. 60

    Barnbaum, D. R. The Ethics of Autism: Among Them, But Not Of Them (Indiana Univ. Press, Bloomington, Indiana, 2008).

    Google Scholar 

  61. 61

    Fitzpatrick, M. Defeating Autism (Routledge, London, 2009).

    Google Scholar 

  62. 62

    Schwarz, E. et al. Sex-specific serum biomarker patterns in adults with Asperger's syndrome. Mol. Psychiatry 28 Sep 2010 (doi:10.1038/mp.2010.102).

    PubMed  Article  Google Scholar 

  63. 63

    Yap, I. K. et al. Urinary metabolic phenotyping differentiates children with autism from their unaffected siblings and age-matched controls. J. Proteome Res. 9, 2996–3004 (2010).

    CAS  PubMed  Article  Google Scholar 

  64. 64

    Elder, L. M., Dawson. G., Toth, K., Fein, D. & Munson, J. Head circumference as an early predictor of autism symptoms in younger siblings of children with autism spectrum disorders. J. Autism Dev. Disord. 38, 1104–1111 (2008).

    PubMed  Article  Google Scholar 

  65. 65

    Miller, D. T. et al. Consensus statement: chromosmal microoarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am. J. Hum. Genet. 86, 749–764 (2010).

    CAS  PubMed  PubMed Central  Article  Google Scholar 

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Acknowledgements

During the writing of this article, M.E. was supported by the Leverhulme Trust, the UK Medical Research Council (G0701484), the British Autism Study of Infant Siblings (BASIS) funding consortium led by Autistica (http://www.basisnetwork.org) and the COST Action BM1004. Although the views expressed in this paper are her own, M.E. is grateful to colleagues from BASIS for helpful discussions and to BASIS families for inspiring and guiding her thinking about autism. P.B. is a senior investigator in the UK National Institute of Health Research (NIHR). He is supported by the NIHR Biomedical Research Centre in Mental Health at the South London and Maudsley Foundation Trust and the Institute of Psychiatry, King's College London.

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Correspondence to Pat Walsh or Mayada Elsabbagh.

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Autism Crisis — Science and Ethics in the Era of Autism Politics

The ADHD-200 Sample

The Prenatally and Postnatally Diagnosed Conditions Awareness Act

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Walsh, P., Elsabbagh, M., Bolton, P. et al. In search of biomarkers for autism: scientific, social and ethical challenges. Nat Rev Neurosci 12, 603–612 (2011). https://doi.org/10.1038/nrn3113

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