Abstract
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by deficits in social communication and social interaction and restricted, repetitive patterns of behavior, interests, or activities. Given the lack of specific pharmacological therapy for ASD and the clinical heterogeneity of the disorder, current biomarker research efforts are geared mainly toward identifying markers for determining ASD risk or for assisting with a diagnosis. A wide range of putative biological markers for ASD is currently being investigated. Proteomic analyses indicate that the levels of many proteins in plasma/serum are altered in ASD, suggesting that a panel of proteins may provide a blood biomarker for ASD. Serum samples from 76 boys with ASD and 78 typically developing (TD) boys, 18 months-8 years of age, were analyzed to identify possible early biological markers for ASD. Proteomic analysis of serum was performed using SomaLogic’s SOMAScanTM assay 1.3K platform. A total of 1,125 proteins were analyzed. There were 86 downregulated proteins and 52 upregulated proteins in ASD (FDR < 0.05). Combining three different algorithms, we found a panel of 9 proteins that identified ASD with an area under the curve (AUC) = 0.8599±0.0640, with specificity and sensitivity of 0.8217±0.1178 and 0.835±0.1176, respectively. All 9 proteins were significantly different in ASD compared with TD boys, and were significantly correlated with ASD severity as measured by ADOS total scores. Using machine learning methods, a panel of serum proteins was identified that may be useful as a blood biomarker for ASD in boys. Further verification of the protein biomarker panel with independent test sets is warranted.
Highlights
We have previously demonstrated that thyroid-stimulating hormone (TSH) and interleukin-8 (IL-8) were effective for separating boys with Autism spectrum disorder (ASD) from healthy control subjects, and levels were correlated with the severity of ASD [11]
Five proteins were common to all three prediction models used: mitogen-activated protein kinase 14 (MAPK14), immunoglobulin D (IgD), dermatopontin (DERM), ephrin type-B receptor 2 (EPHB2), and soluble urokinase-type plasminogen activator receptor
The present study used serum samples from ASD and typically developing (TD) boys to search for a panel of proteins with diagnostic accuracy for the identification of ASD
Summary
ASD is associated with considerable personal, family, and societal costs. For these reasons, efforts directed toward determining the underlying pathobiology of ASD, as well as ASD prevention, early diagnosis, and effective treatments, are public health priorities [4]. ASD is currently diagnosed based on behavioral criteria because its underlying disease mechanisms and associated medical, neurological, and psychiatric comorbidities are poorly understood [5,6,7]. Diagnosis is critical because are intensive behavioral therapy programs effective in decreasing maladaptive behaviors in many children with ASD [8], the benefits of early intervention are typically greater the earlier the intervention begins [9,10]. A biological marker that could predict ASD risk, assist in early diagnosis, or even identify potential therapeutic targets has great clinical utility [10,11,12]
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