Definition
A biological marker (biomarker) is defined as a characteristic that is objectively measured and evaluated as an indicator of normal biological processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention (Biomarkers Definitions Working 2001). Although the term biomarker is often associated with biological processes, many data modalities can be used to objectively measure relevant processes, such as genes, metabolites, brain structure and function, and overt behaviors. In fields like oncology, biomarkers have been categorized into meaningful subtypes, and similar efforts to classify biomarkers in neuropsychiatry are in progress (Davis et al. 2015; McPartland 2016). Through meaningful subtypes, biomarkers can serve a multitude of purposes in autism spectrum disorder (ASD) research and treatment.
Diagnostic biomarkersare discrete, and objective measures of whether or not an individual has ASD and their identification have been a long-standing...
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References and Reading
American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders: DSM-5. Washington, DC: American Psychiatric Association.
Asperger, H. (1944). Die “Autistischen Psychopathen” im Kindesalter. Archive fur psychiatrie und Nervenkrankheiten, 117(1), 76–136.
Biomarkers Definitions Working Group. (2001). Biomarkers and surrogate endpoints: Preferred definitions and conceptual framework. Clinical Pharmacology and Therapeutics, 69(3), 89–95. https://doi.org/10.1067/mcp.2001.113989.
Davis, J., Maes, M., Andreazza, A., McGrath, J. J., Tye, S. J., & Berk, M. (2015). Towards a classification of biomarkers of neuropsychiatric disease: From encompass to compass. Molecular Psychiatry, 20(2), 152–153. https://doi.org/10.1038/mp.2014.139.
Dawson, G., Webb, S. J., & McPartland, J. (2005). Understanding the nature of face processing impairment in autism: Insights from behavioral and electrophysiological studies. Developmental Neuropsychology, 27(3), 403–424. https://doi.org/10.1207/s15326942dn2703_6.
Dawson, G., Rogers, S., Munson, J., Smith, M., Winter, J., Greenson, J., … Varley, J. (2010). Randomized, controlled trial of an intervention for toddlers with autism: The early start Denver model. Pediatrics, 125(1), e17–e23.
Estes, A., Munson, J., Rogers, S. J., Greenson, J., Winter, J., & Dawson, G. (2015). Long-term outcomes of early intervention in 6-year-old children with autism spectrum disorder. Journal of the American Academy of Child and Adolescent Psychiatry, 54(7), 580–587. https://doi.org/10.1016/j.jaac.2015.04.005.
Kalia, M. (2015). Biomarkers for personalized oncology: Recent advances and future challenges. Metabolism, 64(3), S16–S21. https://doi.org/10.1016/j.metabol.2014.10.027.
Kanner, L. (1943). Autistic disturbances of affective contact. Nervous Child, 2(3), 217–250.
Lee, J. W., Devanarayan, V., Barrett, Y. C., Weiner, R., Allinson, J., Fountain, S., … Wagner, J. A. (2006). Fit-for-purpose method development and validation for successful biomarker measurement. Pharmaceutical Research, 23(2), 312–328. https://doi.org/10.1007/s11095-005-9045-3.
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. Journal of Autism and Developmental Disorders, 24(5), 659–685.
Lord, C., Rutter, M., DiLavore, P., Risi, S., Gotham, K., & Bishop, S. (2012). Autism diagnostic observation schedule–2nd edition (ADOS-2). Los Angeles: Western Psychological Corporation.
Loth, E., Murphy, D. G., & Spooren, W. (2016a). Defining precision medicine approaches to autism spectrum disorders: Concepts and challenges. Frontiers in Psychiatry, 7, 188. https://doi.org/10.3389/fpsyt.2016.00188.
Loth, E., Spooren, W., Ham, L. M., Isaac, M. B., Auriche-Benichou, C., Banaschewski, T., … Murphy, D. G. (2016b). Identification and validation of biomarkers for autism spectrum disorders. Nature Reviews: Drug Discovery, 15(1), 70–73. https://doi.org/10.1038/nrd.2015.7.
Loth, E., Charman, T., Mason, L., Tillmann, J., Jones, E. J. H., Wooldridge, C., … Buitelaar, J. K. (2017). The EU-AIMS longitudinal European autism project (LEAP): Design and methodologies to identify and validate stratification biomarkers for autism spectrum disorders. Molecular Autism, 8, 24. https://doi.org/10.1186/s13229-017-0146-8.
Lovaas, O. I. (1987). Behavioral treatment and normal educational and intellectual functioning in young autistic children. Journal of Consulting and Clinical Psychology, 55(1), 3.
McPartland, J. C. (2016). Considerations in biomarker development for neurodevelopmental disorders. Current Opinion in Neurology, 29(2), 118–122.
Nalejska, E., Maczynska, E., & Lewandowska, M. A. (2014). Prognostic and predictive biomarkers: Tools in personalized oncology. Molecular Diagnosis & Therapy, 18(3), 273–284. https://doi.org/10.1007/s40291-013-0077-9.
Pelphrey, K. (2017). Charting a course for autism biomarkers. Biological Psychiatry, 82(3), 155–156. https://doi.org/10.1016/j.biopsych.2017.06.002.
Shen, M. D., Nordahl, C. W., Young, G. S., Wootton-Gorges, S. L., Lee, A., Liston, S. E., … Amaral, D. G. (2013). Early brain enlargement and elevated extra-axial fluid in infants who develop autism spectrum disorder. Brain, 136(Pt 9), 2825–2835. https://doi.org/10.1093/brain/awt166.
Shen, M. D., Kim, S. H., McKinstry, R. C., Gu, H., Hazlett, H. C., Nordahl, C. W., … Gu, H. (2017). Increased extra-axial cerebrospinal fluid in high-risk infants who later develop autism. Biological Psychiatry, 82(3), 186–193. https://doi.org/10.1016/j.biopsych.2017.02.1095.
Smith, T., Groen, A. D., & Wynn, J. W. (2000). Randomized trial of intensive early intervention for children with pervasive developmental disorder. American Journal of Mental Retardation, 105(4), 269–285. https://doi.org/10.1352/0895-8017(2000)105<0269:rtoiei>2.0.co;2.
Varcin, K. J., & Nelson, C. A. (2016). A developmental neuroscience approach to the search for biomarkers in autism spectrum disorder. Current Opinion in Neurology, 29(2), 123–129. https://doi.org/10.1097/WCO.0000000000000298.
Zhao, X., Modur, V., Carayannopoulos, L. N., & Laterza, O. F. (2015). Biomarkers in pharmaceutical research. Clinical Chemistry, 61(11), 1343–1353. https://doi.org/10.1373/clinchem.2014.231712.
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Day, T.C., McPartland, J.C. (2018). Biomarker Research in Autism Spectrum Disorder. In: Volkmar, F. (eds) Encyclopedia of Autism Spectrum Disorders. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6435-8_102260-1
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DOI: https://doi.org/10.1007/978-1-4614-6435-8_102260-1
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