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The goal of this study was to evaluate transsulfuration metabolites in participants diagnosed with autism spectrum disorders (ASDs). Transsulfuration metabolites, including: plasma reduced glutathione (GSH), plasma oxidized glutathione (GSSG), plasma cysteine, plasma taurine, plasma sulfate, and plasma free sulfate among participants diagnosed with ASDs (n = 38) in comparison to age-matched neurotypical controls were prospectively evaluated. Testing was conducted using Vitamin Diagnostics, Inc. (CLIA-approved). Participants diagnosed with ASDs had significantly (P < 0.001) decreased plasma reduced GSH, plasma cysteine, plasma taurine, plasma sulfate, and plasma free sulfate relative to controls. By contrast, participants diagnosed with ASDs had significantly (P < 0.001) increased plasma GSSG relative to controls. The present observations are compatible with increased oxidative stress and a decreased detoxification capacity, particularly of mercury, in patients diagnosed with ASDs. Patients diagnosed with ASDs should be routinely tested to evaluate transsulfuration metabolites, and potential treatment protocols should be evaluated to potentially correct the transsulfuration abnormalities observed.

The purpose of this study was to evaluate scores generated from the Autism Treatment Evaluation Checklist (ATEC), a parent-rated measure, and those derived from professionally completed Childhood Autism Rating Scale (CARS) evaluations. A cohort of 56 participants diagnosed with an autism spectrum disorder was used for the study, and each child was evaluated independently by the parent using the ATEC and a health care professional using the CARS. The Spearman's rank correlation statistic ρ was used to evaluate the correlation between ATEC and CARS scores. It was observed that there was a significant correlation between total ATEC and CARS scores (ρ = .71). Specific domains in the ATEC evaluation significantly correlated with CARS scores. Sensitivity, specificity, and receiver operating characteristic confirmed the association between CARS and ATEC domains. The results help to validate the utility of the parentally completed ATEC in comparison with an established, professional-related measure of autism.

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SummaryBackgroundL-carnitine was proposed as a potential treatment for patients diagnosed with an autism spectrum disorder to improve mitochondrial dysfunction, but no prior randomized controlled trials have been conducted.Material/MethodsThirty subjects diagnosed with an ASD were randomly assigned to receive a standardized regimen (50 mg L-carnitine/kg bodyweight/day) of liquid L-carnitine (n=19) or placebo (n=11) for 3-months. Measures included changes in professionally completed Childhood Autism Rating Scale (CARS), hand muscle testing, and modified clinical global impression (CGI) forms; parent completed Autism Treatment Evaluation Checklist (ATEC), treatment adherence measurement (TAM), frequency and intensity of side effect rating (FISER)/global rating of side effect burden (GRSEB)/patient report of incidence of side effects (PRISE) forms; and lab testing.ResultsSignificant improvements were observed in CARS (−2.03, 95% CI=−3.7 to −0.31), CGI (−0.69, 95% CI=−1.1 to −0.06), and ATEC scores. Significant correlations between changes in serum free-carnitine levels and positive clinical changes were observed for hand muscle strength (R2=0.23, P=0.046), cognitive scores (R2=0.27, P=0.019), and CARS scores (R2=0.20, P=0.047). Study subjects were protocol-compliant (average adherence was >85%) and generally well-tolerated the L-carnitine therapy given.ConclusionsL-carnitine therapy (50 mg/kilogram-bodyweight/day) administered for 3-months significantly improved several clinical measurements of ASD severity, but subsequent studies are recommended.