Abstract

BackgroundIt has recently been hypothesized that hyperglutamatergia in the brain is involved in the pathophysiology of autism. However, there is no conclusive evidence of the validity of this hypothesis. As peripheral glutamate/glutamine levels have been reported to be correlated with those of the central nervous system, the authors examined whether the levels of 25 amino acids, including glutamate and glutamine, in the platelet-poor plasma of drug-naïve, male children with high-functioning autism (HFA) would be altered compared with those of normal controls.Methodology/Principal FindingsPlasma levels of 25 amino acids in male children (N = 23) with HFA and normally developed healthy male controls (N = 22) were determined using high-performance liquid chromatography. Multiple testing was allowed for in the analyses. Compared with the normal control group, the HFA group had higher levels of plasma glutamate and lower levels of plasma glutamine. No significant group difference was found in the remaining 23 amino acids. The effect size (Cohen's d) for glutamate and glutamine was large: 1.13 and 1.36, respectively. Using discriminant analysis with logistic regression, the two values of plasma glutamate and glutamine were shown to well-differentiate the HFA group from the control group; the rate of correct classification was 91%.Conclusions/SignificanceThe present study suggests that plasma glutamate and glutamine levels can serve as a diagnostic tool for the early detection of autism, especially normal IQ autism. These findings indicate that glutamatergic abnormalities in the brain may be associated with the pathobiology of autism.

Highlights

  • Autism is a neurodevelopmental disorder that affects 1–2 in 100 children, according to recent data on the broad array of autism spectrum disorders (ASD) [1]

  • Conclusions/Significance: The present study suggests that plasma glutamate and glutamine levels can serve as a diagnostic tool for the early detection of autism, especially normal Intelligence Quotient (IQ) autism

  • There was no significant difference in age (t = 1.79, df = 43, p = 0.081), IQ (t = 22.00, df = 43, p = 0.052), BMI, or plasma creatinine levels (t = 0.99, df = 43, p = 0.33) between the highfunctioning autism (HFA) and control groups (Table 2)

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Summary

Introduction

Autism is a neurodevelopmental disorder that affects 1–2 in 100 children, according to recent data on the broad array of autism spectrum disorders (ASD) [1]. Genetic predisposition and environmental contributors have been implicated in the pathophysiology of autism, the precise mechanisms underlying the pathophysiology of this disorder remain unknown [3] and there are no established methods of prevention or cure. Receiving diagnosis at an early stage of development could contribute to the acquisition of optimized coping strategies for both patients and their families. While diagnosis of autism is based solely on behavioral abnormalities, such abnormalities are often overlooked in early life, even among professionals involved in pediatric healthcare [4]. It remains necessary to establish a reliable hallmark that could contribute to an early and more precise autism diagnosis. It has recently been hypothesized that hyperglutamatergia in the brain is involved in the pathophysiology of autism. As peripheral glutamate/glutamine levels have been reported to be correlated with those of the central nervous system, the authors examined whether the levels of 25 amino acids, including glutamate and glutamine, in the platelet-poor plasma of drug-naıve, male children with highfunctioning autism (HFA) would be altered compared with those of normal controls

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