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

Nature Reviews Neuroscience volume 12, pages 603612 (2011) | Download Citation

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.

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References

  1. 1.

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

  2. 2.

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

  3. 3.

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

  4. 4.

    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).

  5. 5.

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

  6. 6.

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

  7. 7.

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

  8. 8.

    , & Debating clinical utility. Public Health Genomics 13, 215–223 (2010).

  9. 9.

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

  10. 10.

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

  11. 11.

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

  12. 12.

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

  13. 13.

    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).

  14. 14.

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

  15. 15.

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

  16. 16.

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

  17. 17.

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

  18. 18.

    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).

  19. 19.

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

  20. 20.

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

  21. 21.

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

  22. 22.

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

  23. 23.

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

  24. 24.

    & 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).

  25. 25.

    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).

  26. 26.

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

  27. 27.

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

  28. 28.

    , , & Enhanced visual functioning in autism: an ALE meta-analysis. Hum. Brain Mapp. 4 Apr 2011 (doi:10.1002/hbm.21307).

  29. 29.

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

  30. 30.

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

  31. 31.

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

  32. 32.

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

  33. 33.

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

  34. 34.

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

  35. 35.

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

  36. 36.

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

  37. 37.

    The campaigner bringing people with autism to the policy table. SocietyGuardian (Lond.) 5 (8 Jun 2011).

  38. 38.

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

  39. 39.

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

  40. 40.

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

  41. 41.

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

  42. 42.

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

  43. 43.

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

  44. 44.

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

  45. 45.

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

  46. 46.

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

  47. 47.

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

  48. 48.

    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).

  49. 49.

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

  50. 50.

    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).

  51. 51.

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

  52. 52.

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

  53. 53.

    , & Autism and autism spectrum disorders: diagnostic issues for the coming decade. J. Child. Psychol. Psychiatry 50, 108–115 (2009).

  54. 54.

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

  55. 55.

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

  56. 56.

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

  57. 57.

    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).

  58. 58.

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

  59. 59.

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

  60. 60.

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

  61. 61.

    Defeating Autism (Routledge, London, 2009).

  62. 62.

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

  63. 63.

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

  64. 64.

    , Dawson. G., , & 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).

  65. 65.

    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).

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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.

Author information

Author notes

    • Mayada Elsabbagh

    Mayada Elsabbagh was previously at the Centre for Brain and Cognitive Development, School of Psychology, Birkbeck College, University of London, London WC1E 7HX, UK. Present address: Department of Psychiatry, McGill University, 1033 Pine Av. West, Montreal, Quebec H3A 1A1, Canada.

    • Pat Walsh
    •  & Mayada Elsabbagh

    P.W. and M.E. contributed equally to this work.

Affiliations

  1. Pat Walsh is at the Centre of Medical Law and Ethics, School of Law, King's College, London WC2R 2LS, UK.

    • Pat Walsh
  2. Patrick Bolton is at the Institute of Psychiatry, King's College London, De Crespigny Park, London SE5 8AF, UK.

    • Patrick Bolton
  3. Ilina Singh is at the BIOS Centre, London School of Economics and Political Science, London WC2A 2AE, UK.

    • Ilina Singh

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Competing interests

The authors declare no competing financial interests.

Corresponding authors

Correspondence to Pat Walsh or Mayada Elsabbagh.

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DOI

https://doi.org/10.1038/nrn3113

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