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. 2013 Apr;7(2):247-60.
doi: 10.2217/bmm.12.108.

Newborn screening for autism: in search of candidate biomarkers

Gerald J Mizejewski  1 , Barbara Lindau-Shepard, Kenneth A Pass
Affiliations

Newborn screening for autism: in search of candidate biomarkers

Gerald J Mizejewski et al. Biomark Med. 2013 Apr.

Abstract

Background: Autism spectrum disorder (ASD) represents a wide range of neurodevelopmental disorders characterized by impairments in social interaction, language, communication and range of interests. Autism is usually diagnosed in children 3-5 years of age using behavioral characteristics; thus, diagnosis shortly after birth would be beneficial for early initiation of treatment.

Aim: This retrospective study sought to identify newborns at risk for ASD utilizing bloodspot specimens in an immunoassay.

Materials & methods: The present study utilized stored frozen specimens from ASD children already diagnosed at 15-36 months of age. The newborn specimens and controls were analyzed by immunoassay in a multiplex system that included 90 serum biomarkers and subjected to statisical analysis.

Results: Three sets of five biomarkers associated with ASD were found that differed from control groups. The 15 candidate biomarkers were then discussed regarding their association with ASD.

Conclusion: This study determined that a statistically selected panel of 15 biomarkers successfully discriminated presumptive newborns at risk for ASD from those of nonaffected controls.

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Figures

Figure 1
Figure 1. The regularized matched logistic regression of 76 exploratory biomarkers in 16 matched autism spectrum disorder cases
The increasing degree of regularization along the right side of the figure suggests that only 15 biomarkers could contribute to a screening panel for autism. The remaining biomarkers are clustered at the top of the figure and are separated by a natural break in the two populations at p-values exceeding 0.65 (above dotted line).
Figure 2
Figure 2. The case-to-control discrimination of the best performing statistical model
The p-value of the case-to-control model (p[case/control]) is shown as a matched logistic function of the 16 model-selected autism cases..
Figure 3
Figure 3. A circle model of proposed causes of autism versus screen-selected biomarkers
A circle model of the proposed six causes of autism is shown on the outer circles, while the inner overlapping circles indicate the biomarkers associated with the causative metabolic or immune response/inflammation events. The overlap of the outer and inner circles indicates the degree of association of the two agents. CCT: Calcitonin; TSH: Thyroid-stimulating hormone.
See this image and copyright information in PMC

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