Frontiers in Brain Based Therapeutic Interventions and Biomarker Research in Child and Adolescent Psychiatry

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12 August 2014
Biomarkers in Autism
Andre A. S. Goldani
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Robert L. Hendren
Signaling pathways and possible treatments associated with ASD. Molecules whose mutations or polymorphisms are associated with ASD are indicated in red. Stimulations and inhibitions are indicated by red and blue arrows, respectively. Possible treatments and their target molecules are indicated by red texts in orange boxes. SynGAP1, which directly interacts with PSD-95, could not be placed next to PSD-95 for simplicity. Figure as originally published in Won et al. (8).

Autism spectrum disorders (ASDs) are complex, heterogeneous disorders caused by an interaction between genetic vulnerability and environmental factors. In an effort to better target the underlying roots of ASD for diagnosis and treatment, efforts to identify reliable biomarkers in genetics, neuroimaging, gene expression, and measures of the body’s metabolism are growing. For this article, we review the published studies of potential biomarkers in autism and conclude that while there is increasing promise of finding biomarkers that can help us target treatment, there are none with enough evidence to support routine clinical use unless medical illness is suspected. Promising biomarkers include those for mitochondrial function, oxidative stress, and immune function. Genetic clusters are also suggesting the potential for useful biomarkers.

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Progressive loss of cortical thickness in a “front to back” pattern observed through longitudinal imaging of 70 children with COS compared to 72 control participants. Reproduced with permission from Gogtay (160), adapted from Greenstein et al. (46).
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