The Johnson Center for Child Health and Development, Austin TXDepartment of Psychiatry, University of Texas Southwestern, Dallas TX
* Corresponding author Email: firstname.lastname@example.org
Autism is a highly heterogeneous disorder, with a strong genetic basis and many associated medical and behavioural comorbidities. Current diagnostic methods and screening tools are somewhat subjective and are difficult to assess in younger children, which often results in missed opportunities for early intervention. A biological marker that could predict autism risk, assist in early diagnosis or even identify potential therapeutic targets would have great clinical utility. While research in this field has greatly increased in recent years, progress has been limited and no biological markers for autism have been found to be universal. In this review, the major scientific challenges associated with the identification of biological markers for autism are described. Factors that may play a role in impeding progress in autism biomarker research, including the heterogeneity of autism, the presence of comorbid conditions, gender bias and the availability of appropriate research samples will be carefully reviewed.
The search for autism biomarkers in the laboratory is an important research endeavour that is fraught with many challenges, yet the translation of such findings into the clinic may be the real challenge and requires the investigation of large, well-characterized sample cohorts with appropriate controls. Only when these issues are addressed prior to implementing new studies will robust and reliable biomarkers for autism be identified.